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Question: What is (are) multiple lentigines syndrome ? Answer:

Multiple lentigines syndrome (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. The characteristic features associated with the condition include brown skin spots called lentigines that are similar to freckles, abnormalities in the electrical signals that control the heartbeat, widely spaced eyes (ocular hypertelorism), a narrowing of the artery from the heart to the lungs (pulmonary stenosis), abnormalities of the genitalia, short stature, and hearing loss. These features vary, however, even among affected individuals in the same family. Not all individuals affected with multiple lentigines syndrome have all the characteristic features of this condition. The lentigines seen in multiple lentigines syndrome typically first appear in mid-childhood, mostly on the face, neck, and upper body. Affected individuals may have thousands of brown skin spots by the time they reach puberty. Unlike freckles, the appearance of lentigines has nothing to do with sun exposure. In addition to lentigines, people with this condition may have lighter brown skin spots called caf-au-lait spots. Caf-au-lait spots tend to develop before the lentigines, appearing within the first year of life in most affected people. Abnormal electrical signaling in the heart can be a sign of other heart problems. Of the people with multiple lentigines syndrome who have heart problems, about 80 percent have hypertrophic cardiomyopathy, which is a thickening of the heart muscle that forces the heart to work harder to pump blood. The hypertrophic cardiomyopathy in affected individuals most often affects the lower left chamber of the heart (the left ventricle). Up to 20 percent of people with multiple lentigines syndrome who have heart problems have pulmonary stenosis. People with multiple lentigines syndrome can have a distinctive facial appearance. In addition to ocular hypertelorism, affected individuals may have droopy eyelids (ptosis), thick lips, and low-set ears. Abnormalities of the genitalia occur most often in males with multiple lentigines syndrome. The most common abnormality in affected males is undescended testes (cryptorchidism). Other males may have a urethra that opens on the underside of the penis (hypospadias). Males with multiple lentigines syndrome may have a reduced ability to have biological children (decreased fertility). Females with multiple lentigines syndrome may have poorly developed ovaries and delayed puberty. At birth, people with multiple lentigines syndrome are typically of normal weight and height, but in some, growth slows over time. This slow growth results in short stature in 50 to 75 percent of people with multiple lentigines syndrome. Approximately 20 percent of individuals with multiple lentigines syndrome develop hearing loss. This hearing loss is caused by abnormalities in the inner ear (sensorineural deafness) and can be present from birth or develop later in life. Other signs and symptoms of multiple lentigines syndrome include learning disorders, mild developmental delay, a sunken or protruding chest, and extra folds of skin on the back of the neck. Many of the signs and symptoms of multiple lentigines syndrome also occur in a similar disorder called Noonan syndrome. It can be difficult to tell the two disorders apart in early childhood. However, the features of the two disorders differ later in life.

Question: What causes Gastritis ? Answer:

Common causes of gastritis include - Helicobacter pylori (H. pylori) infection - damage to the stomach lining, which leads to reactive gastritis - an autoimmune response H. pylori infection. H. pylori is a type of bacteriaorganisms that may cause an infection. H. pylori infection - causes most cases of gastritis - typically causes nonerosive gastritis - may cause acute or chronic gastritis H. pylori infection is common, particularly in developing countries, and the infection often begins in childhood. Many people who are infected with H. pylori never have any symptoms. Adults are more likely to show symptoms when symptoms do occur. Researchers are not sure how the H. pylori infection spreads, although they think contaminated food, water, or eating utensils may transmit the bacteria. Some infected people have H. pylori in their saliva, which suggests that infection can spread through direct contact with saliva or other body fluids. More information about Peptic Ulcer Disease and H. pylori is provided in the NIDDK health topic, Peptic Ulcer Disease. Damage to the stomach lining, which leads to reactive gastritis. Some people who have damage to the stomach lining can develop reactive gastritis. Reactive gastritis - may be acute or chronic - may cause erosions - may cause little or no inflammation Reactive gastritis may also be called reactive gastropathy when it causes little or no inflammation. The causes of reactive gastritis may include - nonsteroidal anti-inflammatory drugs (NSAIDs), a type of over-the-counter medication. Aspirin and ibuprofen are common types of NSAIDs. - drinking alcohol. - using cocaine. - exposure to radiation or having radiation treatments. - reflux of bile from the small intestine into the stomach. Bile reflux may occur in people who have had part of their stomach removed. - a reaction to stress caused by traumatic injuries, critical illness, severe burns, and major surgery. This type of reactive gastritis is called stress gastritis. An autoimmune response. In autoimmune gastritis, the immune system attacks healthy cells in the stomach lining. The immune system normally protects people from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. Autoimmune gastritis is chronic and typically nonerosive. Less common causes of gastritis may include - Crohn's disease, which causes inflammation and irritation of any part of the gastrointestinal (GI) tract. - sarcoidosis, a disease that causes inflammation that will not go away. The chronic inflammation causes tiny clumps of abnormal tissue to form in various organs in the body. The disease typically starts in the lungs, skin, and lymph nodes. - allergies to food, such as cow's milk and soy, especially in children. - infections with viruses, parasites, fungi, and bacteria other than H. pylori, typically in people with weakened immune systems.

Question: What is (are) Non-Small Cell Lung Cancer ? Answer:

Key Points - Non-small cell lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. - There are several types of non-small cell lung cancer. - Smoking is the major risk factor for non-small cell lung cancer. - Signs of non-small cell lung cancer include a cough that doesn't go away and shortness of breath. - Tests that examine the lungs are used to detect (find), diagnose, and stage non-small cell lung cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. - For most patients with non-small cell lung cancer, current treatments do not cure the cancer. Non-small cell lung cancer is a disease in which malignant (cancer) cells form in the tissues of the lung. The lungs are a pair of cone-shaped breathing organs in the chest. The lungs bring oxygen into the body as you breathe in. They release carbon dioxide, a waste product of the bodys cells, as you breathe out. Each lung has sections called lobes. The left lung has two lobes. The right lung is slightly larger and has three lobes. Two tubes called bronchi lead from the trachea (windpipe) to the right and left lungs. The bronchi are sometimes also involved in lung cancer. Tiny air sacs called alveoli and small tubes called bronchioles make up the inside of the lungs. A thin membrane called the pleura covers the outside of each lung and lines the inside wall of the chest cavity. This creates a sac called the pleural cavity. The pleural cavity normally contains a small amount of fluid that helps the lungs move smoothly in the chest when you breathe. There are two main types of lung cancer: non-small cell lung cancer and small cell lung cancer. See the following PDQ summaries for more information about lung cancer: - Small Cell Lung Cancer Treatment - Unusual Cancers of Childhood Treatment - Lung Cancer Prevention - Lung Cancer Screening There are several types of non-small cell lung cancer. Each type of non-small cell lung cancer has different kinds of cancer cells. The cancer cells of each type grow and spread in different ways. The types of non-small cell lung cancer are named for the kinds of cells found in the cancer and how the cells look under a microscope: - Squamous cell carcinoma: Cancer that begins in squamous cells, which are thin, flat cells that look like fish scales. This is also called epidermoid carcinoma. - Large cell carcinoma: Cancer that may begin in several types of large cells. - Adenocarcinoma: Cancer that begins in the cells that line the alveoli and make substances such as mucus. Other less common types of non-small cell lung cancer are: pleomorphic, carcinoid tumor, salivary gland carcinoma, and unclassified carcinoma. For most patients with non-small cell lung cancer, current treatments do not cure the cancer. If lung cancer is found, taking part in one of the many clinical trials being done to improve treatment should be considered. Clinical trials are taking place in most parts of the country for patients with all stages of non-small cell lung cancer. Information about ongoing clinical trials is available from the NCI website.

Question: What is (are) Q Fever ? Answer:

More detailed information on the diagnosis, management, and treatment of Q fever is available in other sections of this web site and in the materials referenced in the section titled “Further Reading”. How to Contact the Rickettsial Zoonoses Branch at CDC The general public and healthcare providers should first call 1-800-CDC-INFO (1-800-232-4636) for questions regarding Q fever. If a consultation with a CDC scientist specializing in Q fever is advised, your call will be appropriately forwarded. Case Definitions As of January 1, 2009, Q fever infections are reported under distinct reporting categories described in the 2009 Q fever surveillance case definition. 2009 Q Fever Case Definition Case Report Forms For confirmed and probable cases of Q fever that have been identified and reported through the National Notifiable Disease Surveillance System, states are also encouraged to submit additional information using the CDC Case Report Form (CRF). This form collects additional important information that routine electronic reporting does not, such as information on how the diagnosis was made, and whether the patient was hospitalized or died. If a different state-specific form is already used to collect this information, this information may be submitted to CDC in lieu of a CRF. How to Submit Specimens to CDC for Q FeverTesting Private citizens may not directly submit specimens to CDC for testing. If you feel that diagnostic testing is necessary, consult your healthcare provider or state health department. Laboratory testing is available at many commercial laboratories. State Health Departments Specimens may be submitted to CDC for reference testing for Q fever. To coordinate specimen submission, please call 404-639-1075 during business hours (8:00 - 4:30 ET). U.S. Healthcare Providers Q fever laboratory testing is available at many commercial laboratories. U.S. healthcare providers should not submit specimens for testing directly to CDC. CDC policy requires that specimens for testing be submitted through or with the approval of the state health department. Please contact your state health department and request assistance with specimen submission and reporting of infection. For general questions about Q fever, please call 1-800-CDC-INFO (1-800-232-4636). If you have questions about a suspect Q fever case, please first consult your state health department. Healthcare providers requiring an epidemiologic or laboratory consultation on Q fever may also call 404-639-1075 during business hours (8:00 - 4:30 ET). Or 770-488-7100 after hours. Non-U.S. Healthcare Providers Non-U.S. healthcare providers should consult CDC prior to submitting specimens for testing. For general questions about Q fever, please call 1-800-CDC-INFO (1-800-232-4636). If you would like to discuss a suspect Q fever case with CDC, please call 404-639-1075 during business hours (8:00 - 4:30 ET), or 770-488-7100 after hours.

Question: What is (are) Waldenstrm macroglobulinemia ? Answer:

Waldenstrm macroglobulinemia is a rare blood cell cancer characterized by an excess of abnormal white blood cells called lymphoplasmacytic cells in the bone marrow. This condition is classified as a lymphoplasmacytic lymphoma. The abnormal cells have characteristics of both white blood cells (lymphocytes) called B cells and of more mature cells derived from B cells known as plasma cells. These abnormal cells produce excess amounts of IgM, a type of protein known as an immunoglobulin; the overproduction of this large protein is how the condition got its name ("macroglobulinemia"). Waldenstrm macroglobulinemia usually begins in a person's sixties and is a slow-growing (indolent) cancer. Some affected individuals have elevated levels of IgM and lymphoplasmacytic cells but no symptoms of the condition; in these cases, the disease is usually found incidentally by a blood test taken for another reason. These individuals are diagnosed with smoldering (or asymptomatic) Waldenstrm macroglobulinemia. It can be several years before this form of the condition progresses to the symptomatic form. Individuals with symptomatic Waldenstrm macroglobulinemia can experience general symptoms such as fever, night sweats, and weight loss. Several other signs and symptoms of the condition are related to the excess IgM, which can thicken blood and impair circulation, causing a condition known as hyperviscosity syndrome. Features related to hyperviscosity syndrome include bleeding in the nose or mouth, blurring or loss of vision, headache, dizziness, and difficulty coordinating movements (ataxia). In some affected individuals, the IgM proteins clump together in the hands and feet, where the body temperature is cooler than at the center of the body. These proteins are then referred to as cryoglobulins, and their clumping causes a condition known as cryoglobulinemia. Cryoglobulinemia can lead to pain in the hands and feet or episodes of Raynaud phenomenon, in which the fingers and toes turn white or blue in response to cold temperatures. The IgM protein can also build up in organs such as the heart and kidneys, causing a condition called amyloidosis, which can lead to heart and kidney problems. Some people with Waldenstrm macroglobulinemia develop a loss of sensation and weakness in the limbs (peripheral neuropathy). Doctors are unsure why this feature occurs, although they speculate that the IgM protein attaches to the protective covering of nerve cells (myelin) and breaks it down. The damaged nerves cannot carry signals normally, leading to neuropathy. Other features of Waldenstrm macroglobulinemia are due to the accumulation of lymphoplasmacytic cells in different tissues. For example, accumulation of these cells can lead to an enlarged liver (hepatomegaly), spleen (splenomegaly), or lymph nodes (lymphadenopathy). In the bone marrow, the lymphoplasmacytic cells interfere with normal blood cell development, causing a shortage of normal blood cells (pancytopenia). Excessive tiredness (fatigue) due to a reduction in red blood cells (anemia) is common in affected individuals. People with Waldenstrm macroglobulinemia have an increased risk of developing other cancers of the blood or other tissues.

Question: What are the symptoms of Vici syndrome ? Answer:

What are the signs and symptoms of Vici syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Vici syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Aplasia/Hypoplasia of the corpus callosum 90% Cellular immunodeficiency 90% Cognitive impairment 90% EEG abnormality 90% Generalized hypopigmentation 90% Hypertrophic cardiomyopathy 90% Hypopigmentation of hair 90% Muscular hypotonia 90% Recurrent respiratory infections 90% Short stature 90% Abnormality of neuronal migration 50% Abnormality of the palate 50% Abnormality of the renal tubule 50% Aplasia/Hypoplasia of the cerebellum 50% Cataract 50% Nystagmus 50% Optic atrophy 50% Seizures 50% Abnormality of the macula 7.5% Cerebral cortical atrophy 7.5% Hypertelorism 7.5% Hypotelorism 7.5% Limitation of joint mobility 7.5% Sensorineural hearing impairment 7.5% Sleep disturbance 7.5% Abnormal posturing - Abnormality of the thymus - Acidosis - Agenesis of corpus callosum - Albinism - Autosomal recessive inheritance - Cerebellar vermis hypoplasia - Chronic mucocutaneous candidiasis - Cleft palate - Cleft upper lip - Congenital cataract - Congenital onset - Congestive heart failure - Cutaneous anergy - Decreased number of CD4+ T cells - Decreased T cell activation - Dilated cardiomyopathy - Failure to thrive - Growth delay - Hypopigmentation of the fundus - IgG deficiency - Immunoglobulin IgG2 deficiency - Left ventricular hypertrophy - Low-set ears - Microcephaly - Motor delay - Myopathy - Ocular albinism - Penile hypospadias - Recurrent bacterial infections - Recurrent fungal infections - Recurrent viral infections - Schizencephaly - White matter neuronal heterotopia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Bardet-Biedl syndrome 10 ? Answer:

What are the signs and symptoms of Bardet-Biedl syndrome 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 10. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney 95% Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Cognitive impairment 90% Multicystic kidney dysplasia 90% Obesity 90% Postaxial hand polydactyly 90% Micropenis 88% Myopia 75% Astigmatism 63% Hypertension 50% Hypoplasia of penis 50% Nystagmus 50% Polycystic ovaries 50% Short stature 50% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hypertrichosis 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Medial flaring of the eyebrow 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Prominent nasal bridge 7.5% Short neck 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Poor coordination - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Bardet-Biedl syndrome 12 ? Answer:

What are the signs and symptoms of Bardet-Biedl syndrome 12? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 12. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney 95% Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Cognitive impairment 90% Multicystic kidney dysplasia 90% Obesity 90% Postaxial hand polydactyly 90% Micropenis 88% Myopia 75% Astigmatism 63% Hypertension 50% Hypoplasia of penis 50% Nystagmus 50% Polycystic ovaries 50% Short stature 50% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hypertrichosis 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Medial flaring of the eyebrow 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Prominent nasal bridge 7.5% Short neck 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Poor coordination - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Hemophagocytic lymphohistiocytosis ? Answer:

What are the signs and symptoms of Hemophagocytic lymphohistiocytosis? The signs and symptoms of hemophagocytic lymphohistiocytosis typically develop during the first months or years of life. However, in rare cases, affected people may not show symptoms until later in childhood or even into adulthood. The features of this condition may include: Fever Enlarged liver and/or spleen Skin rash Lymph node enlargement Breathing problems Easy bruising and/or abnormal bleeding Kidney abnormalities Heart problems Increased risk for certain cancers (leukemia, lymphoma) Many people with this condition also develop neurologic abnormalities. The neurological symptoms vary but may include irritability, fatigue, abnormal muscle tone, seizures, neck stiffness, mental status changes, ataxia, blindness, paralysis, and/or coma. The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophagocytic lymphohistiocytosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Reduced natural killer cell activity 13/13 Granulocytopenia 11/14 Neutropenia 5/7 Abnormal natural killer cell physiology - Anemia - Ataxia - Autosomal recessive inheritance - Coma - CSF pleocytosis - Encephalitis - Episodic fever - Failure to thrive - Fever - Generalized edema - Hemiplegia - Hemophagocytosis - Hepatomegaly - Hepatosplenomegaly - Hyperbetalipoproteinemia - Hypertonia - Hypertriglyceridemia - Hypoalbuminemia - Hypoalphalipoproteinemia - Hypofibrinogenemia - Hyponatremia - Hypoproteinemia - Increased circulating very-low-density lipoprotein cholesterol - Increased CSF protein - Increased intracranial pressure - Increased serum ferritin - Increased total bilirubin - Irritability - Jaundice - Leukopenia - Lymphadenopathy - Meningitis - Muscular hypotonia - Prolonged partial thromboplastin time - Prolonged prothrombin time - Seizures - Splenomegaly - Tetraplegia - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Bardet-Biedl syndrome 11 ? Answer:

What are the signs and symptoms of Bardet-Biedl syndrome 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 11. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney 95% Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Cognitive impairment 90% Multicystic kidney dysplasia 90% Obesity 90% Postaxial hand polydactyly 90% Micropenis 88% Myopia 75% Astigmatism 63% Hypertension 50% Hypoplasia of penis 50% Nystagmus 50% Polycystic ovaries 50% Short stature 50% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hypertrichosis 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Medial flaring of the eyebrow 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Prominent nasal bridge 7.5% Short neck 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Poor coordination - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of De Barsy syndrome ? Answer:

What are the signs and symptoms of De Barsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for De Barsy syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Cataract 90% Cognitive impairment 90% Cutis laxa 90% Hyperextensible skin 90% Hyperreflexia 90% Joint hypermobility 90% Muscular hypotonia 90% Opacification of the corneal stroma 90% Prematurely aged appearance 90% Short stature 90% Wide nasal bridge 90% Abnormality of adipose tissue 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the skin 50% Broad forehead 50% Macrotia 50% Abnormality of female external genitalia 7.5% Abnormality of skin pigmentation 7.5% Abnormality of the hip bone 7.5% Adducted thumb 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Blue sclerae 7.5% Chorea 7.5% Flexion contracture 7.5% Genu recurvatum 7.5% Joint dislocation 7.5% Pectus excavatum 7.5% Reduced bone mineral density 7.5% Scoliosis 7.5% Umbilical hernia 7.5% Cryptorchidism 5% Athetosis - Autosomal recessive inheritance - Brachycephaly - Congenital hip dislocation - Corneal arcus - Delayed skeletal maturation - Failure to thrive - Frontal bossing - Hypertelorism - Hypotelorism - Inguinal hernia - Intellectual disability - Intrauterine growth retardation - Large fontanelles - Low-set ears - Myopia - Narrow mouth - Narrow nasal ridge - Prominent forehead - Prominent superficial blood vessels - Seizures - Severe short stature - Sparse hair - Sporadic - Strabismus - Talipes equinovarus - Thin skin - Wide cranial sutures - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What causes Urinary Incontinence in Children ? Answer:

The exact cause of most cases of nighttime UI is not known. Though a few cases are caused by structural problems in the urinary tract, most cases probably result from a mix of factors including slower physical development, an overproduction of urine at night, and the inability to recognize bladder filling when asleep. Nighttime UI has also been associated with attention deficit hyperactivity disorder (ADHD), OSA, and anxiety. Children also may inherit genes from one or both parents that make them more likely to have nighttime UI. Slower Physical Development Between the ages of 5 and 10, bedwetting may be the result of a small bladder capacity, long sleeping periods, and underdevelopment of the bodys alarms that signal a full or emptying bladder. This form of UI fades away as the bladder grows and the natural alarms become operational. Overproduction of Urine at Night The body produces antidiuretic hormone (ADH), a natural chemical that slows down the production of urine. More ADH is produced at night so the need to urinate lessens. If the body does not produce enough ADH at night, the production of urine may not slow down, leading to bladder overfilling. If a child does not sense the bladder filling and awaken to urinate, wetting will occur. Structural Problems A small number of UI cases are caused by physical problems in the urinary tract. Rarely, a blocked bladder or urethra may cause the bladder to overfill and leak. Nerve damage associated with the birth defect spina bifida can cause UI. In these cases, UI can appear as a constant dribbling of urine. Attention Deficit Hyperactivity Disorder Children with ADHD are three times more likely to have nighttime UI than children without ADHD.2 The connection between ADHD and bedwetting has not been explained, but some experts theorize that both conditions are related to delays in central nervous system development. Obstructive Sleep Apnea Nighttime UI may be one sign of OSA. Other symptoms of OSA include snoring, mouth breathing, frequent ear and sinus infections, sore throat, choking, and daytime drowsiness. Experts believe that when the airway in people with OSA closes, a chemical may be released in the body that increases water production and inhibits the systems that regulate fluid volume. Successful treatment of OSA often resolves the associated nighttime UI. Anxiety Anxiety-causing events that occur between 2 and 4 years of agebefore total bladder control is achievedmight lead to primary enuresis. Anxiety experienced after age 4 might lead to secondary enuresis in children who have been dry for at least 6 months. Events that cause anxiety in children include physical or sexual abuse; unfamiliar social situations, such as moving or starting at a new school; and major family events such as the birth of a sibling, a death, or divorce. UI itself is an anxiety-causing event. Strong bladder contractions resulting in daytime leakage can cause embarrassment and anxiety that lead to nighttime wetting. Genetics Certain genes have been found to contribute to UI. Children have a 30 percent chance of having nighttime UI if one parent was affected as a child. If both parents were affected, there is a 70 percent chance of bedwetting.1

Question: What are the symptoms of Ehlers-Danlos syndrome, dermatosparaxis type ? Answer:

What are the signs and symptoms of Ehlers-Danlos syndrome, dermatosparaxis type? The signs and symptoms of Ehlers-Danlos syndrome (EDS), dermatosparaxis type vary but may include: Soft, doughy skin that is extremely fragile Severe bruising and scarring Saggy, redundant skin, especially on the face Hernias Short stature Delayed closure of the fontanelles Short fingers Characteristic facial appearance with puffy eyelids, blue sclerae (whites of the eyes), epicanthal folds, downslanting palpebral fissures (outside corners of the eyes that point downward) and micrognathia Rupture of the bladder or diaphragm Mild to severe joint hypermobility The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, dermatosparaxis type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of coagulation 90% Abnormality of the hip bone 90% Atypical scarring of skin 90% Hyperextensible skin 90% Joint dislocation 90% Limitation of joint mobility 90% Muscular hypotonia 90% Neurological speech impairment 90% Reduced bone mineral density 90% Short stature 90% Thin skin 90% Umbilical hernia 90% Depressed nasal bridge 50% Epicanthus 50% Hypertelorism 50% Scoliosis 50% Abnormality of primary molar morphology - Autosomal recessive inheritance - Blepharochalasis - Blue sclerae - Bruising susceptibility - Delayed closure of the anterior fontanelle - Fragile skin - Frontal open bite - Gingival bleeding - Gingival hyperkeratosis - Gingival overgrowth - Hirsutism - Hypodontia - Inguinal hernia - Joint laxity - Micromelia - Motor delay - Myopia - Osteopenia - Premature birth - Premature rupture of membranes - Recurrent mandibular subluxations - Redundant skin - Short phalanx of finger - Short toe - Soft, doughy skin - Spontaneous neonatal pneumothorax - Thick vermilion border - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What causes Urine Blockage in Newborns ? Answer:

Many types of defects in the urinary tract can cause urine blockage: - Vesicoureteral reflux (VUR). Most children with VUR are born with a ureter that did not grow long enough during development in the womb. The valve formed by the ureter pressing against the bladder wall does not close properly, so urine backs uprefluxesfrom the bladder to the ureter and eventually to the kidney. Severe reflux may prevent a kidney from developing normally and may increase the risk for damage from infections after birth. VUR usually affects only one ureter and kidney, though it can affect both ureters and kidneys. - Ureteropelvic junction (UPJ) obstruction. If urine is blocked where the ureter joins the kidney, only the kidney swells. The ureter remains a normal size. UPJ obstruction usually occurs in only one kidney. - Bladder outlet obstruction (BOO). BOO describes any blockage in the urethra or at the opening of the bladder.Posterior urethral valves (PUV), the most common form of BOO seen in newborns and during prenatal ultrasound exams, is a birth defect in boys in which an abnormal fold of tissue in the urethra keeps urine from flowing freely out of the bladder. This defect may cause swelling in the entire urinary tract, including the urethra, bladder, ureters, and kidneys. - Ureterocele. If the end of the ureter does not develop normally, it can bulge, creating a ureterocele. The ureterocele may obstruct part of the ureter or the bladder. Some babies are born with genetic conditions that affect several different systems in the body, including the urinary tract: - Prune belly syndrome (PBS). PBS is a group of birth defects involving poor development of the abdominal muscles, enlargement of the ureters and bladder, and both testicles remaining inside the body instead of descending into the scrotum. The skin over the abdomen is wrinkled, giving the appearance of a prune. PBS usually occurs in boys, and most children with PBS have hydronephrosisswelling in the kidneyand VUR. - Esophageal atresia (EA). EA is a birth defect in which the esophagusthe muscular tube that carries food and liquids from the mouth to the stomachlacks the opening for food to pass into the stomach. Babies born with EA may also have problems with their spinal columns, digestive systems, hearts, and urinary tracts. - Congenital heart defects. Heart defects range from mild to life threatening. Children born with heart defects also have a higher rate of problems in the urinary tract than children in the general population, suggesting that some types of heart and urinary defects may have a common genetic cause. Urine blockage can also be caused by spina bifida and other birth defects that affect the spinal cord. These defects may interrupt nerve signals between the bladder, spinal cord, and brain, which are needed for urination, and lead to urinary retentionthe inability to empty the bladder completelyin newborns. Urine that remains in the bladder can reflux into the ureters and kidneys, causing swelling.

Question: What are the symptoms of Freeman Sheldon syndrome ? Answer:

What are the signs and symptoms of Freeman Sheldon syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Freeman Sheldon syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the teeth 90% Camptodactyly of finger 90% Chin dimple 90% Hypertelorism 90% Limitation of joint mobility 90% Narrow mouth 90% Scoliosis 90% Talipes 90% Trismus 90% Ulnar deviation of finger 90% Underdeveloped nasal alae 90% Wide nasal bridge 90% Abnormality of the nares 50% Cryptorchidism 50% Deeply set eye 50% Hearing impairment 50% Long philtrum 50% Malignant hyperthermia 50% Neurological speech impairment 50% Prenatal movement abnormality 50% Ptosis 50% Short stature 50% Strabismus 50% Intellectual disability 31% Absent palmar crease 7.5% Hernia 7.5% Oligohydramnios 7.5% Polyhydramnios 7.5% Abnormal auditory evoked potentials - Abnormality of the skin - Adducted thumb - Autosomal dominant inheritance - Autosomal recessive inheritance - Blepharophimosis - Breech presentation - Camptodactyly - Cerebellar atrophy - Chin with H-shaped crease - Epicanthus - Failure to thrive - Fever - Flat face - Flexion contracture of toe - High palate - Hip contracture - Hip dislocation - Hypoplasia of the brainstem - Inguinal hernia - Joint contracture of the hand - Knee flexion contracture - Kyphoscoliosis - Malar flattening - Mandibular prognathia - Mask-like facies - Microcephaly - Muscle weakness - Nasal speech - Postnatal growth retardation - Prominent forehead - Rocker bottom foot - Seizures - Short neck - Short nose - Shoulder flexion contracture - Small for gestational age - Spina bifida occulta - Talipes equinovarus - Telecanthus - Ulnar deviation of the hand or of fingers of the hand - Whistling appearance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Werner's syndrome ? Answer:

What are the signs and symptoms of Werner's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Werner's syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal hair whorl 90% Abnormality of the thorax 90% Cataract 90% Convex nasal ridge 90% Lipoatrophy 90% Pili torti 90% Prematurely aged appearance 90% Short stature 90% White forelock 90% Abnormality of retinal pigmentation 50% Abnormality of the pulmonary artery 50% Abnormality of the testis 50% Abnormality of the voice 50% Aplasia/Hypoplasia of the skin 50% Chondrocalcinosis 50% Congestive heart failure 50% Coronary artery disease 50% Decreased fertility 50% Diabetes mellitus 50% Hyperkeratosis 50% Increased bone mineral density 50% Lack of skin elasticity 50% Narrow face 50% Reduced bone mineral density 50% Rocker bottom foot 50% Short palm 50% Skeletal muscle atrophy 50% Skin ulcer 50% Telangiectasia of the skin 50% Abnormality of the cerebral vasculature 7.5% Hypertension 7.5% Laryngomalacia 7.5% Limitation of joint mobility 7.5% Meningioma 7.5% Neoplasm of the breast 7.5% Neoplasm of the lung 7.5% Neoplasm of the oral cavity 7.5% Neoplasm of the skin 7.5% Neoplasm of the small intestine 7.5% Neoplasm of the thyroid gland 7.5% Ovarian neoplasm 7.5% Renal neoplasm 7.5% Secondary amenorrhea 7.5% Abnormality of the hair - Autosomal recessive inheritance - Hypogonadism - Osteoporosis - Osteosarcoma - Premature arteriosclerosis - Progeroid facial appearance - Retinal degeneration - Subcutaneous calcification - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Aromatic L-amino acid decarboxylase deficiency ? Answer:

What are the signs and symptoms of Aromatic L-amino acid decarboxylase deficiency? Symptoms, which typically present during the first year of life, include severe developmental delay, weak muscle tone (hypotonia), muscle stiffness, difficulty moving, and involuntary writhing movements of the limbs (athetosis). This condition may also cause infants to lack energy, feed poorly, startle easily, and have sleep disturbances. Many people with AADC deficiency exprience episodes called oculogyric crises (also called "spells" or "attacks"), which are characterized by abnormal rotation of the eyeballs, extreme irritability and agitation, pain, muscle spasms, and uncontrolled movements of the head and neck.. These episodes can last for many hours and can be times of extreme concern for caregivers and family members. AADC deficiency may also affect the autonomic nervous system, which controls involuntary body processes like regulation of blood pressure and body temperature. Autonomic symptoms may include droopy eye lids (ptosis), constriction of the pupils of the eyes (miosis), inappropriate or impaired sweating, nasal congestion, drooling, reduced ability to control body temperature, low blood pressure (hypotension), gastroesophageal reflux, low blood sugar (hypoglycemia), fainting (syncope), and cardiac arrest. The signs and symptoms of AADC deficiency tend to worsen late in the day or when the individual is tired, and improve after sleep. The Human Phenotype Ontology provides the following list of signs and symptoms for Aromatic L-amino acid decarboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Autosomal recessive inheritance - Babinski sign - Choreoathetosis - Constipation - Decreased CSF homovanillic acid (HVA) - Diarrhea - Emotional lability - Feeding difficulties in infancy - Gastroesophageal reflux - Hyperhidrosis - Hyperreflexia - Hypotension - Infantile onset - Intermittent hypothermia - Irritability - Limb dystonia - Limb hypertonia - Miosis - Muscular hypotonia of the trunk - Myoclonus - Ptosis - Sleep disturbance - Temperature instability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Weill-Marchesani syndrome ? Answer:

What are the signs and symptoms of Weill-Marchesani syndrome? Variability in symptoms exist among individuals who have Weill-Marchesani syndrome. The features of this condition include proportionate short stature, short fingers (called brachdactyly), and joint stiffness. Eye problems are typically recognized in childhood and include microspherophakia (small spherical lens), severe nearsightedness (myopia), ectopia lentis (abnormal position of the lens), and glaucoma, all of which can affect vision. Occasionally people with Weill-Marchesani syndrome have heart abnormalities such as pulmonary valve stenosis or ductus arteriosus. Most individuals with Weill-Marchesani syndrome have normal intelligence. The Human Phenotype Ontology provides the following list of signs and symptoms for Weill-Marchesani syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the lens 90% Ectopia lentis 90% Glaucoma 90% Myopia 90% Short stature 90% Short toe 90% Limitation of joint mobility 50% Thickened skin 50% Intellectual disability, mild 11% Abnormality of the aortic valve 7.5% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary valve 7.5% Cognitive impairment 7.5% Visual impairment 7.5% Abnormality of dental morphology - Aortic valve stenosis - Autosomal dominant inheritance - Autosomal recessive inheritance - Blindness - Brachycephaly - Brachydactyly syndrome - Broad metacarpals - Broad metatarsal - Broad palm - Broad phalanges of the hand - Broad ribs - Broad skull - Cataract - Depressed nasal bridge - Hypoplasia of the maxilla - Joint stiffness - Lumbar hyperlordosis - Misalignment of teeth - Mitral regurgitation - Narrow palate - Patent ductus arteriosus - Proportionate short stature - Pulmonic stenosis - Scoliosis - Severe Myopia - Shallow anterior chamber - Shallow orbits - Spinal canal stenosis - Thin bony cortex - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: How to diagnose Laryngeal Cancer ? Answer:

Tests that examine the throat and neck are used to help detect (find), diagnose, and stage laryngeal cancer.The following tests and procedures may be used: - Physical exam of the throat and neck: An exam to check the throat and neck for abnormal areas. The doctor will feel the inside of the mouth with a gloved finger and examine the mouth and throat with a small long-handled mirror and light. This will include checking the insides of the cheeks and lips; the gums; the back, roof, and floor of the mouth; the top, bottom, and sides of the tongue; and the throat. The neck will be felt for swollen lymph nodes. A history of the patients health habits and past illnesses and medical treatments will also be taken. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The sample of tissue may be removed during one of the following procedures: - Laryngoscopy : A procedure to look at the larynx (voice box) for abnormal areas. A mirror or a laryngoscope (a thin, tube-like instrument with a light and a lens for viewing) is inserted through the mouth to see the larynx. A special tool on the laryngoscope may be used to remove samples of tissue. - Endoscopy : A procedure to look at organs and tissues inside the body, such as the throat, esophagus, and trachea to check for abnormal areas. An endoscope (a thin, lighted tube with a light and a lens for viewing) is inserted through an opening in the body, such as the mouth. A special tool on the endoscope may be used to remove samples of tissue. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner. - Barium swallow : A series of x-rays of the esophagus and stomach. The patient drinks a liquid that contains barium (a silver-white metallic compound). The liquid coats the esophagus and stomach, and x-rays are taken. This procedure is also called an upper GI series.

Question: What are the symptoms of Bardet-Biedl syndrome 2 ? Answer:

What are the signs and symptoms of Bardet-Biedl syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Bardet-Biedl syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the kidney 95% Abnormal electroretinogram 90% Abnormality of retinal pigmentation 90% Cognitive impairment 90% Multicystic kidney dysplasia 90% Obesity 90% Postaxial hand polydactyly 90% Micropenis 88% Myopia 75% Astigmatism 63% Hypertension 50% Hypoplasia of penis 50% Nystagmus 50% Polycystic ovaries 50% Short stature 50% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Hearing impairment 7.5% Hepatic failure 7.5% Hypertrichosis 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Medial flaring of the eyebrow 7.5% Nephrotic syndrome 7.5% Neurological speech impairment 7.5% Prominent nasal bridge 7.5% Short neck 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Poor coordination - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: How to diagnose Urethral Cancer ? Answer:

Tests that examine the urethra and bladder are used to detect (find) and diagnose urethral cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - Pelvic exam : An exam of the vagina, cervix, uterus, fallopian tubes, ovaries, and rectum. A speculum is inserted into the vagina and the doctor or nurse looks at the vagina and cervix for signs of disease. The doctor or nurse also inserts one or two lubricated, gloved fingers of one hand into the vagina and places the other hand over the lower abdomen to feel the size, shape, and position of the uterus and ovaries. The doctor or nurse also inserts a lubricated, gloved finger into the rectum to feel for lumps or abnormal areas. - Digital rectal exam : An exam of the rectum. The doctor or nurse inserts a lubricated, gloved finger into the lower part of the rectum to feel for lumps or anything else that seems unusual. - Urine cytology : A laboratory test in which a sample of urine is checked under a microscope for abnormal cells. - Urinalysis : A test to check the color of urine and its contents, such as sugar, protein, blood, and white blood cells. If white blood cells (a sign of infection) are found, a urine culture is usually done to find out what type of infection it is. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells, white blood cells, and platelets. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the blood sample made up of red blood cells. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the pelvis and abdomen, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Ureteroscopy : A procedure to look inside the ureter and renal pelvis to check for abnormal areas. A ureteroscope is a thin, tube-like instrument with a light and a lens for viewing. The ureteroscope is inserted through the urethra into the bladder, ureter, and renal pelvis. A tool may be inserted through the ureteroscope to take tissue samples to be checked under a microscope for signs of disease. - Biopsy: The removal of cell or tissue samples from the urethra, bladder, and, sometimes, the prostate gland. The samples are viewed under a microscope by a pathologist to check for signs of cancer.

Question: What are the symptoms of Charcot-Marie-Tooth disease type 1A ? Answer:

What are the signs and symptoms of Charcot-Marie-Tooth disease type 1A? CMT1 is generally slowly progressive over many years. However, affected individuals often experience long periods without any obvious deterioration or progression. Occasionally, individuals show accelerated deterioration of function over a few years. Nerve conduction velocities (NCVs) tend to slow progressively over the first two to six years of life, but they appear to remain relatively stable throughout adulthood. Worsening of signs and symptoms tends to be slow in the second to fourth decades of life. It remains to be confirmed whether, and to what extent, there is clinical and electrophysiological disease progression in affected adults; two studies of adult with CMT1A have shown conflicting results. Authors of one study reported disease progression over time (23 years on average), while authors of another study found that both patients and controls (individuals without the condition) had a similar decline of strength and of electrophysiological findings. The findings in the latter study suggested that the decline in adulthood in affected individuals may reflect a process of normal aging rather than on-going active disease. Any major changes in the pace of progression may warrant consideration of additional acquired, or possibly independently inherited forms, of neuromuscular diseases. The severity of signs and symptoms of CMT1A can vary greatly among affected individuals. Individuals who have questions about their own specific signs and symptoms and how they may relate to progression of CMT should speak with their health care provider. The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal dominant inheritance - Cold-induced muscle cramps - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Hearing impairment - Heterogeneous - Hypertrophic nerve changes - Hyporeflexia - Insidious onset - Juvenile onset - Kyphoscoliosis - Myelin outfoldings - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - Slow progression - Steppage gait - Ulnar claw - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What is (are) X-linked adrenoleukodystrophy ? Answer:

X-linked adrenoleukodystrophy is a genetic disorder that occurs primarily in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord is prone to deterioration (demyelination), which reduces the ability of the nerves to relay information to the brain. In addition, damage to the outer layer of the adrenal glands (adrenal cortex) causes a shortage of certain hormones (adrenocortical insufficiency). Adrenocortical insufficiency may cause weakness, weight loss, skin changes, vomiting, and coma. There are three distinct types of X-linked adrenoleukodystrophy: a childhood cerebral form, an adrenomyeloneuropathy type, and a form called Addison disease only. Children with the cerebral form of X-linked adrenoleukodystrophy experience learning and behavioral problems that usually begin between the ages of 4 and 10. Over time the symptoms worsen, and these children may have difficulty reading, writing, understanding speech, and comprehending written material. Additional signs and symptoms of the cerebral form include aggressive behavior, vision problems, difficulty swallowing, poor coordination, and impaired adrenal gland function. The rate at which this disorder progresses is variable but can be extremely rapid, often leading to total disability within a few years. The life expectancy of individuals with this type depends on the severity of the signs and symptoms and how quickly the disorder progresses. Individuals with the cerebral form of X-linked adrenoleukodystrophy usually survive only a few years after symptoms begin but may survive longer with intensive medical support. Signs and symptoms of the adrenomyeloneuropathy type appear between early adulthood and middle age. Affected individuals develop progressive stiffness and weakness in their legs (paraparesis), experience urinary and genital tract disorders, and often show changes in behavior and thinking ability. Most people with the adrenomyeloneuropathy type also have adrenocortical insufficiency. In some severely affected individuals, damage to the brain and nervous system can lead to early death. People with X-linked adrenoleukodystrophy whose only symptom is adrenocortical insufficiency are said to have the Addison disease only form. In these individuals, adrenocortical insufficiency can begin anytime between childhood and adulthood. However, most affected individuals develop the additional features of the adrenomyeloneuropathy type by the time they reach middle age. The life expectancy of individuals with this form depends on the severity of the signs and symptoms, but typically this is the mildest of the three types. Rarely, individuals with X-linked adrenoleukodystrophy develop multiple features of the disorder in adolescence or early adulthood. In addition to adrenocortical insufficiency, these individuals usually have psychiatric disorders and a loss of intellectual function (dementia). It is unclear whether these individuals have a distinct form of the condition or a variation of one of the previously described types. For reasons that are unclear, different forms of X-linked adrenoleukodystrophy can be seen in affected individuals within the same family.

Question: What are the symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans ? Answer:

What are the signs and symptoms of Severe achondroplasia with developmental delay and acanthosis nigricans? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe achondroplasia with developmental delay and acanthosis nigricans. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the femur 90% Abnormality of the sacroiliac joint 90% Bowing of the long bones 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cutis laxa 90% Depressed nasal bridge 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Muscular hypotonia 90% Narrow chest 90% Platyspondyly 90% Respiratory insufficiency 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Small face 90% Split hand 90% Aplasia/Hypoplasia of the lungs 50% Frontal bossing 50% Hearing impairment 50% Increased nuchal translucency 50% Kyphosis 50% Polyhydramnios 50% Proptosis 50% Ventriculomegaly 50% Abnormality of neuronal migration 7.5% Abnormality of the kidney 7.5% Acanthosis nigricans 7.5% Atria septal defect 7.5% Cloverleaf skull 7.5% Hydrocephalus 7.5% Limitation of joint mobility 7.5% Patent ductus arteriosus 7.5% Seizures 7.5% Autosomal dominant inheritance - Decreased fetal movement - Flared metaphysis - Heterotopia - Hypoplastic ilia - Intellectual disability, profound - Lethal short-limbed short stature - Metaphyseal irregularity - Neonatal death - Severe platyspondyly - Severe short stature - Short long bone - Short ribs - Short sacroiliac notch - Small abnormally formed scapulae - Small foramen magnum - Wide-cupped costochondral junctions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Hereditary hemorrhagic telangiectasia type 4 ? Answer:

What are the signs and symptoms of Hereditary hemorrhagic telangiectasia type 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary hemorrhagic telangiectasia type 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Epistaxis 90% Telangiectasia of the skin 90% Cavernous hemangioma 50% Microcytic anemia 50% Migraine 50% Portal hypertension 50% Spontaneous hematomas 50% Visceral angiomatosis 50% Abnormality of coagulation 7.5% Abnormality of the retinal vasculature 7.5% Biliary tract abnormality 7.5% Cerebral ischemia 7.5% Cirrhosis 7.5% Congestive heart failure 7.5% Conjunctival telangiectasia 7.5% Esophageal varix 7.5% Gastrointestinal hemorrhage 7.5% Hematuria 7.5% Hemoptysis 7.5% Hepatic failure 7.5% Intestinal polyposis 7.5% Nephrolithiasis 7.5% Peripheral arteriovenous fistula 7.5% Pulmonary embolism 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Arteriovenous fistulas of celiac and mesenteric vessels - Autosomal dominant inheritance - Celiac artery aneurysm - Cerebral arteriovenous malformation - Cerebral hemorrhage - Cyanosis - Dyspnea - High-output congestive heart failure - Ischemic stroke - Lip telangiectasia - Mesenteric artery aneurysm - Nasal mucosa telangiectasia - Palate telangiectasia - Pulmonary arteriovenous malformation - Right-to-left shunt - Spinal arteriovenous malformation - Spontaneous, recurrent epistaxis - Subarachnoid hemorrhage - Tongue telangiectasia - Transient ischemic attack - Venous varicosities of celiac and mesenteric vessels - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: How to prevent Osteoporosis ? Answer:

Preventing falls is a special concern for men and women with osteoporosis. Falls can increase the likelihood of fracturing a bone in the hip, wrist, spine, or other part of the skeleton. In addition to the environmental factors listed below, falls can also be caused by impaired vision or balance, chronic diseases that affect mental or physical functioning, and certain medications, such as sedatives and antidepressants. It is also important that individuals with osteoporosis be aware of any physical changes that affect their balance or gait, and that they discuss these changes with their health care provider. Here are some tips to help eliminate the environmental factors that lead to falls. Outdoors: - Use a cane or walker for added stability. - Wear rubber-soled shoes for traction. - Walk on grass when sidewalks are slippery. - In winter, carry salt or kitty litter to sprinkle on slippery sidewalks. - Be careful on highly polished floors that become slick and dangerous when wet. - Use plastic or carpet runners when possible. Use a cane or walker for added stability. Wear rubber-soled shoes for traction. Walk on grass when sidewalks are slippery. In winter, carry salt or kitty litter to sprinkle on slippery sidewalks. Be careful on highly polished floors that become slick and dangerous when wet. Use plastic or carpet runners when possible. Indoors: - Keep rooms free of clutter, especially on floors. - Keep floor surfaces smooth but not slippery. - Wear supportive, low-heeled shoes even at home. - Avoid walking in socks, stockings, or slippers. - Be sure carpets and area rugs have skid-proof backing or are tacked to the floor. - Be sure stairwells are well lit and that stairs have handrails on both sides. - Install grab bars on bathroom walls near tub, shower, and toilet. - Use a rubber bath mat in shower or tub. - Keep a flashlight with fresh batteries beside your bed. - If using a step stool for hard-to-reach areas, use a sturdy one with a handrail and wide steps. - Add ceiling fixtures to rooms lit by lamps. - Consider purchasing a cordless phone so that you dont have to rush to answer the phone when it rings, or so that you can call for help if you do fall. Keep rooms free of clutter, especially on floors. Keep floor surfaces smooth but not slippery. Wear supportive, low-heeled shoes even at home. Avoid walking in socks, stockings, or slippers. Be sure carpets and area rugs have skid-proof backing or are tacked to the floor. Be sure stairwells are well lit and that stairs have handrails on both sides. Install grab bars on bathroom walls near tub, shower, and toilet. Use a rubber bath mat in shower or tub. Keep a flashlight with fresh batteries beside your bed. If using a step stool for hard-to-reach areas, use a sturdy one with a handrail and wide steps. Add ceiling fixtures to rooms lit by lamps. Consider purchasing a cordless phone so that you dont have to rush to answer the phone when it rings, or so that you can call for help if you do fall. Learn more about devices that can help prevent falls in older adults.

Question: What is (are) Obesity Hypoventilation Syndrome ? Answer:

Obesity hypoventilation (HI-po-ven-tih-LA-shun) syndrome (OHS) is a breathing disorder that affects some obese people. In OHS, poor breathing results in too much carbon dioxide (hypoventilation) and too little oxygen in the blood (hypoxemia). OHS sometimes is called Pickwickian syndrome. Overview To understand OHS, it helps to understand how the lungs work. When you breathe, air passes through your nose and mouth into your windpipe. The air then travels to your lungs' air sacs. These sacs are called alveoli (al-VEE-uhl-eye). Small blood vessels called capillaries (KAP-ih-lare-ees) run through the walls of the air sacs. When air reaches the air sacs, oxygen passes through the air sac walls into the blood in the capillaries. At the same time, carbon dioxide moves from the capillaries into the air sacs. This process is called gas exchange. In people who have OHS, poor breathing prevents proper gas exchange. As a result, the level of carbon dioxide in the blood rises. Also, the level of oxygen in the blood drops. These changes can lead to serious health problems, such as leg edema (e-DE-mah), pulmonary hypertension (PULL-mun-ary HI-per-TEN-shun), cor pulmonale (pul-meh-NAL-e), and secondary erythrocytosis (eh-RITH-ro-si-TOE-sis). If left untreated, OHS can even be fatal. The cause of OHS isn't fully known. Researchers think that several factors may work together to cause the disorder. Many people who have OHS also have obstructive sleep apnea. Obstructive sleep apnea is a common disorder in which the airway collapses or is blocked during sleep. This causes pauses in breathing or shallow breaths while you sleep. Obstructive sleep apnea disrupts your sleep and causes you to feel very tired during the day. (For more information, go to the Health Topics Sleep Apnea article.) Outlook Doctors treat OHS in a number of ways. One way is with positive airway pressure (PAP) machines, which are used during sleep. PAP therapy uses mild air pressure to keep your airways open. Your doctor might recommend CPAP (continuous positive airway pressure) or BiPAP (bilevel positive airway pressure). If your doctor prescribes PAP therapy, you'll work with someone from a home equipment provider to select a CPAP or BiPAP machine. The home equipment provider will help you select a machine based on your prescription and the features that meet your needs. Other treatments for OHS include ventilator (VEN-til-a-tor) support and medicines. (A ventilator is a machine that supports breathing.) OHS occurs with obesity, so your doctor will likely recommend weight loss as part of your treatment plan. Successful weight loss often involves setting goals and making lifestyle changes, such as following a healthy diet and being physically active. OHS can lead to other serious health problems, so following your treatment plan is important. Your health care team, home equipment provider, and family can help you manage your treatment.

Question: What are the symptoms of Dihydrolipoamide dehydrogenase deficiency ? Answer:

What are the signs and symptoms of Dihydrolipoamide dehydrogenase deficiency? The signs and symptoms of dihydrolipoamide dehydrogenase (DLD) deficiency can vary widely among affected people. Early-onset DLD deficiency typically appears in early infancy with decreased muscle tone (hypotonia), lethargy, and lactic acidosis. Lactic acidosis can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. Symptoms typically occur in episodes that may be triggered by illness, injury, or other stresses on the body. Affected infants often do not survive their initial episode or may die within the first few years of life during a recurrent episode. Children who live beyond the first two to three years often have growth delays and neurological problems such as intellectual disability, spasticity, ataxia, and seizures. However, normal intellect has been reported in a few people with the early-onset form of DLD deficiency. Isolated liver involvement, which can range from hepatomegaly (enlarged liver) to life-threatening liver failure, can also occur in the newborn period, or as late as the 3rd decade of life. A few people with DLD deficiency have become affected later in childhood with ataxia and dystonia, with normal cognitive development. Rarely, affected people have muscle weakness (particularly during exercise) or a weakened heart muscle (cardiomyopathy). The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydrolipoamide dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Cognitive impairment 50% Gait disturbance 50% Hepatomegaly 50% Microcephaly 50% Muscular hypotonia 50% Hepatic failure 7.5% Hypoglycemia 7.5% Decreased liver function 5% Elevated hepatic transaminases 5% Ataxia - Autosomal recessive inheritance - Dystonia - Encephalopathy - Feeding difficulties - Hypertrophic cardiomyopathy - Lactic acidosis - Lethargy - Metabolic acidosis - Seizures - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of 1q21.1 microdeletion syndrome ? Answer:

What are the signs and symptoms of 1q21.1 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 1q21.1 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 50% Abnormality of the palate 50% Cognitive impairment 50% Deeply set eye 50% Epicanthus 50% Frontal bossing 50% Long philtrum 50% Microcephaly 50% Short stature 50% Abnormality of the aorta 7.5% Abnormality of the cardiac septa 7.5% Abnormality of thumb phalanx 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Brachydactyly syndrome 7.5% Cataract 7.5% Chorioretinal coloboma 7.5% Clinodactyly of the 5th finger 7.5% Cryptorchidism 7.5% Hand polydactyly 7.5% Hernia of the abdominal wall 7.5% Hydrocephalus 7.5% Hypermetropia 7.5% Intrauterine growth retardation 7.5% Iris coloboma 7.5% Joint hypermobility 7.5% Muscular hypotonia 7.5% Patent ductus arteriosus 7.5% Preaxial foot polydactyly 7.5% Scoliosis 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Short foot 7.5% Sleep disturbance 7.5% Strabismus 7.5% Talipes 7.5% Toe syndactyly 7.5% Vesicoureteral reflux 7.5% Autosomal dominant inheritance - Broad hallux - Broad thumb - Bulbous nose - Coarctation of aorta - Incomplete penetrance - Intellectual disability - Schizophrenia - Transposition of the great arteries - Truncus arteriosus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the treatments for Kidney Failure: Choosing a Treatment That's Right for You ? Answer:

Conservative management for kidney failure is the choice to say no to or stop dialysis treatments. For many people, dialysis not only extends life, it also improves the quality of life. For others who have serious conditions in addition to kidney failure, dialysis may seem like a burden that only prolongs suffering. If you have serious conditions in addition to kidney failure, dialysis may not prolong your life or improve the quality of your life. You have the right to say no to or stop dialysis. You may want to speak with your doctor, spouse, family, counselor, or renal social worker, who helps people with kidney disease, to help you make this decision. If you stop dialysis treatments or say you do not want to begin them, you may live for a few weeks or for several months, depending on your health and your remaining kidney function. You may choose to receive care from a hospicea facility or home program designed to meet the physical and emotional needs of the terminally illduring this time. Hospice care focuses on relief of pain and other symptoms. Whether or not you choose to use a hospice, your doctor can give you medicines to make you more comfortable. Your doctor can also give you medicines to treat the problems of kidney failure, such as anemia or weak bones. You may restart dialysis treatment if you change your mind. Advance Directives An advance directive is a statement or document in which you give instructions either to withhold certain treatments, such as dialysis, or to provide them, depending on your wishes and the specific circumstances. Even if you are happy with your quality of life on dialysis, you should think about circumstances that might make you want to stop dialysis treatments. At some point in a medical crisis, you might lose the ability to tell your health care team and loved ones what you want. Advance directives may include - a living will - a durable power of attorney for health care decisions - a do not resuscitate (DNR) ordera legal form that tells your health care team you do not want cardiopulmonary resuscitation (CPR) or other life-sustaining treatment if your heart were to stop or if you were to stop breathing. A living will is a document that details the conditions under which you would want to refuse treatment. You may state that you want your health care team to use all available means to sustain your life, or you may direct that you be withdrawn from dialysis if you fall into a coma from which you most likely wont wake up. In addition to dialysis, you may choose or refuse the following life-sustaining treatments: - CPR - feedings through a tube in your stomach - mechanical or artificial means to help you breathe - medicines to treat infections - surgery - receiving blood Refusing to have CPR is the same as a DNR order. If you choose to have a DNR order, your doctor will place the order in your medical chart. A durable power of attorney for health care decisions or a health care proxy is a document you use to assign a person to make health care decisions for you in the event you cannot make them for yourself. Make sure the person you name understands your values and will follow your instructions. Each state has its own laws on advance directives. You can obtain a form for an advance medical directive thats valid in your state from the National Hospice and Palliative Care Organizationsee For More Information.

Question: What is (are) Childhood Brain Stem Glioma ? Answer:

Key Points - Childhood brain stem glioma is a disease in which benign (noncancer) or malignant (cancer) cells form in the tissues of the brain stem. - Brain tumors may be benign (not cancer) or malignant (cancer). - There are two types of brain stem gliomas in children. - The cause of most childhood brain tumors is unknown. - The signs and symptoms of brain stem glioma are not the same in every child. - Tests that examine the brain are used to detect (find) childhood brain stem glioma. - A biopsy may be done to diagnose certain types of brain stem glioma. - Certain factors affect prognosis (chance of recovery) and treatment options. Childhood brain stem glioma is a disease in which benign (noncancer) or malignant (cancer) cells form in the tissues of the brain stem. Gliomas are tumors formed from glial cells. Glial cells in the brain hold nerve cells in place, bring food and oxygen to them, and help protect them from disease, such as infection. The brain stem is the part of the brain connected to the spinal cord. It is in the lowest part of the brain, just above the back of the neck. The brain stem is the part of the brain that controls breathing, heart rate, and the nerves and muscles used in seeing, hearing, walking, talking, and eating. Most childhood brain stem gliomas are pontine gliomas, which form in a part of the brain stem called the pons. Brain tumors are the third most common type of cancer in children. This summary refers to the treatment of primary brain tumors (tumors that begin in the brain). Treatment for metastatic brain tumors, which are tumors formed by cancer cells that begin in other parts of the body and spread to the brain, is not discussed in this summary. Brain tumors can occur in both children and adults; however, treatment for children may be different than treatment for adults. See the following PDQ treatment summaries for more information: - Childhood Brain and Spinal Cord Tumors Treatment Overview - Adult Central Nervous System Tumors Treatment Brain tumors may be benign (not cancer) or malignant (cancer). Benign brain tumors grow and press on nearby areas of the brain. They rarely spread into other tissues. Malignant brain tumors are likely to grow quickly and spread into other brain tissue. When a tumor grows into or presses on an area of the brain, it may stop that part of the brain from working the way it should. Both benign and malignant brain tumors can cause signs and symptoms and need treatment. There are two types of brain stem gliomas in children. Childhood brain stem glioma is either a diffuse intrinsic pontine glioma (DIPG) or a focal glioma. - DIPG is a high-grade tumor that is fast-growing and spreads all through the brain stem. It is hard to treat and has a poor prognosis (chance of recovery). Children younger than 3 years diagnosed with DIPG may have a better prognosis than children who are 3 years and older. - A focal glioma is slow-growing and is in one area of the brain stem. It is easier to treat than DIPG and has a better prognosis.

Question: How to diagnose Childhood Astrocytomas ? Answer:

Tests that examine the brain and spinal cord are used to detect (find) childhood astrocytomas. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health. This includes checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - Visual field exam: An exam to check a persons field of vision (the total area in which objects can be seen). This test measures both central vision (how much a person can see when looking straight ahead) and peripheral vision (how much a person can see in all other directions while staring straight ahead). The eyes are tested one at a time. The eye not being tested is covered. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of the brain and spinal cord. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). Sometimes magnetic resonance spectroscopy (MRS) is done during the same MRI scan to look at the chemical makeup of the brain tissue. Childhood astrocytomas are usually diagnosed and removed in surgery. If doctors think there may be an astrocytoma, a biopsy may be done to remove a sample of tissue. For tumors in the brain, a part of the skull is removed and a needle is used to remove tissue. Sometimes, the needle is guided by a computer. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are found, the doctor may remove as much tumor as safely possible during the same surgery. Because it can be hard to tell the difference between types of brain tumors, you may want to have your child's tissue sample checked by a pathologist who has experience in diagnosing brain tumors. The following test may be done on the tissue that was removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. An MIB-1 test is a type of immunohistochemistry that checks tumor tissue for an antigen called MIB-1. This may show how fast a tumor is growing. Sometimes tumors form in a place that makes them hard to remove. If removing the tumor may cause severe physical, emotional, or learning problems, a biopsy is done and more treatment is given after the biopsy. Children who have NF1 may form a low-grade astrocytoma in the area of the brain that controls vision and may not need a biopsy. If the tumor does not continue to grow or symptoms do not occur, surgery to remove the tumor may not be needed.

Question: Who is at risk for Heart Attack? ? Answer:

Lowering your risk factors for coronary heart disease (CHD) can help you prevent a heart attack. Even if you already have CHD or have already had a heart attack, you can still take steps to lower your risk. These steps involve following a heart healthy lifestyle and getting ongoing care for conditions that raise your risk. Heart Healthy Lifestyle Changes You can make these lifestyle changes to lower your risk of having a heart attack. - If you smoke, quit. - Maintain a healthy weight. - Be as physically active as you can. - Follow a heart healthy diet. If you smoke, quit. Maintain a healthy weight. Be as physically active as you can. Follow a heart healthy diet. If you smoke, quit. Smoking can raise your risk of CHD and heart attack. Talk with your doctor about programs and products that can help you quit. Also, try to avoid secondhand smoke. Maintain a healthy weight. If you're overweight or obese, work with your doctor to create a reasonable weight-loss plan that involves diet and physical activity. Controlling your weight helps you control risk factors for coronary heart disease (CHD) and heart attack. Be as physically active as you can. Physical activity can improve your fitness level and your health. Talk with your doctor about what types of activity are safe for you. Follow a heart healthy diet. Following a healthy diet is an important part of a heart healthy lifestyle. Eat a healthy diet to prevent or reduce high blood pressure and high blood cholesterol, and to maintain a healthy weight. A healthy diet includes a variety of fruits, vegetables, and whole grains. It also includes lean meats, poultry, fish, beans, and fat-free or low-fat milk or milk products. A healthy diet is low in saturated fat, trans fat, cholesterol, sodium (salt), and added sugars. For More Information About Healthy Eating For more information about following a healthy diet, go to the National Heart, Lung, and Blood Institute's (NHLBI's) Aim for a Healthy Weight Web site, Your Guide to a Healthy Heart, and Your Guide to Lowering Your Blood Pressure With DASH. In addition, a variety of heart healthy recipes to help you plan meals is available at Aim for a Healthy Weight. All of these resources provide general information about healthy eating. Treatment for Related Conditions Get treatment for related conditions that make having a heart attack more likely. - If you have high blood cholesterol, follow your doctor's advice about lowering it. Take medications to lower your cholesterol as directed if diet and exercise aren't enough. - If you have high blood pressure, follow your doctor's advice about keeping it under control. Take blood pressure medications as directed. - If you have diabetes, sometimes called high blood sugar, try to control your blood sugar level through diet and physical activity (as your doctor recommends). If needed, take medicine as prescribed. If you have high blood cholesterol, follow your doctor's advice about lowering it. Take medications to lower your cholesterol as directed if diet and exercise aren't enough. If you have high blood pressure, follow your doctor's advice about keeping it under control. Take blood pressure medications as directed. If you have diabetes, sometimes called high blood sugar, try to control your blood sugar level through diet and physical activity (as your doctor recommends). If needed, take medicine as prescribed.

Question: What are the symptoms of Sotos syndrome ? Answer:

What are the signs and symptoms of Sotos syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sotos syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Accelerated skeletal maturation 90% Cognitive impairment 90% Depressed nasal ridge 90% Frontal bossing 90% High forehead 90% Hypertelorism 90% Macrocephaly 90% Macrotia 90% Mandibular prognathia 90% Tall stature 90% Advanced eruption of teeth 50% Anteverted nares 50% Conductive hearing impairment 50% Dolichocephaly 50% Hypoglycemia 50% Obesity 50% Precocious puberty 50% Abnormality of the fingernails 7.5% Abnormality of the hip bone 7.5% Abnormality of the ureter 7.5% Behavioral abnormality 7.5% Coarse facial features 7.5% Craniosynostosis 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% EEG abnormality 7.5% Genu valgum 7.5% Genu varum 7.5% Hyperreflexia 7.5% Neoplasm of the nervous system 7.5% Patent ductus arteriosus 7.5% Polycystic kidney dysplasia 7.5% Presacral teratoma 7.5% Scoliosis 7.5% Seizures 7.5% Strabismus 7.5% Abnormal glucose tolerance - Atria septal defect - Autosomal dominant inheritance - Cavum septum pellucidum - Enlarged cisterna magna - Expressive language delay - High anterior hairline - High palate - Hypermetropia - Intellectual disability - Joint laxity - Large hands - Long foot - Narrow palate - Neonatal hypotonia - Nephroblastoma (Wilms tumor) - Nystagmus - Otitis media - Partial agenesis of the corpus callosum - Pes planus - Pointed chin - Poor coordination - Small nail - Sporadic - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: How to diagnose Dumping Syndrome ? Answer:

A health care provider will diagnose dumping syndrome primarily on the basis of symptoms. A scoring system helps differentiate dumping syndrome from other GI problems. The scoring system assigns points to each symptom and the total points result in a score. A person with a score above 7 likely has dumping syndrome. The following tests may confirm dumping syndrome and exclude other conditions with similar symptoms: - A modified oral glucose tolerance test checks how well insulin works with tissues to absorb glucose. A health care provider performs the test during an office visit or in a commercial facility and sends the blood samples to a lab for analysis. The person should fasteat or drink nothing except waterfor at least 8 hours before the test. The health care provider will measure blood glucose concentration, hematocritthe amount of red blood cells in the bloodpulse rate, and blood pressure before the test begins. After the initial measurements, the person drinks a glucose solution. The health care provider repeats the initial measurements immediately and at 30-minute intervals for up to 180 minutes. A health care provider often confirms dumping syndrome in people with - low blood sugar between 120 and 180 minutes after drinking the solution - an increase in hematocrit of more than 3 percent at 30 minutes - a rise in pulse rate of more than 10 beats per minute after 30 minutes - A gastric emptying scintigraphy test involves eating a bland mealsuch as eggs or an egg substitutethat contains a small amount of radioactive material. A specially trained technician performs this test in a radiology center or hospital, and a radiologista doctor who specializes in medical imaginginterprets the results. Anesthesia is not needed. An external camera scans the abdomen to locate the radioactive material. The radiologist measures the rate of gastric emptying at 1, 2, 3, and 4 hours after the meal. The test can help confirm a diagnosis of dumping syndrome. - An upper GI endoscopy involves using an endoscopea small, flexible tube with a lightto see the upper GI tract. A gastroenterologista doctor who specializes in digestive diseasesperforms the test at a hospital or an outpatient center. The gastroenterologist carefully feeds the endoscope down the esophagus and into the stomach and duodenum. A small camera mounted on the endoscope transmits a video image to a monitor, allowing close examination of the intestinal lining. A person may receive general anesthesia or a liquid anesthetic that is gargled or sprayed on the back of the throat. If the person receives general anesthesia, a health care provider will place an intravenous (IV) needle in a vein in the arm. The test may show ulcers, swelling of the stomach lining, or cancer. - An upper GI series examines the small intestine. An x-ray technician performs the test at a hospital or an outpatient center and a radiologist interprets the images. Anesthesia is not needed. No eating or drinking is allowed before the procedure, as directed by the health care staff. During the procedure, the person will stand or sit in front of an x-ray machine and drink barium, a chalky liquid. Barium coats the small intestine, making signs of a blockage or other complications of gastric surgery show up more clearly on x rays.

Question: How to diagnose Thrombocytopenia ? Answer:

Your doctor will diagnose thrombocytopenia based on your medical history, a physical exam, and test results. A hematologist also may be involved in your care. This is a doctor who specializes in diagnosing and treating blood diseases and conditions. Once thrombocytopenia is diagnosed, your doctor will begin looking for its cause. Medical History Your doctor may ask about factors that can affect your platelets, such as: The medicines you take, including over-the-counter medicines and herbal remedies, and whether you drink beverages that contain quinine. Quinine is a substance often found in tonic water and nutritional health products. Your general eating habits, including the amount of alcohol you normally drink. Your risk for AIDS, including questions about blood transfusions, sexual partners, intravenous (IV) drugs, and exposure to infectious blood or bodily fluids at work. Any family history of low platelet counts. Physical Exam Your doctor will do a physical exam to look for signs and symptoms of bleeding, such as bruises or spots on the skin. He or she will check your abdomen for signs of an enlarged spleen or liver. You also will be checked for signs of infection, such as a fever. Diagnostic Tests Your doctor may recommend one or more of the following tests to help diagnose a low platelet count. For more information about blood tests, go to the Health Topics Blood Tests article. Complete Blood Count A complete blood count (CBC) measures the levels of red blood cells, white blood cells, and platelets in your blood. For this test, a small amount of blood is drawn from a blood vessel, usually in your arm. If you have thrombocytopenia, the results of this test will show that your platelet count is low. Blood Smear A blood smear is used to check the appearance of your platelets under a microscope. For this test, a small amount of blood is drawn from a blood vessel, usually in your arm. Bone Marrow Tests Bone marrow tests check whether your bone marrow is healthy. Blood cells, including platelets, are made in your bone marrow. The two bone marrow tests are aspiration (as-pih-RA-shun) and biopsy. Bone marrow aspiration might be done to find out why your bone marrow isn't making enough blood cells. For this test, your doctor removes a sample of fluid bone marrow through a needle. He or she examines the sample under a microscope to check for faulty cells. A bone marrow biopsy often is done right after an aspiration. For this test, your doctor removes a sample of bone marrow tissue through a needle. He or she examines the tissue to check the number and types of cells in the bone marrow. Other Tests If a bleeding problem is suspected, you may need other blood tests as well. For example, your doctor may recommend PT and PTT tests to see whether your blood is clotting properly. Your doctor also may suggest an ultrasound to check your spleen. An ultrasound uses sound waves to create pictures of your spleen. This will allow your doctor to see whether your spleen is enlarged.

Question: What is (are) 4 Steps to Manage Your Diabetes for Life ? Answer:

What is diabetes? There are three main types of diabetes: - Type 1 diabetes Your body does not make insulin. This is a problem because you need insulin to take the sugar (glucose) from the foods you eat and turn it into energy for your body. You need to take insulin every day to live. - Type 2 diabetes Your body does not make or use insulin well. You may need to take pills or insulin to help control your diabetes. Type 2 is the most common type of diabetes. - Gestational (jest-TAY-shun-al) diabetes Some women get this kind of diabetes when they are pregnant. Most of the time, it goes away after the baby is born. But even if it goes away, these women and their children have a greater chance of getting diabetes later in life. You are the most important member of your health care team. You are the one who manages your diabetes day by day. Talk to your doctor about how you can best care for your diabetes to stay healthy. Some others who can help are: - dentist - diabetes doctor - diabetes educator - dietitian - eye doctor - foot doctor - friends and family - mental health counselor - nurse - nurse practitioner - pharmacist - social worker How to learn more about diabetes. - Take classes to learn more about living with diabetes. To find a class, check with your health care team, hospital, or area health clinic. You can also search online. - Join a support group in-person or online to get peer support with managing your diabetes. - Read about diabetes online. Go to National Diabetes Education Program. Take diabetes seriously. You may have heard people say they have a touch of diabetes or that their sugar is a little high. These words suggest that diabetes is not a serious disease. That is not correct. Diabetes is serious, but you can learn to manage it. People with diabetes need to make healthy food choices, stay at a healthy weight, move more every day, and take their medicine even when they feel good. Its a lot to do. Its not easy, but its worth it! Why take care of your diabetes? Taking care of yourself and your diabetes can help you feel good today and in the future. When your blood sugar (glucose) is close to normal, you are likely to: - have more energy - be less tired and thirsty - need to pass urine less often - heal better - have fewer skin or bladder infections You will also have less chance of having health problems caused by diabetes such as: - heart attack or stroke - eye problems that can lead to trouble seeing or going blind - pain, tingling, or numbness in your hands and feet, also called nerve damage - kidney problems that can cause your kidneys to stop working - teeth and gum problems Actions you can take - Ask your health care team what type of diabetes you have. - Learn where you can go for support. - Learn how caring for your diabetes helps you feel good today and in the future.

Question: What is (are) Disseminated Intravascular Coagulation ? Answer:

Disseminated intravascular coagulation (ko-ag-u-LA-shun), or DIC, is a condition in which blood clots form throughout the body's small blood vessels. These blood clots can reduce or block blood flow through the blood vessels, which can damage the body's organs. In DIC, the increased clotting uses up platelets (PLATE-lets) and clotting factors in the blood. Platelets are blood cell fragments that stick together to seal small cuts and breaks on blood vessel walls and stop bleeding. Clotting factors are proteins needed for normal blood clotting. With fewer platelets and clotting factors in the blood, serious bleeding can occur. DIC can cause internal and external bleeding. Internal bleeding occurs inside the body. External bleeding occurs underneath or from the skin or mucosa. (The mucosa is the tissue that lines some organs and body cavities, such as your nose and mouth.) DIC can cause life-threatening bleeding. Overview To understand DIC, it helps to understand the body's normal blood clotting process. Your body has a system to control bleeding. When small cuts or breaks occur on blood vessel walls, your body activates clotting factors. These clotting factors, such as thrombin and fibrin, work with platelets to form blood clots. Blood clots seal the small cuts or breaks on the blood vessel walls. After bleeding stops and the vessels heal, your body breaks down and removes the clots. Some diseases and conditions can cause clotting factors to become overactive, leading to DIC. These diseases and conditions include: Sepsis (an infection in the bloodstream) Surgery and trauma Cancer Serious complications of pregnancy and childbirth Examples of less common causes of DIC are bites from poisonous snakes (such as rattlesnakes and other vipers), frostbite, and burns. The two types of DIC are acute and chronic. Acute DIC develops quickly (over hours or days) and must be treated right away. The condition begins with excessive blood clotting in the small blood vessels and quickly leads to serious bleeding. Chronic DIC develops slowly (over weeks or months). It lasts longer and usually isn't recognized as quickly as acute DIC. Chronic DIC causes excessive blood clotting, but it usually doesn't lead to bleeding. Cancer is the most common cause of chronic DIC. Treatment for DIC involves treating the clotting and bleeding problems and the underlying cause of the condition. People who have acute DIC may need blood transfusions, medicines, and other life-saving measures. People who have chronic DIC may need medicines to help prevent blood clots from forming in their small blood vessels. Outlook The outlook for DIC depends on its severity and underlying cause. Acute DIC can damage the body's organs and even cause death if it's not treated right away. Chronic DIC also can damage the body's organs. Researchers are looking for ways to prevent DIC or diagnose it early. They're also studying the use of various clotting proteins and medicines to treat the condition.

Question: What are the symptoms of Anophthalmia plus syndrome ? Answer:

What are the signs and symptoms of Anophthalmia plus syndrome? Anophthalmia plus syndrome (APS) may involve malformations in multiple organs of the body including the eyes, ears, nose, face, mouth, brain, sacral vertebrae, meninges (tissue that lines the outer part of the brain and spinal cord), abdominal wall, heart, digits (fingers and toes), and endocrine system. Based on the few cases reported in the literature, it appears that all affected individuals have had anophthalmia (absence of one or both eyes) and/or microphthalmia (abnormally small eyes). It has also been estimated that approximately 89% of affected individuals have had an oral-facial cleft (such as cleft lip and/or cleft palate). Other specific findings that have been reported in more than one affected individual include wide-set eyes (hypertelorism), low-set ears, choanal stenosis or atresia (narrowing or blockage of the nasal passages), sacral neural tube defect, midline abdominal wall defects, clinodactyly (abnormally bent or curved finger), eye colobomas, and congenital glaucoma. There have been other, additional abnormalities that have only been reported in single individuals. The Human Phenotype Ontology provides the following list of signs and symptoms for Anophthalmia plus syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Choanal atresia 50% Cleft palate 50% Facial cleft 50% Hypertelorism 50% Low-set, posteriorly rotated ears 50% Non-midline cleft lip 50% Aplasia/Hypoplasia of the earlobes 7.5% Aplasia/Hypoplasia of the sacrum 7.5% Blepharophimosis 7.5% Cleft eyelid 7.5% Deviation of finger 7.5% Iris coloboma 7.5% Spina bifida 7.5% Vertebral segmentation defect 7.5% Abnormality of the genitourinary system - Abnormality of the vertebral column - Anophthalmia - Autosomal recessive inheritance - Bilateral cleft lip and palate - Macrotia - Microphthalmia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: How to diagnose Von Willebrand Disease ? Answer:

Early diagnosis of von Willebrand disease (VWD) is important to make sure that you're treated and can live a normal, active life. Sometimes VWD is hard to diagnose. People who have type 1 or type 2 VWD may not have major bleeding problems. Thus, they may not be diagnosed unless they have heavy bleeding after surgery or some other trauma. On the other hand, type 3 VWD can cause major bleeding problems during infancy and childhood. So, children who have type 3 VWD usually are diagnosed during their first year of life. To find out whether you have VWD, your doctor will review your medical history and the results from a physical exam and tests. Medical History Your doctor will likely ask questions about your medical history and your family's medical history. He or she may ask about: Any bleeding from a small wound that lasted more than 15 minutes or started up again within the first 7 days following the injury. Any prolonged, heavy, or repeated bleeding that required medical care after surgery or dental extractions. Any bruising with little or no apparent trauma, especially if you could feel a lump under the bruise. Any nosebleeds that occurred for no known reason and lasted more than 10 minutes despite pressure on the nose, or any nosebleeds that needed medical attention. Any blood in your stools for no known reason. Any heavy menstrual bleeding (for women). This bleeding usually involves clots or lasts longer than 7 to 10 days. Any history of muscle or joint bleeding. Any medicines you've taken that might cause bleeding or increase the risk of bleeding. Examples include aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs), clopidogrel, warfarin, or heparin. Any history of liver or kidney disease, blood or bone marrow disease, or high or low blood platelet counts. Physical Exam Your doctor will do a physical exam to look for unusual bruising or other signs of recent bleeding. He or she also will look for signs of liver disease or anemia (a low red blood cell count). Diagnostic Tests No single test can diagnose VWD. Your doctor may recommend one or more blood tests to diagnose the disorder. These tests may include: Von Willebrand factor antigen. This test measures the amount of von Willebrand factor in your blood. Von Willebrand factor ristocetin (ris-to-SEE-tin) cofactor activity. This test shows how well your von Willebrand factor works. Factor VIII clotting activity. This test checks the clotting activity of factor VIII. Some people who have VWD have low levels of factor VIII activity, while others have normal levels. Von Willebrand factor multimers. This test is done if one or more of the first three tests are abnormal. It shows the structure of your von Willebrand factor. The test helps your doctor diagnose what type of VWD you have. Platelet function test. This test measures how well your platelets are working. You may have these tests more than once to confirm a diagnosis. Your doctor also may refer you to a hematologist to confirm the diagnosis and for followup care. A hematologist is a doctor who specializes in diagnosing and treating blood disorders.

Question: How to diagnose Childhood Extracranial Germ Cell Tumors ? Answer:

Imaging studies and blood tests are used to detect (find) and diagnose childhood extracranial germ cell tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. The testicles may be checked for lumps, swelling, or pain. A history of the patient's health habits and past illnesses and treatments will also be taken. - Serum tumor marker test : A procedure in which a sample of blood is checked to measure the amounts of certain substances released into the blood by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the blood. These are called tumor markers. Most malignant germ cell tumors release tumor markers. The following tumor markers are used to detect extracranial germ cell tumors: - Alpha-fetoprotein (AFP). - Beta-human chorionic gonadotropin (-hCG). For testicular germ cell tumors, blood levels of the tumor markers help show if the tumor is a seminoma or nonseminoma. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. In some cases, the tumor is removed during surgery and then a biopsy is done. The following tests may be done on the sample of tissue that is removed: - Cytogenetic analysis : A laboratory test in which cells in a sample of tissue are viewed under a microscope to look for certain changes in the chromosomes. - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer.

Question: How to diagnose Diabetic Heart Disease ? Answer:

Your doctor will diagnose diabetic heart disease (DHD) based on your signs and symptoms, medical and family histories, a physical exam, and the results from tests and procedures. Doctors and researchers are still trying to find out whether routine testing for DHD will benefit people who have diabetes but no heart disease symptoms. Initial Tests No single test can diagnose DHD, which may involve coronary heart disease (CHD), heart failure, and/or diabetic cardiomyopathy. Initially, your doctor may recommend one or more of the following tests. Blood Pressure Measurement To measure your blood pressure, your doctor or nurse will use some type of a gauge, a stethoscope (or electronic sensor), and a blood pressure cuff. Most often, you'll sit or lie down with the cuff around your arm as your doctor or nurse checks your blood pressure. If he or she doesn't tell you what your blood pressure numbers are, you should ask. Blood Tests Blood tests check the levels of certain fats, cholesterol, sugar, and proteins in your blood. Abnormal levels of these substances may show that you're at risk for DHD. A blood test also can check the level of a hormone called BNP (brain natriuretic peptide) in your blood. The heart makes BNP, and the level of BNP rises during heart failure. Chest X Ray A chest x ray takes pictures of the organs and structures inside your chest, such as your heart, lungs, and blood vessels. A chest x ray can reveal signs of heart failure. EKG (Electrocardiogram) An EKG is a simple, painless test that detects and records your heart's electrical activity. The test shows how fast your heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through your heart. An EKG can show signs of heart damage due to CHD and signs of a previous or current heart attack. Stress Test Some heart problems are easier to diagnose when your heart is working hard and beating fast. Stress testing gives your doctor information about how your heart works during physical stress. During a stress test, you exercise (walk or run on a treadmill or pedal a bicycle) to make your heart work hard and beat fast. Tests are done on your heart while you exercise. If you cant exercise, you may be given medicine to raise your heart rate. Urinalysis For this test, you'll give a sample of urine for analysis. The sample is checked for abnormal levels of protein or blood cells. In people who have diabetes, protein in the urine is a risk factor for DHD. Other Tests and Procedures Your doctor may refer you to a cardiologist if your initial test results suggest that you have a form of DHD. A cardiologist is a doctor who specializes in diagnosing and treating heart diseases and conditions. The cardiologist may recommend other tests or procedures to get more detailed information about the nature and extent of your DHD. For more information about other tests and procedures, go to the diagnosis sections of the Health Topics Coronary Heart Disease, Heart Failure, and Cardiomyopathy articles.

Question: What are the symptoms of Cockayne syndrome ? Answer:

What are the signs and symptoms of Cockayne syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the nose 90% Carious teeth 90% Cognitive impairment 90% Cutaneous photosensitivity 90% Deeply set eye 90% Hyperreflexia 90% Hypertonia 90% Incoordination 90% Macrotia 90% Microcephaly 90% Peripheral neuropathy 90% Prematurely aged appearance 90% Retinopathy 90% Sensorineural hearing impairment 90% Short stature 90% Abnormal hair quantity 50% Abnormality of the foot 50% Aplasia/Hypoplasia of the skin 50% Atypical scarring of skin 50% Cerebral calcification 50% Cerebral cortical atrophy 50% Chorioretinal abnormality 50% Decreased nerve conduction velocity 50% Dental malocclusion 50% Disproportionate tall stature 50% EEG abnormality 50% Fine hair 50% Generalized hyperpigmentation 50% Hypertension 50% Kyphosis 50% Large hands 50% Limitation of joint mobility 50% Strabismus 50% Tremor 50% Abnormality of pelvic girdle bone morphology 7.5% Abnormality of retinal pigmentation 7.5% Abnormality of the palate 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Breast aplasia 7.5% Cataract 7.5% Cryptorchidism 7.5% Delayed eruption of teeth 7.5% Glomerulopathy 7.5% Hypertrophic cardiomyopathy 7.5% Nephrotic syndrome 7.5% Optic atrophy 7.5% Oral cleft 7.5% Platyspondyly 7.5% Seizures 7.5% Telangiectasia of the skin 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: How to prevent Parasites - Babesiosis ? Answer:

Steps can be taken to reduce the risk for babesiosis and other tickborne infections. The use of prevention measures is especially important for people at increased risk for severe babesiosis (for example, people who do not have a spleen). Avoiding exposure to tick habitats is the best defense. Babesia microti is spread by Ixodes scapularis ticks, which are mostly found in wooded, brushy, or grassy areas, in certain regions and seasons. No vaccine is available to protect people against babesiosis. However, people who live, work, or travel in tick-infested areas can take simple steps to help protect themselves against tick bites and tickborne infections. During outdoor activities in tick habitats, take precautions to keep ticks off the skin. - Walk on cleared trails and stay in the center of the trail, to minimize contact with leaf litter, brush, and overgrown grasses, where ticks are most likely to be found. - Minimize the amount of exposed skin, by wearing socks, long pants, and a long-sleeved shirt. Tuck the pant legs into the socks, so ticks cannot crawl up the inside of the pants. Wear light-colored clothing, to make it easier to see and remove ticks before they attach to skin. - Apply repellents to skin and clothing. Follow the instructions on the product label. - Products that contain DEET (N,N-diethylmetatoluamide) can be directly applied to exposed skin and to clothing, to help keep ticks away (by repelling them). The product label includes details about how and where to apply the repellent, how often to reapply it, and how to use it safely on children. - Permethrin products can be applied to clothing/boots (not to skin), actually kill ticks that come in contact with the treated clothing, and usually stay effective through several washings. After outdoor activities, conduct daily tick checks and promptly remove any ticks that are found. Thorough, daily tick checks are very important. The I. scapularis nymphs that typically spread B. microti are so small (about the size of a poppy seed) that they are easily overlooked. But they usually must stay attached to a person for more than 36-48 hours to be able to transmit the parasite. - Remove ticks from clothing and pets before going indoors. - Conduct a full-body exam for ticks. Use a hand-held or full-length mirror to view all parts of the body. Be sure to check behind the knees, between the legs (groin/thighs), between the toes, under the arms (armpits), around the waist, inside the belly button, the back of the neck, behind and in the ears, as well as in and around the scalp, hairline, and hair. Remember to check children and pets, too. Remove ticks that are attached to the skin as soon as possible, preferably by using pointed (fine-tipped) tweezers. Grab the tick’s mouth parts close to the skin, and slowly pull the tick straight out (with steady outward pressure), until the tick lets go. More on: Removing Ticks More on: Ticks

Question: What is (are) Hypersensitivity Pneumonitis ? Answer:

Hypersensitivity pneumonitis (noo-mo-NI-tis), or HP, is a disease in which the lungs become inflamed from breathing in foreign substances, such as molds, dusts, and chemicals. These substances also are known as antigens (AN-tih-jens). People are exposed to antigens at home, while at work, and in other settings. However, most people who breathe in these substances don't develop HP. Overview To understand HP, it helps to understand how the lungs work. When you breathe, air passes through your nose and mouth into your windpipe. The air then travels to your lungs' air sacs. These sacs are called alveoli (al-VEE-uhl-eye). Small blood vessels called capillaries run through the walls of the air sacs. When air reaches the air sacs, the oxygen in the air passes through the air sac walls into the blood in the capillaries. The capillaries connect to a network of arteries and veins that move blood through your body. In HP, the air sacs become inflamed and may fill with fluid. This makes it harder for oxygen to pass through the air sacs and into the bloodstream. The two main types of HP are acute (short-term) and chronic (ongoing). Both types can develop as a result of repeatedly breathing in an antigen. Over time, your lungs can become sensitive to that antigen. If this happens, they'll become inflamed, which can lead to symptoms and may even cause long-term lung damage. With acute HP, symptoms usually occur within 29 hours of exposure to an antigen you're sensitive to. Acute HP can cause chills, body aches, coughing, and chest tightness. After hours or days of no contact with the antigen, symptoms usually go away. If acute HP isn't found and treated early, chronic HP may develop. Symptoms of chronic HP occur slowly, over months. Chronic HP can cause a worsening cough, shortness of breath with physical activity, fatigue (tiredness), and weight loss. Severe HP may cause clubbing (a widening and rounding of the tips of the fingers or toes). With chronic HP, symptoms may continue and/or worsen, even after avoiding the antigen. Sometimes, chronic HP can cause long-term lung damage, such as pulmonary fibrosis (PULL-mun-ary fi-BRO-sis). This is a condition in which tissue deep in your lungs becomes scarred over time. Outlook Avoiding or reducing your contact with antigens can help prevent and treat HP. For example, cleaning heating and ventilation filters can help reduce your contact with mold. Wetting compost prior to handling it can reduce contact with harmful dust. If HP is caught early, avoiding the antigen that caused it may be the only treatment you need. If you have chronic HP, your doctor may prescribe medicines to reduce lung inflammation. Researchers continue to study why some people develop HP after being exposed to antigens, while others don't. They're also looking for better ways to quickly pinpoint which antigens are causing HP in people who are believed to have the disease.

Question: What is (are) Metabolic Syndrome ? Answer:

Metabolicsyndrome is the name for a group of risk factors that raises your risk for heart disease and other health problems, such as diabetes and stroke. The term "metabolic" refers to the biochemical processes involved in the body's normal functioning. Risk factors are traits, conditions, or habits that increase your chance of developing a disease. In this article, "heart disease" refers to coronary heart disease (CHD). CHD is a condition in which a waxy substance called plaque builds up inside the coronary (heart) arteries. Plaque hardens and narrows the arteries, reducing blood flow to your heart muscle. This can lead to chest pain, a heart attack, heart damage, or even death. Metabolic Risk Factors The five conditions described below are metabolic risk factors. You can have any one of these risk factors by itself, but they tend to occur together. You must have at least three metabolic risk factors to be diagnosed with metabolic syndrome. A large waistline. This also is called abdominal obesity or "having an apple shape." Excess fat in the stomach area is a greater risk factor for heart disease than excess fat in other parts of the body, such as on the hips. A high triglyceride level (or you're on medicine to treat high triglycerides). Triglycerides are a type of fat found in the blood. A low HDL cholesterol level (or you're on medicine to treat low HDL cholesterol). HDL sometimes is called "good" cholesterol. This is because it helps remove cholesterol from your arteries. A low HDL cholesterol level raises your risk for heart disease. High blood pressure (or you're on medicine to treat high blood pressure). Blood pressure is the force of blood pushing against the walls of your arteries as your heart pumps blood. If this pressure rises and stays high over time, it can damage your heart and lead to plaque buildup. High fasting blood sugar (or you're on medicine to treat high blood sugar). Mildly high blood sugar may be an early sign of diabetes. Overview Your risk for heart disease, diabetes, and stroke increases with the number of metabolic risk factors you have. The risk of having metabolic syndrome is closely linked to overweight and obesity and a lack of physical activity. Insulin resistance also may increase your risk for metabolic syndrome. Insulin resistance is a condition in which the body cant use its insulin properly. Insulin is a hormone that helps move blood sugar into cells where its used for energy. Insulin resistance can lead to high blood sugar levels, and its closely linked to overweight and obesity.Genetics (ethnicity and family history) and older age are other factors that may play a role in causing metabolic syndrome. Outlook Metabolic syndrome is becoming more common due to a rise in obesity rates among adults. In the future, metabolic syndrome may overtake smoking as the leading risk factor for heart disease. It is possible to prevent or delay metabolic syndrome, mainly with lifestyle changes. A healthy lifestyle is a lifelong commitment. Successfully controlling metabolic syndrome requires long-term effort and teamwork with your health care providers.

Question: What is (are) amyotrophic lateral sclerosis ? Answer:

Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor neurons, which are specialized nerve cells that control muscle movement. These nerve cells are found in the spinal cord and the brain. In ALS, motor neurons die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and an inability to control movement. There are many different types of ALS; these types are distinguished by their signs and symptoms and their genetic cause or lack of clear genetic association. Most people with ALS have a form of the condition that is described as sporadic, which means it occurs in people with no apparent history of the disorder in their family. People with sporadic ALS usually first develop features of the condition in their late fifties or early sixties. A small proportion of people with ALS, estimated at 5 to 10 percent, have a family history of ALS or a related condition called frontotemporal dementia (FTD), which is a progressive brain disorder that affects personality, behavior, and language. The signs and symptoms of familial ALS typically first appear in one's late forties or early fifties. Rarely, people with familial ALS develop symptoms in childhood or their teenage years. These individuals have a rare form of the disorder known as juvenile ALS. The first signs and symptoms of ALS may be so subtle that they are overlooked. The earliest symptoms include muscle twitching, cramping, stiffness, or weakness. Affected individuals may develop slurred speech (dysarthria) and, later, difficulty chewing or swallowing (dysphagia). Many people with ALS experience malnutrition because of reduced food intake due to dysphagia and an increase in their body's energy demands (metabolism) due to prolonged illness. Muscles become weaker as the disease progresses, and arms and legs begin to look thinner as muscle tissue atrophies. Individuals with ALS eventually lose muscle strength and the ability to walk. Affected individuals eventually become wheelchair-dependent and increasingly require help with personal care and other activities of daily living. Over time, muscle weakness causes affected individuals to lose the use of their hands and arms. Breathing becomes difficult because the muscles of the respiratory system weaken. Most people with ALS die from respiratory failure within 2 to 10 years after the signs and symptoms of ALS first appear; however, disease progression varies widely among affected individuals. Approximately 20 percent of individuals with ALS also develop FTD. Changes in personality and behavior may make it difficult for affected individuals to interact with others in a socially appropriate manner. Communication skills worsen as the disease progresses. It is unclear how the development of ALS and FTD are related. Individuals who develop both conditions are diagnosed as having ALS-FTD. A rare form of ALS that often runs in families is known as ALS-parkinsonism-dementia complex (ALS-PDC). This disorder is characterized by the signs and symptoms of ALS, in addition to a pattern of movement abnormalities known as parkinsonism, and a progressive loss of intellectual function (dementia). Signs of parkinsonism include unusually slow movements (bradykinesia), stiffness, and tremors. Affected members of the same family can have different combinations of signs and symptoms.

Question: What are the symptoms of Mandibuloacral dysplasia with type A lipodystrophy ? Answer:

What are the signs and symptoms of Mandibuloacral dysplasia with type A lipodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Mandibuloacral dysplasia with type A lipodystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the clavicle 90% Abnormality of the teeth 90% Alopecia 90% Aplasia/Hypoplasia of the skin 90% Limitation of joint mobility 90% Osteolysis 90% Prematurely aged appearance 90% Short distal phalanx of finger 90% Short stature 90% Wormian bones 90% Abnormality of lipid metabolism 50% Abnormality of the eyebrow 50% Insulin resistance 50% Proptosis 50% Abnormality of skin pigmentation 7.5% Abnormality of the palate 7.5% Arthralgia 7.5% Breast aplasia 7.5% Cataract 7.5% Hearing impairment 7.5% Lack of skin elasticity 7.5% Muscular hypotonia 7.5% Acroosteolysis of distal phalanges (feet) - Autosomal recessive inheritance - Bird-like facies - Calcinosis - Decreased subcutaneous fat - Delayed cranial suture closure - Dental crowding - Dermal atrophy - Flexion contracture - Full cheeks - Glucose intolerance - Heterogeneous - High palate - Hyperglycemia - Hyperinsulinemia - Hyperlipidemia - Hypoplasia of teeth - Increased adipose tissue around the neck - Increased facial adipose tissue - Insulin-resistant diabetes mellitus - Joint stiffness - Juvenile onset - Lipodystrophy - Loss of subcutaneous adipose tissue in limbs - Mottled pigmentation - Narrow nasal ridge - Osteolytic defects of the distal phalanges of the hand - Postnatal growth retardation - Premature loss of teeth - Progressive clavicular acroosteolysis - Short clavicles - Sparse scalp hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Ellis-Van Creveld syndrome ? Answer:

What are the signs and symptoms of Ellis-Van Creveld syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ellis-Van Creveld syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Abnormality of the heart valves 90% Atria septal defect 90% Complete atrioventricular canal defect 90% Genu valgum 90% Hypoplastic toenails 90% Limb undergrowth 90% Narrow chest 90% Short distal phalanx of finger 90% Short thorax 90% Aplasia/Hypoplasia of the lungs 50% Cryptorchidism 50% Intrauterine growth retardation 50% Microdontia 50% Situs inversus totalis 50% Strabismus 50% Ventricular septal defect 50% Abnormal hair quantity 7.5% Abnormality of bone marrow cell morphology 7.5% Abnormality of female internal genitalia 7.5% Acute leukemia 7.5% Cognitive impairment 7.5% Cubitus valgus 7.5% Delayed eruption of teeth 7.5% Delayed skeletal maturation 7.5% Emphysema 7.5% Intellectual disability 7.5% Renal hypoplasia/aplasia 7.5% Synostosis of carpal bones 7.5% Thin vermilion border 7.5% Abnormality of the alveolar ridges - Acetabular spurs - Autosomal recessive inheritance - Capitate-hamate fusion - Cleft upper lip - Common atrium - Cone-shaped epiphyses of phalanges 2 to 5 - Dandy-Walker malformation - Ectodermal dysplasia - Epispadias - Horizontal ribs - Hypodontia - Hypoplastic iliac wing - Hypospadias - Nail dysplasia - Natal tooth - Neonatal short-limb short stature - Pectus carinatum - Postaxial foot polydactyly - Postaxial hand polydactyly - Short long bone - Short ribs - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the stages of Thymoma and Thymic Carcinoma ? Answer:

Key Points - Tests done to detect thymoma or thymic carcinoma are also used to stage the disease. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for thymoma: - Stage I - Stage II - Stage III - Stage IV - Thymic carcinomas have usually spread to other parts of the body when diagnosed. Tests done to detect thymoma or thymic carcinoma are also used to stage the disease. Staging is the process used to find out if cancer has spread from the thymus to other parts of the body. The findings made during surgery and the results of tests and procedures are used to determine the stage of the disease. It is important to know the stage in order to plan treatment. There are three ways that cancer spreads in the body. Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. Cancer may spread from where it began to other parts of the body. When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if thymic carcinoma spreads to the bone, the cancer cells in the bone are actually thymic carcinoma cells. The disease is metastatic thymic carcinoma, not bone cancer. The following stages are used for thymoma: Stage I In stage I, cancer is found only within the thymus. All cancer cells are inside the capsule (sac) that surrounds the thymus. Stage II In stage II, cancer has spread through the capsule and into the fat around the thymus or into the lining of the chest cavity. Stage III In stage III, cancer has spread to nearby organs in the chest, including the lung, the sac around the heart, or large blood vessels that carry blood to the heart. Stage IV Stage IV is divided into stage IVA and stage IVB, depending on where the cancer has spread. - In stage IVA, cancer has spread widely around the lungs and heart. - In stage IVB, cancer has spread to the blood or lymph system. Thymic carcinomas have usually spread to other parts of the body when diagnosed. The staging system used for thymomas is sometimes used for thymic carcinomas.

Question: What are the symptoms of Mitral Valve Prolapse ? Answer:

Most people who have mitral valve prolapse (MVP) aren't affected by the condition. They don't have any symptoms or major mitral valve backflow. When MVP does cause signs and symptoms, they may include: Palpitations (feelings that your heart is skipping a beat, fluttering, or beating too hard or too fast) Shortness of breath Cough Fatigue (tiredness), dizziness, or anxiety Migraine headaches Chest discomfort MVP symptoms can vary from one person to another. They tend to be mild but can worsen over time, mainly when complications occur. Mitral Valve Prolapse Complications MVP complications are rare. When present, they're most often caused by the backflow of blood through the mitral valve. Mitral valve backflow is most common among men and people who have high blood pressure. People who have severe backflow may need valve surgery to prevent complications. Mitral valve backflow causes blood to flow from the left ventricle back into the left atrium. Blood can even back up from the atrium into the lungs, causing shortness of breath. The backflow of blood strains the muscles of both the atrium and the ventricle. Over time, the strain can lead to arrhythmias. Backflow also increases the risk of infective endocarditis (IE). IE is an infection of the inner lining of your heart chambers and valves. Arrhythmias Arrhythmias are problems with the rate or rhythm of the heartbeat. The most common types of arrhythmias are harmless. Other arrhythmias can be serious or even life threatening, such as ventricular arrhythmias. If the heart rate is too slow, too fast, or irregular, the heart may not be able to pump enough blood to the body. Lack of blood flow can damage the brain, heart, and other organs. One troublesome arrhythmia that MVP can cause is atrial fibrillation (AF). In AF, the walls of the atria quiver instead of beating normally. As a result, the atria aren't able to pump blood into the ventricles the way they should. AF is bothersome but rarely life threatening, unless the atria contract very fast or blood clots form in the atria. Blood clots can occur because some blood "pools" in the atria instead of flowing into the ventricles. If a blood clot breaks off and travels through the bloodstream, it can reach the brain and cause a stroke. Infection of the Mitral Valve A deformed mitral valve flap can attract bacteria in the bloodstream. The bacteria attach to the valve and can cause a serious infection called infective endocarditis (IE). Signs and symptoms of a bacterial infection include fever, chills, body aches, and headaches. IE doesn't happen often, but when it does, it's serious. MVP is the most common heart condition that puts people at risk for this infection. If you have MVP, you can take steps to prevent IE. Floss and brush your teeth regularly. Gum infections and tooth decay can cause IE.

Question: What are the symptoms of Cockayne syndrome type II ? Answer:

What are the signs and symptoms of Cockayne syndrome type II? The Human Phenotype Ontology provides the following list of signs and symptoms for Cockayne syndrome type II. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal auditory evoked potentials - Abnormal peripheral myelination - Abnormality of skin pigmentation - Abnormality of the hair - Abnormality of the pinna - Abnormality of visual evoked potentials - Anhidrosis - Arrhythmia - Ataxia - Atypical scarring of skin - Autosomal recessive inheritance - Basal ganglia calcification - Carious teeth - Cataract - Cerebellar calcifications - Cerebral atrophy - Cryptorchidism - Cutaneous photosensitivity - Decreased lacrimation - Decreased nerve conduction velocity - Delayed eruption of primary teeth - Dental malocclusion - Dermal atrophy - Dry hair - Dry skin - Hepatomegaly - Hypermetropia - Hypertension - Hypoplasia of teeth - Hypoplasia of the iris - Hypoplastic iliac wing - Hypoplastic pelvis - Increased cellular sensitivity to UV light - Intellectual disability - Intrauterine growth retardation - Ivory epiphyses of the phalanges of the hand - Kyphosis - Limitation of joint mobility - Loss of facial adipose tissue - Mandibular prognathia - Microcephaly - Microcornea - Micropenis - Microphthalmia - Muscle weakness - Normal pressure hydrocephalus - Nystagmus - Opacification of the corneal stroma - Optic atrophy - Osteoporosis - Patchy demyelination of subcortical white matter - Peripheral dysmyelination - Pigmentary retinopathy - Polyneuropathy - Postnatal growth retardation - Progeroid facial appearance - Proteinuria - Reduced subcutaneous adipose tissue - Renal insufficiency - Seizures - Sensorineural hearing impairment - Severe failure to thrive - Severe short stature - Slender nose - Small for gestational age - Sparse hair - Splenomegaly - Square pelvis bone - Strabismus - Subcortical white matter calcifications - Thickened calvaria - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Leprechaunism ? Answer:

What are the signs and symptoms of Leprechaunism? The Human Phenotype Ontology provides the following list of signs and symptoms for Leprechaunism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Abnormality of the nasal alae 90% Abnormality of the palate 90% Cognitive impairment 90% Decreased body weight 90% Hearing abnormality 90% Hyperinsulinemia 90% Hypertelorism 90% Hypoglycemia 90% Intrauterine growth retardation 90% Long penis 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Proptosis 90% Recurrent respiratory infections 90% Short stature 90% Skeletal muscle atrophy 90% Thick lower lip vermilion 90% Thickened nuchal skin fold 90% Type II diabetes mellitus 90% Abnormality of the liver 50% Delayed skeletal maturation 50% Depressed nasal bridge 50% Feeding difficulties in infancy 50% Female pseudohermaphroditism 50% Gynecomastia 50% Hypertrichosis 50% Lipoatrophy 50% Umbilical hernia 50% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Cryptorchidism 7.5% Microcephaly 7.5% Abdominal distention - Abnormality of the abdominal wall - Acanthosis nigricans - Adipose tissue loss - Autosomal recessive inheritance - Cholestasis - Clitoromegaly - Elfin facies - Fasting hypoglycemia - Gingival overgrowth - Hepatic fibrosis - Hyperglycemia - Hyperkeratosis - Hypermelanotic macule - Large hands - Long foot - Low-set ears - Nail dysplasia - Ovarian cyst - Pancreatic islet-cell hyperplasia - Postnatal growth retardation - Postprandial hyperglycemia - Precocious puberty - Prominent nipples - Recurrent infections - Severe failure to thrive - Small face - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What is (are) Carpenter syndrome ? Answer:

Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly). In severely affected individuals, the abnormal fusion of the skull bones results in a deformity called a cloverleaf skull. Craniosynostosis can cause differences between the two sides of the head and face (craniofacial asymmetry). Early fusion of the skull bones can affect the development of the brain and lead to increased pressure within the skull (intracranial pressure). Premature fusion of the skull bones can cause several characteristic facial features in people with Carpenter syndrome. Distinctive facial features may include a flat nasal bridge, outside corners of the eyes that point downward (down-slanting palpebral fissures), low-set and abnormally shaped ears, underdeveloped upper and lower jaws, and abnormal eye shape. Some affected individuals also have dental abnormalities including small primary (baby) teeth. Vision problems also frequently occur. Abnormalities of the fingers and toes include fusion of the skin between two or more fingers or toes (cutaneous syndactyly), unusually short fingers or toes (brachydactyly), or extra fingers or toes (polydactyly). In Carpenter syndrome, cutaneous syndactyly is most common between the third (middle) and fourth (ring) fingers, and polydactyly frequently occurs next to the big or second toe or the fifth (pinky) finger. People with Carpenter syndrome often have intellectual disability, which can range from mild to profound. However, some individuals with this condition have normal intelligence. The cause of intellectual disability is unknown, as the severity of craniosynostosis does not appear to be related to the severity of intellectual disability. Other features of Carpenter syndrome include obesity that begins in childhood, a soft out-pouching around the belly-button (umbilical hernia), hearing loss, and heart defects. Additional skeletal abnormalities such as deformed hips, a rounded upper back that also curves to the side (kyphoscoliosis), and knees that are angled inward (genu valgum) frequently occur. Nearly all affected males have genital abnormalities, most frequently undescended testes (cryptorchidism). A few people with Carpenter syndrome have organs or tissues within their chest and abdomen that are in mirror-image reversed positions. This abnormal placement may affect several internal organs (situs inversus); just the heart (dextrocardia), placing the heart on the right side of the body instead of on the left; or only the major (great) arteries of the heart, altering blood flow. The signs and symptoms of this disorder vary considerably, even within the same family. The life expectancy for individuals with Carpenter syndrome is shortened but extremely variable. The signs and symptoms of Carpenter syndrome are similar to another genetic condition called Greig cephalopolysyndactyly syndrome. The overlapping features, which include craniosynostosis, polydactyly, and heart abnormalities, can cause these two conditions to be misdiagnosed; genetic testing is often required for an accurate diagnosis.

Question: What are the symptoms of Achondrogenesis ? Answer:

What are the signs and symptoms of Achondrogenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Achondrogenesis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of bone mineral density 90% Anteverted nares 90% Aplasia/Hypoplasia of the lungs 90% Brachydactyly syndrome 90% Frontal bossing 90% Hydrops fetalis 90% Long philtrum 90% Macrocephaly 90% Malar flattening 90% Micromelia 90% Narrow chest 90% Short neck 90% Short nose 90% Short stature 90% Short thorax 90% Short toe 90% Skeletal dysplasia 90% Thickened nuchal skin fold 90% Abnormality of the ribs 50% Polyhydramnios 50% Recurrent fractures 50% Talipes 50% Umbilical hernia 50% Cystic hygroma 7.5% Postaxial hand polydactyly 7.5% Abdominal distention - Abnormal foot bone ossification - Abnormal hand bone ossification - Abnormality of the femoral metaphysis - Abnormality of the foot - Absent or minimally ossified vertebral bodies - Absent vertebral body mineralization - Autosomal dominant inheritance - Autosomal recessive inheritance - Barrel-shaped chest - Beaded ribs - Breech presentation - Broad clavicles - Broad long bones - Cleft palate - Decreased skull ossification - Depressed nasal bridge - Disproportionate short-limb short stature - Disproportionate short-trunk short stature - Edema - Flat face - Horizontal ribs - Hypoplasia of the radius - Hypoplastic ilia - Hypoplastic iliac wing - Hypoplastic ischia - Hypoplastic scapulae - Inguinal hernia - Neonatal short-limb short stature - Protuberant abdomen - Respiratory insufficiency - Short clavicles - Short long bone - Short ribs - Short tubular bones (hand) - Stillbirth - Unossified vertebral bodies - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Nablus mask-like facial syndrome ? Answer:

What are the signs and symptoms of Nablus mask-like facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nablus mask-like facial syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the antihelix 90% Aplasia/Hypoplasia of the eyebrow 90% Behavioral abnormality 90% Blepharophimosis 90% Cryptorchidism 90% Depressed nasal ridge 90% External ear malformation 90% Highly arched eyebrow 90% Lack of skin elasticity 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Pointed helix 90% Sacrococcygeal pilonidal abnormality 90% Telecanthus 90% Abnormality of dental morphology 50% Abnormality of the nipple 50% Camptodactyly of finger 50% Cognitive impairment 50% Limitation of joint mobility 50% Microcephaly 50% Sandal gap 50% Short neck 50% Abnormal hair quantity 7.5% Abnormality of the eyelashes 7.5% Abnormality of the nares 7.5% Cleft palate 7.5% Craniosynostosis 7.5% Finger syndactyly 7.5% Abnormality of the teeth - Autosomal recessive inheritance - Broad neck - Camptodactyly - Clinodactyly - Depressed nasal bridge - Frontal bossing - Frontal upsweep of hair - Happy demeanor - High palate - Hypertelorism - Hypoplasia of the maxilla - Hypoplastic nipples - Joint contracture of the hand - Labial hypoplasia - Low anterior hairline - Low-set ears - Mask-like facies - Micropenis - Narrow forehead - Narrow mouth - Posteriorly rotated ears - Postnatal microcephaly - Prominent glabella - Retrognathia - Short nose - Short palpebral fissure - Smooth philtrum - Sparse eyebrow - Sparse eyelashes - Sporadic - Tapered finger - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Fucosidosis type 1 ? Answer:

What are the signs and symptoms of Fucosidosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Fucosidosis type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Coarse facial features 90% Cognitive impairment 90% Frontal bossing 90% Hearing impairment 90% Hepatomegaly 90% Hyperhidrosis 90% Hyperkeratosis 90% Hypothyroidism 90% Kyphosis 90% Lipoatrophy 90% Mucopolysacchariduria 90% Skeletal dysplasia 90% Abnormality of the gallbladder 50% Hemiplegia/hemiparesis 50% Hypertonia 50% Muscular hypotonia 50% Opacification of the corneal stroma 50% Recurrent respiratory infections 50% Seizures 50% Skeletal muscle atrophy 50% Splenomegaly 50% Abnormal pyramidal signs 7.5% Abnormality of the nail 7.5% Abnormality of the teeth 7.5% Acrocyanosis 7.5% Cardiomegaly 7.5% Abnormality of the abdominal wall - Absent/hypoplastic coccyx - Absent/hypoplastic paranasal sinuses - Angiokeratoma - Anhidrosis - Anterior beaking of lumbar vertebrae - Anterior beaking of thoracic vertebrae - Autosomal recessive inheritance - Barrel-shaped chest - Cerebral atrophy - Cervical platyspondyly - Coxa valga - Dry skin - Dysostosis multiplex - Elevated sweat chloride - Flexion contracture - Hernia - Hypertelorism - Intellectual disability - Lumbar hyperlordosis - Macroglossia - Oligosacchariduria - Polyneuropathy - Prominent forehead - Scoliosis - Shield chest - Short stature - Spastic tetraplegia - Thick eyebrow - Thick lower lip vermilion - Tortuosity of conjunctival vessels - Vacuolated lymphocytes - Wide nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What causes Childhood Nephrotic Syndrome ? Answer:

While idiopathic, or unknown, diseases are the most common cause of primary childhood nephrotic syndrome, researchers have linked certain diseases and some specific genetic changes that damage the kidneys with primary childhood nephrotic syndrome. The cause of secondary childhood nephrotic syndrome is an underlying disease or infection. Called a primary illness, its this underlying disease or infection that causes changes in the kidney function that can result in secondary childhood nephrotic syndrome. Congenital diseasesdiseases that are present at birthcan also cause childhood nephrotic syndrome. Primary Childhood Nephrotic Syndrome The following diseases are different types of idiopathic childhood nephrotic syndrome: - Minimal change disease involves damage to the glomeruli that can be seen only with an electron microscope. This type of microscope shows tiny details better than any other microscope. Scientists do not know the exact cause of minimal change disease. Minimal change disease is the most common cause of idiopathic childhood nephrotic syndrome.1 - Focal segmental glomerulosclerosis is scarring in scattered regions of the kidney: - Focal means that only some of the glomeruli become scarred. - Segmental means damage affects only part of an individual glomerulus. - Membranoproliferative glomerulonephritis is a group of disorders involving deposits of antibodies that build up in the glomeruli, causing thickening and damage. Antibodies are proteins made by the immune system to protect the body from foreign substances such as bacteria or viruses. Secondary Childhood Nephrotic Syndrome Some common diseases that can cause secondary childhood nephrotic syndrome include - diabetes, a condition that occurs when the body cannot use glucosea type of sugarnormally - Henoch-Schnlein purpura, a disease that causes small blood vessels in the body to become inflamed and leak - hepatitis, inflammation of the liver caused by a virus - human immunodeficiency virus (HIV), a virus that alters the immune system - lupus, an autoimmune disease that occurs when the body attacks its own immune system - malaria, a disease of the blood that is spread by mosquitos - streptococcal infection, an infection that results when the bacteria that causes strep throat or a skin infection is left untreated Other causes of secondary childhood nephrotic syndrome can include certain medications, such as aspirin, ibuprofen, or other nonsteroidal anti-inflammatory drugs, and exposure to chemicals, such as mercury and lithium. Congenital Diseases and Childhood Nephrotic Syndrome Congenital nephrotic syndrome is rare and affects infants in the first 3 months of life.2 This type of nephrotic syndrome, sometimes called infantile nephrotic syndrome, can be caused by - inherited genetic defects, which are problems passed from parent to child through genes - infections at the time of birth More information about underlying diseases or infections that cause changes in kidney function is provided in the NIDDK health topic, Glomerular Diseases.

Question: What are the symptoms of Mosaic trisomy 14 ? Answer:

What are the signs and symptoms of Mosaic trisomy 14? The effects of mosaic trisomy 14 can vary considerably among affected individuals. Some children with mosaic trisomy 14 grow into healthy, if small, children. Others may have continued difficulty thriving. Those that have a low percentage of affected cells may have fewer and/or less severe symptoms than those with a high percentage of affected cells. Some of the more commonly reported characteristics of the condition include: intrauterine growth restriction feeding difficulties failure to thrive some degree of developmental delay or intellectual disability slightly asymmetrical growth abnormal skin pigmentation structural defect(s) of the heart such as tetralogy of Fallot minor genital abnormalities in boys such as undescended testes distinctive facial characteristics such as a prominent forehead; widely spaced eyes; a broad nasal bridge; low-set, malformed ears; a small lower jaw; a large mouth and thick lips; eye abnormalities; or abnormality of the roof of the mouth (palate) Skeletal abnormalities have also been reported and include dislocation of the hips; overlapping of certain fingers or toes; and/or other features. The Human Phenotype Ontology provides the following list of signs and symptoms for Mosaic trisomy 14. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of chromosome segregation 90% Cognitive impairment 90% Frontal bossing 90% Prominent nasal bridge 90% Short neck 90% Short stature 90% Wide mouth 90% Anteverted nares 50% Blepharophimosis 50% Cleft palate 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Ectopic anus 50% Hypertelorism 50% Hypoplasia of penis 50% Low-set, posteriorly rotated ears 50% Narrow chest 50% Seizures 50% Single transverse palmar crease 50% Abnormality of the ribs 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Camptodactyly of finger 7.5% Lower limb asymmetry 7.5% Ptosis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: Who is at risk for Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes? ? Answer:

Making big changes in your life is hard, especially if you are faced with more than one change. You can make it easier by taking these steps: - Make a plan to change behavior. - Decide exactly what you will do and give yourself a time frame. - Plan what you need to get ready. - Track your goals and activity on a food and activity tracker, available at http://www.niddk.nih.gov/health-information/health-communication-programs/ndep/health-care-professionals/game-plan/small-steps/Documents/GP_FoodActTracker.pdf (PDF, 349 KB) - Think about what might prevent you from reaching your goals. - Find family and friends who will support and encourage you. - Decide how you will reward yourselfa shopping trip, movie tickets, an afternoon in the parkwhen you do what you have planned. Your doctor, a dietitian, or a counselor can help you make a plan. Be Physically Active Every Day Regular physical activity tackles several risk factors at once. Activity helps you lose weight; keeps your blood glucose, blood pressure, and cholesterol under control; and helps your body use insulin. People in the DPP who were physically active for 30 minutes a day, 5 days a week, reduced their risk of type 2 diabetes. Many chose brisk walking as their physical activity. If you are not fairly active, you should start slowly. First, talk with your doctor about what kinds of physical activity are safe for you. Make a plan to increase your activity level toward the goal of being active at least 30 minutes a day most days of the week. You can increase your level of physical activity in two main ways: 1. Start an exercise program. 2. Increase your daily activity. Start an exercise program. Pick exercises that suit you. Find a friend to walk with you or join an exercise class that will help you keep going. - Do aerobic activities, which use your large muscles to make your heart beat faster. The large muscles are those of the upper and lower arms; upper and lower legs; and those that control head, shoulder, and hip movements. - Do activities to strengthen muscles and bone, such as lifting weights or sit-ups, two to three times a week. Find helpsuch as a video or a classto learn how to do these exercises properly. Increase your daily activity. Choose activities you enjoy. You can work extra activity into your daily routine by doing the following: - Increase daily activity by decreasing time spent watching TV or at the computer. Set up a reminder on your computer to take an activity break. - Take the stairs rather than an elevator or escalator. - Park at the far end of the parking lot and walk. - Get off the bus a few stops early and walk the rest of the way. - Walk or bicycle whenever you can. Take Your Prescribed Medicines Some people need medicine to help control their blood pressure or cholesterol levels. If you do, take your medicines as directed. Ask your doctor if you should take metformin to prevent type 2 diabetes. Metformin is a medicine that makes insulin work better and can reduce the risk of type 2 diabetes.

Question: What is (are) Paranasal Sinus and Nasal Cavity Cancer ? Answer:

Key Points - Paranasal sinus and nasal cavity cancer is a disease in which malignant (cancer) cells form in the tissues of the paranasal sinuses and nasal cavity. - Different types of cells in the paranasal sinus and nasal cavity may become malignant. - Being exposed to certain chemicals or dust in the workplace can increase the risk of paranasal sinus and nasal cavity cancer. - Signs of paranasal sinus and nasal cavity cancer include sinus problems and nosebleeds. - Tests that examine the sinuses and nasal cavity are used to detect (find) and diagnose paranasal sinus and nasal cavity cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. Paranasal sinus and nasal cavity cancer is a disease in which malignant (cancer) cells form in the tissues of the paranasal sinuses and nasal cavity. Paranasal sinuses "Paranasal" means near the nose. The paranasal sinuses are hollow, air-filled spaces in the bones around the nose. The sinuses are lined with cells that make mucus, which keeps the inside of the nose from drying out during breathing. There are several paranasal sinuses named after the bones that surround them: - The frontal sinuses are in the lower forehead above the nose. - The maxillary sinuses are in the cheekbones on either side of the nose. - The ethmoid sinuses are beside the upper nose, between the eyes. - The sphenoid sinuses are behind the nose, in the center of the skull. Nasal cavity The nose opens into the nasal cavity, which is divided into two nasal passages. Air moves through these passages during breathing. The nasal cavity lies above the bone that forms the roof of the mouth and curves down at the back to join the throat. The area just inside the nostrils is called the nasal vestibule. A small area of special cells in the roof of each nasal passage sends signals to the brain to give the sense of smell. Together the paranasal sinuses and the nasal cavity filter and warm the air, and make it moist before it goes into the lungs. The movement of air through the sinuses and other parts of the respiratory system help make sounds for talking. Paranasal sinus and nasal cavity cancer is a type of head and neck cancer. Different types of cells in the paranasal sinus and nasal cavity may become malignant. The most common type of paranasal sinus and nasal cavity cancer is squamous cell carcinoma. This type of cancer forms in the squamous cells (thin, flat cells) lining the inside of the paranasal sinuses and the nasal cavity. Other types of paranasal sinus and nasal cavity cancer include the following: - Melanoma: Cancer that starts in cells called melanocytes, the cells that give skin its natural color. - Sarcoma: Cancer that starts in muscle or connective tissue. - Inverting papilloma: Benign tumors that form inside the nose. A small number of these change into cancer. - Midline granulomas: Cancer of tissues in the middle part of the face.

Question: What are the treatments for Parkinson's Disease ? Answer:

Deep Brain Stimulation Deep brain stimulation, or DBS, is a surgical procedure used to treat a variety of disabling disorders. It is most commonly used to treat the debilitating symptoms of Parkinsons disease. Deep brain stimulation uses an electrode surgically implanted into part of the brain. The electrodes are connected by a wire under the skin to a small electrical device called a pulse generator that is implanted in the chest. The pulse generator and electrodes painlessly stimulate the brain in a way that helps to stop many of the symptoms of Parkinson's such as tremor, bradykinesia, and rigidity. DBS is primarily used to stimulate one of three brain regions: the subthalamic nucleus, the globus pallidus, or the thalamus. Researchers are exploring optimal generator settings for DBS, whether DBS of other brain regions will also improve symptoms of Parkinsons disease, and also whether DBS may slow disease progression. Deep brain stimulation usually reduces the need for levodopa and related drugs, which in turn decreases dyskinesias and other side effects. It also helps to relieve on-off fluctuation of symptoms. People who respond well to treatment with levodopa tend to respond well to DBS. Unfortunately, older people who have only a partial response to levodopa may not improve with DBS. Complementary and Supportive Therapies A wide variety of complementary and supportive therapies may be used for Parkinson's disease. Among these therapies are standard physical, occupational, and speech therapies, which help with gait and voice disorders, tremors and rigidity, and decline in mental functions. Other supportive therapies include diet and exercise. Diet At this time there are no specific vitamins, minerals, or other nutrients that have any proven therapeutic value in Parkinson's disease. Some early reports have suggested that dietary supplements might protect against Parkinson's. Also, a preliminary clinical study of a supplement called coenzyme Q10 suggested that large doses of this substance might slow disease progression in people with early-stage Parkinson's. This supplement is now being tested in a large clinical trial. Other studies are being conducted to find out if caffeine, antioxidants, nicotine, and other dietary factors may help prevent or treat the disease. While there is currently no proof that any specific dietary factor is beneficial, a normal, healthy diet can promote overall well-being for people with Parkinson's disease, just as it would for anyone else. A high protein meal, however, may limit levodopa's effectiveness because for a time afterwards less levodopa passes through the blood-brain barrier. Exercise Exercise can help people with Parkinson's improve their mobility and flexibility. It can also improve their emotional well-being. Exercise may improve the brain's dopamine production or increase levels of beneficial compounds called neurotrophic factors in the brain. Other Therapies Other complementary therapies include massage therapy, yoga, tai chi, hypnosis, acupuncture, and the Alexander technique, which improves posture and muscle activity. There have been limited studies suggesting mild benefits from some of these therapies, but they do not slow Parkinson's disease and to date there is no convincing evidence that they help. However, this remains an active area of investigation.

Question: what research (or clinical trials) is being done for Skin Cancer ? Answer:

Many Areas of Research Scientists are constantly searching for new ways to detect skin cancer, assess risk, and predict patient outcomes. They are interested in finding new treatments and new ways to deliver drugs and radiation. As scientists get a better understanding of what causes skin cancer and what genetic and environmental factors play a role, they should be able to design new drugs to hinder the development of cancer. Clinical trials are designed to answer important questions and to find out whether new approaches are safe and effective. Research has already led to advances, such as photodynamic therapy, and researchers continue to search for better ways to prevent and treat skin cancer. Researching Techniques to Deliver Drugs One area that scientists are working on is development of techniques for delivering chemotherapy drugs directly to the area around the tumor, rather than sending the chemotherapy through the entire body. One of these techniques is called hyperthermic isolated limb perfusion. Hyperthermic isolated limb perfusion sends a warm solution containing anti-cancer drugs directly to the arm or leg in which the cancer is located. A tourniquet is used to temporarily cut off the blood flow while the chemotherapy drugs are injected directly into the limb. This allows the patient to receive a high dose of drugs only in the area where the cancer occurred. Genetic Research For basal cell carcinoma and squamous cell carcinoma, researchers are studying gene changes that may be risk factors for the disease. They also are comparing combinations of biological therapy and surgery to treat basal cell cancer. Discovering links between inherited genes, environmental factors, and skin cancer is another area of research that might provide scientists with insight they can use to screen people to determine their risk for the disease. Recently, scientists at the National Cancer Institute (NCI) found one genetic link that dramatically increases the chance of developing melanoma. Research on Melanoma Treatments Other studies are currently exploring new treatment options for melanoma. One recent study discovered a protein that may help block the development and spread of melanoma. This discovery could lead to a new treatment for melanoma patients in the future. Several other studies are examining the potential for using vaccines to treat melanoma. An Advance in Treating Melanoma In June of 2011, an important advance in treating melanoma was announced at an annual cancer meeting. A drug called ipilimumab was approved for treating the disease, and it works differently than traditional chemotherapy. It uses immunotherapy to help the immune system recognize and reject cancer cells. When its successful, immunotherapy can lead to complete reversal of even advanced disease. Some patients with stage IV metastatic disease who were treated in early immunotherapy trials after other therapies were unsuccessful are still in complete remission more than 20 years later. Vaccine Research Traditional vaccines are designed to prevent diseases in healthy people by teaching the body to recognize and attack a virus or bacteria it may encounter in the future. Cancer vaccines, however, are given to people who already have cancer. These vaccines stimulate the immune system to fight against cancer by stopping its growth, shrinking a tumor, or killing the cancer cells that were not killed by other forms of treatment. Developing a vaccine against a tumor such as melanoma is more complicated than developing a vaccine to fight a virus. Clinical trials are in progress at the National Cancer Institute and other institutions to test the effectiveness of treating stage III or stage IV melanoma patients with vaccines.

Question: What is (are) spinal muscular atrophy ? Answer:

Spinal muscular atrophy is a genetic disorder that affects the control of muscle movement. It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). The loss of motor neurons leads to weakness and wasting (atrophy) of muscles used for activities such as crawling, walking, sitting up, and controlling head movement. In severe cases of spinal muscular atrophy, the muscles used for breathing and swallowing are affected. There are many types of spinal muscular atrophy distinguished by the pattern of features, severity of muscle weakness, and age when the muscle problems begin. Type I spinal muscular atrophy (also called Werdnig-Hoffman disease) is a severe form of the disorder that is evident at birth or within the first few months of life. Affected infants are developmentally delayed; most are unable to support their head or sit unassisted. Children with this type have breathing and swallowing problems that may lead to choking or gagging. Type II spinal muscular atrophy is characterized by muscle weakness that develops in children between ages 6 and 12 months. Children with type II can sit without support, although they may need help getting to a seated position. Individuals with this type of spinal muscular atrophy cannot stand or walk unaided. Type III spinal muscular atrophy (also called Kugelberg-Welander disease or juvenile type) has milder features that typically develop between early childhood and adolescence. Individuals with type III spinal muscular atrophy can stand and walk unaided, but walking and climbing stairs may become increasingly difficult. Many affected individuals will require wheelchair assistance later in life. The signs and symptoms of type IV spinal muscular atrophy often occur after age 30. Affected individuals usually experience mild to moderate muscle weakness, tremor, twitching, or mild breathing problems. Typically, only muscles close to the center of the body (proximal muscles), such as the upper arms and legs, are affected in type IV spinal muscular atrophy. The features of X-linked spinal muscular atrophy appear in infancy and include severe muscle weakness and difficulty breathing. Children with this type often have joint deformities (contractures) that impair movement. In severe cases, affected infants are born with broken bones. Poor muscle tone before birth may contribute to the contractures and broken bones seen in these children. Spinal muscular atrophy, lower extremity, dominant (SMA-LED) is characterized by leg muscle weakness that is most severe in the thigh muscles (quadriceps). This weakness begins in infancy or early childhood and progresses slowly. Affected individuals often have a waddling or unsteady walk and have difficulty rising from a seated position and climbing stairs. An adult-onset form of spinal muscular atrophy that begins in early to mid-adulthood affects the proximal muscles and is characterized by muscle cramping of the limbs and abdomen, weakness in the leg muscles, involuntary muscle contractions, tremors, and a protrusion of the abdomen thought to be related to muscle weakness. Some affected individuals experience difficulty swallowing and problems with bladder and bowel function.

Question: What is (are) Childhood Acute Lymphoblastic Leukemia ? Answer:

Key Points - Childhood acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many immature lymphocytes (a type of white blood cell). - Leukemia may affect red blood cells, white blood cells, and platelets. - Past treatment for cancer and certain genetic conditions affect the risk of having childhood ALL. - Signs of childhood ALL include fever and bruising. - Tests that examine the blood and bone marrow are used to detect (find) and diagnose childhood ALL. - Certain factors affect prognosis (chance of recovery) and treatment options. Childhood acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many immature lymphocytes (a type of white blood cell). Childhood acute lymphoblastic leukemia (also called ALL or acute lymphocytic leukemia) is a cancer of the blood and bone marrow. This type of cancer usually gets worse quickly if it is not treated. ALL is the most common type of cancer in children. Leukemia may affect red blood cells, white blood cells, and platelets. In a healthy child, the bone marrow makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A myeloid stem cell becomes one of three types of mature blood cells: - Red blood cells that carry oxygen and other substances to all tissues of the body. - Platelets that form blood clots to stop bleeding. - White blood cells that fight infection and disease. A lymphoid stem cell becomes a lymphoblast cell and then one of three types of lymphocytes (white blood cells): - B lymphocytes that make antibodies to help fight infection. - T lymphocytes that help B lymphocytes make the antibodies that help fight infection. - Natural killer cells that attack cancer cells and viruses. In a child with ALL, too many stem cells become lymphoblasts, B lymphocytes, or T lymphocytes. The cells do not work like normal lymphocytes and are not able to fight infection very well. These cells are cancer (leukemia) cells. Also, as the number of leukemia cells increases in the blood and bone marrow, there is less room for healthy white blood cells, red blood cells, and platelets. This may lead to infection, anemia, and easy bleeding. This summary is about acute lymphoblastic leukemia in children, adolescents, and young adults. See the following PDQ summaries for information about other types of leukemia: - Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment - Adult Acute Lymphoblastic Leukemia Treatment - Chronic Lymphocytic Leukemia Treatment - Adult Acute Myeloid Leukemia Treatment - Chronic Myelogenous Leukemia Treatment - Hairy Cell Leukemia Treatment

Question: What causes Heart Failure ? Answer:

Conditions that damage or overwork the heart muscle can cause heart failure. Over time, the heart weakens. It isnt able to fill with and/or pump blood as well as it should. As the heart weakens, certain proteins and substances might be released into the blood. These substances have a toxic effect on the heart and blood flow, and they worsen heart failure. Causes of heart failure include: Coronary heart disease Diabetes High blood pressure Other heart conditions or diseases Other factors Coronary Heart Disease Coronary heart disease is a condition in which a waxy substance called plaque builds up inside the coronary arteries. These arteries supply oxygen-rich blood to your heart muscle. Plaque narrows the arteries and reduces blood flow to your heart muscle. The buildup of plaque also makes it more likely that blood clots will form in your arteries. Blood clots can partially or completely block blood flow. Coronary heart disease can lead to chest pain or discomfort calledangina, aheart attack, and heart damage. Diabetes Diabetes is a disease in which the bodys blood glucose (sugar) level is too high. The body normally breaks down food into glucose and then carries it to cells throughout the body. The cells use a hormone called insulin to turn the glucose into energy. In diabetes, the body doesnt make enough insulin or doesnt use its insulin properly. Over time, high blood sugar levels can damage and weaken the heart muscle and the blood vessels around the heart, leading to heart failure. High Blood Pressure Blood pressure is the force of blood pushing against the walls of the arteries. If this pressure rises and stays high over time, it can weaken your heart and lead to plaque buildup. Blood pressure is considered high if it stays at or above 140/90 mmHg over time. (The mmHg is millimeters of mercurythe units used to measure blood pressure.) If you have diabetes or chronic kidney disease, high blood pressure is defined as 130/80 mmHg or higher. Other Heart Conditions or Diseases Other conditions and diseases also can lead to heart failure, such as: Arrhythmia. Happens when a problem occurs with the rate or rhythm of the heartbeat. Cardiomyopathy.Happens when the heart muscle becomes enlarged, thick, or rigid. Congenital heart defects. Problems with the hearts structure are present at birth. Heart valve disease. Occurs if one or more of your heart valves doesnt work properly, which can be present at birth or caused by infection, other heart conditions, and age. Other Factors Other factors also can injure the heart muscle and lead to heart failure. Examples include: Alcohol abuse or cocaine and other illegal drug use HIV/AIDS Thyroid disorders (having either too much or too little thyroid hormone in the body) Too much vitamin E Treatments for cancer, such as radiation and chemotherapy

Question: What are the symptoms of Megalocornea-intellectual disability syndrome ? Answer:

What are the signs and symptoms of Megalocornea-intellectual disability syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Megalocornea-intellectual disability syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of immune system physiology 90% Cognitive impairment 90% Frontal bossing 90% Megalocornea 90% Muscular hypotonia 90% Neurological speech impairment 90% Abnormality of the anterior chamber 50% Abnormality of the palate 50% Aplasia/Hypoplasia of the iris 50% Epicanthus 50% Genu varum 50% Hypertelorism 50% Joint hypermobility 50% Kyphosis 50% Myopia 50% Open mouth 50% Scoliosis 50% Seizures 50% Short stature 50% Stereotypic behavior 50% Talipes 50% Tapered finger 50% Wide nasal bridge 50% Abnormality of lipid metabolism 7.5% Abnormality of the pinna 7.5% Astigmatism 7.5% EEG abnormality 7.5% Hypothyroidism 7.5% Incoordination 7.5% Macrocephaly 7.5% Microcephaly 7.5% Nystagmus 7.5% Reduced bone mineral density 7.5% Sensorineural hearing impairment 7.5% Short philtrum 7.5% Underdeveloped supraorbital ridges 7.5% Hypercholesterolemia 5% Osteopenia 5% Arachnodactyly - Ataxia - Autosomal recessive inheritance - Cupped ear - Delayed CNS myelination - Depressed nasal bridge - Dysphagia - Genu recurvatum - Genu valgum - High palate - Hypoplasia of the iris - Intellectual disability - Iridodonesis - Large fleshy ears - Long philtrum - Low anterior hairline - Pes planus - Poor coordination - Primary hypothyroidism - Round face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Familial amyloidosis, Finnish type ? Answer:

What are the signs and symptoms of Familial amyloidosis, Finnish type? Symptoms of this condition usually begin in an individual's 20s or 30s, and they usually emerge in a specific order. The progression is often slow, but varies among individuals. The typical triad of features includes accumulation of amyloid deposits in the cornea (lattice corneal dystrophy), cutis laxa (sagging skin), and nervous system symptoms (neuropathy). Eye symptoms typically begin first. The amyloid deposits cloud the cornea, often leading to vision impairment. Other eye symptoms may include dryness, irritation and light sensitivity. Affected individuals may eventually develop cataracts and glaucoma. As the condition progresses, the nerves become involved (typically in an individual's 40s). Dysfunction of the nerves in the head and face (cranial nerves) causes paralysis of facial muscles and decreased sensation, which can lead to difficulty speaking, chewing, and swallowing. Facial paralysis can also cause additional eye symptoms including ectropium (turning out of the eyelid), corneal ulcers, or droopy eyelids (ptosis). Affected individuals may also have peripheral neuropathy. Central nervous system symptoms such as impaired cognitive function are rare but have been reported in older individuals. Skin manifestations may also begin in a person's 40s and include a thickened, sagging appearance and cutis laxa (loose skin that lacks elasticity), especially on the face. Cutis laxa worsens with age. Other signs and symptoms that have been reported in some people include gastric motility changes, orodental problems, heart palpitations, cardiac conduction problems, and mild proteinuria. The Human Phenotype Ontology provides the following list of signs and symptoms for Familial amyloidosis, Finnish type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the abdomen - Adult onset - Autosomal dominant inheritance - Bulbar palsy - Cardiomyopathy - Cutis laxa - Generalized amyloid deposition - Lattice corneal dystrophy - Nephrotic syndrome - Polyneuropathy - Renal insufficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: How to diagnose Childhood Acute Lymphoblastic Leukemia ? Answer:

Tests that examine the blood and bone marrow are used to detect (find) and diagnose childhood ALL. The following tests and procedures may be used to diagnose childhood ALL and find out if leukemia cells have spread to other parts of the body such as the brain or testicles: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells and platelets. - The number and type of white blood cells. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the sample made up of red blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow and bone under a microscope to look for signs of cancer. The following tests are done on blood or the bone marrow tissue that is removed: - Cytogenetic analysis : A laboratory test in which the cells in a sample of blood or bone marrow are viewed under a microscope to look for certain changes in the chromosomes of lymphocytes. For example, in Philadelphia chromosome positive ALL, part of one chromosome switches places with part of another chromosome. This is called the Philadelphia chromosome. - Immunophenotyping : A laboratory test in which the antigens or markers on the surface of a blood or bone marrow cell are checked to see if they are lymphocytes or myeloid cells. If the cells are malignant lymphocytes (cancer) they are checked to see if they are B lymphocytes or T lymphocytes. - Lumbar puncture : A procedure used to collect a sample of cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that leukemia cells have spread to the brain and spinal cord. This procedure is also called an LP or spinal tap. This procedure is done after leukemia is diagnosed to find out if leukemia cells have spread to the brain and spinal cord. Intrathecal chemotherapy is given after the sample of fluid is removed to treat any leukemia cells that may have spread to the brain and spinal cord. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. The chest x-ray is done to see if leukemia cells have formed a mass in the middle of the chest.

Question: What is (are) Pulmonary Hypertension ? Answer:

Pulmonary hypertension (PULL-mun-ary HI-per-TEN-shun), or PH, is increased pressure in the pulmonary arteries. These arteries carry blood from your heart to your lungs to pick up oxygen. PH causes symptoms such as shortness of breath during routine activity (for example, climbing two flights of stairs), tiredness, chest pain, and a racing heartbeat. As the condition worsens, its symptoms may limit all physical activity. Overview To understand PH, it helps to understand how your heart and lungs work. Your heart has two sides, separated by an inner wall called the septum. Each side of your heart has an upper and lower chamber. The lower right chamber of your heart, the right ventricle (VEN-trih-kul), pumps blood to your pulmonary arteries. The blood then travels to your lungs, where it picks up oxygen. The upper left chamber of your heart, the left atrium (AY-tree-um), receives the oxygen-rich blood from your lungs. The blood is then pumped into the lower left chamber of your heart, the left ventricle. From the left ventricle, the blood is pumped to the rest of your body through an artery called the aorta. For more information about the heart and lungs, go to the Diseases and Conditions Index How the Heart Works and How the Lungs Work articles. PH begins with inflammation and changes in the cells that line your pulmonary arteries. Other factors also can affect the pulmonary arteries and cause PH. For example, the condition may develop if: The walls of the arteries tighten. The walls of the arteries are stiff at birth or become stiff from an overgrowth of cells. Blood clots form in the arteries. These changes make it hard for your heart to push blood through your pulmonary arteries and into your lungs. As a result, the pressure in your arteries rises. Also, because your heart is working harder than normal, your right ventricle becomes strained and weak. Your heart may become so weak that it can't pump enough blood to your lungs. This causes heart failure. Heart failure is the most common cause of death in people who have PH. PH is divided into five groups based on its causes. In all groups, the average pressure in the pulmonary arteries is higher than 25 mmHg at rest or 30 mmHg during physical activity. The pressure in normal pulmonary arteries is 820 mmHg at rest. (The mmHg is millimeters of mercurythe units used to measure blood pressure.) Other diseases or conditions, such as heart and lung diseases or blood clots, usually cause PH. Some people inherit the condition (that is, their parents pass the genes for PH on to them). In some cases, the cause isn't known. Outlook PH has no cure. However, research for new treatments is ongoing. The earlier PH is treated, the easier it is to control. Treatments include medicines, procedures, and other therapies. These treatments can relieve PH symptoms and slow the progress of the disease. Lifestyle changes also can help control symptoms.

Question: What are the symptoms of Seres-Santamaria Arimany Muniz syndrome ? Answer:

What are the signs and symptoms of Seres-Santamaria Arimany Muniz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Seres-Santamaria Arimany Muniz syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the fingernails 90% Abnormality of the nose 90% Abnormality of the palpebral fissures 90% Abnormality of the toenails 90% Coarse hair 90% Hypohidrosis 90% Non-midline cleft lip 90% Abnormality of dental enamel 50% Abnormality of dental morphology 50% Abnormality of the eyelashes 50% Aplasia/Hypoplasia of the eyebrow 50% Cleft palate 50% Generalized hyperpigmentation 50% Palmoplantar keratoderma 50% Reduced number of teeth 50% Abnormality of the pinna 7.5% Abnormality of the voice 7.5% Clinodactyly of the 5th finger 7.5% Conductive hearing impairment 7.5% Delayed eruption of teeth 7.5% Finger syndactyly 7.5% Lacrimation abnormality 7.5% Supernumerary nipple 7.5% Ventricular septal defect 7.5% 2-3 toe syndactyly - Abnormality of the nervous system - Absent eyelashes - Anhidrosis - Ankyloblepharon - Anonychia - Atresia of the external auditory canal - Autosomal dominant inheritance - Blepharitis - Cleft upper lip - Conical tooth - Conjunctivitis - Hyperconvex nail - Hyperpigmentation of the skin - Hypodontia - Hypoplasia of the maxilla - Hypospadias - Lacrimal duct atresia - Micropenis - Nail dystrophy - Oval face - Patchy alopecia - Patent ductus arteriosus - Selective tooth agenesis - Sparse body hair - Sparse eyelashes - Wide nasal bridge - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: How to diagnose Ovarian Epithelial, Fallopian Tube, and Primary Peritoneal Cancer ? Answer:

Tests that examine the ovaries and pelvic area are used to detect (find) and diagnose ovarian, fallopian tube, and peritoneal cancer. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Pelvic exam : An exam of the vagina, cervix, uterus, fallopian tubes, ovaries, and rectum. A speculum is inserted into the vagina and the doctor or nurse looks at the vagina and cervix for signs of disease. A Pap test of the cervix is usually done. The doctor or nurse also inserts one or two lubricated, gloved fingers of one hand into the vagina and places the other hand over the lower abdomen to feel the size, shape, and position of the uterus and ovaries. The doctor or nurse also inserts a lubricated, gloved finger into the rectum to feel for lumps or abnormal areas. - CA 125 assay : A test that measures the level of CA 125 in the blood. CA 125 is a substance released by cells into the bloodstream. An increased CA 125 level can be a sign of cancer or another condition such as endometriosis. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs in the abdomen, and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. Some patients may have a transvaginal ultrasound. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A very small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The tissue is usually removed during surgery to remove the tumor.

Question: What causes Angina ? Answer:

Underlying Causes Angina usually is a symptom of coronary heart disease (CHD). This means that the underlying causes of angina generally are the same as the underlying causes of CHD. Research suggests that CHD starts when certain factors damage the inner layers of the coronary arteries. These factors include: Smoking High amounts of certain fats and cholesterol in the blood High blood pressure High amounts of sugar in the blood due to insulin resistance or diabetes Plaque may begin to build up where the arteries are damaged. When plaque builds up in the arteries, the condition is called atherosclerosis (ath-er-o-skler-O-sis). Plaque narrows or blocks the arteries, reducing blood flow to the heart muscle. Some plaque is hard and stable and causes the arteries to become narrow and stiff. This can greatly reduce blood flow to the heart and cause angina. Other plaque is soft and more likely to rupture (break open) and cause blood clots. Blood clots can partially or totally block the coronary arteries and cause angina or a heart attack. Immediate Causes Many factors can trigger angina pain, depending on the type of angina you have. Stable Angina Physical exertion is the most common trigger of stable angina. Severely narrowed arteries may allow enough blood to reach the heart when the demand for oxygen is low, such as when you're sitting. However, with physical exertionlike walking up a hill or climbing stairsthe heart works harder and needs more oxygen. Other triggers of stable angina include: Emotional stress Exposure to very hot or cold temperatures Heavy meals Smoking Unstable Angina Blood clots that partially or totally block an artery cause unstable angina. If plaque in an artery ruptures, blood clots may form. This creates a blockage. A clot may grow large enough to completely block the artery and cause a heart attack. For more information, go to the animation in "What Causes a Heart Attack?" Blood clots may form, partially dissolve, and later form again. Angina can occur each time a clot blocks an artery. Variant Angina A spasm in a coronary artery causes variant angina. The spasm causes the walls of the artery to tighten and narrow. Blood flow to the heart slows or stops. Variant angina can occur in people who have CHD and in those who dont. The coronary arteries can spasm as a result of: Exposure to cold Emotional stress Medicines that tighten or narrow blood vessels Smoking Cocaine use Microvascular Angina This type of angina may be a symptom of coronary microvascular disease (MVD). Coronary MVD is heart disease that affects the hearts smallest coronary arteries. Reduced blood flow in the small coronary arteries may cause microvascular angina. Plaque in the arteries, artery spasms, or damaged or diseased artery walls can reduce blood flow through the small coronary arteries.

Question: What are the symptoms of Tay-Sachs disease ? Answer:

What are the signs and symptoms of Tay-Sachs disease? The most common form of Tay-Sachs disease begins in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. As the disease progresses, infants develop seizures, vision and hearing loss, mental retardation, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe form of Tay-Sachs disease usually live only into early childhood. Other forms of Tay-Sachs disease are much rarer. Signs and symptoms can begin in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form of Tay-Sachs disease. As in the infantile form, mental abilities and coordination are affected. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease. The Human Phenotype Ontology provides the following list of signs and symptoms for Tay-Sachs disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% Abnormality of the macula 90% Developmental regression 90% EEG abnormality 90% Hearing impairment 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Incoordination 90% Macrocephaly 90% Seizures 90% Hepatomegaly 50% Hypertonia 50% Muscular hypotonia 50% Myotonia 50% Optic atrophy 50% Recurrent respiratory infections 50% Splenomegaly 50% Apathy - Aspiration - Autosomal recessive inheritance - Blindness - Cherry red spot of the macula - Dementia - Exaggerated startle response - GM2-ganglioside accumulation - Infantile onset - Poor head control - Psychomotor deterioration - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Laron syndrome ? Answer:

What are the signs and symptoms of Laron syndrome? Laron syndrome is a rare condition in which the body is unable to use growth hormone. The primary symptom is short stature. Although affected people are generally close to average size at birth, they experience slow growth from early childhood. If left untreated, adult males with Laron syndrome typically reach a maximum height of about 4.5 feet and adult females may be just over 4 feet tall. Other signs and symptoms associated with the condition vary but may include: Reduced muscle strength and endurance Hypoglycemia in infancy Delayed puberty Small genitals Thin, fragile hair Dental abnormalities Short limbs (arms and legs) Obesity Distinctive facial features (protruding forehead, a sunken bridge of the nose, and blue sclerae) People affected by Laron syndrome appear to have a reduced risk of cancer and type 2 diabetes. The Human Phenotype Ontology provides the following list of signs and symptoms for Laron syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Aplasia/Hypoplasia involving the nose 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% High forehead 90% Microdontia 90% Reduced number of teeth 90% Truncal obesity 90% Abnormality of the elbow 50% Brachydactyly syndrome 50% Hypoglycemia 50% Hypoplasia of penis 50% Short toe 50% Skeletal muscle atrophy 50% Underdeveloped supraorbital ridges 50% Abnormality of lipid metabolism 7.5% Abnormality of the voice 7.5% Blue sclerae 7.5% Cognitive impairment 7.5% Depressed nasal ridge 7.5% Hypertrichosis 7.5% Hypohidrosis 7.5% Osteoarthritis 7.5% Prematurely aged appearance 7.5% Abnormal joint morphology - Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Delayed menarche - High pitched voice - Severe short stature - Short long bone - Small face - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of CODAS syndrome ? Answer:

What are the signs and symptoms of CODAS syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CODAS syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of dental enamel 90% Abnormality of dental morphology 90% Abnormality of epiphysis morphology 90% Abnormality of the metacarpal bones 90% Anteverted nares 90% Brachydactyly syndrome 90% Cataract 90% Cognitive impairment 90% Delayed eruption of teeth 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Epicanthus 90% Malar flattening 90% Midline defect of the nose 90% Overfolded helix 90% Short nose 90% Short stature 90% Abnormality of the hip bone 50% Joint hypermobility 50% Muscular hypotonia 50% Ptosis 50% Scoliosis 50% Sensorineural hearing impairment 50% Abnormality of the upper urinary tract 7.5% Extrahepatic biliary duct atresia 7.5% Nystagmus 7.5% Strabismus 7.5% Ventricular septal defect 7.5% Vocal cord paresis 7.5% Anal atresia 5% Cryptorchidism 5% Omphalocele 5% Proximal placement of thumb 5% Rectovaginal fistula 5% Seizures 5% Atria septal defect - Atrioventricular canal defect - Autosomal recessive inheritance - Broad skull - Congenital cataract - Congenital hip dislocation - Coronal cleft vertebrae - Delayed ossification of carpal bones - Genu valgum - Hypoplasia of dental enamel - Hypoplasia of the corpus callosum - Hypoplasia of the odontoid process - Metaphyseal dysplasia - Polyhydramnios - Short humerus - Short metacarpal - Short phalanx of finger - Squared iliac bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Adenylosuccinase deficiency ? Answer:

What are the signs and symptoms of Adenylosuccinase deficiency? The signs and symptoms of adenylosuccinase deficiency vary greatly from person to person. Seizures are observed in 60 percent of affected individuals. Seizures may begin within the first month of life and, in many cases, are the first sign of the condition. Some of the neurological symptoms include floppiness (hypotonia) with severe tension of the hands and feet (hypertonia); muscle wasting; muscle twitchings of the tongue or hands and feet; and crossed eyes (strabismus). Almost all affected individuals experience delayed motor milestones ranging from mild to severe. In the first years of life, growth delay has been observed in 30 percent of affected individuals, mainly related to feeding problems. Autism has been found to be present in one-third of cases. Some children display unusual behavior such as stereotyped behavior, (hand washing movements, repetitive manipulation of toys, grimacing, clapping hands, rubbing feet, and inappropriate laughter), aggressive behavior, temper tantrums, impulsivity, hyperactivity, short attention span, and hypersensitivity to noise and lights. Many patients show severe intellectual disability, and language delay. The Human Phenotype Ontology provides the following list of signs and symptoms for Adenylosuccinase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Happy demeanor 5% Microcephaly 5% Aggressive behavior - Anteverted nares - Autism - Autosomal recessive inheritance - Brachycephaly - Brisk reflexes - Cerebellar atrophy - Cerebral atrophy - Cerebral hypomyelination - CNS hypomyelination - Delayed speech and language development - Gait ataxia - Growth delay - Hyperactivity - Inability to walk - Inappropriate laughter - Infantile onset - Intellectual disability - Long philtrum - Low-set ears - Muscular hypotonia - Myoclonus - Nystagmus - Opisthotonus - Poor eye contact - Prominent metopic ridge - Seizures - Self-mutilation - Severe global developmental delay - Short nose - Skeletal muscle atrophy - Smooth philtrum - Strabismus - Wide mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the stages of Parathyroid Cancer ? Answer:

Key Points - After parathyroid cancer has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - There is no standard staging process for parathyroid cancer. After parathyroid cancer has been diagnosed, tests are done to find out if cancer cells have spread to other parts of the body. The process used to find out if cancer has spread to other parts of the body is called staging. The following imaging tests may be used to determine if cancer has spread to other parts of the body such as the lungs, liver, bone, heart, pancreas, or lymph nodes: - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). There are three ways that cancer spreads in the body. Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. Cancer may spread from where it began to other parts of the body. When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if parathyroid cancer spreads to the lung, the cancer cells in the lung are actually parathyroid cancer cells. The disease is metastatic parathyroid cancer, not lung cancer. There is no standard staging process for parathyroid cancer. Parathyroid cancer is described as either localized or metastatic: - Localized parathyroid cancer is found in a parathyroid gland and may have spread to nearby tissues. - Metastatic parathyroid cancer has spread to other parts of the body, such as the lungs, liver, bone, sac around the heart, pancreas, or lymph nodes.

Question: What is (are) Adult Acute Lymphoblastic Leukemia ? Answer:

Key Points - Adult acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). - Leukemia may affect red blood cells, white blood cells, and platelets. - Previous chemotherapy and exposure to radiation may increase the risk of developing ALL. - Signs and symptoms of adult ALL include fever, feeling tired, and easy bruising or bleeding. - Tests that examine the blood and bone marrow are used to detect (find) and diagnose adult ALL. - Certain factors affect prognosis (chance of recovery) and treatment options. Adult acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). Adult acute lymphoblastic leukemia (ALL; also called acute lymphocytic leukemia) is a cancer of the blood and bone marrow. This type of cancer usually gets worse quickly if it is not treated. Leukemia may affect red blood cells, white blood cells, and platelets. Normally, the bone marrow makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A myeloid stem cell becomes one of three types of mature blood cells: - Red blood cells that carry oxygen and other substances to all tissues of the body. - Platelets that form blood clots to stop bleeding. - Granulocytes (white blood cells) that fight infection and disease. A lymphoid stem cell becomes a lymphoblast cell and then one of three types of lymphocytes (white blood cells): - B lymphocytes that make antibodies to help fight infection. - T lymphocytes that help B lymphocytes make the antibodies that help fight infection. - Natural killer cells that attack cancer cells and viruses. In ALL, too many stem cells become lymphoblasts, B lymphocytes, or T lymphocytes. These cells are also called leukemia cells. These leukemia cells are not able to fight infection very well. Also, as the number of leukemia cells increases in the blood and bone marrow, there is less room for healthy white blood cells, red blood cells, and platelets. This may cause infection, anemia, and easy bleeding. The cancer can also spread to the central nervous system (brain and spinal cord). This summary is about adult acute lymphoblastic leukemia. See the following PDQ summaries for information about other types of leukemia: - Childhood Acute Lymphoblastic Leukemia Treatment. - Adult Acute Myeloid Leukemia Treatment. - Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment. - Chronic Lymphocytic Leukemia Treatment. - Chronic Myelogenous Leukemia Treatment. - Hairy Cell Leukemia Treatment.

Question: What are the symptoms of Rheumatoid Arthritis ? Answer:

Swelling and Pain in the Joints Different types of arthritis have different symptoms. In general, people with most forms of arthritis have pain and stiffness in their joints. Rheumatoid arthritis is characterized by inflammation of the joint lining. This inflammation causes warmth, redness, swelling, and pain around the joints. A person also feels sick, tired, and sometimes feverish. Rheumatoid arthritis generally occurs in a symmetrical pattern. If one knee or hand is affected, the other one is also likely to be affected. Diagnostic Tests Rheumatoid arthritis can be difficult to diagnose in its early stages for several reasons. There is no single test for the disease. In addition, symptoms differ from person to person and can be more severe in some people than in others. Common tests for rheumatoid arthritis include - The rheumatoid factor test. Rheumatoid factor is an antibody that is present eventually in the blood of most people with rheumatoid arthritis However, not all people with rheumatoid arthritis test positive for rheumatoid factor, especially early in the disease. Also, some people who do test positive never develop the disease. The rheumatoid factor test. Rheumatoid factor is an antibody that is present eventually in the blood of most people with rheumatoid arthritis However, not all people with rheumatoid arthritis test positive for rheumatoid factor, especially early in the disease. Also, some people who do test positive never develop the disease. - The citrulline antibody test. This blood test detects antibodies to cyclic citrullinated peptide (anti-CCP). This test is positive in most people with rheumatoid arthritis and can even be positive years before rheumatoid arthritis symptoms develop. When used with the rheumatoid factor test, the citrulline antibody test results are very useful in confirming a rheumatoid arthritis diagnosis. The citrulline antibody test. This blood test detects antibodies to cyclic citrullinated peptide (anti-CCP). This test is positive in most people with rheumatoid arthritis and can even be positive years before rheumatoid arthritis symptoms develop. When used with the rheumatoid factor test, the citrulline antibody test results are very useful in confirming a rheumatoid arthritis diagnosis. Other common tests for rheumatoid arthritis include - the erythrocyte sedimentation rate, which indicates the presence of inflammation in the body - a test for white blood cell count and - a blood test for anemia. the erythrocyte sedimentation rate, which indicates the presence of inflammation in the body a test for white blood cell count and a blood test for anemia. Diagnosis Can Take Time Symptoms of rheumatoid arthritis can be similar to those of other types of arthritis and joint conditions, and it may take some time to rule out other conditions. The full range of symptoms develops over time, and only a few symptoms may be present in the early stages. Learn more about how rheumatoid arthritis is diagnosed.

Question: What is (are) Arrhythmia ? Answer:

Espaol An arrhythmia (ah-RITH-me-ah) is a problem with the rate or rhythm of the heartbeat. During an arrhythmia, the heart can beat too fast, too slow, or with an irregular rhythm. A heartbeat that is too fast is called tachycardia (TAK-ih-KAR-de-ah). A heartbeat that is too slow is called bradycardia (bray-de-KAR-de-ah). Most arrhythmias are harmless, but some can be serious or even life threatening. During an arrhythmia, the heart may not be able to pump enough blood to the body. Lack of blood flow can damage the brain, heart, and other organs. Understanding the Heart's Electrical System To understand arrhythmias, it helps to understand the heart's internal electrical system. The heart's electrical system controls the rate and rhythm of the heartbeat. With each heartbeat, an electrical signal spreads from the top of the heart to the bottom. As the signal travels, it causes the heart to contract and pump blood. Each electrical signal begins in a group of cells called the sinus node or sinoatrial (SA) node. The SA node is located in the heart's upper right chamber, the right atrium (AY-tree-um). In a healthy adult heart at rest, the SA node fires off an electrical signal to begin a new heartbeat 60 to 100 times a minute. From the SA node, the electrical signal travels through special pathways in the right and left atria. This causes the atria to contract and pump blood into the heart's two lower chambers, the ventricles (VEN-trih-kuls). The electrical signal then moves down to a group of cells called the atrioventricular (AV) node, located between the atria and the ventricles. Here, the signal slows down just a little, allowing the ventricles time to finish filling with blood. The electrical signal then leaves the AV node and travels along a pathway called the bundle of His. This pathway divides into a right bundle branch and a left bundle branch. The signal goes down these branches to the ventricles, causing them to contract and pump blood to the lungs and the rest of the body. The ventricles then relax, and the heartbeat process starts all over again in the SA node. (For more information about the heart's electrical system, including detailed animations, go to the Health Topics How the Heart Works article.) A problem with any part of this process can cause an arrhythmia. For example, in atrial fibrillation (A-tre-al fi-bri-LA-shun), a common type of arrhythmia, electrical signals travel through the atria in a fast and disorganized way. This causes the atria to quiver instead of contract. Outlook There are many types of arrhythmia. Most arrhythmias are harmless, but some are not. The outlook for a person who has an arrhythmia depends on the type and severity of the arrhythmia. Even serious arrhythmias often can be successfully treated. Most people who have arrhythmias are able to live normal, healthy lives.

Question: What are the symptoms of Proximal chromosome 18q deletion syndrome ? Answer:

What are the signs and symptoms of Proximal chromosome 18q deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Proximal chromosome 18q deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absence of the pulmonary valve - Aortic valve stenosis - Asthma - Atopic dermatitis - Atresia of the external auditory canal - Atria septal defect - Autosomal dominant inheritance - Bifid uvula - Blepharophimosis - Broad-based gait - Cerebellar hypoplasia - Choanal stenosis - Chorea - Cleft palate - Cleft upper lip - Conductive hearing impairment - Congestive heart failure - Cryptorchidism - Delayed CNS myelination - Depressed nasal bridge - Dilatation of the ascending aorta - Downturned corners of mouth - Dysplastic aortic valve - Dysplastic pulmonary valve - Epicanthus - Failure to thrive in infancy - Flat midface - Growth hormone deficiency - Hypertelorism - Hypoplasia of midface - Hypospadias - Inguinal hernia - Intellectual disability - Joint laxity - Low anterior hairline - Macrotia - Malar flattening - Mandibular prognathia - Microcephaly - Micropenis - Motor delay - Muscular hypotonia - Nystagmus - Optic atrophy - Overlapping toe - Patent ductus arteriosus - Pes cavus - Pes planus - Phenotypic variability - Poor coordination - Prominent nose - Proximal placement of thumb - Recurrent respiratory infections - Rocker bottom foot - Scoliosis - Secretory IgA deficiency - Seizures - Sensorineural hearing impairment - Short neck - Short palpebral fissure - Short philtrum - Short stature - Sporadic - Stenosis of the external auditory canal - Strabismus - Talipes equinovarus - Tapetoretinal degeneration - Toe syndactyly - Tremor - Umbilical hernia - U-Shaped upper lip vermilion - Ventricular septal defect - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Myoclonic epilepsy with ragged red fibers ? Answer:

What are the signs and symptoms of Myoclonic epilepsy with ragged red fibers? Because muscle cells and nerve cells have especially high energy needs, muscular and neurological problems are common features of diseases that affect the mitochondria. MERRF is a progressive multi-system syndrome with symptoms that begin during childhood, but onset may occur in adulthood. The rate of progression varies widely. Onset and extent of symptoms can differ widely from individual to individual and among affected siblings. The classic features of MERRF include: Myoclonus (brief, sudden, twitching muscle spasms) the most characteristic symptom Epileptic seizures Ataxia (impaired coordination) Ragged-red fibers (a characteristic microscopic abnormality observed in muscle biopsy of patients with MERRF and other mitochondrial disorders) Additional symptoms may include: hearing loss, lactic acidosis (elevated lactic acid level in the blood), short stature, exercise intolerance, dementia, cardiac defects, eye abnormalities, and speech impairment. However, the exact symptoms aren't the same for everyone, because a person with mitochondrial disease can have a unique mixture of healthy and non-working mitochondria, with a unique distribution in the body. Despite their many potential effects, mitochondrial diseases sometimes cause little disability. Sometimes, a person has enough healthy mitochondria to compensate for the defective ones. The Human Phenotype Ontology provides the following list of signs and symptoms for Myoclonic epilepsy with ragged red fibers. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of movement 90% EMG abnormality 90% Incoordination 90% Multiple lipomas 90% Myopathy 90% Sensorineural hearing impairment 90% Cognitive impairment 50% Short stature 50% Optic atrophy 7.5% Ataxia - Generalized myoclonic seizures - Increased serum lactate - Increased serum pyruvate - Mitochondrial inheritance - Muscle weakness - Myoclonus - Ragged-red muscle fibers - Seizures - Spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Microphthalmia syndromic 9 ? Answer:

What are the signs and symptoms of Microphthalmia syndromic 9? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 9. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia affecting the eye 90% Cognitive impairment 90% Abnormal lung lobation 50% Aplasia/Hypoplasia of the lungs 50% Congenital diaphragmatic hernia 50% Abnormal localization of kidney 7.5% Abnormality of female internal genitalia 7.5% Abnormality of the larynx 7.5% Abnormality of the spleen 7.5% Annular pancreas 7.5% Aplasia/Hypoplasia of the pancreas 7.5% Cryptorchidism 7.5% Duodenal stenosis 7.5% Intrauterine growth retardation 7.5% Low-set, posteriorly rotated ears 7.5% Muscular hypotonia 7.5% Renal hypoplasia/aplasia 7.5% Vesicoureteral reflux 7.5% Low-set ears 5% Truncus arteriosus 5% Agenesis of pulmonary vessels - Anophthalmia - Atria septal defect - Autosomal recessive inheritance - Bicornuate uterus - Bilateral lung agenesis - Bilateral microphthalmos - Blepharophimosis - Coarctation of aorta - Diaphragmatic eventration - Horseshoe kidney - Hydronephrosis - Hypoplasia of the uterus - Hypoplastic left atrium - Hypoplastic spleen - Inguinal hernia - Intellectual disability, profound - Patent ductus arteriosus - Pelvic kidney - Pulmonary artery atresia - Pulmonary hypoplasia - Pulmonic stenosis - Renal hypoplasia - Renal malrotation - Respiratory insufficiency - Right aortic arch with mirror image branching - Short stature - Single ventricle - Tetralogy of Fallot - Ventricular septal defect - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the treatments for Kidney Disease ? Answer:

During your next health care visit, talk to your provider about your test results and how to manage your kidney disease. Below is a list of questions you may want to ask. Add any questions you think are missing, and mark those that are most important to you. Bring your list with you. About your tests - Did you check my kidney health with blood and urine tests? - What was my GFR? What does that mean? - Has my GFR changed since last time? - What is my urine albumin level? What does that mean? - Has my urine albumin changed since the last time it was checked? - Is my kidney disease getting worse? - Is my blood pressure where it needs to be? - Will I need dialysis? - When should I talk to my family about dialysis or a kidney transplant? Did you check my kidney health with blood and urine tests? What was my GFR? What does that mean? Has my GFR changed since last time? What is my urine albumin level? What does that mean? Has my urine albumin changed since the last time it was checked? Is my kidney disease getting worse? Is my blood pressure where it needs to be? Will I need dialysis? When should I talk to my family about dialysis or a kidney transplant? (Watch the video to learn more about dialysis decisions. To enlarge the videos on this page, click the brackets in the lower right-hand corner of the video screen. To reduce the videos, press the Escape (Esc) button on your keyboard.) About treatment and self-care - What can I do to keep my disease from getting worse? - Do any of my medicines or doses need to be changed? - Do I need to change what I eat? Am I eating the right amount of protein, salt (sodium), potassium, and phosphorus? - Will you refer me to a dietitian for diet counseling? - When will I need to see a nephrologist (kidney specialist)? - What do I need to do to protect my veins? What can I do to keep my disease from getting worse? Do any of my medicines or doses need to be changed? Do I need to change what I eat? Am I eating the right amount of protein, salt (sodium), potassium, and phosphorus? Will you refer me to a dietitian for diet counseling? When will I need to see a nephrologist (kidney specialist)? What do I need to do to protect my veins? (Watch the video to learn more about lifestyle and diet changes to make with kidney disease.) About complications - What other health problems may I face because of my kidney disease? - Should I be looking for any symptoms? If so, what are they? What other health problems may I face because of my kidney disease? Should I be looking for any symptoms? If so, what are they? If you're told that you need renal replacement therapy (dialysis or a transplant) - How do I decide which treatment is right for me? - How do I prepare for dialysis? - What is an AV fistula? - How soon do I begin preparing? - How can my family help me? How do I decide which treatment is right for me? How do I prepare for dialysis? What is an AV fistula? How soon do I begin preparing? How can my family help me?

Question: What are the symptoms of Carney complex ? Answer:

What are the signs and symptoms of Carney complex? The Human Phenotype Ontology provides the following list of signs and symptoms for Carney complex. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal pigmentation of the oral mucosa 90% Growth hormone excess 90% Gynecomastia 90% Hypercortisolism 90% Melanocytic nevus 90% Neoplasm of the adrenal gland 90% Neoplasm of the heart 90% Neoplasm of the skin 90% Neoplasm of the thyroid gland 90% Testicular neoplasm 90% Abnormality of adipose tissue 50% Abnormality of temperature regulation 50% Arthralgia 50% Behavioral abnormality 50% Broad foot 50% Cerebral ischemia 50% Coarse facial features 50% Congestive heart failure 50% Hypertension 50% Hypertrichosis 50% Joint swelling 50% Kyphosis 50% Large hands 50% Neoplasm of the breast 50% Osteoarthritis 50% Reduced bone mineral density 50% Round face 50% Skeletal muscle atrophy 50% Thin skin 50% Truncal obesity 50% Type II diabetes mellitus 50% Anemia 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Mitral stenosis 7.5% Neoplasm of the nervous system 7.5% Ovarian neoplasm 7.5% Precocious puberty 7.5% Striae distensae 7.5% Sudden cardiac death 7.5% Tall stature 7.5% Weight loss 7.5% Abnormality of the eye - Autosomal dominant inheritance - Freckling - Hirsutism - Myxoid subcutaneous tumors - Nevus - Pheochromocytoma - Pituitary adenoma - Profuse pigmented skin lesions - Red hair - Schwannoma - Thyroid carcinoma - Thyroid follicular hyperplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Muscle eye brain disease ? Answer:

What are the signs and symptoms of Muscle eye brain disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscle eye brain disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% EEG abnormality 90% EMG abnormality 90% Gait disturbance 90% Glaucoma 90% Hydrocephalus 90% Myopathy 90% Myopia 90% Neurological speech impairment 90% Optic atrophy 90% Strabismus 90% Visual impairment 90% Abnormality of the voice 50% Cataract 50% Hypertonia 50% Muscular hypotonia 50% Seizures 50% Aplasia/Hypoplasia of the cerebellum 7.5% Hemiplegia/hemiparesis 7.5% Holoprosencephaly 7.5% Meningocele 7.5% Autosomal recessive inheritance - Buphthalmos - Cerebellar cyst - Cerebellar dysplasia - Cerebellar hypoplasia - Coloboma - Congenital myopia - Congenital onset - Decreased light- and dark-adapted electroretinogram amplitude - Elevated serum creatine phosphokinase - Enlarged flash visual evoked potentials - Generalized hypotonia - Generalized muscle weakness - Heterogeneous - Hypoplasia of midface - Hypoplasia of the brainstem - Hypoplasia of the retina - Intellectual disability, profound - Intellectual disability, severe - Malar flattening - Megalocornea - Microcephaly - Microphthalmia - Muscle weakness - Muscular dystrophy - Myoclonus - Nystagmus - Opacification of the corneal stroma - Pachygyria - Pallor - Phenotypic variability - Polymicrogyria - Retinal atrophy - Retinal dysplasia - Severe global developmental delay - Severe muscular hypotonia - Short nasal bridge - Spasticity - Type II lissencephaly - Uncontrolled eye movements - Undetectable electroretinogram - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What is (are) Sleep Apnea ? Answer:

Espaol Sleep apnea (AP-ne-ah) is a common disorder in which you have one or more pauses in breathing or shallow breaths while you sleep. Breathing pauses can last from a few seconds to minutes. They may occur 30times or more an hour. Typically, normal breathing then starts again, sometimes with a loud snort or choking sound. Sleep apnea usually is a chronic (ongoing) condition that disrupts your sleep. When your breathing pauses or becomes shallow, youll often move out of deep sleep and into light sleep. As a result, the quality of your sleep is poor, which makes you tired during the day. Sleep apnea is a leading cause of excessive daytime sleepiness. Overview Sleep apnea often goes undiagnosed. Doctors usually can't detect the condition during routine office visits. Also, no blood test can help diagnose the condition. Most people who have sleep apnea don't know they have it because it only occurs during sleep. A family member or bed partner might be the first to notice signs of sleep apnea. The most common type of sleep apnea is obstructive sleep apnea. In this condition, the airway collapses or becomes blocked during sleep. This causes shallow breathing or breathing pauses. When you try to breathe, any air that squeezes past the blockage can cause loud snoring. Obstructive sleep apnea is more common in people who are overweight, but it can affect anyone. For example, small children who have enlarged tonsil tissues in their throats may have obstructive sleep apnea. The animation below shows how obstructive sleep apnea occurs. Click the "start" button to play the animation. Written and spoken explanations are provided with each frame. Use the buttons in the lower right corner to pause, restart, or replay the animation, or use the scroll bar below the buttons to move through the frames. The animation shows how the airway can collapse and block air flow to the lungs, causing sleep apnea. Central sleep apnea is a less common type of sleep apnea. This disorder occurs if the area of your brain that controls your breathing doesn't send the correct signals to your breathing muscles. As a result, you'll make no effort to breathe for brief periods. Central sleep apnea can affect anyone. However, it's more common in people who have certain medical conditions or use certain medicines. Central sleep apnea can occur with obstructive sleep apnea or alone. Snoring typically doesn't happen with central sleep apnea. This article mainly focuses on obstructive sleep apnea. Outlook Untreated sleep apnea can: Increase the risk of high blood pressure, heart attack, stroke, obesity, and diabetes Increase the risk of, or worsen, heart failure Make arrhythmias (ah-RITH-me-ahs), or irregular heartbeats, more likely Increase the chance of having work-related or driving accidents Sleep apnea is a chronic condition that requires long-term management. Lifestyle changes, mouthpieces, surgery, and breathing devices can successfully treat sleep apnea in many people.

Question: What are the symptoms of Distal chromosome 18q deletion syndrome ? Answer:

What are the signs and symptoms of Distal chromosome 18q deletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Distal chromosome 18q deletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absence of the pulmonary valve - Aortic valve stenosis - Asthma - Atopic dermatitis - Atresia of the external auditory canal - Atria septal defect - Autosomal dominant inheritance - Bifid uvula - Blepharophimosis - Broad-based gait - Cerebellar hypoplasia - Choanal stenosis - Chorea - Cleft palate - Cleft upper lip - Conductive hearing impairment - Congestive heart failure - Cryptorchidism - Delayed CNS myelination - Depressed nasal bridge - Dilatation of the ascending aorta - Downturned corners of mouth - Dysplastic aortic valve - Dysplastic pulmonary valve - Epicanthus - Failure to thrive in infancy - Flat midface - Growth hormone deficiency - Hypertelorism - Hypoplasia of midface - Hypospadias - Inguinal hernia - Intellectual disability - Joint laxity - Low anterior hairline - Macrotia - Malar flattening - Mandibular prognathia - Microcephaly - Micropenis - Motor delay - Muscular hypotonia - Nystagmus - Optic atrophy - Overlapping toe - Patent ductus arteriosus - Pes cavus - Pes planus - Phenotypic variability - Poor coordination - Prominent nose - Proximal placement of thumb - Recurrent respiratory infections - Rocker bottom foot - Scoliosis - Secretory IgA deficiency - Seizures - Sensorineural hearing impairment - Short neck - Short palpebral fissure - Short philtrum - Short stature - Sporadic - Stenosis of the external auditory canal - Strabismus - Talipes equinovarus - Tapetoretinal degeneration - Toe syndactyly - Tremor - Umbilical hernia - U-Shaped upper lip vermilion - Ventricular septal defect - Ventriculomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the symptoms of Beta-thalassemia ? Answer:

What are the signs and symptoms of Beta-thalassemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Beta-thalassemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the heme biosynthetic pathway 90% Hypersplenism 90% Pallor 90% Splenomegaly 90% Abnormality of iron homeostasis 50% Abnormality of temperature regulation 50% Abnormality of the genital system 50% Abnormality of the teeth 50% Behavioral abnormality 50% Biliary tract abnormality 50% Depressed nasal bridge 50% Feeding difficulties in infancy 50% Genu valgum 50% Hepatomegaly 50% Malabsorption 50% Malar prominence 50% Muscle weakness 50% Paresthesia 50% Reduced bone mineral density 50% Respiratory insufficiency 50% Upslanted palpebral fissure 50% Abnormality of color vision 7.5% Abnormality of the thorax 7.5% Anterior hypopituitarism 7.5% Arthralgia 7.5% Bone marrow hypocellularity 7.5% Cataract 7.5% Cirrhosis 7.5% Diabetes mellitus 7.5% Elevated hepatic transaminases 7.5% Hearing impairment 7.5% Hypertrophic cardiomyopathy 7.5% Hypoparathyroidism 7.5% Hypothyroidism 7.5% Neoplasm of the liver 7.5% Nyctalopia 7.5% Primary adrenal insufficiency 7.5% Pulmonary hypertension 7.5% Skeletal dysplasia 7.5% Skin ulcer 7.5% Sudden cardiac death 7.5% Thrombocytopenia 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Hypochromic microcytic anemia - Reduced beta/alpha synthesis ratio - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

Question: What are the treatments for type 1 diabetes ? Answer:

These resources address the diagnosis or management of type 1 diabetes: - Food and Drug Administration: Blood Glucose Measuring Devices - Food and Drug Administration: Insulin - Genetic Testing Registry: Diabetes mellitus type 1 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 10 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 11 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 12 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 13 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 15 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 17 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 18 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 19 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 2 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 20 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 21 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 22 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 23 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 24 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 3 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 4 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 5 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 6 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 7 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, 8 - Genetic Testing Registry: Diabetes mellitus, insulin-dependent, X-linked, susceptibility to - MedlinePlus Encyclopedia: Anti-Insulin Antibody Test - MedlinePlus Encyclopedia: Home Blood Sugar Testing - MedlinePlus Health Topic: Islet Cell Transplantation - MedlinePlus Health Topic: Pancreas Transplantation - Type 1 Diabetes in Adults: National Clinical Guideline for Diagnosis and Management in Primary and Secondary Care (2004) - Type 1 Diabetes: Diagnosis and Management of Type 1 Diabetes in Children and Young People (2004) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care

Question: What is (are) Chronic Lymphocytic Leukemia ? Answer:

Key Points - Chronic lymphocytic leukemia is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). - Leukemia may affect red blood cells, white blood cells, and platelets. - Older age can affect the risk of developing chronic lymphocytic leukemia. - Signs and symptoms of chronic lymphocytic leukemia include swollen lymph nodes and tiredness. - Tests that examine the blood, bone marrow, and lymph nodes are used to detect (find) and diagnose chronic lymphocytic leukemia. - Certain factors affect treatment options and prognosis (chance of recovery). Chronic lymphocytic leukemia is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). Chronic lymphocytic leukemia (also called CLL) is a blood and bone marrow disease that usually gets worse slowly. CLL is one of the most common types of leukemia in adults. It often occurs during or after middle age; it rarely occurs in children. Leukemia may affect red blood cells, white blood cells, and platelets. Normally, the body makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A myeloid stem cell becomes one of three types of mature blood cells: - Red blood cells that carry oxygen and other substances to all tissues of the body. - White blood cells that fight infection and disease. - Platelets that form blood clots to stop bleeding. A lymphoid stem cell becomes a lymphoblast cell and then one of three types of lymphocytes (white blood cells): - B lymphocytes that make antibodies to help fight infection. - T lymphocytes that help B lymphocytes make antibodies to fight infection. - Natural killer cells that attack cancer cells and viruses. In CLL, too many blood stem cells become abnormal lymphocytes and do not become healthy white blood cells. The abnormal lymphocytes may also be called leukemia cells. The lymphocytes are not able to fight infection very well. Also, as the number of lymphocytes increases in the blood and bone marrow, there is less room for healthy white blood cells, red blood cells, and platelets. This may cause infection, anemia, and easy bleeding. This summary is about chronic lymphocytic leukemia. See the following PDQ summaries for more information about leukemia: - Adult Acute Lymphoblastic Leukemia Treatment. - Childhood Acute Lymphoblastic Leukemia Treatment. - Adult Acute Myeloid Leukemia Treatment. - Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment. - Chronic Myelogenous Leukemia Treatment. - Hairy Cell Leukemia Treatment.

Question: What is (are) Alpha-1 Antitrypsin Deficiency ? Answer:

Alpha-1 antitrypsin (an-tee-TRIP-sin) deficiency, or AAT deficiency, is a condition that raises your risk for lung disease (especially if you smoke) and other diseases. Some people who have severe AAT deficiency develop emphysema (em-fi-SE-ma)often when they're only in their forties or fifties. Emphysema is a serious lung disease in which damage to the airways makes it hard to breathe. A small number of people who have AAT deficiency develop cirrhosis (sir-RO-sis) and other serious liver diseases. Cirrhosis is a disease in which the liver becomes scarred. The scarring prevents the organ from working well. In people who have AAT deficiency, cirrhosis and other liver diseases usually occur in infancy and early childhood. A very small number of people who have AAT deficiency have a rare skin disease called necrotizing panniculitis (pa-NIK-yu-LI-tis). This disease can cause painful lumps under or on the surface of the skin. This article focuses on AAT deficiency as it relates to lung disease. Overview Alpha-1 antitrypsin, also called AAT, is a protein made in the liver. Normally, the protein travels through the bloodstream. It helps protect the body's organs from the harmful effects of other proteins. The lungs are one of the main organs that the AAT protein protects. AAT deficiency occurs if the AAT proteins made in the liver aren't the right shape. They get stuck inside liver cells and can't get into the bloodstream. As a result, not enough AAT proteins travel to the lungs to protect them. This increases the risk of lung disease. Also, because too many AAT proteins are stuck in the liver, liver disease can develop. Severe AAT deficiency occurs if blood levels of the AAT protein fall below the lowest amount needed to protect the lungs. AAT deficiency is an inherited condition. "Inherited" means it's passed from parents to children through genes. Doctors don't know how many people have AAT deficiency. Many people who have the condition may not know they have it. Estimates of how many people have AAT deficiency range from about 1 in every 1,600 people to about 1 in every 5,000 people. Outlook People who have AAT deficiency may not have serious complications, and they may live close to a normal lifespan. Among people with AAT deficiency who have a related lung or liver disease, about 3percent die each year. Smoking is the leading risk factor for life-threatening lung disease if you have AAT deficiency. Smoking or exposure to tobacco smoke increases the risk of earlier lung-related symptoms and lung damage. If you have severe AAT deficiency, smoking can shorten your life by as much as 20 years. AAT deficiency has no cure, but treatments are available. Treatments often are based on the type of disease you develop.

Question: What is (are) Hennekam syndrome ? Answer:

Hennekam syndrome is an inherited disorder resulting from malformation of the lymphatic system, which is part of both the circulatory system and immune system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body. The characteristic signs and symptoms of Hennekam syndrome are lymphatic vessels that are abnormally expanded (lymphangiectasia), particularly the vessels that transport lymph fluid to and from the intestines; puffiness or swelling caused by a buildup of fluid (lymphedema); and unusual facial features. Lymphangiectasia often impedes the flow of lymph fluid and can cause the affected vessels to break open (rupture). In the intestines, ruptured vessels can lead to accumulation of lymph fluid, which interferes with the absorption of nutrients, fats, and proteins. Accumulation of lymph fluid in the abdomen can cause swelling (chylous ascites). Lymphangiectasia can also affect the kidneys, thyroid gland, the outer covering of the lungs (the pleura), the membrane covering the heart (pericardium), or the skin. The lymphedema in Hennekam syndrome is often noticeable at birth and usually affects the face and limbs. Severely affected infants may have extensive swelling caused by fluid accumulation before birth (hydrops fetalis). The lymphedema usually affects one side of the body more severely than the other (asymmetric) and slowly worsens over time. Facial features of people with Hennekam syndrome may include a flattened appearance to the middle of the face and the bridge of the nose, puffy eyelids, widely spaced eyes (hypertelorism), small ears, and a small mouth with overgrowth of the gums (gingival hypertrophy). Affected individuals may also have an unusually small head (microcephaly) and premature fusion of the skull bones (craniosynostosis). Individuals with Hennekam syndrome often have intellectual disability that ranges from mild to severe, although most are on the mild end of the range and some have normal intellect. Many individuals with Hennekam syndrome have growth delay, respiratory problems, permanently bent fingers and toes (camptodactyly), or fusion of the skin between the fingers and toes (cutaneous syndactyly). Abnormalities found in a few individuals with Hennekam syndrome include a moderate to severe shortage of red blood cells (anemia) resulting from an inadequate amount (deficiency) of iron in the bloodstream, multiple spleens (polysplenia), misplaced kidneys, genital anomalies, a soft out-pouching around the belly-button (umbilical hernia), heart abnormalities, hearing loss, excessive body hair growth (hirsutism), a narrow upper chest that may have a sunken appearance (pectus excavatum), an abnormal side-to-side curvature of the spine (scoliosis), and inward- and upward-turning feet (clubfeet). The signs and symptoms of Hennekam syndrome vary widely among affected individuals, even those within the same family. Life expectancy depends on the severity of the condition and can vary from death in childhood to survival into adulthood.

Question: What are the treatments for Urinary Incontinence ? Answer:

Today, there are more treatments for urinary incontinence than ever before. The choice of treatment depends on the type of bladder control problem you have, how serious it is, and what best fits your lifestyle. As a general rule, the simplest and safest treatments should be tried first. Types of Treatments If lifestyle changes and bladder training dont help, your health care provider may suggest medical treatments. Medical treatments may include the following. - Medicines. If you have urgency urinary incontinence, your provider may prescribe a medicine to calm bladder muscles and nerves. These calming medicines help keep bladder muscles and nerves from making you urinate when youre not ready. Medicines for urgency urinary incontinence come as pills, liquid, creams, or patches. No medicines treat stress urinary incontinence. Medicines. If you have urgency urinary incontinence, your provider may prescribe a medicine to calm bladder muscles and nerves. These calming medicines help keep bladder muscles and nerves from making you urinate when youre not ready. Medicines for urgency urinary incontinence come as pills, liquid, creams, or patches. No medicines treat stress urinary incontinence. - Medical devices. Some women may be able to use a medical device to help prevent leaking. One medical device -- called a urethral insert -- blocks the urethra for a short time to prevent leaking when it is most likely to happen, such as during physical activity. Another device -- called a pessary -- is put in the vagina to help hold up the bladder if you have a prolapsed bladder or vagina (when the vagina or bladder has shifted out of place). Medical devices. Some women may be able to use a medical device to help prevent leaking. One medical device -- called a urethral insert -- blocks the urethra for a short time to prevent leaking when it is most likely to happen, such as during physical activity. Another device -- called a pessary -- is put in the vagina to help hold up the bladder if you have a prolapsed bladder or vagina (when the vagina or bladder has shifted out of place). - Nerve stimulation. Nerve stimulation sends mild electric current to the nerves around the bladder that help control urination. Sometimes nerve stimulation can be done at home, by placing an electrode in the vagina or anus. Or, it may require minor surgery to place an electrode under the skin on the leg or lower back. Nerve stimulation. Nerve stimulation sends mild electric current to the nerves around the bladder that help control urination. Sometimes nerve stimulation can be done at home, by placing an electrode in the vagina or anus. Or, it may require minor surgery to place an electrode under the skin on the leg or lower back. - Surgery. Sometimes surgery can help fix the cause of urinary incontinence. Surgery may give the bladder and urethra more support or help keep the urethra closed during coughing or sneezing. Surgery. Sometimes surgery can help fix the cause of urinary incontinence. Surgery may give the bladder and urethra more support or help keep the urethra closed during coughing or sneezing.

Question: What are the treatments for Leukemia ? Answer:

Unlike other types of cancer, leukemia isn't a tumor that your doctor can surgically remove. Leukemia cells are produced in the bone marrow and travel throughout the body. The Goal of Treatment The goal of treatment for leukemia is to destroy the leukemia cells and allow normal cells to form in the bone marrow. Depending on the type and extent of the disease, patients may have chemotherapy, biological therapy, radiation therapy, or stem cell transplantation. Some patients receive a combination of treatments. Treatment depends on a number of factors, including the type of leukemia, the patient's age and general health, whether leukemia cells are present in the fluid around the brain or spinal cord, and whether the leukemia has been treated before. It also may depend on certain features of the leukemia cells and the patient's symptoms. Acute Leukemia or Chronic Leukemia? If a person has acute leukemia, they will need treatment right away. The purpose of treatment is to stop the rapid growth of leukemia cells and to bring about remission, meaning the cancer is under control. In many cases, a person will continue treatment after signs and symptoms disappear to prevent the disease from coming back. Some people with acute leukemia can be cured. Learn more about treatments for acute myeloid leukemia. Learn more about treatments for chronic lymphocytic leukemia. Chronic leukemia may not need to be treated until symptoms appear. Treatment can often control the disease and its symptoms. Types of Treatments Some, but not all, forms of treatment for leukemia include - chemotherapy - biological therapy - radiation therapy. chemotherapy biological therapy radiation therapy. Chemotherapy Chemotherapy uses drugs to kill cancer cells. This a common treatment for some types of leukemia. Chemotherapy may be taken by mouth in pill form, by injection directly into a vein, or through a catheter. If leukemia cells are found in the fluid around the brain or spinal cord, the doctor may inject drugs directly into the fluid to ensure that the drugs reach the leukemia cells in the brain. Biological Therapy Biological therapy uses special substances that improve the body's natural defenses against cancer. Some patients with chronic lymphocytic leukemia receive monoclonal antibodies, which are man-made proteins that can identify leukemia cells. Monoclonal antibodies bind to the cells and assist the body in killing them. Although monoclonal antibodies are being used to treat leukemia, researchers are studying more innovative ways to use them in treatment. Some antibodies are used alone to try to prompt the immune system to attack leukemia cells. Other antibodies are attached to substances that can deliver poison to cancer cells. These modified antibodies, called immunotoxins, deliver the toxins directly to the cancer cells. Lately, precision medicine trials have shown evidence that single targeted therapies taken in pill form can prolong survival. Radiation Therapy Radiation therapy uses high-energy X-rays to destroy cancer cells. A machine outside the body directs high-energy beams at the spleen, the brain, or other parts of the body where leukemia cells have collected. Radiation therapy is used primarily to control disease in bones that are at risk of fracture or at sites that are causing pain.

Question: How to diagnose Endocarditis ? Answer:

Your doctor will diagnose infective endocarditis (IE) based on your risk factors, your medical history and signs and symptoms, and test results. Diagnosis of IE often is based on many factors, rather than a single positive test result, sign, or symptom. Diagnostic Tests Blood Tests Blood cultures are the most important blood tests used to diagnose IE. Blood is drawn several times over a 24-hour period. It's put in special culture bottles that allow bacteria to grow. Doctors then identify and test the bacteria to see which antibiotics will kill them. Sometimes the blood cultures don't grow any bacteria, even if a person has IE. This is called culture-negative endocarditis, and it requires antibiotic treatment. Other blood tests also are used to diagnose IE. For example, a complete blood count may be used to check the number of red and white blood cells in your blood. Blood tests also may be used to check your immune system and to check for inflammation. Echocardiography Echocardiography (echo) is a painless test that uses sound waves to create pictures of your heart. Two types of echo are useful in diagnosing IE. Transthoracic (tranz-thor-AS-ik) echo. For this painless test, gel is applied to the skin on your chest. A device called a transducer is moved around on the outside of your chest. This device sends sound waves called ultrasound through your chest. As the ultrasound waves bounce off your heart, a computer converts them into pictures on a screen. Your doctor uses the pictures to look for vegetations, areas of infected tissue (such as an abscess), and signs of heart damage. Because the sound waves have to pass through skin, muscle, tissue, bone, and lungs, the pictures may not have enough detail. Thus, your doctor may recommend transesophageal (tranz-ih-sof-uh-JEE-ul) echo (TEE). Transesophageal echo. For TEE, a much smaller transducer is attached to the end of a long, narrow, flexible tube. The tube is passed down your throat. Before the procedure, you're given medicine to help you relax, and your throat is sprayed with numbing medicine. The doctor then passes the transducer down your esophagus (the passage from your mouth to your stomach). Because this passage is right behind the heart, the transducer can get detailed pictures of the heart's structures. EKG An EKG is a simple, painless test that detects your heart's electrical activity. The test shows how fast your heart is beating, whether your heart rhythm is steady or irregular, and the strength and timing of electrical signals as they pass through your heart. An EKG typically isn't used to diagnose IE. However, it may be done to see whether IE is affecting your heart's electrical activity. For this test, soft, sticky patches called electrodes are attached to your chest, arms, and legs. You lie still while the electrodes detect your heart's electrical signals. A machine records these signals on graph paper or shows them on a computer screen. The entire test usually takes about 10 minutes.

Question: What are the genetic changes related to palmoplantar keratoderma with deafness ? Answer:

Palmoplantar keratoderma with deafness can be caused by mutations in the GJB2 or MT-TS1 genes. The GJB2 gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells that are in contact with each other. Gap junctions made with connexin 26 transport potassium ions and certain small molecules. Connexin 26 is found in cells throughout the body, including the inner ear and the skin. In the inner ear, channels made from connexin 26 are found in a snail-shaped structure called the cochlea. These channels may help to maintain the proper level of potassium ions required for the conversion of sound waves to electrical nerve impulses. This conversion is essential for normal hearing. In addition, connexin 26 may be involved in the maturation of certain cells in the cochlea. Connexin 26 also plays a role in the growth, maturation, and stability of the outermost layer of skin (the epidermis). The GJB2 gene mutations that cause palmoplantar keratoderma with deafness change single protein building blocks (amino acids) in connexin 26. The altered protein probably disrupts the function of normal connexin 26 in cells, and may interfere with the function of other connexin proteins. This disruption could affect skin growth and also impair hearing by disturbing the conversion of sound waves to nerve impulses. Palmoplantar keratoderma with deafness can also be caused by a mutation in the MT-TS1 gene. This gene provides instructions for making a particular type of RNA, a molecule that is a chemical cousin of DNA. This type of RNA, called transfer RNA (tRNA), helps assemble amino acids into full-length, functioning proteins. The MT-TS1 gene provides instructions for a specific form of tRNA that is designated as tRNASer(UCN). This molecule attaches to a particular amino acid, serine (Ser), and inserts it into the appropriate locations in many different proteins. The tRNASer(UCN) molecule is present only in cellular structures called mitochondria. These structures convert energy from food into a form that cells can use. Through a process called oxidative phosphorylation, mitochondria use oxygen, simple sugars, and fatty acids to create adenosine triphosphate (ATP), the cell's main energy source. The tRNASer(UCN) molecule is involved in the assembly of proteins that carry out oxidative phosphorylation. The MT-TS1 gene mutation that causes palmoplantar keratoderma with deafness leads to reduced levels of tRNASer(UCN) to assemble proteins within mitochondria. Reduced production of proteins needed for oxidative phosphorylation may impair the ability of mitochondria to make ATP. Researchers have not determined why the effects of the mutation are limited to cells in the inner ear and the skin in this condition.

Question: What is (are) transthyretin amyloidosis ? Answer:

Transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues. These protein deposits most frequently occur in the peripheral nervous system, which is made up of nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound. Protein deposits in these nerves result in a loss of sensation in the extremities (peripheral neuropathy). The autonomic nervous system, which controls involuntary body functions such as blood pressure, heart rate, and digestion, may also be affected by amyloidosis. In some cases, the brain and spinal cord (central nervous system) are affected. Other areas of amyloidosis include the heart, kidneys, eyes, and gastrointestinal tract. The age at which symptoms begin to develop varies widely among individuals with this condition, and is typically between ages 20 and 70. There are three major forms of transthyretin amyloidosis, which are distinguished by their symptoms and the body systems they affect. The neuropathic form of transthyretin amyloidosis primarily affects the peripheral and autonomic nervous systems, resulting in peripheral neuropathy and difficulty controlling bodily functions. Impairments in bodily functions can include sexual impotence, diarrhea, constipation, problems with urination, and a sharp drop in blood pressure upon standing (orthostatic hypotension). Some people experience heart and kidney problems as well. Various eye problems may occur, such as cloudiness of the clear gel that fills the eyeball (vitreous opacity), dry eyes, increased pressure in the eyes (glaucoma), or pupils with an irregular or "scalloped" appearance. Some people with this form of transthyretin amyloidosis develop carpal tunnel syndrome, which is characterized by numbness, tingling, and weakness in the hands and fingers. The leptomeningeal form of transthyretin amyloidosis primarily affects the central nervous system. In people with this form, amyloidosis occurs in the leptomeninges, which are two thin layers of tissue that cover the brain and spinal cord. A buildup of protein in this tissue can cause stroke and bleeding in the brain, an accumulation of fluid in the brain (hydrocephalus), difficulty coordinating movements (ataxia), muscle stiffness and weakness (spastic paralysis), seizures, and loss of intellectual function (dementia). Eye problems similar to those in the neuropathic form may also occur. When people with leptomeningeal transthyretin amyloidosis have associated eye problems, they are said to have the oculoleptomeningeal form. The cardiac form of transthyretin amyloidosis affects the heart. People with cardiac amyloidosis may have an abnormal heartbeat (arrhythmia), an enlarged heart (cardiomegaly), or orthostatic hypertension. These abnormalities can lead to progressive heart failure and death. Occasionally, people with the cardiac form of transthyretin amyloidosis have mild peripheral neuropathy.

Question: What are the symptoms of Genitopatellar syndrome ? Answer:

What are the signs and symptoms of Genitopatellar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Genitopatellar syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal nasal morphology 90% Abnormality of female external genitalia 90% Abnormality of pelvic girdle bone morphology 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cryptorchidism 90% Microcephaly 90% Patellar aplasia 90% Polycystic kidney dysplasia 90% Prominent nasal bridge 90% Scrotal hypoplasia 90% Abnormal hair quantity 50% Aplasia/Hypoplasia of the corpus callosum 50% Delayed eruption of teeth 50% Fine hair 50% Hypertelorism 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Neurological speech impairment 50% Seizures 50% Talipes 50% Aplasia/Hypoplasia of the lungs 7.5% Apnea 7.5% Atria septal defect 7.5% Hearing impairment 7.5% Radioulnar synostosis 7.5% Short stature 7.5% Agenesis of corpus callosum - Autosomal recessive inheritance - Clitoral hypertrophy - Coarse facial features - Colpocephaly - Congenital hip dislocation - Dysphagia - Hip contracture - Hydronephrosis - Hypertrophic labia minora - Hypoplastic inferior pubic rami - Hypoplastic ischia - Intellectual disability, progressive - Knee flexion contracture - Laryngomalacia - Micropenis - Multicystic kidney dysplasia - Muscular hypotonia - Patellar dislocation - Periventricular gray matter heterotopia - Polyhydramnios - Prominent nose - Pulmonary hypoplasia - Short phalanx of finger - Sparse scalp hair - Talipes equinovarus - Ventricular septal defect - Wide nose - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.