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### Question: What is (are) Metabolic Syndrome ? ### Response:

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 are the symptoms of Ellis-Van Creveld syndrome ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 Leprechaunism ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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? ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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) Childhood Acute Lymphoblastic Leukemia ? ### Response:

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 ? ### Response:

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 ? ### Response:

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: How to diagnose Childhood Acute Lymphoblastic Leukemia ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 CODAS syndrome ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 Myoclonic epilepsy with ragged red fibers ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 treatments for type 1 diabetes ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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 ? ### Response:

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.

### Question: What are the symptoms of Nail-patella syndrome ? ### Response:

What are the signs and symptoms of Nail-patella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nail-patella 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 pelvic girdle bone morphology 90% Abnormality of the fingernails 90% Anonychia 90% Cubitus valgus 90% Exostoses 90% Hypoplastic toenails 90% Joint hypermobility 90% Limitation of joint mobility 90% Patellar aplasia 90% Skeletal dysplasia 90% Sprengel anomaly 90% Joint dislocation 50% Joint swelling 50% Nephrotic syndrome 50% Osteoarthritis 50% Proteinuria 50% Cataract 7.5% Glaucoma 7.5% Glomerulopathy 7.5% Hearing impairment 7.5% Hematuria 7.5% Hypertension 7.5% Nephropathy 7.5% Renal insufficiency 7.5% Vasculitis 7.5% Absence of pectoralis minor muscle - Absent distal interphalangeal creases - Antecubital pterygium - Autosomal dominant inheritance - Biceps aplasia - Cleft palate - Cleft upper lip - Clinodactyly of the 5th finger - Concave nail - Disproportionate prominence of the femoral medial condyle - Elongated radius - Glenoid fossa hypoplasia - Glomerulonephritis - Hypoplasia of first ribs - Hypoplastic radial head - Iliac horns - Keratoconus - Lester's sign - Limited elbow extension - Lumbar hyperlordosis - Microcornea - Microphakia - Patellar dislocation - Pectus excavatum - Pes planus - Ptosis - Quadriceps aplasia - Ridged nail - Scoliosis - Sensorineural hearing impairment - Short stature - Spina bifida - Talipes equinovarus - Thickening of the lateral border of the scapula - Triceps aplasia - 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) Lung Cancer ? ### Response:

How Tumors Form The body is made up of many types of cells. Normally, cells grow, divide, and produce more cells as needed to keep the body healthy and functioning properly. Sometimes, however, the process goes wrong and cells become abnormal, forming more cells in an uncontrolled way. These extra cells form a mass of tissue, called a growth or tumor. Tumors can be benign, which means not cancerous, or malignant, which means cancerous. Lung cancer occurs when a tumor forms in the tissue of the lung. The Leading Cause of Cancer Death Lung cancer is the leading cause of cancer death in men and women in the United States. Experts estimate that over 200,000 new cases of lung cancer will be diagnosed each year slightly more cases in men than women. Over 150,000 Americans die of the disease each year. Lung cancer occurs most often between the ages of 55 and 65. (Watch the videos on this page to learn more about lung cancer. To enlarge the videos, 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.) Two Major Types of Lung Cancer There are two major types of lung cancer -- non-small cell lung cancer and small cell lung cancer. Each type of lung cancer grows and spreads in different ways, and each is treated differently. - Non-small cell lung cancer is more common than small cell lung cancer. - Small cell lung cancer grows more quickly and is more likely to spread to other organs in the body. Non-small cell lung cancer is more common than small cell lung cancer. Small cell lung cancer grows more quickly and is more likely to spread to other organs in the body. Learn more about non-small cell lung cancer. Learn more about small cell lung cancer. Lung Cancer Can Spread Lung cancer may spread to the lymph nodes or other tissues in the chest, including the lung opposite to where it originated. It may also spread to other organs of the body, such as the bones, brain, or liver. When cancer spreads from its original location in the lung to another part of the body such as the brain, it is called metastatic lung cancer, not brain cancer. Doctors sometimes call this distant disease. Smoking and Lung Cancer Lung cancer would occur much less often if people did not smoke. The good news is that smoking is not as popular as it used to be. In 1965 about 42 percent of all adults smoked, but as of 2012, slightly less than 17 percent of people 18 and older smoked cigarettes. Also, since the 1990s there has been a steady drop in lung cancer deaths among men, mainly because fewer men are smoking, and since the turn of the century, lung cancer deaths in women have been slowly declining. Cigarette smoking rates had been dropping steadily in the 1990s and had started to level off at the start of the 21st century but the latest figures show a continued decline. The bad news is that other forms of tobacco use have shown some revival, but mainly in younger populations. The bad news is that smoking rates, which were dropping, have stopped declining in recent years. Smoking by young adults actually increased by 73 percent in the 1990s but has shown a downturn or leveling off in the past few years.

### Question: What is (are) metachromatic leukodystrophy ? ### Response:

Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells. This accumulation especially affects cells in the nervous system that produce myelin, the substance that insulates and protects nerves. Nerve cells covered by myelin make up a tissue called white matter. Sulfatide accumulation in myelin-producing cells causes progressive destruction of white matter (leukodystrophy) throughout the nervous system, including in the brain and spinal cord (the central nervous system) and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). In people with metachromatic leukodystrophy, white matter damage causes progressive deterioration of intellectual functions and motor skills, such as the ability to walk. Affected individuals also develop loss of sensation in the extremities (peripheral neuropathy), incontinence, seizures, paralysis, an inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. While neurological problems are the primary feature of metachromatic leukodystrophy, effects of sulfatide accumulation on other organs and tissues have been reported, most often involving the gallbladder. The most common form of metachromatic leukodystrophy, affecting about 50 to 60 percent of all individuals with this disorder, is called the late infantile form. This form of the disorder usually appears in the second year of life. Affected children lose any speech they have developed, become weak, and develop problems with walking (gait disturbance). As the disorder worsens, muscle tone generally first decreases, and then increases to the point of rigidity. Individuals with the late infantile form of metachromatic leukodystrophy typically do not survive past childhood. In 20 to 30 percent of individuals with metachromatic leukodystrophy, onset occurs between the age of 4 and adolescence. In this juvenile form, the first signs of the disorder may be behavioral problems and increasing difficulty with schoolwork. Progression of the disorder is slower than in the late infantile form, and affected individuals may survive for about 20 years after diagnosis. The adult form of metachromatic leukodystrophy affects approximately 15 to 20 percent of individuals with the disorder. In this form, the first symptoms appear during the teenage years or later. Often behavioral problems such as alcoholism, drug abuse, or difficulties at school or work are the first symptoms to appear. The affected individual may experience psychiatric symptoms such as delusions or hallucinations. People with the adult form of metachromatic leukodystrophy may survive for 20 to 30 years after diagnosis. During this time there may be some periods of relative stability and other periods of more rapid decline. Metachromatic leukodystrophy gets its name from the way cells with an accumulation of sulfatides appear when viewed under a microscope. The sulfatides form granules that are described as metachromatic, which means they pick up color differently than surrounding cellular material when stained for examination.

### Question: What are the symptoms of Kozlowski Celermajer Tink syndrome ? ### Response:

What are the signs and symptoms of Kozlowski Celermajer Tink syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kozlowski Celermajer Tink 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) Broad forehead 33% Highly arched eyebrow 33% Long philtrum 33% Sparse eyebrow 33% Aortic regurgitation - Aortic valve stenosis - Arthralgia - Arthropathy - Autosomal dominant inheritance - Autosomal recessive inheritance - Barrel-shaped chest - Bilateral single transverse palmar creases - Brachydactyly syndrome - Camptodactyly of finger - Coronal cleft vertebrae - Cubitus valgus - Decreased hip abduction - Delayed eruption of teeth - Delayed gross motor development - Delayed skeletal maturation - Deviation of the 5th finger - Elbow dislocation - Fixed elbow flexion - Flattened epiphysis - Generalized bone demineralization - Genu valgum - Hearing impairment - High palate - Hypertelorism - Hypoplasia of the capital femoral epiphysis - Hypoplasia of the ulna - Intervertebral space narrowing - Irregular vertebral endplates - Knee dislocation - Kyphoscoliosis - Limited hip extension - Lumbar hyperlordosis - Microdontia - Microtia - Mitral regurgitation - Mitral stenosis - Multiple carpal ossification centers - Narrow vertebral interpedicular distance - Pes planus - Pulmonary hypertension - Pulmonic stenosis - Rhizomelia - Short distal phalanx of finger - Short femoral neck - Short metacarpal - Short neck - Short phalanx of finger - Shoulder dislocation - Small epiphyses - Spondyloepiphyseal dysplasia - Talipes equinovarus - Tibial bowing - Tricuspid regurgitation - Tricuspid stenosis - Ulnar bowing - Ventricular hypertrophy - Ventricular septal defect - Waddling gait - Wide intermamillary distance - 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: What is (are) Aicardi-Goutieres Syndrome Disorder ? ### Response:

Aicardi-Goutieres syndrome (AGS) is an inherited encephalopathy that affects newborn infants and usually results in severe mental and physical handicap. There are two forms of the syndrome: an early-onset form that is severe, and a late-onset form that has less impact upon neurological function. The early-onset form affects about 20 percent of all babies who have AGS. These infants are born with neurological and liver abnormalities, such as enlargement of the liver and spleen and elevated liver enzymes. Their jittery behavior and poor feeding ability mimic congenital viral infection. Babies with later-onset AGS begin having symptoms after the first weeks or months of normal development, which appear as a progressive decline in head growth, weak or stiffened muscles (spasticity), and cognitive and developmental delays that range from moderate to severe. Symptoms last for several months, and include irritability, inconsolable crying, intermittent fever, seizures, and loss of developmental skills. Children may also have puffy swelling on the fingers, toes, and ears that resemble chilblains. A number of children have a noticeable startle reaction to sudden noise. For babies with the later-onset form, as symptoms lessen, there is no further worsening of the disease. AGS is difficult to diagnose since many of the symptoms are similar to those of other disorders. Diagnosis is made based on the clinical symptoms of the disease, as well as characteristic brain abnormalities that can be seen in an MRI brain scan. Cerebrospinal fluid (CSF), taken using a "spinal tap," can also be tested for increased levels of a specific immune system cell (a lymphocyte), which indicates a condition known as chronic lymphocytosis. These cells are normally only elevated during infection, so that lymphocytosis without evidence of infection can be used as an indicator of AGS. CSF may also be tested for elevated levels of a substance known as interferon-gamma, which can also support a diagnosis of AGS. The mutations of four different genes are associated with AGS: - Aicardi-Goutieres syndrome-1 (AGS1) and AGS5 (an autosomal dominant form) are caused by a mutation in the TREX1 gene, - AGS2 is caused by a mutation in the RNASEH2B gene, - AGS3 is caused by a mutation in the RNASEH2C gene, - AGS4 is caused by a mutation in the RNASEH2A gene. Most cases of AGS are inherited in an autosomal recessive manner, which means that both parents of a child with AGS must carry a single copy of the defective gene responsible for the disease. Parents do not have any symptoms of disease, but with every child they have together, there is a one in four chance that the baby will receive two copies of the defective gene and inherit AGS. NOTE: AGS is distinct from the similarly named Aicardi syndrome (characterized by absence of a brain structure (corpus callosum), and spinal, skeletal, and eye abnormalities).

### Question: What is (are) Gout ? ### Response:

Sudden, Intense Joint Pain Gout is a form of arthritis that causes the sudden onset of intense pain and swelling in the joints, which also may be warm and red. Attacks frequently occur at night and can be triggered by stressful events, alcohol or drugs, or the presence of another illness. Early attacks usually subside within 3 to 10 days, even without treatment, and the next attack may not occur for months or even years. Where Gout Usually Occurs Sometime during the course of the disease, many patients will develop gout in the big toe. Gout frequently affects joints in the lower part of the body such as the ankles, heels, knees, or toes. Who is at Risk? Adult men, particularly those between the ages of 40 and 50, are more likely to develop gout than women, who rarely develop the disease before menstruation ends. A Buildup of Uric Acid Before an attack, needle-like crystals of uric acid build up in connective tissue, in the joint space between two bones, or in both. Uric acid is a substance that results from the breakdown of purines, which are part of all human tissue and are found in many foods. Normally, uric acid is dissolved in the blood and passed through the kidneys into the urine, where it is eliminated. If there is an increase in the production of uric acid or if the kidneys do not eliminate enough uric acid from the body, levels of it build up in the blood (a condition called hyperuricemia). Hyperuricemia also may result when a person eats too many high-purine foods, such as liver, dried beans and peas, anchovies, and gravies. Hyperuricemia is not a disease, and by itself it is not dangerous. However, if too many uric acid crystals form as a result of hyperuricemia, gout can develop. The crystals form and build up in the joint, causing inflammation. Stages of Gout Gout can progress through four stages. Asymptomatic (without symptoms) hyperuricemia. In this stage, a person has elevated levels of uric acid in the blood (hyperuricemia), but no other symptoms. Treatment is usually not required. Acute gout, or acute gouty arthritis. In this stage, hyperuricemia has caused uric acid crystals to build up in joint spaces. This leads to a sudden onset of intense pain and swelling in the joints, which also may be warm and very tender. An acute (sudden) attack commonly occurs at night and can be triggered by stressful events, alcohol or drugs, or the presence of another illness. Attacks usually subside within 3 to 10 days, even without treatment, and the next attack may not occur for months or even years. Over time, however, attacks can last longer and occur more frequently. Interval or intercritical gout. This is the period between acute attacks. In this stage, a person does not have any symptoms. Chronic tophaceous (toe FAY shus) gout. This is the most disabling stage of gout. It usually develops over a long period, such as 10 years. In this stage, the disease may have caused permanent damage to the affected joints and sometimes to the kidneys. With proper treatment, most people with gout do not progress to this advanced stage.

### Question: What is (are) Diabetes ? ### Response:

Heart disease and stroke are the leading causes of death for people with diabetes. Controlling the ABCs of diabetes -- your blood glucose, your blood pressure, and your cholesterol, as well as stopping smoking -- can help prevent these and other complications from diabetes. - A is for the A1C test - B is for Blood pressure - C is for Cholesterol. A is for the A1C test B is for Blood pressure C is for Cholesterol. - The A1C test (A-one-C) shows you what your blood glucose has been over the last three months. Your health care provider does this test to see what your blood glucose level is most of the time. This test should be done at least twice a year for all people with diabetes and for some people more often as needed. For many people with diabetes, an A1C test result of under 7 percent usually means that their diabetes treatment is working well and their blood glucose is under control. The A1C test (A-one-C) shows you what your blood glucose has been over the last three months. Your health care provider does this test to see what your blood glucose level is most of the time. This test should be done at least twice a year for all people with diabetes and for some people more often as needed. For many people with diabetes, an A1C test result of under 7 percent usually means that their diabetes treatment is working well and their blood glucose is under control. - B is for Blood pressure. The goal for most people is 140/90 but may be different for you. High blood pressure makes your heart work too hard. It can cause heart attack, stroke, and kidney disease. Your blood pressure should be checked at every doctor visit. Talk with your health care provider about your blood pressure goal. B is for Blood pressure. The goal for most people is 140/90 but may be different for you. High blood pressure makes your heart work too hard. It can cause heart attack, stroke, and kidney disease. Your blood pressure should be checked at every doctor visit. Talk with your health care provider about your blood pressure goal. - C is for Cholesterol (ko-LES-ter-ol). The LDL goal for most people is less than 100. Low density lipoprotein, or LDL-cholesterol, is the bad cholesterol that builds up in your blood vessels. It causes the vessels to narrow and harden, which can lead to a heart attack. Your doctor should check your LDL at least once a year. Talk with your health care provider about your cholesterol goal. C is for Cholesterol (ko-LES-ter-ol). The LDL goal for most people is less than 100. Low density lipoprotein, or LDL-cholesterol, is the bad cholesterol that builds up in your blood vessels. It causes the vessels to narrow and harden, which can lead to a heart attack. Your doctor should check your LDL at least once a year. Talk with your health care provider about your cholesterol goal. Ask your health care team - what your A1C, blood pressure, and cholesterol numbers are. - what your ABCs should be. - what you can do to reach your target. what your A1C, blood pressure, and cholesterol numbers are. what your ABCs should be. what you can do to reach your target.

### Question: what research (or clinical trials) is being done for Colorectal Cancer ? ### Response:

Researchers continue to look at new ways to treat, diagnose, and prevent colorectal cancer. Many are testing other types of treatments in clinical trials. Advances in Treatments Studies have found that patients who took the drug Avastin, a targeted chemotherapy drug, with their standard chemotherapy treatment had a longer progression-free survival than those who did not take Avastin, but some studies have indicated that Avastin does not extend life. (The generic name for Avastin is bevacizumab.) Scientists are also working on vaccines therapies and monoclonal antibodies that may improve how patients' immune systems respond to colorectal cancers. Monoclonal antibodies are a single type of antibody that researchers make in large amounts in a laboratory. Surgical techniques have reduced the number of patients needing a permanent colostomy. A colostomy is an opening made in the abdomen for waste to pass out of the body before it reaches the rectum. In many cases, the surgeon can reconnect the healthy parts of the colon back together after removing the cancer. This way, the colon can function just as it did before. The PLCO Trial The National Cancer Institute's Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial, or PLCO Trial, recently provided results about the role of sigmoidoscopy in reducing deaths from colon and rectal cancers. The PLCO trial, involving 148,000 volunteers aged 55 to 74, compared two groups of people over a 10-year period and found that the group that received sigmoidoscopies had fewer deaths from colorectal cancer than those who did not get a sigmoidoscopy. NSAIDs and Polyp Formation Preventing colorectal cancer is a concern of many researchers. Studies have shown that non-steroidal anti-inflammatory drugs (NSAIDs) can keep large-bowel polyps from forming. Bowel polyps can start out benign, or non-cancerous, but can become cancerous. However, the effects that these drugs have on the heart and other parts of the body is of concern, therefore these drugs should only be used for prevention under a doctor's supervision. Genetic Research Genes involved in colorectal cancer continue to be identified and understood. Hereditary nonpolyposis colorectal cancer, or HNPCC, is one condition that causes people in a certain family to develop colorectal cancer at a young age. The discovery of four genes involved with this disease has provided crucial clues about the role of DNA repair in colorectal and other cancers. Scientists are continuing to identify genes associated with colon cancers that run in families. Using traditional screening methods on people from families that carry these genes may be another way to identify cancers at an early stage and cut deaths from colorectal cancer. Genetic screening of people at high risk may become more common in the near future Besides looking at genes in families, researchers in the The Cancer Genome Atlas study looked at the genes of actual colon tumors to better understand the contribution that genes make to cancer. By looking at the genetic composition of the tumor, researchers were able to identify new mutations (changes) in the genes that can lead to cancer, including the genes BRAF and EGRF.

### Question: What are the symptoms of Sialidosis type I ? ### Response:

What are the signs and symptoms of Sialidosis type I? The Human Phenotype Ontology provides the following list of signs and symptoms for Sialidosis type I. 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 macula 90% Aminoaciduria 90% Coarse facial features 90% Delayed skeletal maturation 90% Gait disturbance 90% Hyperkeratosis 90% Incoordination 90% Neurological speech impairment 90% Nystagmus 90% Opacification of the corneal stroma 90% Pectus carinatum 90% Retinopathy 90% Scoliosis 90% Seizures 90% Sensorineural hearing impairment 90% Short stature 90% Short thorax 90% Skeletal dysplasia 90% Splenomegaly 90% Thick lower lip vermilion 90% Visual impairment 90% Wide nasal bridge 90% Abnormal form of the vertebral bodies 50% Cognitive impairment 50% Decreased nerve conduction velocity 50% EEG abnormality 50% Frontal bossing 50% Hernia 50% Morphological abnormality of the central nervous system 50% Muscular hypotonia 50% Skeletal muscle atrophy 50% Tremor 50% Cataract 7.5% Kyphosis 7.5% Ascites - Autosomal recessive inheritance - Bone-marrow foam cells - Cardiomegaly - Cardiomyopathy - Cherry red spot of the macula - Dysmetria - Dysostosis multiplex - Epiphyseal stippling - Facial edema - Hepatomegaly - Hydrops fetalis - Hyperreflexia - Increased urinary O-linked sialopeptides - Inguinal hernia - Intellectual disability - Muscle weakness - Myoclonus - Progressive visual loss - Proteinuria - Slurred speech - Urinary excretion of sialylated oligosaccharides - Vacuolated lymphocytes - 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 Pseudoxanthoma elasticum ? ### Response:

What are the signs and symptoms of Pseudoxanthoma elasticum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoxanthoma elasticum. 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% Chorioretinal abnormality 90% Retinopathy 90% Skin rash 90% Thickened nuchal skin fold 90% Visual impairment 90% Bruising susceptibility 50% Myopia 50% Striae distensae 50% Abnormality of the endocardium 7.5% Abnormality of the mitral valve 7.5% Abnormality of the palate 7.5% Abnormality of the thorax 7.5% Abnormality of thrombocytes 7.5% Acne 7.5% Aneurysm 7.5% Blue sclerae 7.5% Cerebral calcification 7.5% Chondrocalcinosis 7.5% Coronary artery disease 7.5% Gastrointestinal hemorrhage 7.5% Hemiplegia/hemiparesis 7.5% Hyperextensible skin 7.5% Hypertension 7.5% Hypertrophic cardiomyopathy 7.5% Hypothyroidism 7.5% Intracranial hemorrhage 7.5% Joint hypermobility 7.5% Multiple lipomas 7.5% Nephrocalcinosis 7.5% Pruritus 7.5% Scoliosis 7.5% Sudden cardiac death 7.5% Telangiectasia of the skin 7.5% Renovascular hypertension 5% Abnormality of the mouth - Accelerated atherosclerosis - Angina pectoris - Angioid streaks of the retina - Autosomal recessive inheritance - Congestive heart failure - Hypermelanotic macule - Intermittent claudication - Macular degeneration - Mitral stenosis - Mitral valve prolapse - Reduced visual acuity - Renal insufficiency - Restrictive cardiomyopathy - Retinal hemorrhage - Stroke - 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 Single upper central incisor ? ### Response:

What are the signs and symptoms of Single upper central incisor? The Human Phenotype Ontology provides the following list of signs and symptoms for Single upper central incisor. 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) Choanal atresia 90% Midnasal stenosis 90% Short stature 90% Cognitive impairment 50% Hypotelorism 50% Intrauterine growth retardation 50% Microcephaly 50% Narrow nasal bridge 50% Premature birth 50% Short philtrum 50% Tented upper lip vermilion 50% Holoprosencephaly 33% Abnormality of the skin 7.5% Anosmia 7.5% Anterior hypopituitarism 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Asthma 7.5% Cleft palate 7.5% Coloboma 7.5% Cyclopia 7.5% Duodenal stenosis 7.5% Hypoplasia of penis 7.5% Hypothyroidism 7.5% Iris coloboma 7.5% Maternal diabetes 7.5% Renal hypoplasia/aplasia 7.5% Scoliosis 7.5% Seizures 7.5% Short nose 7.5% Strabismus 7.5% Tetralogy of Fallot 7.5% Vertebral segmentation defect 7.5% Anophthalmia 5% Microphthalmia 5% Prominent median palatal raphe 14/14 Growth hormone deficiency 5/7 Midnasal stenosis 9/14 Choanal atresia 8/14 Hypotelorism 8/14 Short stature 7/14 Microcephaly 6/14 Specific learning disability 5/14 Intellectual disability, mild 3/14 Abnormality of chromosome segregation 2/14 Abnormality of the nasopharynx 1/14 Cleft upper lip 1/14 Autosomal dominant inheritance - Torus palatinus - 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) Endometrial Cancer ? ### Response:

Key Points - Endometrial cancer is a disease in which malignant (cancer) cells form in the tissues of the endometrium. - Obesity and having metabolic syndrome may increase the risk of endometrial cancer. - Taking tamoxifen for breast cancer or taking estrogen alone (without progesterone) can increase the risk of endometrial cancer. - Signs and symptoms of endometrial cancer include unusual vaginal bleeding or pain in the pelvis. - Tests that examine the endometrium are used to detect (find) and diagnose endometrial cancer. - Certain factors affect prognosis (chance of recovery) and treatment options. Endometrial cancer is a disease in which malignant (cancer) cells form in the tissues of the endometrium. The endometrium is the lining of the uterus, a hollow, muscular organ in a womans pelvis. The uterus is where a fetus grows. In most nonpregnant women, the uterus is about 3 inches long. The lower, narrow end of the uterus is the cervix, which leads to the vagina. Cancer of the endometrium is different from cancer of the muscle of the uterus, which is called sarcoma of the uterus. See the PDQ summary on Uterine Sarcoma Treatment for more information about uterine sarcoma. Obesity and having metabolic syndrome may increase the risk of endometrial cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for endometrial cancer include the following: - Having endometrial hyperplasia. - Being obese. - Having metabolic syndrome, a set of conditions that occur together, including extra fat around the abdomen, high blood sugar, high blood pressure, high levels of triglycerides and low levels of high-density lipoproteins in the blood. - Never giving birth. - Beginning menstruation at an early age. - Reaching menopause at an older age. - Having polycystic ovarian syndrome (PCOS). - Having a mother, sister, or daughter with uterine cancer. - Having a certain gene change that is linked to Lynch syndrome (hereditary non-polyposis colon cancer). - Having hyperinsulinemia (high levels of insulin in the blood). Taking tamoxifen for breast cancer or taking estrogen alone (without progesterone) can increase the risk of endometrial cancer. Endometrial cancer may develop in breast cancer patients who have been treated with tamoxifen. A patient who takes this drug and has abnormal vaginal bleeding should have a follow-up exam and a biopsy of the endometrial lining if needed. Women taking estrogen (a hormone that can affect the growth of some cancers) alone also have an increased risk of endometrial cancer. Taking estrogen combined with progesterone (another hormone) does not increase a womans risk of endometrial cancer.

### Question: What are the symptoms of Ehlers-Danlos syndrome ? ### Response:

What are the signs and symptoms of Ehlers-Danlos syndrome? There are six major types of Ehlers-Danlos syndrome (EDS). Although there is significant overlap in associated features, the subtypes are classified based on their unique signs and symptoms: Hypermobility type - characterized primarily by joint hypermobility affecting both large (elbows, knees) and small (fingers, toes) joints which may lead to recurrent joint dislocations and subluxations (partial dislocation). Affected people generally experience skin involvement (soft, smooth and velvety skin with easy bruising) and chronic pain of the muscles and/or bones, as well. Classic type - associated with extremely elastic (stretchy), smooth skin that is fragile and bruises easily; wide, atrophic scars (flat or depressed scars); and joint hypermobility. Molluscoid pseudotumors (calcified hematomas over pressure points such as the elbow) and spheroids (fat-containing cysts on forearms and shins) are frequently diagnosed in affected people. Hypotonia and delayed motor development may occur, as well. Vascular type - characterized by thin, translucent skin that is extremely fragile and bruises easily. Arteries and certain organs such as the intestines and uterus are also fragile and prone to rupture. Affected people typically have short stature; thin scalp hair; and characteristic facial features including large eyes, a thin nose and lobeless ears. Joint hypermobility is present, but generally confined to the small joints (fingers, toes). Other common features include club foot; tendon and/or muscle rupture; acrogeria (premature aging of the skin of the hands and feet); early onset varicose veins; pneumothorax (collapse of a lung); gingival (gums) recession; and a decreased amount of subcutaneous (under the skin) fat. Kyphoscoliosis type - associated with severe hypotonia at birth, delayed motor development, progressive scoliosis (present from birth), and scleral fragility. Affected people may also have easy bruising; fragile arteries that are prone to rupture; unusually small cornia; and osteopenia (low bone density). Other common features include a "marfanoid habitus" which is characterized by long, slender fingers (arachnodactyly); unusually long limbs; and a sunken chest (pectus excavatum) or protruding chest (pectus carinatum). Arthrochalasia type - characterized by severe joint hypermobility and congenital hip dislocation. Other common features include fragile, elastic skin with easy bruising; hypotonia; kyphoscoliosis (kyphosis and scoliosis); and mild osteopenia. Dermatosparaxis type - associated with extremely fragile skin leading to severe bruising and scarring; saggy, redundant skin, especially on the face; and hernias. For more information on each subtype, please click on the links above. You can also find more detailed information on Medscape Reference's Web site or the Ehlers-Danlos National Foundation's Web site. Although other forms of the condition exist, they are extremely rare and are not well-characterized.

### Question: What causes National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ? ### Response:

We have not found any particular preparation of pituitary hGH that is especially likely to carry CJD. We believe that CJD did not come from a single infected pituitary gland or preparation. Prior to 1977, in an effort to extract as much hormone as possible from the pituitary glands, the glands were often processed repeatedly. Hormone extracted from the same pituitaries was often included in many hormone preparations. Also, patients who got CJD were treated on average for 8.4 years and received many different hormone preparations. This makes it very difficult to identify any preparation associated with transmitting CJD. Doctors wanted to see if a specific preparation of pituitary hGH could transmit CJD. To try to find the pituitary hGH that could have caused CJD, HHS researchers did two things: 1. They set up a test in animals, injecting samples of all available preparations of pituitary hGH directly into the brains of monkeys. CJD develops more rapidly if injected into the brain than under the skin, as hGH was used in people. The animals were watched for 10 years. The brains of all animals were examined for signs of CJD. If an animal got sick with CJD, it would help researchers to understand which vials of pituitary hGH were contaminated with the agent that causes CJD. 2. They studied people treated with pituitary hGH to see who got CJD and which hormone preparation they might have received based on which preparations were sent to their doctor. Results: - The animal tests did not help find the pituitary hGH that might have caused CJD. One animal developed the disease 5 years after injection of pituitary hGH. Two other animals that received injections from different vials of the same pituitary hGH preparation did not develop CJD. - None of the people who developed CJD are known to have received the hormone preparation that made the animal sick. At most, two patients (whose records are incomplete) may have received this pituitary hGH preparation. Because of this, we do not believe that the patients who received the hormone preparation that transmitted CJD to the animal have a greater risk of developing CJD than others treated with pituitary hGH. Because each preparation of pituitary hGH was used to fill multiple vials, it is not known if CJD contamination was spread evenly among all vials of pituitary hGH that came from a particular preparation. It's possible that one vial got more contamination and another got little or none from the same preparation of pituitary hGH. It is believed that multiple preparations of pituitary hGH probably had very low levels of the CJD infectious agent. With such low levels of contamination, some vials of a preparation might carry CJD while other vials would not. Further, most of the people who got CJD received pituitary hGH for long periods of time and received many different preparations.

### Question: What are the treatments for Sudden Cardiac Arrest ? ### Response:

Emergency Treatment Sudden cardiac arrest (SCA) is an emergency. A person having SCA needs to be treated with a defibrillator right away. This device sends an electric shock to the heart. The electric shock can restore a normal rhythm to a heart that's stopped beating. To work well, defibrillation must be done within minutes of SCA. With every minute that passes, the chances of surviving SCA drop rapidly. Police, emergency medical technicians, and other first responders usually are trained and equipped to use a defibrillator. Call 911 right away if someone has signs or symptoms of SCA. The sooner you call for help, the sooner lifesaving treatment can begin. Automated External Defibrillators Automated external defibrillators (AEDs) are special defibrillators that untrained bystanders can use. These portable devices often are found in public places, such as shopping malls, golf courses, businesses, airports, airplanes, casinos, convention centers, hotels, sports venues, and schools. AEDs are programmed to give an electric shock if they detect a dangerous arrhythmia, such as ventricular fibrillation. This prevents giving a shock to someone who may have fainted but isn't having SCA. You should give cardiopulmonary resuscitation (CPR) to a person having SCA until defibrillation can be done. People who are at risk for SCA may want to consider having an AED at home. A 2008 study by the National Heart, Lung, and Blood Institute and the National Institutes of Health found that AEDs in the home are safe and effective. Some people feel that placing these devices in homes will save many lives because many SCAs occur at home.Others note that no evidence supports the idea that home-use AEDs save more lives. These people fear that people who have AEDs in their homes will delay calling for help during an emergency. They're also concerned that people who have home-use AEDs will not properly maintain the devices or forget where they are. When considering a home-use AED, talk with your doctor. He or she can help you decide whether having an AED in your home will benefit you. Treatment in a Hospital If you survive SCA, you'll likely be admitted to a hospital for ongoing care and treatment. In the hospital, your medical team will closely watch your heart. They may give you medicines to try to reduce the risk of another SCA. While in the hospital, your medical team will try to find out what caused your SCA. If you're diagnosed with coronary heart disease, you may havepercutaneous coronary intervention, also known as coronary angioplasty,or coronary artery bypass grafting. These procedures help restore blood flow through narrowed or blocked coronary arteries. Often, people who have SCA get a device called an implantable cardioverter defibrillator (ICD). This small device is surgically placed under the skin in your chest or abdomen. An ICD uses electric pulses or shocks to help control dangerous arrhythmias. (For more information, go to "How Can Death Due to Sudden Cardiac Arrest Be Prevented?")

### Question: What are the symptoms of Lateral meningocele syndrome ? ### Response:

What are the signs and symptoms of Lateral meningocele syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lateral meningocele 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) Atresia of the external auditory canal 90% Conductive hearing impairment 90% Dolichocephaly 90% Dural ectasia 90% Hypoplasia of the zygomatic bone 90% Low-set, posteriorly rotated ears 90% Meningocele 90% Narrow face 90% Ptosis 90% Wormian bones 90% Abnormal form of the vertebral bodies 50% Abnormality of the teeth 50% Craniofacial hyperostosis 50% Joint hypermobility 50% Low posterior hairline 50% Pectus excavatum 50% Prominent metopic ridge 50% Scoliosis 50% Short neck 50% Short stature 50% Umbilical hernia 50% Arnold-Chiari malformation 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Hyperlordosis 7.5% Hypertelorism 7.5% Iris coloboma 7.5% Kyphosis 7.5% Muscular hypotonia 7.5% Proptosis 7.5% Sensorineural hearing impairment 7.5% Syringomyelia 7.5% Ventricular septal defect 7.5% Abnormality of the middle ear ossicles - Abnormality of the rib cage - Abnormality of the skin - Arachnoid cyst - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Biconcave vertebral bodies - Dental crowding - High palate - Inguinal hernia - Long philtrum - Low-set ears - Malar flattening - Patent ductus arteriosus - Platybasia - Posteriorly rotated ears - Sclerosis of skull base - Short nasal bridge - Smooth philtrum - Vertebral fusion - 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) Ehlers-Danlos syndrome ? ### Response:

Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications. Previously, there were more than 10 recognized types of Ehlers-Danlos syndrome, differentiated by Roman numerals. In 1997, researchers proposed a simpler classification that reduced the number of major types to six and gave them descriptive names: the classical type (formerly types I and II), the hypermobility type (formerly type III), the vascular type (formerly type IV), the kyphoscoliosis type (formerly type VIA), the arthrochalasia type (formerly types VIIA and VIIB), and the dermatosparaxis type (formerly type VIIC). This six-type classification, known as the Villefranche nomenclature, is still commonly used. The types are distinguished by their signs and symptoms, their underlying genetic causes, and their patterns of inheritance. Since 1997, several additional forms of the condition have been described. These additional forms appear to be rare, affecting a small number of families, and most have not been well characterized. Although all types of Ehlers-Danlos syndrome affect the joints and skin, additional features vary by type. An unusually large range of joint movement (hypermobility) occurs with most forms of Ehlers-Danlos syndrome, particularly the hypermobility type. Infants with hypermobile joints often have weak muscle tone, which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. Hypermobility and dislocations of both hips at birth are characteristic features in infants with the arthrochalasia type of Ehlers-Danlos syndrome. Many people with Ehlers-Danlos syndrome have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by skin that sags and wrinkles. Extra (redundant) folds of skin may be present as affected children get older. Some forms of Ehlers-Danlos syndrome, notably the vascular type and to a lesser extent the kyphoscoliosis and classical types, can involve serious and potentially life-threatening complications due to unpredictable tearing (rupture) of blood vessels. This rupture can cause internal bleeding, stroke, and shock. The vascular type of Ehlers-Danlos syndrome is also associated with an increased risk of organ rupture, including tearing of the intestine and rupture of the uterus (womb) during pregnancy. People with the kyphoscoliosis form of Ehlers-Danlos syndrome experience severe, progressive curvature of the spine that can interfere with breathing.

### Question: What is (are) celiac disease ? ### Response:

Celiac disease is a condition in which the immune system is abnormally sensitive to gluten, a protein found in wheat, rye, and barley. Celiac disease is an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Without a strict, lifelong gluten-free diet, inflammation resulting from immune system overactivity may cause a wide variety of signs and symptoms involving many parts of the body. Celiac disease can develop at any age after an individual starts eating foods containing gluten. The classic symptoms of the condition result from inflammation affecting the gastrointestinal tract. This inflammation damages the villi, which are small, finger-like projections that line the small intestine and provide a greatly increased surface area to absorb nutrients. In celiac disease, the villi become shortened and eventually flatten out. Intestinal damage causes diarrhea and poor absorption of nutrients, which may lead to weight loss. Abdominal pain, swelling (distention), and food intolerances are common in celiac disease. Inflammation associated with celiac disease may lead to an increased risk of developing certain gastrointestinal cancers such as cancers of the small intestine or esophagus. Inflammation and poor nutrient absorption may lead to problems affecting many other organs and systems of the body in affected individuals. These health problems may include iron deficiency that results in a low number of red blood cells (anemia), vitamin deficiencies, low bone mineral density (osteoporosis), itchy skin rashes (dermatitis herpetiformis), defects in the enamel of the teeth, chronic fatigue, joint pain, poor growth, delayed puberty, infertility, or repeated miscarriages. Neurological problems have also been associated with celiac disease; these include migraine headaches, depression, attention deficit hyperactivity disorder (ADHD), and recurrent seizures (epilepsy). Many people with celiac disease have one or more of these varied health problems but do not have gastrointestinal symptoms. This form of the condition is called nonclassic celiac disease. Researchers now believe that nonclassic celiac disease is actually more common than the classic form. Celiac disease often goes undiagnosed because many of its signs and symptoms are nonspecific, which means they may occur in many disorders. Most people who have one or more of these nonspecific health problems do not have celiac disease. On average, a diagnosis of celiac disease is not made until 6 to 10 years after symptoms begin. Some people have silent celiac disease, in which they have no symptoms of the disorder. However, people with silent celiac disease do have immune proteins in their blood (antibodies) that are common in celiac disease. They also have inflammatory damage to their small intestine that can be detected with a biopsy. In a small number of cases, celiac disease does not improve with a gluten-free diet and progresses to a condition called refractory sprue. Refractory sprue is characterized by chronic inflammation of the gastrointestinal tract, poor absorption of nutrients, and an increased risk of developing a type of cancer of the immune cells called T-cell lymphoma.

### Question: What are the symptoms of X-linked agammaglobulinemia ? ### Response:

What are the signs and symptoms of X-linked agammaglobulinemia? Affected infants are usually healthy for the first few months of life until they begin to develop recurrent bacterial infections. The most common bacterial infections are ear infections, pneumonia, pink eye, sinus infections, and infections that cause chronic diarrhea. These bacterial infections can be severe and life-threatening. Most affected individuals are not vulnerable to infections caused by viruses. Infections can usually be prevented with proper treatment. The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked agammaglobulinemia. 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 temperature regulation 90% Abnormality of the tonsils 90% Decreased antibody level in blood 90% Diarrhea 90% Inflammatory abnormality of the eye 90% Otitis media 90% Recurrent cutaneous abscess formation 90% Recurrent respiratory infections 90% Short stature 90% Sinusitis 90% Skin rash 90% Skin ulcer 90% Abnormality of neutrophils 50% Arthritis 50% Cellulitis 50% Meningitis 50% Sepsis 50% Abnormality of the liver 7.5% Alopecia 7.5% Anemia 7.5% Autoimmunity 7.5% Hypopigmented skin patches 7.5% Malabsorption 7.5% Osteomyelitis 7.5% Thrombocytopenia 7.5% Weight loss 7.5% Agammaglobulinemia - Conjunctivitis - Cor pulmonale - Delayed speech and language development - Encephalitis - Enteroviral dermatomyositis syndrome - Enteroviral hepatitis - Epididymitis - Hearing impairment - Lymph node hypoplasia - Neoplasm - Pneumonia - Prostatitis - Pyoderma - Recurrent urinary tract infections - Septic arthritis - X-linked recessive inheritance - 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) familial thoracic aortic aneurysm and dissection ? ### Response:

Familial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because it is located in the chest (thorax). Other vessels that carry blood from the heart to the rest of the body (arteries) can also be affected. In familial TAAD, the aorta can become weakened and stretched (aortic dilatation), which can lead to a bulge in the blood vessel wall (an aneurysm). Aortic dilatation may also lead to a sudden tearing of the layers in the aorta wall (aortic dissection), allowing blood to flow abnormally between the layers. These aortic abnormalities are potentially life-threatening because they can decrease blood flow to other parts of the body such as the brain or other vital organs, or cause the aorta to break open (rupture). The occurrence and timing of these aortic abnormalities vary, even within the same affected family. They can begin in childhood or not occur until late in life. Aortic dilatation is generally the first feature of familial TAAD to develop, although in some affected individuals dissection occurs with little or no aortic dilatation. Aortic aneurysms usually have no symptoms. However, depending on the size, growth rate, and location of these abnormalities, they can cause pain in the jaw, neck, chest, or back; swelling in the arms, neck, or head; difficult or painful swallowing; hoarseness; shortness of breath; wheezing; a chronic cough; or coughing up blood. Aortic dissections usually cause severe, sudden chest or back pain, and may also result in unusually pale skin (pallor), a very faint pulse, numbness or tingling (paresthesias) in one or more limbs, or paralysis. Familial TAAD may not be associated with other signs and symptoms. However, some individuals in affected families show mild features of related conditions called Marfan syndrome or Loeys-Dietz syndrome. These features include tall stature, stretch marks on the skin, an unusually large range of joint movement (joint hypermobility), and either a sunken or protruding chest. Occasionally, people with familial TAAD develop aneurysms in the brain or in the section of the aorta located in the abdomen (abdominal aorta). Some people with familial TAAD have heart abnormalities that are present from birth (congenital). Affected individuals may also have a soft out-pouching in the lower abdomen (inguinal hernia), an abnormal curvature of the spine (scoliosis), or a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin (dermal capillaries). However, these conditions are also common in the general population. Depending on the genetic cause of familial TAAD in particular families, they may have an increased risk of developing blockages in smaller arteries, which can lead to heart attack and stroke.

### Question: What are the symptoms of Oto-palato-digital syndrome type 1 ? ### Response:

What are the signs and symptoms of Oto-palato-digital syndrome type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Oto-palato-digital syndrome 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) Abnormality of the nose 90% Cleft palate 90% Hearing impairment 90% Hypertelorism 90% Limitation of joint mobility 90% Prominent supraorbital ridges 90% Reduced number of teeth 90% Sandal gap 90% Short hallux 90% Abnormality of frontal sinus 50% Aplasia/Hypoplasia of the thumb 50% Bowing of the long bones 50% Brachydactyly syndrome 50% Craniofacial hyperostosis 50% Elbow dislocation 50% Increased bone mineral density 50% Proximal placement of thumb 50% Short distal phalanx of finger 50% Synostosis of carpal bones 7.5% Tarsal synostosis 7.5% Abnormality of the fifth metatarsal bone - Absent frontal sinuses - Accessory carpal bones - Bipartite calcaneus - Broad distal phalanx of the thumb - Broad hallux - Bulbous tips of toes - Capitate-hamate fusion - Conductive hearing impairment - Coxa valga - Delayed closure of the anterior fontanelle - Dislocated radial head - Flat face - Frontal bossing - Hip dislocation - Intellectual disability, mild - Lateral femoral bowing - Limited elbow extension - Limited knee flexion - Malar flattening - Multiple impacted teeth - Nail dysplasia - Nail dystrophy - Narrow mouth - Omphalocele - Pectus excavatum - Prominent occiput - Scoliosis - Selective tooth agenesis - Short 3rd metacarpal - Short 4th metacarpal - Short 5th metacarpal - Short nose - Short stature - Thick skull base - Toe syndactyly - Wide nasal bridge - X-linked dominant inheritance - 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 Simosa cranio facial syndrome ? ### Response:

What are the signs and symptoms of Simosa cranio facial syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Simosa cranio 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% Abnormality of the antitragus 90% Abnormality of the palate 90% Abnormality of the tragus 90% Abnormality of the voice 90% Aplasia/Hypoplasia of the earlobes 90% Aplasia/Hypoplasia of the eyebrow 90% Blepharophimosis 90% Broad forehead 90% Chin dimple 90% Downturned corners of mouth 90% High forehead 90% Highly arched eyebrow 90% Hypoplasia of the zygomatic bone 90% Long face 90% Long philtrum 90% Macrotia 90% Malar flattening 90% Narrow mouth 90% Telecanthus 90% Underdeveloped nasal alae 90% Wide nasal bridge 90% Cryptorchidism 50% Hernia of the abdominal wall 50% Low-set, posteriorly rotated ears 50% Scoliosis 50% Scrotal hypoplasia 50% Camptodactyly of finger 7.5% Abnormality of the pinna 2/2 Abnormality of the skin 2/2 Blepharophimosis 2/2 Broad forehead 2/2 Depressed nasal tip 2/2 High, narrow palate 2/2 Highly arched eyebrow 2/2 Inguinal hernia 2/2 Long face 2/2 Long nose 2/2 Long philtrum 2/2 Low-set ears 2/2 Malar flattening 2/2 Narrow mouth 2/2 Nasal speech 2/2 Posteriorly rotated ears 2/2 Sparse eyebrow 2/2 Telecanthus 2/2 Underdeveloped nasal alae 2/2 Wide nasal bridge 2/2 Autosomal dominant inheritance - 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 Lujan syndrome ? ### Response:

What are the signs and symptoms of Lujan syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lujan 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 palate 90% Abnormality of the voice 90% Cognitive impairment 90% Disproportionate tall stature 90% High forehead 90% Macrocephaly 90% Muscular hypotonia 90% Neurological speech impairment 90% Scoliosis 90% Aplasia/Hypoplasia of the corpus callosum 50% Arachnodactyly 50% Atria septal defect 50% Attention deficit hyperactivity disorder 50% Hypoplasia of the zygomatic bone 50% Joint hypermobility 50% Macroorchidism 50% Narrow face 50% Pectus excavatum 50% Prominent nasal bridge 50% Short philtrum 50% Abnormality of calvarial morphology 7.5% Abnormality of the pinna 7.5% Abnormality of the teeth 7.5% Brachydactyly syndrome 7.5% Camptodactyly of finger 7.5% Hallucinations 7.5% Low-set, posteriorly rotated ears 7.5% Seizures 7.5% Abnormality of the genitourinary system - Abnormality of the rib cage - Abnormally folded helix - Agenesis of corpus callosum - Aggressive behavior - Ascending aortic aneurysm - Autism - Broad thumb - Deep philtrum - Dental crowding - Emotional lability - Flexion contracture - Frontal bossing - Generalized hypotonia - High palate - Hyperactivity - Hypoplasia of the maxilla - Impaired social interactions - Intellectual disability - Joint laxity - Long face - Long nose - Low frustration tolerance - Low-set ears - Narrow nasal bridge - Nasal speech - Obsessive-compulsive behavior - Open mouth - Prominent forehead - Psychosis - Ventricular septal defect - X-linked recessive inheritance - 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) psoriatic arthritis ? ### Response:

Psoriatic arthritis is a condition involving joint inflammation (arthritis) that usually occurs in combination with a skin disorder called psoriasis. Psoriasis is a chronic inflammatory condition characterized by patches of red, irritated skin that are often covered by flaky white scales. People with psoriasis may also have changes in their fingernails and toenails, such as nails that become pitted or ridged, crumble, or separate from the nail beds. Signs and symptoms of psoriatic arthritis include stiff, painful joints with redness, heat, and swelling in the surrounding tissues. When the hands and feet are affected, swelling and redness may result in a "sausage-like" appearance of the fingers or toes (dactylitis). In most people with psoriatic arthritis, psoriasis appears before joint problems develop. Psoriasis typically begins during adolescence or young adulthood, and psoriatic arthritis usually occurs between the ages of 30 and 50. However, both conditions may occur at any age. In a small number of cases, psoriatic arthritis develops in the absence of noticeable skin changes. Psoriatic arthritis may be difficult to distinguish from other forms of arthritis, particularly when skin changes are minimal or absent. Nail changes and dactylitis are two features that are characteristic of psoriatic arthritis, although they do not occur in all cases. Psoriatic arthritis is categorized into five types: distal interphalangeal predominant, asymmetric oligoarticular, symmetric polyarthritis, spondylitis, and arthritis mutilans. The distal interphalangeal predominant type affects mainly the ends of the fingers and toes. The distal interphalangeal joints are those closest to the nails. Nail changes are especially frequent with this form of psoriatic arthritis. The asymmetric oligoarticular and symmetric polyarthritis types are the most common forms of psoriatic arthritis. The asymmetric oligoarticular type of psoriatic arthritis involves different joints on each side of the body, while the symmetric polyarthritis form affects the same joints on each side. Any joint in the body may be affected in these forms of the disorder, and symptoms range from mild to severe. Some individuals with psoriatic arthritis have joint involvement that primarily involves spondylitis, which is inflammation in the joints between the vertebrae in the spine. Symptoms of this form of the disorder involve pain and stiffness in the back or neck, and movement is often impaired. Joints in the arms, legs, hands, and feet may also be involved. The most severe and least common type of psoriatic arthritis is called arthritis mutilans. Fewer than 5 percent of individuals with psoriatic arthritis have this form of the disorder. Arthritis mutilans involves severe inflammation that damages the joints in the hands and feet, resulting in deformation and movement problems. Bone loss (osteolysis) at the joints may lead to shortening (telescoping) of the fingers and toes. Neck and back pain may also occur.

### Question: What is (are) dystrophic epidermolysis bullosa ? ### Response:

Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Blisters and skin erosions form in response to minor injury or friction, such as rubbing or scratching. Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases of this condition involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. Researchers classify dystrophic epidermolysis bullosa into three major types. Although the types differ in severity, their features overlap significantly and they are caused by mutations in the same gene. Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (RDEB-HS) is the most severe, classic form of the condition. Affected infants are typically born with widespread blistering and areas of missing skin, often caused by trauma during birth. Most often, blisters are present over the whole body and affect mucous membranes such as the moist lining of the mouth and digestive tract. As the blisters heal, they result in severe scarring. Scarring in the mouth and esophagus can make it difficult to chew and swallow food, leading to chronic malnutrition and slow growth. Additional complications of progressive scarring can include fusion of the fingers and toes, loss of fingernails and toenails, joint deformities (contractures) that restrict movement, and eye inflammation leading to vision loss. Additionally, young adults with the classic form of dystrophic epidermolysis bullosa have a very high risk of developing a form of skin cancer called squamous cell carcinoma, which tends to be unusually aggressive and is often life-threatening. A second type of autosomal recessive dystrophic epidermolysis bullosa is known as the non-Hallopeau-Siemens type (non-HS RDEB). This form of the condition is somewhat less severe than the classic type and includes a range of subtypes. Blistering is limited to the hands, feet, knees, and elbows in mild cases, but may be widespread in more severe cases. Affected people often have malformed fingernails and toenails. Non-HS RDEB involves scarring in the areas where blisters occur, but this form of the condition does not cause the severe scarring characteristic of the classic type. The third major type of dystrophic epidermolysis bullosa is known as the autosomal dominant type (DDEB). The signs and symptoms of this condition tend to be milder than those of the autosomal recessive forms, with blistering often limited to the hands, feet, knees, and elbows. The blisters heal with scarring, but it is less severe. Most affected people have malformed fingernails and toenails, and the nails may be lost over time. In the mildest cases, abnormal nails are the only sign of the condition.

### Question: Is Mitochondrial genetic disorders inherited ? ### Response:

Are mitochondrial genetic disorders inherited? Mitochondrial genetic disorder can be inherited in a variety of manners depending on the type of condition and the location of the disease-causing change (mutation). Those caused by mutations in mitochondrial DNA are transmitted by maternal inheritance. Only egg cells (not sperm cells) contribute mitochondria to the next generation, so only females can pass on mitochondrial mutations to their children. Conditions resulting from mutations in mitochondrial DNA can appear in every generation of a family and can affect both males and females. In some cases, the condition results from a new (de novo) mutation in a mitochondrial gene and occurs in a person with no history of the condition in the family. Mitochondrial genetic disorders caused by mutations in nuclear DNA may follow an autosomal dominant, autosomal recessive, or X-linked pattern of inheritance. In autosomal dominant conditions, one mutated copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with an autosomal dominant condition has a 50% chance with each pregnancy of passing along the altered gene to his or her child. When a condition is inherited in an autosomal recessive manner, a person must have a change in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. X-linked conditions can be X-linked dominant or X-linked recessive. The inheritance is X-linked dominant if one copy of the altered gene in each cell is sufficient to cause the condition. Women with an X-linked dominant condition have a 50% chance of passing the condition on to a son or a daughter with each pregnancy. Men with an X-linked dominant condition will pass the condition on to all of their daughters and none of their sons. The inheritance is X-linked recessive if a gene on the X chromosome causes the condition in men with one gene mutation (they have only one X chromosome) and in females with two gene mutations (they have two X chromosomes). A woman with an X-linked condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons.

### Question: What are the treatments for Diverticular Disease ? ### Response:

Diverticulitis can attack suddenly and cause complications, such as - an abscessa painful, swollen, pus-filled area just outside the colon wallcaused by infection - a perforationa small tear or hole in the diverticula - peritonitisinflammation of tissues inside the abdomen from pus and stool that leak through a perforation - a fistulaan abnormal passage, or tunnel, between two organs, or between an organ and the outside of the body - intestinal obstructionpartial or total blockage of movement of food or stool through the intestines These complications need to be treated to prevent them from getting worse and causing serious illness. In some cases, surgery may be needed. Abscess, perforation, and peritonitis. Antibiotic treatment of diverticulitis usually prevents or treats an abscess. If the abscess is large or does not clear up with antibiotics, it may need to be drained. After giving the person numbing medication, a radiologist inserts a needle through the skin to the abscess and then drains the fluid through a catheter. The procedure is usually guided by an abdominal ultrasound or a CT scan. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. A person with a perforation usually needs surgery to repair the tear or hole. Sometimes, a person needs surgery to remove a small part of the intestine if the perforation cannot be repaired. A person with peritonitis may be extremely ill, with nausea, vomiting, fever, and severe abdominal tenderness. This condition requires immediate surgery to clean the abdominal cavity and possibly a colon resection at a later date after a course of antibiotics. A blood transfusion may be needed if the person has lost a significant amount of blood. Without prompt treatment, peritonitis can be fatal. Fistula. Diverticulitis-related infection may lead to one or more fistulas. Fistulas usually form between the colon and the bladder, small intestine, or skin. The most common type of fistula occurs between the colon and the bladder. Fistulas can be corrected with a colon resection and removal of the fistula. Intestinal obstruction. Diverticulitis-related inflammation or scarring caused by past inflammation may lead to intestinal obstruction. If the intestine is completely blocked, emergency surgery is necessary, with possible colon resection. Partial blockage is not an emergency, so the surgery or other procedures to correct it can be scheduled. When urgent surgery with colon resection is necessary for diverticulitis, two procedures may be needed because it is not safe to rejoin the colon right away. During the colon resection, the surgeon performs a temporary colostomy, creating an opening, or stoma, in the abdomen. The end of the colon is connected to the opening to allow normal eating while healing occurs. Stool is collected in a pouch attached to the stoma on the abdominal wall. In the second surgery, several months later, the surgeon rejoins the ends of the colon and closes the stoma.

### Question: Who is at risk for Carotid Artery Disease? ? ### Response:

The major risk factors for carotid artery disease, listed below, also are the major risk factors for coronary heart disease (also called coronary artery disease) and peripheral artery disease. Diabetes. With this disease, the bodys blood sugar level is too high because the body doesnt make enough insulin or doesnt use its insulin properly. People who have diabetes are four times more likely to have carotid artery disease than are people who dont have diabetes. Family history of atherosclerosis. People who have a family history of atherosclerosis are more likely to develop carotid artery disease. High blood pressure (Hypertension). Blood pressure is considered high if it stays at or above 140/90 mmHg over time. If you have diabetes or chronic kidney disease, high blood pressure is defined as 130/80 mmHg or higher. (The mmHg is millimeters of mercurythe units used to measure blood pressure.) Lack of physical activity.Too much sitting (sedentary lifestyle) and a lack of aerobic activity can worsen other risk factors for carotid artery disease, such as unhealthy blood cholesterol levels, high blood pressure, diabetes, and overweight or obesity. Metabolic syndrome. Metabolic syndrome is the name for a group of risk factors that raise your risk for stroke and other health problems, such as diabetes and heart disease. The five metabolic risk factors are a large waistline (abdominal obesity), a high triglyceride level (a type of fat found in the blood), a low HDL cholesterol level, high blood pressure, and high blood sugar. Metabolic syndrome is diagnosed if you have at least three of these metabolic risk factors. Older age. As you age, your risk for atherosclerosis increases. The process of atherosclerosis begins in youth and typically progresses over many decades before diseases develop. Overweight or obesity. The terms overweight and obesity refer to body weight thats greater than what is considered healthy for a certain height. Smoking. Smoking can damage and tighten blood vessels, lead to unhealthy cholesterol levels, and raise blood pressure. Smoking also can limit how much oxygen reaches the bodys tissues. Unhealthy blood cholesterol levels. This includes high LDL (bad) cholesterol) and low HDL (good) cholesterol. Unhealthy diet. An unhealthy diet can raise your risk for carotid artery disease. Foods that are high in saturated and trans fats, cholesterol, sodium, and sugar can worsen other risk factors for carotid artery disease. Having any of these risk factors does not guarantee that youll develop carotid artery disease. However, if you know that you have one or more risk factors, you can take steps to help prevent or delay the disease. If you have plaque buildup in your carotid arteries, you also may have plaque buildup in other arteries. People who have carotid artery disease also are at increased risk for coronary heartdisease.

### Question: What are the symptoms of Empty sella syndrome ? ### Response:

What are the signs and symptoms of Empty sella syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Empty sella 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) Atresia of the external auditory canal 90% Conductive hearing impairment 90% Dolichocephaly 90% Dural ectasia 90% Hypoplasia of the zygomatic bone 90% Low-set, posteriorly rotated ears 90% Meningocele 90% Narrow face 90% Ptosis 90% Wormian bones 90% Abnormal form of the vertebral bodies 50% Abnormality of the teeth 50% Craniofacial hyperostosis 50% Joint hypermobility 50% Low posterior hairline 50% Pectus excavatum 50% Prominent metopic ridge 50% Scoliosis 50% Short neck 50% Short stature 50% Umbilical hernia 50% Arnold-Chiari malformation 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Epicanthus 7.5% Hyperlordosis 7.5% Hypertelorism 7.5% Iris coloboma 7.5% Kyphosis 7.5% Muscular hypotonia 7.5% Proptosis 7.5% Sensorineural hearing impairment 7.5% Syringomyelia 7.5% Ventricular septal defect 7.5% Abnormality of the middle ear ossicles - Abnormality of the rib cage - Abnormality of the skin - Arachnoid cyst - Arnold-Chiari type I malformation - Autosomal dominant inheritance - Biconcave vertebral bodies - Dental crowding - High palate - Inguinal hernia - Long philtrum - Low-set ears - Malar flattening - Patent ductus arteriosus - Platybasia - Posteriorly rotated ears - Sclerosis of skull base - Short nasal bridge - Smooth philtrum - Vertebral fusion - 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) Barth syndrome ? ### Response:

Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal myopathy), recurrent infections due to small numbers of white blood cells (neutropenia), and short stature. Barth syndrome occurs almost exclusively in males. In males with Barth syndrome, dilated cardiomyopathy is often present at birth or develops within the first months of life. Over time, the heart muscle becomes increasingly weakened and is less able to pump blood. Individuals with Barth syndrome may have elastic fibers in place of muscle fibers in some areas of the heart muscle, which contributes to the cardiomyopathy. This condition is called endocardial fibroelastosis; it results in thickening of the muscle and impairs its ability to pump blood. In people with Barth syndrome, the heart problems can lead to heart failure. In rare cases, the cardiomyopathy gets better over time and affected individuals eventually have no symptoms of heart disease. In Barth syndrome, skeletal myopathy, particularly of the muscles closest to the center of the body (proximal muscles), is usually noticeable from birth and causes low muscle tone (hypotonia). The muscle weakness often causes delay of motor skills such as crawling and walking. Additionally, affected individuals tend to experience extreme tiredness (fatigue) during strenuous physical activity. Most males with Barth syndrome have neutropenia. The levels of white blood cells can be consistently low (persistent), can vary from normal to low (intermittent), or can cycle between regular episodes of normal and low (cyclical). Neutropenia makes it more difficult for the body to fight off foreign invaders such as bacteria and viruses, so affected individuals have an increased risk of recurrent infections. Newborns with Barth syndrome are often smaller than normal, and their growth continues to be slow throughout life. Some boys with this condition experience a growth spurt in puberty and are of average height as adults, but many men with Barth syndrome continue to have short stature in adulthood. Males with Barth syndrome often have distinctive facial features including prominent cheeks. Affected individuals typically have normal intelligence but often have difficulty performing tasks involving math or visual-spatial skills such as puzzles. Males with Barth syndrome have increased levels of a substance called 3-methylglutaconic acid in their blood and urine. The amount of the acid does not appear to influence the signs and symptoms of the condition. Barth syndrome is one of a group of metabolic disorders that can be diagnosed by the presence of increased levels of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). Even though most features of Barth syndrome are present at birth or in infancy, affected individuals may not experience health problems until later in life. The age at which individuals with Barth syndrome display symptoms or are diagnosed varies greatly. The severity of signs and symptoms among affected individuals is also highly variable. Males with Barth syndrome have a reduced life expectancy. Many affected children die of heart failure or infection in infancy or early childhood, but those who live into adulthood can survive into their late forties.

### Question: What are the symptoms of Polyarteritis nodosa ? ### Response:

What are the signs and symptoms of Polyarteritis nodosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Polyarteritis nodosa. 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) Abdominal pain 90% Abnormal pyramidal signs 90% Abnormality of temperature regulation 90% Aneurysm 90% Arthralgia 90% Asthma 90% Cutis marmorata 90% Edema of the lower limbs 90% Hemiplegia/hemiparesis 90% Hypertensive crisis 90% Hypertrophic cardiomyopathy 90% Migraine 90% Myalgia 90% Nephropathy 90% Orchitis 90% Paresthesia 90% Polyneuropathy 90% Renal insufficiency 90% Skin rash 90% Subcutaneous hemorrhage 90% Vasculitis 90% Weight loss 90% Arrhythmia 50% Behavioral abnormality 50% Coronary artery disease 50% Gangrene 50% Gastrointestinal hemorrhage 50% Gastrointestinal infarctions 50% Leukocytosis 50% Seizures 50% Skin ulcer 50% Urticaria 50% Abnormality of extrapyramidal motor function 7.5% Abnormality of the pericardium 7.5% Abnormality of the retinal vasculature 7.5% Acrocyanosis 7.5% Arterial thrombosis 7.5% Arthritis 7.5% Ascites 7.5% Autoimmunity 7.5% Congestive heart failure 7.5% Encephalitis 7.5% Hemobilia 7.5% Inflammatory abnormality of the eye 7.5% Malabsorption 7.5% Myositis 7.5% Osteolysis 7.5% Osteomyelitis 7.5% Pancreatitis 7.5% Retinal detachment 7.5% Ureteral stenosis 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: Is Spinocerebellar ataxia 11 inherited ? ### Response:

How is spinocerebellar ataxia type 11 inherited? SCA11 is inherited in an autosomal dominant manner. The rate of de novo mutations is not known. Each child of an individual with SCA11 has a 50% chance of inheriting the mutation. Prenatal diagnosis for at-risk pregnancies is possible if the diagnosis has been confirmed by molecular genetic testing in a parent. Each child of an individual with SCA11 has a 50% chance of inheriting the mutation. Genetic testing of adults who do not have any symptoms but are at-risk of having inherited the mutation is possible. However, testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression in individuals who do not have any symptom. The affected family member should be tested first to confirm the molecular diagnosis in the family. The best person who can answer questions and address any concerns about inheritance questions is a genetic professional. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral. The following online resources can also help you find a genetics professional in your community: GeneTests offers a searchable directory of U.S. and international genetics and prenatal diagnosis clinics. https://www.genetests.org/clinics The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services. http://nsgc.org/p/cm/ld/fid=164 The American College of Medical Genetics has a searchable database of US genetics clinics. https://www.acmg.net/ACMG/Find_Genetic_Services/ACMG/ISGweb/FindaGeneticService.aspx?hkey=720856ab-a827-42fb-a788-b618b15079f9 The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments. http://www.kumc.edu/GEC/prof/genecntr.html The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care. http://www.ashg.org/pages/member_search.shtml The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Please see a list of laboratories offering the genetic test for spinocerebellar ataxia type 11. For detailed information on testing, inheritance and genetic counseling and a comprehensive review of spinocerebellar ataxia type 11 you can visit GeneReviews. GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. http://www.ncbi.nlm.nih.gov/books/NBK1757/

### Question: What are the symptoms of Wilson Disease ? ### Response:

The signs and symptoms of Wilson disease vary, depending on what organs of the body are affected. Wilson disease is present at birth; however, the signs and symptoms of the disease do not appear until the copper builds up in the liver, the brain, or other organs. When people have signs and symptoms, they usually affect the liver, the central nervous system, or both. The central nervous system includes the brain, the spinal cord, and nerves throughout the body. Sometimes a person does not have symptoms and a health care provider discovers the disease during a routine physical exam or blood test, or during an illness. Children can have Wilson disease for several years before any signs and symptoms occur. People with Wilson disease may have - liver-related signs and symptoms - central nervous system-related signs and symptoms - mental health-related signs and symptoms - other signs and symptoms Liver-related Signs and Symptoms People with Wilson disease may develop signs and symptoms of chronic, or long lasting, liver disease: - weakness - fatigue, or feeling tired - loss of appetite - nausea - vomiting - weight loss - pain and bloating from fluid accumulating in the abdomen - edemaswelling, usually in the legs, feet, or ankles and less often in the hands or face - itching - spiderlike blood vessels, called spider angiomas, near the surface of the skin - muscle cramps - jaundice, a condition that causes the skin and whites of the eyes to turn yellow Some people with Wilson disease may not develop signs or symptoms of liver disease until they develop acute liver failurea condition that develops suddenly. Central Nervous System-related Signs and Symptoms Central nervous system-related symptoms usually appear in people after the liver has retained a lot of copper; however, signs and symptoms of liver disease may not be present. Central nervous system-related symptoms occur most often in adults and sometimes occur in children.1 Signs and symptoms include - tremors or uncontrolled movements - muscle stiffness - problems with speech, swallowing, or physical coordination A health care provider may refer people with these symptoms to a neurologista doctor who specializes in nervous system diseases. Mental Health-related Signs and Symptoms Some people will have mental health-related signs and symptoms when copper builds up in the central nervous system. Signs and symptoms may include - personality changes - depression - feeling anxious, or nervous, about most things - psychosiswhen a person loses contact with reality Other Signs and Symptoms Other signs and symptoms of Wilson disease may include - anemia, a condition in which red blood cells are fewer or smaller than normal, which prevents the bodys cells from getting enough oxygen - arthritis, a condition in which a person has pain and swelling in one or more joints - high levels of amino acids, protein, uric acid, and carbohydrates in urine - low platelet or white blood cell count - osteoporosis, a condition in which the bones become less dense and more likely to fracture

### Question: What is (are) Hairy Cell Leukemia ? ### Response:

Key Points - Hairy cell 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. - Gender and age may affect the risk of hairy cell leukemia. - Signs and symptoms of hairy cell leukemia include infections, tiredness, and pain below the ribs. - Tests that examine the blood and bone marrow are used to detect (find) and diagnose hairy cell leukemia. - Certain factors affect treatment options and prognosis (chance of recovery). Hairy cell leukemia is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). Hairy cell leukemia is a cancer of the blood and bone marrow. This rare type of leukemia gets worse slowly or does not get worse at all. The disease is called hairy cell leukemia because the leukemia cells look "hairy" when viewed under a microscope. 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. - 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 into 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 help fight infection. - Natural killer cells that attack cancer cells and viruses. In hairy cell leukemia, too many blood stem cells become lymphocytes. These lymphocytes are abnormal and do not become healthy white blood cells. They are also called leukemia cells. The leukemia cells can build up in the blood and bone marrow so there is less room for healthy white blood cells, red blood cells, and platelets. This may cause infection, anemia, and easy bleeding. Some of the leukemia cells may collect in the spleen and cause it to swell. This summary is about hairy cell leukemia. See the following PDQ summaries for information about other types of leukemia: - Adult Acute Lymphoblastic Leukemia Treatment. - Childhood Acute Lymphoblastic Leukemia Treatment. - Chronic Lymphocytic Leukemia Treatment. - Adult Acute Myeloid Leukemia Treatment. - Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment. - Chronic Myelogenous Leukemia Treatment.

### Question: What are the symptoms of Atherosclerosis ? ### Response:

Atherosclerosis usually doesn't cause signs and symptoms until it severely narrows or totally blocks an artery. Many people don't know they have the disease until they have a medical emergency, such as a heart attack or stroke. Some people may have signs and symptoms of the disease. Signs and symptoms will depend on which arteries are affected. Coronary Arteries The coronary arteries supply oxygen-rich blood to your heart. If plaque narrows or blocks these arteries (a disease called coronary heart disease, or CHD), a common symptom is angina. Angina is chest pain or discomfort that occurs when your heart muscle doesn't get enough oxygen-rich blood. Angina may feel like pressure or squeezing in your chest. You also may feel it in your shoulders, arms, neck, jaw, or back. Angina pain may even feel like indigestion. The pain tends to get worse with activity and go away with rest. Emotional stress also can trigger the pain. Other symptoms of CHD are shortness of breath and arrhythmias (ah-RITH-me-ahs). Arrhythmias are problems with the rate or rhythm of the heartbeat. Plaque also can form in the heart's smallest arteries. This disease is called coronary microvascular disease (MVD). Symptoms of coronary MVD include angina, shortness of breath, sleep problems, fatigue (tiredness), and lack of energy. Carotid Arteries The carotid arteries supply oxygen-rich blood to your brain. If plaque narrows or blocks these arteries (a disease called carotid artery disease), you may have symptoms of a stroke. These symptoms may include: Sudden weakness Paralysis (an inability to move) or numbness of the face, arms, or legs, especially on one side of the body Confusion Trouble speaking or understanding speech Trouble seeing in one or both eyes Problems breathing Dizziness, trouble walking, loss of balance or coordination, and unexplained falls Loss of consciousness Sudden and severe headache Peripheral Arteries Plaque also can build up in the major arteries that supply oxygen-rich blood to the legs, arms, and pelvis (a disease calledperipheral artery disease). If these major arteries are narrowed or blocked, you may have numbness, pain, and, sometimes, dangerous infections. Renal Arteries The renal arteries supply oxygen-rich blood to your kidneys. If plaque builds up in these arteries, you may develop chronic kidney disease. Over time, chronic kidney disease causes a slow loss of kidney function. Early kidney disease often has no signs or symptoms. As the disease gets worse it can cause tiredness, changes in how you urinate (more often or less often), loss of appetite, nausea (feeling sick to the stomach), swelling in the hands or feet, itchiness or numbness, and trouble concentrating.

### Question: What is (are) Nicolaides-Baraitser syndrome ? ### Response:

Nicolaides-Baraitser syndrome is a condition that affects many body systems. Affected individuals can have a wide variety of signs and symptoms, but the most common are sparse scalp hair, small head size (microcephaly), distinct facial features, short stature, prominent finger joints, unusually short fingers and toes (brachydactyly), recurrent seizures (epilepsy), and moderate to severe intellectual disability with impaired language development. In people with Nicolaides-Baraitser syndrome, the sparse scalp hair is often noticeable in infancy. The amount of hair decreases over time, but the growth rate and texture of the hair that is present is normal. Affected adults generally have very little hair. In rare cases, the amount of scalp hair increases over time. As affected individuals age, their eyebrows may become less full, but their eyelashes almost always remain normal. At birth, the hair on the face may be abnormally thick (hypertrichosis) but thins out over time. Most affected individuals grow slowly, resulting in short stature and microcephaly. Sometimes, growth before birth is unusually slow. The characteristic facial features of people with Nicolaides-Baraitser syndrome include a triangular face, deep-set eyes, a thin nasal bridge, wide nostrils, a pointed nasal tip, and a thick lower lip. Many affected individuals have a lack of fat under the skin (subcutaneous fat) of the face, which may cause premature wrinkling. Throughout their bodies, people with Nicolaides-Baraitser syndrome may have pale skin with veins that are visible on the skin surface due to the lack of subcutaneous fat. In people with Nicolaides-Baraitser syndrome, a lack of subcutaneous fat in the hands makes the finger joints appear larger than normal. Over time, the fingertips become broad and oval shaped. Additionally, there is a wide gap between the first and second toes (known as a sandal gap). Most people with Nicolaides-Baraitser syndrome have epilepsy, which often begins in infancy. Affected individuals can experience multiple seizure types, and the seizures can be difficult to control with medication. Almost everyone with Nicolaides-Baraitser syndrome has moderate to severe intellectual disability. Early developmental milestones, such as crawling and walking, are often normally achieved, but further development is limited, and language development is severely impaired. At least one-third of affected individuals never develop speech, while others lose their verbal communication over time. People with this condition are often described as having a happy demeanor and being very friendly, although they can exhibit moments of aggression and temper tantrums. Other signs and symptoms of Nicolaides-Baraitser syndrome include an inflammatory skin disorder called eczema. About half of individuals with Nicolaides-Baraitser syndrome have a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). Some affected individuals have dental abnormalities such as widely spaced teeth, delayed eruption of teeth, and absent teeth (hypodontia). Most affected males have undescended testes (cryptorchidism) and females may have underdeveloped breasts. Nearly half of individuals with Nicolaides-Baraitser syndrome have feeding problems.

### Question: How to diagnose Hairy Cell Leukemia ? ### Response:

Tests that examine the blood and bone marrow are used to detect (find) and diagnose hairy cell leukemia. 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 a swollen spleen, lumps, or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - 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 sample made up of red blood cells. - Peripheral blood smear : A procedure in which a sample of blood is checked for cells that look "hairy," the number and kinds of white blood cells, the number of platelets, and changes in the shape of 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, blood, and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to look for signs of cancer. - Immunophenotyping : A laboratory test in which the antigens or markers on the surface of a blood or bone marrow cell are checked to see what type of cell it is. This test is done to diagnose the specific type of leukemia by comparing the cancer cells to normal cells of the immune system. - Flow cytometry : A laboratory test that measures the number of cells in a sample, the percentage of live cells in a sample, and certain characteristics of cells, such as size, shape, and the presence of tumor markers on the cell surface. The cells are stained with a light-sensitive dye, placed in a fluid, and passed in a stream before a laser or other type of light. The measurements are based on how the light-sensitive dye reacts to the light. - 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. - Gene mutation test: A laboratory test done on a bone marrow or blood sample to check for mutations in the BRAF gene. A BRAF gene mutation is often found in patients with hairy cell leukemia. - 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. A CT scan of the abdomen may be done to check for swollen lymph nodes or a swollen spleen.

### Question: How to diagnose Pericarditis ? ### Response:

Your doctor will diagnose pericarditis based on your medical history, a physical exam, and the results from tests. Specialists Involved Primary care doctorssuch as a family doctor, internist, or pediatricianoften diagnose and treat pericarditis. Other types of doctors also may be involved, such as a cardiologist, pediatric cardiologist, and an infectious disease specialist. A cardiologist treats adults who have heart problems. A pediatric cardiologist treats children who have heart problems. An infectious disease specialist treats people who have infections. Medical History Your doctor may ask whether you: Have had a recent respiratory infection or flu-like illness Have had a recent heart attack or injury to your chest Have any other medical conditions Your doctor also may ask about your symptoms. If you have chest pain, he or she will ask you to describe how it feels, where it's located, and whether it's worse when you lie down, breathe, or cough. Physical Exam When the pericardium (the sac around your heart) is inflamed, the amount of fluid between its two layers of tissue increases. As part of the exam, your doctor will look for signs of excess fluid in your chest. A common sign is the pericardial rub. This is the sound of the pericardium rubbing against the outer layer of your heart. Your doctor will place a stethoscope on your chest to listen for this sound. Your doctor may hear other chest sounds that are signs of fluid in the pericardium (pericardial effusion) or the lungs (pleural effusion). These are more severe problems related to pericarditis. Diagnostic Tests Your doctor may recommend one or more tests to diagnose your condition and show how severe it is. The most common tests are: EKG (electrocardiogram). This simple test detects and records your heart's electrical activity. Certain EKG results suggest pericarditis. Chest x ray. A chest x ray creates pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. The pictures can show whether you have an enlarged heart. This is a sign of excess fluid in your pericardium. Echocardiography. This painless test uses sound waves to create pictures of your heart. The pictures show the size and shape of your heart and how well your heart is working. This test can show whether fluid has built up in the pericardium. Cardiac CT (computed tomography (to-MOG-rah-fee)). This is a type of x ray that takes a clear, detailed picture of your heart and pericardium. A cardiac CT helps rule out other causes of chest pain. Cardiac MRI (magnetic resonance imaging). This test uses powerful magnets and radio waves to create detailed pictures of your organs and tissues. A cardiac MRI can show changes in the pericardium. Your doctor also may recommend blood tests. These tests can help your doctor find out whether you've had a heart attack, the cause of your pericarditis, and how inflamed your pericardium is.

### Question: What are the symptoms of Leri Weill dyschondrosteosis ? ### Response:

What are the signs and symptoms of Leri Weill dyschondrosteosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Leri Weill dyschondrosteosis. 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 hip bone 90% Abnormality of the humeroulnar joint 90% Abnormality of the humerus 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Abnormality of the tibia 90% Abnormality of the ulna 90% Anonychia 90% Aplasia/Hypoplasia of the radius 90% Aplastic/hypoplastic toenail 90% Arthralgia 90% Bone pain 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Cone-shaped epiphysis 90% Depressed nasal bridge 90% Exostoses 90% Genu varum 90% Limitation of joint mobility 90% Madelung deformity 90% Micromelia 90% Patellar aplasia 90% Short stature 90% Abnormality of calvarial morphology 50% Elbow dislocation 50% Genu valgum 50% Osteoarthritis 50% Scoliosis 50% Nephropathy 7.5% Abnormality of the carpal bones - Abnormality of the metatarsal bones - Autosomal dominant inheritance - Coxa valga - Disproportionate short-limb short stature - Dorsal subluxation of ulna - Fibular hypoplasia - High palate - Hypoplasia of the radius - Hypoplasia of the ulna - Increased carrying angle - Limited elbow movement - Limited wrist movement - Mesomelia - Multiple exostoses - Radial bowing - Short 4th metacarpal - Short tibia - Short toe - Skeletal muscle hypertrophy - Tibial bowing - 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 CREST syndrome ? ### Response:

What are the signs and symptoms of CREST syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for CREST 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 gastric mucosa 90% Acrocyanosis 90% Arthralgia 90% Arthritis 90% Atypical scarring of skin 90% Autoimmunity 90% Chest pain 90% Chondrocalcinosis 90% Edema 90% Hyperkeratosis 90% Lack of skin elasticity 90% Myalgia 90% Nausea and vomiting 90% Skeletal muscle atrophy 90% Weight loss 90% Abnormality of the myocardium 50% Abnormality of the pericardium 50% Carious teeth 50% Feeding difficulties in infancy 50% Gangrene 50% Malabsorption 50% Mucosal telangiectasiae 50% Myositis 50% Pulmonary fibrosis 50% Pulmonary infiltrates 50% Respiratory insufficiency 50% Skin ulcer 50% Telangiectasia of the skin 50% Trismus 50% Xerostomia 50% Abnormal renal physiology 7.5% Abnormal tendon morphology 7.5% Arrhythmia 7.5% Bowel incontinence 7.5% Coronary artery disease 7.5% Erectile abnormalities 7.5% Hypertensive crisis 7.5% Irregular hyperpigmentation 7.5% Migraine 7.5% Narrow mouth 7.5% Osteolysis 7.5% Osteomyelitis 7.5% Peripheral neuropathy 7.5% Pulmonary hypertension 7.5% Seizures 7.5% Abnormality of chromosome stability - Abnormality of the abdomen - Autosomal dominant inheritance - Calcinosis - Sclerodactyly - Scleroderma - Telangiectasia - 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 Dopa-responsive dystonia ? ### Response:

What are the signs and symptoms of Dopa-responsive dystonia? The most common form of dopa-responsive dystonia (DRD) is autosomal dominant DRD (caused by a mutation in the GCH1 gene). This form of DRD is usually characterized by childhood-onset dystonia that may be associated with parkinsonism at an older age. The average age of onset is 6 years, and females are 2-4 times more likely than males to be affected. Symptoms usually begin with lower limb dystonia, resulting in gait problems that can cause stumbling and falling. Symptoms are often worse later in the day, a phenomenon known as diurnal fluctuation. In rare cases, the first symptom may be arm dystonia, tremor of the hands, slowness of movements, or cervical dystonia. This form of DRD usually progresses to affect the whole body, and some people also develop parkinsonism. Depression, anxiety, sleep disturbances and obsessive-compulsive disorder have been reported in some people. Intellectual function is normal. Those with onset at older ages tend to be more mildly affected. Another form of DRD is due to a rare condition called sepiapterin reductase deficiency, which is inherited in an autosomal recessive manner. This form of DRD is also characterized by dystonia with diurnal fluctuations, but also affects motor and cognitive development. Onset usually occurs before the first year of life. Sleep disturbances and psychological symptoms (anxiety, irritability) are common later in childhood. A third form of DRD is autosomal recessive DRD, also called tyrosine hydroxylase deficiency. This form is characterized by a spectrum of symptoms, ranging from those seen in the autosomal dominant form to progressive infantile encephalopathy. Onset is usually in infancy. Intellectual disability, developmental motor delay, and various other features may be present. The Human Phenotype Ontology provides the following list of signs and symptoms for Dopa-responsive dystonia. 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) Gait disturbance 90% Hypertonia 90% 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 Parasites - African Trypanosomiasis (also known as Sleeping Sickness)? ? ### Response:

There are two subspecies of the parasite Trypanosoma brucei that cause disease in humans. The clinical features of the infection depend on the subspecies involved. The two subspecies are found in different regions of Africa. At present, there is no overlap in their geographic distribution. T. b. rhodesiense (East African sleeping sickness) is found in focal areas of eastern and southeastern Africa. Each year a few hundred cases are reported to the World Health Organization. Over 95% of the cases of human infection occur in Tanzania, Uganda, Malawi, and Zambia. Animals are the primary reservoir of infection. Cattle have been implicated in the spread of the disease to new areas and in local outbreaks. A wild animal reservoir is thought to be responsible for sporadic transmission to hunters and visitors to game parks. Infection of international travelers is rare, but it occasionally occurs. In the U.S., one case per year, on average, is diagnosed. Most cases of sleeping sickness imported into the U.S. have been in travelers who were on safari in East Africa. T. b. gambiense (West African sleeping sickness) is found predominantly in central Africa and in limited areas of West Africa. Most of the sleeping sickness in Africa is caused by this form of the parasite. Epidemics of sleeping sickness have been a significant public health problem in the past, but the disease is reasonably well-controlled at present, with 7,000-10,000 cases reported annually in recent years. Over 95% of the cases of human infection are found in Democratic Republic of Congo, Angola, Sudan, Central African Republic, Chad, and northern Uganda. Humans are the important reservoir of infection, although the parasite can sometimes be found in domestic animals (e.g., pigs, dogs, goats). Imported infection in the U.S. is extremely rare, and most cases have occurred in African nationals who have immigrated rather than in returning U.S. travelers. Both forms of sleeping sickness are transmitted by the bite of the tsetse fly (Glossina species). Tsetse flies inhabit rural areas, living in the woodlands and thickets that dot the East African savannah. In central and West Africa, they live in the forests and vegetation along streams. Tsetse flies bite during daylight hours. Both male and female flies can transmit the infection, but even in areas where the disease is endemic, only a very small percentage of flies are infected. Although the vast majority of infections are transmitted by the tsetse fly, other modes of transmission are possible. Occasionally, a pregnant woman can pass the infection to her unborn baby. In theory, the infection can also be transmitted by blood transfusion or sexual contact, but such cases have rarely been documented. This information is not meant to be used for self-diagnosis or as a substitute for consultation with a health care provider. If you have any questions about the parasites described above or think that you may have a parasitic infection, consult a health care provider.

### Question: How to diagnose Retinoblastoma ? ### Response:

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. The doctor will ask if there is a family history of retinoblastoma. - Eye exam with dilated pupil: An exam of the eye in which the pupil is dilated (opened wider) with medicated eye drops to allow the doctor to look through the lens and pupil to the retina. The inside of the eye, including the retina and the optic nerve, is examined with a light. Depending on the age of the child, this exam may be done under anesthesia. There are several types of eye exams that are done with the pupil dilated: - Ophthalmoscopy : An exam of the inside of the back of the eye to check the retina and optic nerve using a small magnifying lens and a light. - Slit-lamp biomicroscopy : An exam of the inside of the eye to check the retina, optic nerve, and other parts of the eye using a strong beam of light and a microscope. - Fluorescein angiography : A procedure to look at blood vessels and the flow of blood inside the eye. An orange fluorescent dye called fluorescein is injected into a blood vessel in the arm and goes into the bloodstream. As the dye travels through blood vessels of the eye, a special camera takes pictures of the retina and choroid to find any blood vessels that are blocked or leaking. - RB1 gene test: A laboratory test in which a sample of blood or tissue is tested for a change in the RB1 gene. - Ultrasound exam of the eye: A procedure in which high-energy sound waves (ultrasound) are bounced off the internal tissues of the eye to make echoes. Eye drops are used to numb the eye and a small probe that sends and receives sound waves is placed gently on the surface of the eye. The echoes make a picture of the inside of the eye and the distance from the cornea to the retina is measured. The picture, called a sonogram, shows on the screen of the ultrasound monitor. The picture can be printed to be looked at later. - 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, such as the eye. This procedure is also called nuclear magnetic resonance imaging (NMRI). - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the eye, 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. Retinoblastoma can usually be diagnosed without a biopsy. When retinoblastoma is in one eye, it sometimes forms in the other eye. Exams of the unaffected eye are done until it is known if the retinoblastoma is the heritable form.

### Question: What causes Alzheimer's Disease ? ### Response:

There are two types of Alzheimers diseaseearly-onset and late-onset. Early-onset Alzheimers is a rare form of the disease that occurs in people age 30 to 60. It occurs in less than 5 percent of all people with Alzheimers. Almost all people with Alzheimers disease have late-onset Alzheimer's, which usually develops after age 60. Causes Not Fully Understood Scientists do not yet fully understand what causes Alzheimer's disease in most people. In early-onset Alzheimers, a genetic mutation is usually the cause. Late-onset Alzheimers arises from a complex series of brain changes that occur over decades. The causes probably include a mix of genetic, environmental, and lifestyle factors. These factors affect each person differently. Research shows that Alzheimers disease causes changes in the brain years and even decades before the first symptoms appear, so even people who seem free of the disease today may be at risk. Scientists are developing sophisticated tests to help identify who is most likely to develop symptoms of Alzheimers. Ultimately, they hope to prevent or delay dementia in these high-risk individuals. Risk Factors Some risk factors for Alzheimers, like age and genetics, cannot be controlled. Other factors that may play a role in the development of the diseasesuch as how much a person exercises or socializescan be changed. Lifestyle factors, such as diet and physical exercise, and long-term health conditions, like high blood pressure and diabetes, might also play a role in the risk of developing Alzheimers disease. For more information, see the chapter entitled Prevention. Older AgeThe Biggest Risk Factor Increasing age is the most important known risk factor for Alzheimer's disease. The number of people with the disease doubles every 5 years beyond age 65. Nearly half of people age 85 and older may have Alzheimers. These facts are significant because the number of older adults is growing. Genetics Genetics appears to play a part in both early- and late-onset Alzheimers disease. In early-onset Alzheimers, most cases are caused by specific genetic mutations permanent changes in genes that can be passed on from a parent to a child. This results in early-onset familial Alzheimers disease, or FAD. Most people with Alzheimers disease have late-onset Alzheimer's, in which symptoms appear in a persons mid-60s. No obvious family pattern is seen in most of these cases, but certain genetic factors appear to increase a persons risk. Many studies have linked the apolipoprotein E gene to late-onset Alzheimers. One form of this gene, APOE 4, increases a persons risk of getting the disease. But many people who get Alzheimers do not have the APOE 4 gene, and some people with the gene never get Alzheimers. Scientists have identified a number of other genes in addition to APOE 4 that may increase a persons risk for late-onset Alzheimers. Knowing about these genes can help researchers more effectively test possible treatments and prevention strategies in people who are at risk of developing Alzheimers -- ideally, before symptoms appear. Learn more about the genetics of Alzheimers disease.

### Question: What are the symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature ? ### Response:

What are the signs and symptoms of Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature. 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 temperature regulation 90% Arthralgia 90% Hepatomegaly 90% Hyperostosis 90% Limitation of joint mobility 90% Lipoatrophy 90% Skin rash 90% Splenomegaly 90% Clubbing of toes 50% Hyperhidrosis 50% Increased antibody level in blood 50% Lymphadenopathy 50% Muscle weakness 50% Skeletal muscle atrophy 50% Abnormal nasal morphology 7.5% Abnormal pyramidal signs 7.5% Abnormality of the tongue 7.5% Arachnodactyly 7.5% Arrhythmia 7.5% Cardiomegaly 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Macrotia 7.5% Microcytic anemia 7.5% Respiratory insufficiency 7.5% Thick lower lip vermilion 7.5% Seizures 5% Short stature 5% Adipose tissue loss - Autosomal recessive inheritance - Basal ganglia calcification - Bone pain - Camptodactyly of finger - Clubbing of fingers - Conjunctivitis - Elbow flexion contracture - Elevated erythrocyte sedimentation rate - Elevated hepatic transaminases - Episcleritis - Erythema - Failure to thrive - Flexion contracture of toe - Hyperpigmentation of the skin - Hypertriglyceridemia - Intellectual disability, mild - Large eyes - Lipodystrophy - Long fingers - Macroglossia - Osteopenia - Panniculitis - Prominent 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 are the symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly ? ### Response:

What are the signs and symptoms of Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Persistence of mullerian derivatives with lymphangiectasia and postaxial polydactyly. 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) Cryptorchidism 90% Hepatic failure 90% Abnormality of the palate 50% Hypocalcemia 50% Long philtrum 50% Low-set, posteriorly rotated ears 50% Polyhydramnios 50% Short neck 50% Thickened nuchal skin fold 50% Underdeveloped supraorbital ridges 50% Abnormality of the intestine 7.5% Adducted thumb 7.5% Anteverted nares 7.5% Epicanthus 7.5% Hernia of the abdominal wall 7.5% Hypoplasia of penis 7.5% Kyphosis 7.5% Prominent metopic ridge 7.5% Renal hypoplasia/aplasia 7.5% Ventriculomegaly 7.5% Abdominal distention - Alveolar ridge overgrowth - Ascites - Autosomal recessive inheritance - Cleft palate - Death in infancy - Flat midface - Flat occiput - Hepatomegaly - High palate - Hydronephrosis - Hypertelorism - Hypertrichosis - Hypoproteinemia - Inguinal hernia - Low-set ears - Lymphedema - Malar flattening - Micropenis - Muscular hypotonia - Narrow chest - Pancreatic lymphangiectasis - Postaxial hand polydactyly - Proptosis - Protein-losing enteropathy - Pulmonary lymphangiectasia - Redundant neck skin - Smooth philtrum - Splenomegaly - Thyroid lymphangiectasia - 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 symptoms of Gollop Coates syndrome ? ### Response:

What are the signs and symptoms of Gollop Coates syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gollop Coates 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) Broad forehead 33% Highly arched eyebrow 33% Long philtrum 33% Sparse eyebrow 33% Aortic regurgitation - Aortic valve stenosis - Arthralgia - Arthropathy - Autosomal dominant inheritance - Autosomal recessive inheritance - Barrel-shaped chest - Bilateral single transverse palmar creases - Brachydactyly syndrome - Camptodactyly of finger - Coronal cleft vertebrae - Cubitus valgus - Decreased hip abduction - Delayed eruption of teeth - Delayed gross motor development - Delayed skeletal maturation - Deviation of the 5th finger - Elbow dislocation - Fixed elbow flexion - Flattened epiphysis - Generalized bone demineralization - Genu valgum - Hearing impairment - High palate - Hypertelorism - Hypoplasia of the capital femoral epiphysis - Hypoplasia of the ulna - Intervertebral space narrowing - Irregular vertebral endplates - Knee dislocation - Kyphoscoliosis - Limited hip extension - Lumbar hyperlordosis - Microdontia - Microtia - Mitral regurgitation - Mitral stenosis - Multiple carpal ossification centers - Narrow vertebral interpedicular distance - Pes planus - Pulmonary hypertension - Pulmonic stenosis - Rhizomelia - Short distal phalanx of finger - Short femoral neck - Short metacarpal - Short neck - Short phalanx of finger - Shoulder dislocation - Small epiphyses - Spondyloepiphyseal dysplasia - Talipes equinovarus - Tibial bowing - Tricuspid regurgitation - Tricuspid stenosis - Ulnar bowing - Ventricular hypertrophy - Ventricular septal defect - Waddling gait - Wide intermamillary distance - 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: What are the treatments for Intestinal Pseudo-obstruction ? ### Response:

A health care provider will treat intestinal pseudo-obstruction with nutritional support, medications, and, in some cases, decompression. Rarely, a person will need surgery. If an illness, a medication, or both cause intestinal pseudo-obstruction, a health care provider will treat the underlying illness, stop the medication, or do both. Nutritional Support People with intestinal pseudo-obstruction often need nutritional support to prevent malnutrition and weight loss. Enteral nutrition provides liquid food through a feeding tube inserted through the nose into the stomach or placed directly into the stomach or small intestine. A health care provider inserts the feeding tube, sometimes using x ray or endoscopy for guidance, and teaches the person how to care for the tube after returning home. Enteral nutrition is sufficient for most people with intestinal pseudo-obstruction. In a severe case, a person may need IV feeding, also called parenteral nutrition, which provides liquid food through a tube placed in a vein. Enteral nutrition is possible because the intestinal lining is normal in most people with intestinal pseudo-obstruction. Enteral nutrition is preferred over parenteral nutrition because it has a much lower risk of complications. Medications A health care provider prescribes medications to treat the different symptoms and complications of intestinal pseudo-obstruction, such as - antibiotics to treat bacterial infections - pain medication, which should be used sparingly, if at all, because most pain medications delay intestinal transit - medication to make intestinal muscles contract - antinausea medications - antidiarrheal medications - laxatives Decompression A person with acute colonic pseudo-obstruction and a greatly enlarged colon who does not respond to medications may need a procedure, called decompression, to remove gas from the colon. A gastroenterologist can perform the procedure in a hospital or an outpatient center. The gastroenterologist may choose to decompress the colon by using colonoscopy. During colonoscopy, the gastroenterologist inserts a flexible tube into the colon through the anus. A health care provider gives the person a light sedative, and possibly pain medication, to relax. If the person requires long-term decompression, the gastroenterologist also can decompress the colon through a surgical opening in the cecum. In this case, the health care provider gives the person local anesthesia. Surgery In severe cases of intestinal pseudo-obstruction, a person may need surgery to remove part of the intestine. However, surgery should be performed rarely, if at all, because intestinal pseudo-obstruction is a generalized disorder that typically affects the entire intestine. Removing part of the intestine cannot cure the disease. A surgeona doctor who specializes in surgerywill perform the surgery at a hospital; a person will need general anesthesia. A few highly specialized treatment centers offer small intestine transplantation. A health care provider may recommend small intestine transplantation when all other treatments have failed.

### Question: What is (are) Aicardi-Goutieres syndrome ? ### Response:

Aicardi-Goutieres syndrome is a disorder that mainly affects the brain, the immune system, and the skin. Most newborns with Aicardi-Goutieres syndrome do not show any signs or symptoms of the disorder at birth. However, about 20 percent are born with a combination of features that include an enlarged liver and spleen (hepatosplenomegaly), elevated blood levels of liver enzymes, a decrease in blood platelets (thrombocytopenia), and abnormal neurological responses. While this combination of signs and symptoms is typically associated with the immune system's response to congenital viral infection, no actual infection is found in these infants. For this reason, Aicardi-Goutieres syndrome is sometimes referred to as a "mimic of congenital infection." Within the first year of life most individuals with Aicardi-Goutieres syndrome experience an episode of severe brain dysfunction (encephalopathy), typically lasting for several months. During this phase of the disorder, affected babies are usually extremely irritable and do not feed well. They may develop intermittent fevers in the absence of infection (sterile pyrexias) and may have seizures. They stop developing new skills and begin losing skills they had already acquired (developmental regression). Growth of the brain and skull slows down, resulting in an abnormally small head size (microcephaly). In this phase of the disorder, white blood cells and molecules associated with inflammation can be detected in the cerebrospinal fluid, which is the fluid that surrounds the brain and spinal cord (central nervous system). These abnormal findings are consistent with inflammation and tissue damage in the central nervous system. The encephalopathic phase of Aicardi-Goutieres syndrome leaves behind permanent neurological damage that is usually severe. Medical imaging reveals deterioration of white matter in the brain (leukodystrophy). White matter consists of nerve fibers covered by myelin, which is a substance that insulates and protects nerves. Affected individuals also have abnormal deposits of calcium (calcification) in the brain. Most people with Aicardi-Goutieres syndrome have profound intellectual disability. They also have significant neuromuscular problems including muscle stiffness (spasticity); involuntary tensing of various muscles (dystonia), especially those in the arms; and weak muscle tone (hypotonia) in the trunk. About 40 percent of people with Aicardi-Goutieres syndrome have painful, itchy skin lesions, usually on the fingers, toes, and ears. These puffy, red lesions, which are called chilblains, are caused by inflammation of small blood vessels. They may be brought on or made worse by exposure to cold. Vision problems, joint stiffness, and mouth ulcers may also occur in this disorder. As a result of the severe neurological problems usually associated with Aicardi-Goutieres syndrome, most people with this disorder do not survive past childhood. However, some affected individuals who have later onset and milder neurological problems may live into adulthood.

### Question: What are the symptoms of Hypoparathyroidism-retardation-dysmorphism syndrome ? ### Response:

What are the signs and symptoms of Hypoparathyroidism-retardation-dysmorphism syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypoparathyroidism-retardation-dysmorphism 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) Cognitive impairment 90% Convex nasal ridge 90% Deeply set eye 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% External ear malformation 90% Frontal bossing 90% High forehead 90% Hyperphosphatemia 90% Hypocalcemia 90% Hypoparathyroidism 90% Intrauterine growth retardation 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Seizures 90% Short foot 90% Short palm 90% Short stature 90% Thin vermilion border 90% Abnormality of dental enamel 50% Recurrent respiratory infections 50% Aplasia/Hypoplasia affecting the eye 7.5% Astigmatism 7.5% Cellular immunodeficiency 7.5% Cryptorchidism 7.5% Hypoplasia of penis 7.5% Increased bone mineral density 7.5% Intestinal obstruction 7.5% Myopathy 7.5% Opacification of the corneal stroma 7.5% Spinal canal stenosis 7.5% Ventriculomegaly 7.5% Autosomal recessive inheritance - Bifid uvula - Congenital hypoparathyroidism - Hypocalcemic seizures - Intellectual disability - Low-set ears - Micropenis - Patchy osteosclerosis - Posteriorly rotated ears - Postnatal growth retardation - Prominent forehead - Recurrent bacterial infections - Severe intrauterine growth retardation - Small hand - Tetany - 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 Parasites - Baylisascaris infection? ? ### Response:

Raccoons are the primary, or definitive, host of Baylisascaris procyonis, a roundworm. Raccoons become infected with Baylisascaris in one of two ways: - Young raccoons become infected by eating eggs during foraging, feeding, and grooming. - Adult raccoons acquire the infection by eating rodents, rabbits, and birds infected with the larvae of Baylisascaris. Infected raccoons have been found throughout the United States, mainly in the Midwest, Northeast, Middle Atlantic, and West Coast. Raccoons are peridomestic animals, which means they live in or around areas where people live. Roundworm eggs are passed in the feces of infected raccoons. Raccoons defecate in communal sites, called latrines. Raccoon latrines are often found at bases of trees, unsealed attics, or on flat surfaces such as logs, tree stumps, rocks, decks, and rooftops. As more raccoons move into populated areas, the number and density of their latrines will increase. While raccoons are the roundworm's primary host, other types of animals can become infected. Birds and small mammals, such as rodents and rabbits, are susceptible to the parasite. Unlike raccoons, these animals sometimes show signs of infection, such as muscle spasms, tremors, and progressive weakness; infection can lead to death. Predator animals, including dogs, may become infected by eating an animal that has been infected with Baylisascaris. In some dogs, Baylisascaris may develop to adult worms and pass eggs in the dogs' feces. The worms develop to maturity in the raccoon intestine, where they produce millions of eggs that are passed in the feces. Eggs that are excreted by raccoons are not immediately infectious. These eggs must develop in the environment for 2 to 4 weeks, after which the eggs are able to cause infection. The eggs are resistant to most environmental conditions and with adequate moisture, can survive for years. Humans become infected by ingesting embryonated (fertile) eggs. Anyone who is exposed to environments where raccoons frequent is potentially at risk. Young children or developmentally disabled persons are at highest risk for infection as they may be more likely to put contaminated fingers, soil, or objects into their mouths. Hunters, trappers, taxidermists, and wildlife handlers may also be at increased risk if they have contact with raccoons or raccoon habitats. Fewer than 25 cases of Baylisascaris disease have been documented in the United States. However, it is possible that some cases are incorrectly diagnosed as other infections or go undiagnosed. Cases that are diagnosed tend to be severe. Cases have been reported in California, Illinois, Louisiana, Massachusetts, Michigan, Minnesota, Missouri, New York, Oregon, and Pennsylvania. As of 2012, there were 16 published human neurological cases in the US; six of the infected persons died.

### Question: What are the symptoms of Type 1 plasminogen deficiency ? ### Response:

What are the signs and symptoms of Type 1 plasminogen deficiency? Type 1 plasminogen deficiency causes reduced levels of functional plasminogen. The rare inflammatory disease mainly affects the mucous membrances in different body sites. Although the symptoms and their severity may vary from person to person, the most common clinical manifestation is ligneous conjunctivitis, characterized by development of fibrin-rich, woodlike ('ligneous') pseudomembranous lesions. Involvement of the cornea may result in blindness. Other, less common manifestations are ligenous gingivitis, otitis media, ligneous bronchitis and pneumonia, involvement of the gastrointestinal or female genital tract, juvenile colloid milium of the skin (condition in which clear papules develop on sun-exposed areas of the skin), and congenital hydrocephalus. Although the condition is known to cause thrombotic events in mice, no reports of venous thrombosis in humans with the condition have been documented.[826] The Human Phenotype Ontology provides the following list of signs and symptoms for Type 1 plasminogen 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 eye 90% Abnormality of the oral cavity 50% Abnormality of the intestine 7.5% Abnormality of the middle ear 7.5% Abnormality of the respiratory system 7.5% Dandy-Walker malformation 7.5% Hydrocephalus 7.5% Nephrolithiasis 7.5% Polycystic ovaries 7.5% Nephritis 5% Abnormality of metabolism/homeostasis - Abnormality of the cardiovascular system - Abnormality of the ear - Abnormality of the larynx - Abnormality of the skin - Autosomal recessive inheritance - Blindness - Cerebellar hypoplasia - Conjunctivitis - Duodenal ulcer - Gingival overgrowth - Gingivitis - Infantile onset - Macrocephaly - Periodontitis - Recurrent upper respiratory tract infections - 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 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ? ### Response:

What are the signs and symptoms of Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. 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 adipose tissue 90% Abnormality of epiphysis morphology 90% Arthralgia 90% Behavioral abnormality 90% Bone cyst 90% Bone pain 90% Cerebral cortical atrophy 90% Developmental regression 90% Limitation of joint mobility 90% Memory impairment 90% Reduced bone mineral density 90% Skeletal dysplasia 90% Ventriculomegaly 90% Agnosia 50% Cerebral calcification 50% Chorea 50% Hypertonia 50% Neurological speech impairment 50% Oculomotor apraxia 50% Seizures 50% Abnormality of the abdominal organs 7.5% Acute leukemia 7.5% Hydrocephalus 7.5% Abnormal upper motor neuron morphology - Abnormality of the foot - Abnormality of the hand - Aggressive behavior - Apraxia - Autosomal recessive inheritance - Axonal loss - Babinski sign - Basal ganglia calcification - Caudate atrophy - Cerebral atrophy - Disinhibition - EEG abnormality - Frontal lobe dementia - Gait disturbance - Gliosis - Hypoplasia of the corpus callosum - Lack of insight - Leukoencephalopathy - Myoclonus - Pathologic fracture - Peripheral demyelination - Personality changes - Primitive reflexes (palmomental, snout, glabellar) - Spasticity - Urinary incontinence - 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 to do for Polycystic Kidney Disease ? ### Response:

A dietitian specializes in helping people who have kidney disease choose the right foods and plan healthy meals. People with any kind of kidney disease, including PKD, should talk with a dietitian about foods that should be added to their diet and foods that might be harmful. PKD may require diet changes for blood pressure control. Kidney disease in general also calls for certain diet changes. Following a healthy eating plan can help lower blood pressure. A health care provider may recommend the Dietary Approaches to Stop Hypertension (DASH) eating plan, which focuses on fruits, vegetables, whole grains, and other foods that are heart healthy and lower in sodium, which often comes from salt. The DASH eating plan - is low in fat and cholesterol - features fat-free or low-fat milk and dairy products, fish, poultry, and nuts - suggests less red meat, sweets, added sugars, and sugar-containing beverages - is rich in nutrients, protein, and fiber More information about the DASH eating planis available from the National Heart, Lung, and Blood Institute. As your kidneys become more damaged, you may need to eat foods that are lower in phosphorus and potassium. The health care provider will use lab tests to watch your levels. Foods high in potassium include - bananas - oranges - potatoes - tomatoes Lower-potassium foods include - apples - peaches - carrots - green beans Foods higher in phosphorus include - large portions of meat, fish and dairy foods - bran cereals and oatmeal - beans and nuts - colas Lower-phosphorus alternatives include - fresh fruits and vegetables - breads - pasta - rice - corn and rice cereals - light-colored sodas People with kidney disease and high blood pressure should also limit how much sodium they get to 2,300 mg or less each day.5 People with CKD may need to watch how much protein they eat. Everyone needs protein. However, protein breaks down into wastes the kidneys must remove. Large amounts of protein make the kidneys work harder. High-quality proteins such as meat, fish, and eggs create fewer wastes than other sources of protein. Beans, whole grains, soy products, nuts and nut butters, and dairy products can also be good sources of protein. Most people eat more protein than they need. Eating high-quality protein and smaller portions of protein can help protect the kidneys. More information about nutrition for kidney disease is provided in the NIDDK health topics: - Nutrition for Children with Chronic Kidney Disease - Nutrition for Adults with Early Chronic Kidney Disease - Nutrition for Adults with Advanced Chronic Kidney Disease The National Kidney Disease Education Program offers a series of easy-to-read fact sheets about nutrition for people with CKD.