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What is (are) Waardenburg syndrome ?

Waardenburg syndrome (WS) is a group of genetic conditions characterized by varying degrees of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, and skin. Signs and symptoms can vary both within and between families. Common features include congenital sensorineural deafness; pale blue eyes, different colored eyes, or two colors within one eye; a white forelock (hair just above the forehead); or early graying of scalp hair before age 30. Various other features may also be present. WS is classified into 4 subtypes (types 1, 2, 3 and 4) based on whether certain features are present and the genetic cause. Mutations in at least 6 different genes are known to cause WS, and it may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner. Treatment depends on the specific symptoms present.

What are the symptoms of Waardenburg syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Waardenburg syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Conductive hearing impairment 90% Hearing impairment 90% Heterochromia iridis 90% Hypopigmented skin patches 90% Lacrimation abnormality 90% Mandibular prognathia 90% Premature graying of hair 90% Prominent nasal bridge 90% Short nose 90% Synophrys 90% Telecanthus 90% White forelock 90% Tented upper lip vermilion 50% Underdeveloped nasal alae 50% Wide nasal bridge 50% Abnormality of the vagina 7. 5% Aganglionic megacolon 7. 5% Aplasia/Hypoplasia of the colon 7. 5% Cleft palate 7. 5% Cleft upper lip 7. 5% Intestinal obstruction 7. 5% Meningocele 7. 5% Myelomeningocele 7. 5% Oral cleft 7. 5% Ptosis 7. 5% Scoliosis 7. 5% Sprengel anomaly 7. 5% Strabismus 7. 5% Aplasia of the vagina - Autosomal dominant inheritance - Blepharophimosis - Congenital sensorineural hearing impairment - Hypertelorism - Hypopigmentation of the fundus - Hypoplastic iris stroma - Partial albinism - Smooth philtrum - Supernumerary ribs - Supernumerary vertebrae - Thick eyebrow - White eyebrow - White eyelashes - 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.

How to diagnose Waardenburg syndrome ?

A diagnosis of Waardenburg syndrome (WS) is made based on signs and symptoms present. In 1992, the Waardenburg Consortium proposed diagnostic criteria, which includes both major and minor criteria. A clinical diagnosis of WS type 1 (the most common type) needs 2 major, or 1 major and 2 minor criteria. Major criteria: Congenital sensorineural hearing loss Iris pigmentary (coloration) abnormality, such as heterochromia iridis (complete, partial, or segmental); pale blue eyes (isohypochromia iridis); or pigmentary abnormalities of the fundus (part of the eye opposite the pupil) Abnormalities of hair pigmentation, such as white forelock (lock of hair above the forehead), or loss of hair color Dystopia canthorum lateral displacement of inner angles (canthi) of the eyes (in WS types 1 and 3 only) Having a 1st degree relative with Waardenburg syndrome Minor criteria: Congenital leukoderma (hypopigmented patches of skin) Synophrys (connected eyebrows or unibrow) or medial eyebrow flare Broad or high nasal bridge (uppermost part of the nose) Hypoplasia of the nostrils Premature gray hair (under age 30) WS type 2 has similar features to WS type 1, but the inner canthi are normal (no dystopia cantorum present). WS type 3 also has similar features to WS type 1, but is additionally characterized by musculoskeletal abnormalities such as muscle hypoplasia (underdevelopment); flexion contractures (inability to straighten joints); or syndactyly (webbed or fused fingers or toes). WS type 4 has similar features to WS type 2, but with Hirschsprung disease (a condition resulting from missing nerve cells in the muscles of part or all of the large intestine).

What are the symptoms of Alpha-ketoglutarate dehydrogenase deficiency ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Alpha-ketoglutarate dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Hypertonia 90% Incoordination 90% Short stature 90% Skeletal muscle atrophy 90% Abnormality of movement 50% Abnormality of the salivary glands 50% Hydrocephalus 50% Autosomal recessive inheritance - Congenital lactic acidosis - Death in childhood - Increased serum lactate - Metabolic acidosis - Muscular hypotonia - 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.

What are the symptoms of Miles-Carpenter x-linked mental retardation syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Miles-Carpenter x-linked mental retardation 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 dermatoglyphics 90% Strabismus 90% Abnormality of the genital system 50% Cognitive impairment 50% Decreased body weight 50% Facial asymmetry 50% Joint hypermobility 50% Microcornea 50% Talipes 50% Abnormality of the skin - Congenital contracture - Distal amyotrophy - Exotropia - Intellectual disability - Microcephaly - X-linked 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.

What is (are) Familial hyperinsulinism ?

Familial hyperinsulinism is an inherited condition that causes individuals to have abnormally high levels of insulin, which leads to frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, and/or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as seizures, intellectual disability, breathing difficulties, and/or coma. Unlike typical episodes of hypoglycemia, which occur after periods without food (fasting), episodes of hypoglycemia in people with familial hyperinsulinism can also occur after eating or exercising. Mutations in at least seven genes have been found to cause this condition. It is often inherited in an autosomal recessive pattern or less commonly, an autosomal dominant pattern.

What are the symptoms of Familial hyperinsulinism ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperinsulinism. 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 pancreas 90% Hyperinsulinemia 90% Hypoglycemia 90% Autosomal dominant inheritance - Autosomal recessive inheritance - Heterogeneous - Hyperinsulinemic hypoglycemia - Hypoglycemic coma - Hypoglycemic seizures - Intellectual disability - Large for gestational age - Pancreatic islet-cell 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.

What are the symptoms of Dykes Markes Harper syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Dykes Markes Harper 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) Developmental regression 90% Gait disturbance 90% Hepatomegaly 90% Ichthyosis 90% Incoordination 90% Neurological speech impairment 90% Splenomegaly 90% Ataxia - Autosomal recessive inheritance - Dysarthria - Hepatosplenomegaly - 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.

What are the symptoms of Urocanase deficiency ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Urocanase 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) Nystagmus 5% Aggressive behavior - Ataxia - Autosomal recessive inheritance - Blue irides - Fair hair - Intellectual disability, progressive - Intellectual disability, severe - Short stature - Tremor - Urocanic aciduria - 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.

What is (are) Hyper-IgD syndrome ?

Hyper IgD syndrome is an inflammatory genetic disorder characterized by periodic episodes of fever associated with additional symptoms including joint pain, skin rash and abdominal pain. Most episodes last several days and occur periodically throughout life. The frequency of episodes and their severity vary greatly from case to case. Hyper IgD syndrome is caused by mutations in the gene encoding mevalonate kinase (MVK). It is inherited in an autosomal recessive manner.

What are the symptoms of Hyper-IgD syndrome ?

Hyper IgD syndrome is characterized by periodic high fevers accompanied by lymphadenopathy, abdominal pain, diarrhea, headache, joint pain, hepatomegaly and/or splenomegaly, and skin lesions. Most episodes last several days and occur periodically throughout life. The frequency of episodes and their severity vary greatly from case to case. The first attack usually takes place during infancy. Patients may have no symptoms between attacks. However, in some patients, the attacks may be so frequent that the symptoms persist. The Human Phenotype Ontology provides the following list of signs and symptoms for Hyper-IgD 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) Abdominal pain 90% Abnormality of temperature regulation 90% Arthralgia 90% Gastrointestinal hemorrhage 90% Hepatomegaly 90% Lymphadenopathy 90% Myalgia 90% Abnormality of the oral cavity 50% Arthritis 50% Diarrhea 50% Migraine 50% Urticaria 50% Vasculitis 50% Abnormal immunoglobulin level 7. 5% Acrocyanosis 7. 5% Cognitive impairment 7. 5% Incoordination 7. 5% Intestinal obstruction 7. 5% Limitation of joint mobility 7. 5% Peritonitis 7. 5% Seizures 7. 5% Subcutaneous hemorrhage 7. 5% Rod-cone dystrophy 5% Autosomal recessive inheritance - Elevated erythrocyte sedimentation rate - Headache - Hypermelanotic macule - Increased IgA level - Leukocytosis - Nyctalopia - Optic disc pallor - Skin rash - Splenomegaly - Vertigo - Vomiting - 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.

What causes Hyper-IgD syndrome ?

Hyper IgD syndrome is caused by mutations in the gene encoding the enzyme mevalonate kinase (MVK). The mutations lead to a decrease in the enzymatic activity of the gene. The gene is located at chromosome 12q24.

Is Hyper-IgD syndrome inherited ?

Hyper IgD syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. About one half of patients have a positive family history.

What are the treatments for Hyper-IgD syndrome ?

There is no cure for hyper IgD syndrome and currently no established treatment. Management is focused on supportive care. Some patients have responded to high-dose prednisone. Simvastatin, Anakinria (an IL-1 receptor antagonist) and TNF inhibitors have recently shown some success in controlling inflammatory attacks. Consultations with the following specialists may be helpful: dermatologist, rheumatologist, and infectious disease specialist (to evaluate periodic fever).

What is (are) Iridocorneal endothelial syndrome ?

Iridocorneal endothelial (ICE) syndrome describes a group of eye diseases that are characterized by three main features: Visible changes in the iris (the colored part of the eye that regulates the amount of light entering the eye) Swelling of the cornea, and The development of glaucoma (a disease that can cause severe vision loss when normal fluid inside the eye cannot drain properly) ICE syndrome, is more common in women than men, most commonly diagnosed in middle age, and is usually present in only one eye. The condition is actually a grouping of three closely linked conditions: Cogan-Reese syndrome; Chandlers syndrome; and essential (progressive) iris atrophy. The cause of ICE syndrome is unknown, however there is a theory that it is triggered by a virus that leads to swelling of the cornea. While there is no way to stop the progression of the condition, treatment of the symptoms may include medication for glaucoma and corneal transplant for corneal swelling.

What are the symptoms of Iridocorneal endothelial syndrome ?

The most common feature of ICE syndrome is the movement of endothelial cells off the cornea onto the iris. This loss of cells from the cornea often leads to swelling of the cornea, distortion of the iris, and variable degrees of distortion of the pupil (the adjustable opening at the center of the iris that allows varying amounts of light to enter the eye). This cell movement also plugs the fluid outflow channels of the eye, causing glaucoma.

What causes Iridocorneal endothelial syndrome ?

The cause of this disease is unknown. However, it has been theorized that a viral infection, such as Herpes simplex virus (HSV) or Epstein-Barr virus (EBV) may be the trigger that causes the cornea to swell.

What are the treatments for Iridocorneal endothelial syndrome ?

It is not possible to halt the progression of ICE syndrome. Treatment is usually focused on managing the glaucoma associated with the disease, either through medication or possible surgery, to help reduce pressure in the eye. Medication and corneal transplant can also be used to treat corneal swelling.

What are the 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.

What are the symptoms of Camptodactyly syndrome Guadalajara type 1 ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly syndrome Guadalajara 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) Abnormal form of the vertebral bodies 90% Aplasia/Hypoplasia of the earlobes 90% Camptodactyly of finger 90% Dental malocclusion 90% Malar flattening 90% Pectus carinatum 90% Pectus excavatum 90% Telecanthus 90% Abnormality of calvarial morphology 50% Abnormality of the palate 50% Anteverted nares 50% Brachydactyly syndrome 50% Cognitive impairment 50% Cubitus valgus 50% Delayed skeletal maturation 50% Depressed nasal bridge 50% Downturned corners of mouth 50% Epicanthus 50% Hallux valgus 50% Intrauterine growth retardation 50% Mandibular prognathia 50% Melanocytic nevus 50% Microcephaly 50% Microcornea 50% Narrow chest 50% Narrow face 50% Narrow mouth 50% Seizures 50% Short nose 50% Short stature 50% Short toe 50% Spina bifida 50% Sprengel anomaly 50% Toe syndactyly 50% Underdeveloped supraorbital ridges 50% Blepharophimosis 7. 5% Highly arched eyebrow 7. 5% Long face 7. 5% Low-set, posteriorly rotated ears 7. 5% Sacral dimple 7. 5% Short distal phalanx of finger 7. 5% Synophrys 7. 5% Abnormality of dental eruption - Absent ethmoidal sinuses - Absent frontal sinuses - Autosomal recessive inheritance - Bifid uvula - Brachycephaly - Camptodactyly of 2nd-5th fingers - Fibular hypoplasia - Flat face - High palate - Horizontal sacrum - Hypertelorism - Hypoplasia of midface - Hypoplastic 5th lumbar vertebrae - Hypoplastic iliac wing - Intellectual disability - Long neck - Low-set ears - Lumbar hyperlordosis - Microtia - Overfolding of the superior helices - Posteriorly rotated ears - Scapular winging - Short femoral neck - Short foot - Short metatarsal - Short palm - Short palpebral fissure - Small earlobe - Spina bifida occulta - Tubular metacarpal bones - Twelfth rib hypoplasia - Upslanted palpebral fissure - Wormian bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Hepatocellular carcinoma, childhood ?

Hepatocellular carcinoma, childhood is a rare type of cancer of the liver that affects children. Symptoms may include a mass in the abdomen, swollen abdomen, abdominal pain, weight loss, poor appetite, jaundice, vomiting, fever, itchy skin, anemia, and back pain. Treatment options may vary depending on a variety of factors including the stage of the cancer.

What are the symptoms of Hepatocellular carcinoma, childhood ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatocellular carcinoma, childhood. 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) Autosomal dominant inheritance - Hepatocellular carcinoma - Micronodular cirrhosis - Somatic mutation - Subacute progressive viral hepatitis - 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.

What causes Hepatocellular carcinoma, childhood ?

A review of the literature suggests that knowledge regarding the cause of hepatocellular carcinoma in children is lacking due to the rarity of this disease. Children living in regions of the world where heptatitis B virus is common have been reported to have a much greater risk of developing this disease. Chronic infection by hepatitis C virus has also been linked to the development of hepatocellular carcinoma. Hepatocellular carcinoma has also been reported to develop in the presence of liver disease, cirrhosis, and inborn errors of metabolism. In addition, various other reported risk factors for developing hepatocellular carcinoma include: male sex, co-infection with other viral liver disease, co-infection with HIV, alcohol abuse, family history of this carcinoma, increased hepatic iron, increased serum alanine aminotransferase levels, exposure to aflatoxin B1 by food contamination, genetic variants of glutathione S-transferase, and various metabolic liver disorders. Chronic Epstein Barr virus infections have also been suggested to play a role in the development of hepatocellular carcinoma in Asian patients. This association remains to be confirmed in other populations.

What is (are) Usher syndrome, type 2C ?

Usher syndrome is a genetic condition characterized by hearing loss or deafness, and progressive vision loss due to retinitis pigmentosa. Three major types of Usher syndrome have been described - types I, II, and III. The different types are distinguished by their severity and the age when signs and symptoms appear. All three types are inherited in an autosomal recessive manner, which means both copies of the disease-causing gene in each cell have mutations.

What are the symptoms of Usher syndrome, type 2C ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 2C. 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) Autosomal recessive inheritance - Congenital sensorineural hearing impairment - Rod-cone dystrophy - 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.

Is Usher syndrome, type 2C inherited ?

Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.

What is (are) Mosaic trisomy 8 ?

Mosaic trisomy 8 is a chromosome disorder defined by the presence of three copies of chromosome 8 in some cells of the body. It is characterized by distinctive facial features; mild intellectual disability; and joint, kidney, cardiac, and skeletal abnormalities. Males are more frequently affected than females. In the absence of serious problems, life expectancy is normal. Complete trisomy 8 is lethal and often results in miscarriage during the first trimester. Mosaic trisomy 8 is the result of a random error in the egg or sperm. Diagnosis is based on karyotype analysis. Mosaic trisomy 8 almost always occurs in individuals with no family history of the condition.

What are the symptoms of Mosaic trisomy 8 ?

The facial features are usually mild and can include elongation of the skull (scaphocephaly), prominent forehead, widely-spaced eyes, deeply set eyes, broad upturned nose, micrognathia, and ear abnormalities. Additional features can include: agenesis of the corpus callosum, highly arched or cleft palate, short and large neck, high stature, elongated thin trunk, and narrow shoulders and pelvis. Kidney and cardiac abnormalities are frequent. Camptodactyly, stiff joints, absent malformed kneecap, vertebral malformations such as scoliosis, as well as eye abnormalities also commonly observed. Most affected individuals have moderate intellectual disabilities (IQ between 50 and 75), with some people having a normal intelligence. There is no correlation between the percentage of trisomic cells and the severity of the intellectual deficit. Mosaic trisomy 8 also seems to predispose to Wilms tumors, myelodysplasias, and myeloid leukemia. The Human Phenotype Ontology provides the following list of signs and symptoms for Mosaic trisomy 8. 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% Abnormality of pelvic girdle bone morphology 50% Abnormality of the antihelix 50% Abnormality of the ribs 50% Abnormality of the shoulder 50% Anteverted nares 50% Camptodactyly of finger 50% Deep palmar crease 50% Deep plantar creases 50% Deeply set eye 50% Dolichocephaly 50% Frontal bossing 50% Hypertelorism 50% Large earlobe 50% Limitation of joint mobility 50% Long face 50% Low-set, posteriorly rotated ears 50% Narrow chest 50% Opacification of the corneal stroma 50% Patellar aplasia 50% Scoliosis 50% Strabismus 50% Vertebral segmentation defect 50% Vesicoureteral reflux 50% Aplasia/Hypoplasia of the corpus callosum 7. 5% Cleft palate 7. 5% Cryptorchidism 7. 5% Deviation of finger 7. 5% Hearing impairment 7. 5% Hypopigmented skin patches 7. 5% Irregular hyperpigmentation 7. 5% Short neck 7. 5% Short stature 7. 5% Tall stature 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.

What is (are) Hypophosphatasia ?

Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that dont begin until adulthood. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones; short limbs; other skeletal abnormalities; and hypercalcemia. Complications can be life-threatening. The mildest form of the condition, called odontohypophosphatasia, only affects the teeth. HPP is caused by mutations in the ALPL gene. Perinatal (onset before birth) and infantile HPP are inherited in an autosomal recessive manner. The milder forms, especially adult forms and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner. While treatment has always been symptomatic and supportive, recently an enzyme replacement therapy (ERT) called asfotase alfa has been show to improve bone manifestations people with childhood onset HPP and has been approved by the FDA.

What are the symptoms of Hypophosphatasia ?

The signs and symptoms of hypophosphatasia vary widely and can appear anywhere from before birth to adulthood. The most severe forms of the disorder tend to occur before birth and in early infancy. Hypophosphatasia weakens and softens the bones, causing skeletal abnormalities similar to another childhood bone disorder called rickets. Affected infants are born with short limbs, an abnormally shaped chest, and soft skull bones. Additional complications in infancy include poor feeding and a failure to gain weight, respiratory problems, and high levels of calcium in the blood (hypercalcemia), which can lead to recurrent vomiting and kidney problems. These complications are life-threatening in some cases. The forms of hypophosphatasia that appear in childhood or adulthood are typically less severe than those that appear in infancy. Early loss of primary (baby) teeth is one of the first signs of the condition in children. Affected children may have short stature with bowed legs or knock knees, enlarged wrist and ankle joints, and an abnormal skull shape. Adult forms of hypophosphatasia are characterized by a softening of the bones known as osteomalacia. In adults, recurrent fractures in the foot and thigh bones can lead to chronic pain. Affected adults may lose their secondary (adult) teeth prematurely and are at increased risk for joint pain and inflammation. The mildest form of this condition, called odontohypophosphatasia, only affects the teeth. People with this disorder typically experience abnormal tooth development and premature tooth loss, but do not have the skeletal abnormalities seen in other forms of hypophosphatasia. The Human Phenotype Ontology provides the following list of signs and symptoms for Hypophosphatasia. 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 metaphyses 90% Abnormality of the ribs 90% Abnormality of the teeth 90% Bowing of the long bones 90% Craniosynostosis 90% Emphysema 90% Narrow chest 90% Sacrococcygeal pilonidal abnormality 90% Short stature 90% Anemia 50% Behavioral abnormality 50% Hypercalcemia 50% Muscular hypotonia 50% Recurrent fractures 50% Respiratory insufficiency 50% Seizures 50% 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.

What causes Hypophosphatasia ?

Hypophosphatasia (HPP) is a genetic condition caused by mutations in the ALPL gene. This gene gives the body instructions to make an enzyme called alkaline phosphatase, which is needed for mineralization of the bones and teeth. Mutations in this gene lead to an abnormal version of the enzyme, thus affecting the mineralization process. A shortage of the enzyme also causes other substances to build up in the body. These abnormalities lead to the features of HPP. ALPL mutations that almost completely eliminate alkaline phosphatase activity generally cause the more severe forms of HPP, while mutations that reduce activity to a lesser extent often cause the milder forms of HPP.

Is Hypophosphatasia inherited ?

Perinatal (onset before birth) and infantile hypophosphatasia (HPP) are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene (ALPL) in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier. The milder forms, especially adult HPP and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner - depending on the effect the ALPL mutation has on enzyme activity. In autosomal dominant inheritance, having a mutation in only one copy of the ALPL gene in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant HPP has children, each child has a 50% (1 in 2) chance to inherit that mutation. Most people with autosomal dominant HPP have inherited the mutation from a parent who may or may not have symptoms. Not all people with a mutation that causes autosomal dominant HPP develop symptoms of the condition. While it is possible to have autosomal dominant HPP due to a new mutation that was not inherited (a de novo mutation), this has never been reported in HPP.

What are the treatments for Hypophosphatasia ?

Until recently, management of hypophosphatasia (HPP) has mostly been aimed at addressing symptoms of the condition. For example: Hydration, restriction of dietary calcium, vitamin D, and sometimes thiazide diuretics for hypercalcemia Ventilatory support for severely affected infants, some of which need a tracheostomy, which can lead to problems with speech and language development and tolerance of oral feeds Physiotherapy, occupational therapy and chronic pain management for pain and motor difficulty Surgery for fractures that fail to heal More recently, research has shown positive effects of human recombinant enzyme replacement therapy (ERT), called asfotase alfa, on people who began having symptoms before 6 months of age. There reportedly have been significant improvements in the X-ray appearances of bone tissue, along with improvements in growth, respiratory function, motor development and calcium homeostasis after 612 months of treatment. The children in the original study have now received more than three years of treatment, without apparent major side effects, and with continuing improvement in affected systems. Asfotase alfa appears to be a valuable emerging therapy for the treatment of bone manifestations in people with pediatric-onset HPP. In October of 2015 the FDA approved asfotase alfa, sold as Strensiq. Bone marrow and stem cell transplantation in infancy and childhood have improved the severity of the disease, but have not provided long term improvement.

What are the symptoms of Charcot-Marie-Tooth disease type 2H ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2H. 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) Absent Achilles reflex - Autosomal recessive inheritance - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal sensory impairment - Foot dorsiflexor weakness - Hyperactive patellar reflex - Hyperreflexia in upper limbs - Juvenile onset - Pes cavus - Steppage gait - 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.

What are the symptoms of N syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for N 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 chromosome stability 90% Acute leukemia 90% Cognitive impairment 90% Cryptorchidism 90% Displacement of the external urethral meatus 90% Hypertonia 90% Megalocornea 90% Sensorineural hearing impairment 90% Visual impairment 90% Hearing impairment - Hypospadias - Intellectual disability - Neoplasm - Spasticity - X-linked 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.

What are the symptoms of Ehlers-Danlos syndrome, periodontitis type ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Ehlers-Danlos syndrome, periodontitis type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of skin pigmentation 90% Atypical scarring of skin 90% Gingival overgrowth 90% Short stature 90% Hyperextensible skin 50% Hyperkeratosis 50% Joint hypermobility 50% Periodontitis 50% Premature loss of primary teeth 7. 5% Autosomal dominant inheritance - Blue sclerae - Bruising susceptibility - Joint laxity - Palmoplantar cutis laxa - Poor wound healing - Premature loss of teeth - Thin skin - 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.

What is (are) Eales disease ?

Eales disease is a rare vision disorder that appears as an inflammation and white haze around the outercoat of the veins in the retina. This condition is most common among young males and normally affects both eyes. In most cases, vision becomes suddenly blurred because the vitreous, the clear jelly that fills the eyeball behind the lens of the eye, seeps out. Treatment includes corticosteroids in the inflammation stage and photocoagulation in the proliferative stage of the disease. Visual prognosis is good if treatment begins early in the course of the disease.

What are the treatments for Eales disease ?

Depending on the disease stage, treatment may involve corticosteroids (systemic or periocular) and/or immunosuppressants (azathioprine, cyclosporine). Anti-tubercular therapy has been recommended by some authors, however this treatment remains controversial. Bevacizumab (Avastin), a monoclonal antibody, is sometimes used via intravitreal injection. This medication appears to induce regression of neovascularization. Laser photocoagulation has become the treatment of choice in patients in the proliferative stage of Eales disease. Vitreoretinal surgery may be required if recurrent vitreous hemorrhage occurs. There may be other treatment options (for example, antioxidant vitamins A, C, and E) for Eales disease as well. We recommend that you discuss these and other treatment options with your partners health-care providers. You can find relevant articles on the treatment of Eales disease through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publishers Web site. Using Eales disease AND treatment as your search term should help you locate articles. Use the advanced search feature to narrow your search results. Click here to view a search. http://www. ncbi. nlm. nih. gov/PubMed The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm. gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.

What are the symptoms of Joubert syndrome 2 ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal renal physiology - Abnormality of saccadic eye movements - Abnormality of the corpus callosum - Abnormality of the foot - Agenesis of cerebellar vermis - Ataxia - Autosomal recessive inheritance - Brainstem dysplasia - Central apnea - Chorioretinal coloboma - Depressed nasal bridge - Dolichocephaly - Dysgenesis of the cerebellar vermis - Elongated superior cerebellar peduncle - Encephalocele - Enlarged fossa interpeduncularis - Episodic tachypnea - Esotropia - Failure to thrive - Frontal bossing - Heterogeneous - High palate - Hydrocephalus - Hypertelorism - Hypoplasia of the brainstem - Hypoplastic male external genitalia - Impaired smooth pursuit - Intellectual disability - Low-set ears - Macrocephaly - Microphthalmia - Molar tooth sign on MRI - Muscular hypotonia - Neonatal breathing dysregulation - Nephronophthisis - Nystagmus - Oculomotor apraxia - Optic nerve coloboma - Phenotypic variability - Postaxial hand polydactyly - Renal cyst - Retinal dystrophy - Thickened superior cerebellar peduncle - Visual impairment - 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.

What is (are) Febrile infection-related epilepsy syndrome ?

Febrile infection-related epilepsy syndrome (FIRES) is a severe brain disorder that develops in children after a fever. This condition results in sudden seizures and leads to declines in memory and intellectual ability. FIRES can also cause psychiatric disorders or problems with motor skills. The cause of FIRES is unknown, but may be related to infection, genetic susceptibility, an autoimmune disorder, or a problem with metabolism. Treatment involves antiepileptic medications to manage seizures, but they do not usually work well.

What are the symptoms of Febrile infection-related epilepsy syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Febrile infection-related epilepsy 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) Developmental regression 90% EEG abnormality 90% Reduced consciousness/confusion 90% Seizures 90% Abnormality of temperature regulation 50% Behavioral abnormality 50% Migraine 50% Myalgia 50% Sinusitis 50% Autoimmunity 7. 5% Sudden cardiac death 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.

What is (are) Permanent neonatal diabetes mellitus ?

Permanent neonatal diabetes mellitus (PNDB) is a type of diabetes that appears within the first 6 months of life and persists throughout life. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Some individuals also have neurological problems including developmental delay and epilepsy; when these problems are present with PNDB, it is called DEND syndrome. A few individuals with PNDB also have an underdeveloped pancreas and may have digestive problems. PNDB is caused by mutations in any one of several genes (some of which have not yet been identified) including the KCNJ11, ABCC8, and INS genes. It may be inherited in an autosomal recessive or autosomal dominant manner. Treatment includes rehydration, insulin therapy and/or long-term therapy with oral sulfonylureas (in some cases).

What are the symptoms of Permanent neonatal diabetes mellitus ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Permanent neonatal diabetes mellitus. 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 ear - Abnormality of the immune system - Anteverted nares - Autosomal dominant inheritance - Beta-cell dysfunction - Clinodactyly - Diabetes mellitus - Downturned corners of mouth - Hyperglycemia - Hypsarrhythmia - Intrauterine growth retardation - Ketoacidosis - Limb joint contracture - Long philtrum - Motor delay - Muscle weakness - Muscular hypotonia of the trunk - Peripheral neuropathy - Prominent metopic ridge - Ptosis - Radial deviation of finger - Seizures - Small for gestational age - 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.

What is (are) Spondylocostal dysostosis 3 ?

Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited. Spondylocostal dysostosis 3 is caused by mutations in the LFNG gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis.

What are the symptoms of Spondylocostal dysostosis 3 ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 3. 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 immune system physiology 90% Abnormality of the intervertebral disk 90% Abnormality of the ribs 90% Intrauterine growth retardation 90% Respiratory insufficiency 90% Scoliosis 90% Short neck 90% Short stature 90% Short thorax 90% Vertebral segmentation defect 90% Kyphosis 50% Abnormality of female internal genitalia 7. 5% Abnormality of the ureter 7. 5% Anomalous pulmonary venous return 7. 5% Anteverted nares 7. 5% Broad forehead 7. 5% Camptodactyly of finger 7. 5% Cleft palate 7. 5% Cognitive impairment 7. 5% Congenital diaphragmatic hernia 7. 5% Cryptorchidism 7. 5% Depressed nasal bridge 7. 5% Displacement of the external urethral meatus 7. 5% Finger syndactyly 7. 5% Long philtrum 7. 5% Low-set, posteriorly rotated ears 7. 5% Macrocephaly 7. 5% Meningocele 7. 5% Microcephaly 7. 5% Prominent occiput 7. 5% Spina bifida occulta 7. 5% Umbilical hernia 7. 5% Urogenital fistula 7. 5% Autosomal recessive inheritance - Slender finger - Supernumerary vertebral ossification centers - 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.

What is (are) Multiple epiphyseal dysplasia ?

Multiple epiphyseal dysplasia (MED) is a group of disorders of cartilage and bone development, primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of MED, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive. Signs and symptoms may include joint pain in the hips and knees; early-onset arthritis; a waddling walk; and mild short stature as adults. Recessive MED may also cause malformations of the hands, feet, and knees; scoliosis; or other abnormalities. Most people are diagnosed during childhood, but mild cases may not be diagnosed until adulthood. Dominant MED is caused by mutations in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 genes (or can be of unknown cause), and recessive MED is caused by mutations in the SLC26A2 gene.

What are the symptoms of Multiple epiphyseal dysplasia ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia. 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 cortical bone morphology 90% Abnormality of epiphysis morphology 90% Abnormality of the metaphyses 90% Abnormality of the ulna 90% Abnormality of the wrist 90% Anteverted nares 90% Aplasia/Hypoplasia of the sacrum 90% Brachydactyly syndrome 90% Delayed skeletal maturation 90% Limitation of joint mobility 90% Myopia 90% Osteoarthritis 90% Rough bone trabeculation 90% Round face 90% Sensorineural hearing impairment 90% Short palm 90% Tarsal synostosis 90% Abnormal form of the vertebral bodies 50% Abnormality of the femur 50% Abnormality of the hip bone 50% Arthralgia 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Gait disturbance 50% Malar flattening 50% Micromelia 50% Patellar aplasia 50% Scoliosis 50% Short stature 50% Talipes 50% Anonychia 7. 5% Genu valgum 7. 5% Genu varum 7. 5% Hearing abnormality 7. 5% Abnormality of the hip joint - Arthralgia of the hip - Autosomal dominant inheritance - Autosomal recessive inheritance - Avascular necrosis of the capital femoral epiphysis - Broad femoral neck - Coxa vara - Delayed epiphyseal ossification - Delayed ossification of carpal bones - Delayed tarsal ossification - Disproportionate short-limb short stature - Elevated serum creatine phosphokinase - Epiphyseal dysplasia - Flat capital femoral epiphysis - Flattened epiphysis - Generalized joint laxity - Hip dysplasia - Hip osteoarthritis - Hypoplasia of the capital femoral epiphysis - Hypoplasia of the femoral head - Irregular epiphyses - Irregular vertebral endplates - Joint stiffness - Knee osteoarthritis - Limited elbow flexion - Limited hip movement - Metaphyseal irregularity - Mild short stature - Multiple epiphyseal dysplasia - Ovoid vertebral bodies - Premature osteoarthritis - Proximal muscle weakness - Short femoral neck - Short metacarpal - Short phalanx of finger - Small epiphyses - Talipes equinovarus - Waddling gait - 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.

Is Multiple epiphyseal dysplasia inherited ?

Multiple epiphyseal dysplasia (MED) may be inherited in an autosomal dominant or autosomal recessive manner depending on the genetic cause. Most cases are autosomal dominant. In autosomal dominant inheritance, having a mutation in only one of the 2 copies of the responsible gene is enough to cause the condition. The mutation may be inherited from a parent or can occur for the first time in the affected person. Each child of a person with an autosomal dominant condition has a 50% (1 in 2) chance to inherit the mutation. More rarely, MED is inherited in an autosomal recessive manner. In autosomal recessive inheritance, a person must have a mutation in both copies of the responsible gene to be affected. The parents of a person with an autosomal recessive condition usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have signs or symptoms and are unaffected. When two carriers for the same condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% to be both unaffected and not a carrier.

What are the symptoms of Hairy nose tip ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Hairy nose tip. 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 hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Osteopetrosis autosomal recessive 2 ?

Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.

What are the symptoms of Osteopetrosis autosomal recessive 2 ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anemia - Autosomal recessive inheritance - Blindness - Carious teeth - Chronic rhinitis due to narrow nasal airway - Cranial hyperostosis - Diaphyseal sclerosis - Extramedullary hematopoiesis - Facial paralysis - Genu valgum - Hepatosplenomegaly - Mandibular osteomyelitis - Mandibular prognathia - Optic atrophy - Osteopetrosis - Pancytopenia - Persistence of primary teeth - Recurrent fractures - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Muscular dystrophy white matter spongiosis ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy white matter spongiosis. 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% Cognitive impairment 90% EMG abnormality 90% Facial palsy 90% Macrocephaly 90% Muscular hypotonia 90% Myotonia 90% Narrow face 90% Seizures 90% Skeletal muscle atrophy 90% Respiratory insufficiency 50% 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.

What are the symptoms of Mutiple parosteal osteochondromatous proliferations ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Mutiple parosteal osteochondromatous proliferations. 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 wrist 90% Multiple enchondromatosis 90% Tarsal synostosis 90% Autosomal dominant inheritance - Joint swelling - Osteochondroma - 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.

What are the symptoms of Ichthyosis cheek eyebrow syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis cheek eyebrow 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% Asymmetry of the thorax 90% Full cheeks 90% Ichthyosis 90% Pectus excavatum 90% Scoliosis 90% Sparse lateral eyebrow 90% Kyphosis 7. 5% Abnormality of the thorax - Autosomal dominant inheritance - High palate - Kyphoscoliosis - Pes planus - 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.

What are the symptoms of Epiphyseal dysplasia hearing loss dysmorphism ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Epiphyseal dysplasia hearing loss dysmorphism. 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 dermatoglyphics 90% Abnormality of the wrist 90% Anteverted nares 90% Behavioral abnormality 90% Cognitive impairment 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% Epicanthus 90% Facial asymmetry 90% Hypertelorism 90% Hypopigmented skin patches 90% Proximal placement of thumb 90% Seizures 90% Sensorineural hearing impairment 90% Short stature 90% Wide mouth 90% Abnormality of the genital system 50% Deep philtrum 50% Finger syndactyly 50% Long philtrum 50% Ptosis 50% Scoliosis 50% Abnormal localization of kidney 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.

What are the symptoms of Griscelli syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Griscelli 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) Hypopigmentation of hair 90% Hypopigmented skin patches 90% Premature graying of hair 90% Abnormality of lipid metabolism 50% Abnormality of neutrophils 50% Decreased antibody level in blood 50% Leukopenia 50% Lymphadenopathy 50% Thrombocytopenia 50% Abnormality of movement 7. 5% Abnormality of temperature regulation 7. 5% Abnormality of the eyebrow 7. 5% Ascites 7. 5% Bone marrow hypocellularity 7. 5% Cerebral cortical atrophy 7. 5% Cognitive impairment 7. 5% Cranial nerve paralysis 7. 5% Edema of the lower limbs 7. 5% Encephalocele 7. 5% Hepatomegaly 7. 5% Hydrocephalus 7. 5% Hypertonia 7. 5% Incoordination 7. 5% Muscular hypotonia 7. 5% Nystagmus 7. 5% Ocular albinism 7. 5% Seizures 7. 5% Short stature 7. 5% Splenomegaly 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.

What is (are) Triploidy ?

Triploidy is a chromosome abnormality that occurs when there is an extra set of chromosomes present in each cell. Most pregnancies affected by triploidy are lost through early miscarriage. However, reports exist of some affected babies living up to five months. Those that survive are often mosaic. The signs and symptoms associated with triploidy vary but may include a variety of birth defects and an unusually small size. This condition does not run in families and is not associated with maternal or paternal age. Treatment is based on the signs and symptoms present in each person.

What are the symptoms of Triploidy ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Triploidy. 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% Abnormality of the fontanelles or cranial sutures 90% Cryptorchidism 90% Decreased skull ossification 90% Displacement of the external urethral meatus 90% Hypertelorism 90% Hypoplasia of penis 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Wide mouth 90% Abnormality of the tongue 50% Aplasia/Hypoplasia affecting the eye 50% Cataract 50% Cleft palate 50% Finger syndactyly 50% Hepatomegaly 50% Iris coloboma 50% Narrow chest 50% Non-midline cleft lip 50% Omphalocele 50% Polyhydramnios 50% Abnormality of the cardiac septa 7. 5% Abnormality of the gallbladder 7. 5% Abnormality of the pancreas 7. 5% Aplasia/Hypoplasia of the corpus callosum 7. 5% Holoprosencephaly 7. 5% Hydrocephalus 7. 5% Intestinal malrotation 7. 5% Macrocephaly 7. 5% Meningocele 7. 5% Narrow mouth 7. 5% Short neck 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.

What are the symptoms of Tukel syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Tukel 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) Autosomal recessive inheritance - Carpal bone aplasia - Carpal synostosis - Compensatory chin elevation - Congenital fibrosis of extraocular muscles - Nonprogressive restrictive external ophthalmoplegia - Postaxial oligodactyly - Ptosis - Restrictive external ophthalmoplegia - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What is (are) Myotonia congenita autosomal dominant ?

Myotonia congenita is a genetic condition characterized by the inability of the skeletal muscles to quickly relax after a voluntary movement. The symptoms associated with the condition typically appear in childhood and vary from person to person. There are two forms of the disorder: Becker type, which is the most common form; and Thomsen disease, which is a rare and milder form. Both conditions are caused by mutations in the CLCN1 gene. However, the conditions have different modes of inheritance. The Becker type is inherited in an autosomal recessive fashion, and the Thomsen type is inherited in an autosomal dominant manner.

What are the symptoms of Myotonia congenita autosomal dominant ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonia congenita autosomal dominant. 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) EMG abnormality 90% Myotonia 90% Muscle weakness 75% Myalgia 5% Myotonia with warm-up phenomenon 27/27 Percussion myotonia 26/27 Muscle stiffness 25/27 Skeletal muscle hypertrophy 7/9 Myalgia 11/27 Autosomal dominant inheritance - Autosomal recessive inheritance - Childhood onset - Dysphagia - EMG: myotonic runs - Handgrip myotonia - Muscle hypertrophy of the lower extremities - Phenotypic variability - 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.

What is (are) Dystrophic epidermolysis bullosa ?

Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms can vary widely among affected people. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases often involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. DEB is caused by changes (mutations) in the COL7A1 gene and may be inherited in an autosomal dominant or autosomal recessive manner depending on the subtype. New blisters should be lanced, drained, and protected. Some patients need nutritional support, supplements, occupational therapy and/or surgery depending on the associated features of the disease.

What are the symptoms of Dystrophic epidermolysis bullosa ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Dystrophic epidermolysis bullosa. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the skin 90% Cheilitis 90% Abnormality of dental enamel 50% Abnormality of the hand 50% Abnormality of the larynx 50% Anonychia 50% Camptodactyly of toe 50% Carious teeth 50% Constipation 50% Feeding difficulties in infancy 50% Finger syndactyly 50% Furrowed tongue 50% Gangrene 50% Hypopigmented skin patches 50% Skin ulcer 50% Toe syndactyly 50% Tracheoesophageal fistula 50% Abnormality of the preputium 7. 5% Anemia 7. 5% Atypical scarring of skin 7. 5% Blepharitis 7. 5% Cerebral ischemia 7. 5% Congestive heart failure 7. 5% Corneal erosion 7. 5% Eczema 7. 5% Glomerulopathy 7. 5% Hearing impairment 7. 5% Hypertrophic cardiomyopathy 7. 5% Immunologic hypersensitivity 7. 5% Lacrimation abnormality 7. 5% Malabsorption 7. 5% Neoplasm of the skin 7. 5% Nephrotic syndrome 7. 5% Otitis media 7. 5% Renal insufficiency 7. 5% Restrictive lung disease 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.

What is (are) Limb-girdle muscular dystrophy, type 2C ?

Limb-girdle muscular dystrophy type 2C (LGMD2C) is a condition that affects the muscles and is caused by mutations in the gamma-sarcoglycan gene. This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles, primarily those in the shoulders and around the hips. LGMD2C is inherited in an autosomal recessive manner, and treatment is based on an individuals symptoms.

What are the symptoms of Limb-girdle muscular dystrophy, type 2C ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy, type 2C. 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) Autosomal recessive inheritance - Calf muscle pseudohypertrophy - Elevated serum creatine phosphokinase - Flexion contracture - Gowers sign - Hyperlordosis - Muscle fiber necrosis - Muscular dystrophy - Pneumonia - Rapidly progressive - Restrictive lung disease - Right ventricular dilatation - Right ventricular hypertrophy - Scoliosis - Skeletal muscle atrophy - 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.

What are the treatments for Limb-girdle muscular dystrophy, type 2C ?

There is no specific treatment for limb-girdle muscular dystrophy. Management of the condition is based on the persons symptoms and subtype (if known). The GeneReview article on limb-girdle muscular dystrophy lists the following approach for medical management of the condition: Weight control to avoid obesity Physical therapy and stretching exercises to promote mobility and prevent contractures Use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility Monitoring and surgical intervention as needed for orthopedic complications such as foot deformity and scoliosis Monitoring of respiratory function and use of respiratory aids when indicated Monitoring for evidence of cardiomyopathy in those subtypes with known occurrence of cardiac involvement Social and emotional support and stimulation to maximize a sense of social involvement and productivity and to reduce the sense of social isolation common in these disorders

What is (are) Pseudohypoparathyroidism type 1C ?

Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). However, pseudohypoparathyroidism is caused by no response to parathyroid hormone rather than having too little of the hormone itself. This causes low calcium and high phosphate levels in the blood. This condition is also associated with a group of symptoms referred to as Albrights hereditary osteodystrophy, which includes short stature, a round face, obesity, and short hand bones. This disorder is different than pseudohypoparathyroidism type 1A because people with type 1C do not have abnormal activity of a particular protein (stimulatory protein G (Gs alpha)). Type 1C is inherited in an autosomal dominant fashion and is caused by a specific spelling mistake (mutation) in the GNAS gene.

What are the symptoms of Pseudohypoparathyroidism type 1C ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 1C. 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) Autosomal dominant inheritance - Basal ganglia calcification - Brachydactyly syndrome - Cataract - Choroid plexus calcification - Cognitive impairment - Delayed eruption of teeth - Depressed nasal bridge - Elevated circulating parathyroid hormone (PTH) level - Full cheeks - Hyperphosphatemia - Hypocalcemic tetany - Hypogonadism - Hypoplasia of dental enamel - Hypothyroidism - Intellectual disability - Low urinary cyclic AMP response to PTH administration - Nystagmus - Obesity - Osteoporosis - Pseudohypoparathyroidism - Round face - Seizures - Short metacarpal - Short metatarsal - Short neck - Short stature - 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.

What is (are) Hereditary spherocytosis ?

Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, and enlargement of the spleen. Some people with a severe form may have short stature, delayed sexual development, and skeletal abnormalities. The condition is caused by mutations in any of several genes, such as the ANK1, EPB42, SLC4A1, SPTA1, and SPTB genes. It is most commonly inherited in an autosomal dominant manner, but may be inherited in an autosomal recessive manner. There are different types of hereditary spherocytosis, which are distinguished by severity and genetic cause. Depending on severity, treatment may involve splenectomy, red cell transfusions, folic acid supplementation, and/or cholecystectomy.

What are the symptoms of Hereditary spherocytosis ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary spherocytosis. 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) Autosomal dominant inheritance - Cholelithiasis - Hemolytic anemia - Hyperbilirubinemia - Jaundice - Reticulocytosis - Spherocytosis - Splenomegaly - 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.

What causes Hereditary spherocytosis ?

Hereditary spherocytosis may be caused by mutations in any one of several genes. The mutations that cause the condition result in the formation of spherical, overly rigid, misshapen red blood cells. The misshapen red blood cells, called spherocytes, are removed from circulation and taken to the spleen for destruction. Within the spleen, the red blood cells break down (undergo hemolysis). The shortage of red blood cells in the blood circulation and the abundance of cells in the spleen are responsible for the signs and symptoms of this condition. Mutations in the ANK1 gene are responsible for about half of all cases of hereditary spherocytosis. The other genes associated with hereditary spherocytosis account for a smaller percentage of cases and include the EPB42, SLC4A1, SPTA1, and SPTB genes.

Is Hereditary spherocytosis inherited ?

About 75 percent of cases of hereditary spherocytosis are inherited in an autosomal dominant manner, which means that one copy of the altered (mutated) gene in each cell is sufficient to cause the condition. The mutated gene may be inherited from an affected parent or may occur for the first time in the affected individual. Each child of an individual with an autosomal dominant form of hereditary spherocytosis has a 50% (1 in 2) risk to inherit the mutated gene. Less commonly, hereditary spherocytosis is inherited in an autosomal recessive manner, which means that both copies of the disease-causing gene in each cell have mutations. Parents of a person with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as carriers. Carriers of an autosomal recessive condition typically do not have signs and symptoms of the condition. When two carriers of the same autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have to condition, a 50% (1 in 2) risk to be a carrier like each parent, and a 25% risk to not have the condition and not be a carrier. In some of the cases that result from new mutations in people with no history of the condition in their family, the inheritance pattern may be unclear.

What are the symptoms of Spermatogenesis arrest ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Spermatogenesis arrest. 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 metabolism/homeostasis - Autosomal dominant inheritance - Autosomal recessive inheritance - Azoospermia - Recurrent spontaneous abortion - 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.

What are the symptoms of Phosphoglycerate kinase deficiency ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Phosphoglycerate kinase 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) Hemolytic anemia 60% Myopathy 45% Renal insufficiency 7. 5% Retinal dystrophy 5% Visual loss 5% Ataxia - Delayed speech and language development - Emotional lability - Exercise intolerance - Exercise-induced muscle cramps - Exercise-induced myoglobinuria - Intellectual disability - Migraine - Phenotypic variability - Reticulocytosis - Rhabdomyolysis - Seizures - 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.

What is (are) Hyperkalemic periodic paralysis ?

Hyperkalemic periodic paralysis is a genetic condition that causes episodes of extreme muscle weakness, usually beginning in infancy or early childhood. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. Episodes tend to increase in frequency until about age 25, after which they may occur less frequently. Factors that can trigger attacks include rest after exercise, potassium-rich foods, stress, fatigue, and long periods without food. Muscle strength improves between attacks, although many affected people continue to experience mild stiffness, particularly in muscles of the face and hands. This condition is caused by mutations in the SCN4A gene and is inherited in an autosomal dominant fashion.

What are the symptoms of Hyperkalemic periodic paralysis ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperkalemic periodic paralysis. 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) Cerebral palsy 90% EMG abnormality 90% Gait disturbance 50% Hyperkalemia 50% Involuntary movements 50% Myalgia 50% Myotonia 50% Arrhythmia 7. 5% Bowel incontinence 7. 5% Chest pain 7. 5% Congestive heart failure 7. 5% Feeding difficulties in infancy 7. 5% Flexion contracture 7. 5% Hypertonia 7. 5% Hypokalemia 7. 5% Hyponatremia 7. 5% Malignant hyperthermia 7. 5% Myopathy 7. 5% Ophthalmoparesis 7. 5% Paresthesia 7. 5% Respiratory insufficiency 7. 5% Skeletal muscle atrophy 7. 5% Skeletal muscle hypertrophy 7. 5% Autosomal dominant inheritance - Episodic flaccid weakness - Infantile onset - Periodic hyperkalemic paralysis - 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.

What is (are) Mal de debarquement ?

Mal de debarquement syndrome is a balance disorder that most commonly develops following an ocean cruise or other type of water travel and less commonly following air travel, train travel, or other motion experiences. The symptoms typically reported include: persistent sensation of motion such as rocking, swaying, and/or bobbing, difficulty maintaining balance, anxiety, fatigue, unsteadiness, and difficulty concentrating. The symptoms may be last anywhere from a month to years. Symptoms may or may not go away with time; however, they may reoccur following another motion experience or during periods of stress or illness. Although there is no known cure for mal de debarquement syndrome, there is evidence that some patients have responded positively to antidepressants or anti-seizure medications. Customized vestibular therapy and exercise routines may also be effective.

What are the treatments for Mal de debarquement ?

Treatment options for mal de debarquement syndrome (MdDS) are limited. Most drugs that work for other forms of dizziness do not work for MdDS. On some cases, medications classified as vestibular suppressants, such as anti-depressants and anti-seizure medications, may be used. Customized vestibular therapy like optokinetic stimulation has been effective in some cases. In recent years, a renewed interest in understanding the underlying cause of MdDS has led to new treatment options, including repetitive cranial stimulation. More studies into these treatment options are needed.

What is (are) Early infantile epileptic encephalopathy 4 ?

Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms may include intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.

What are the symptoms of Early infantile epileptic encephalopathy 4 ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Early infantile epileptic encephalopathy 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Absent speech - Autosomal dominant inheritance - Cerebral atrophy - Cerebral hypomyelination - Developmental regression - EEG with burst suppression - Epileptic encephalopathy - Epileptic spasms - Generalized myoclonic seizures - Generalized tonic seizures - Generalized tonic-clonic seizures - Hypoplasia of the corpus callosum - Hypsarrhythmia - Impaired horizontal smooth pursuit - Infantile encephalopathy - Intellectual disability, severe - Muscular hypotonia - Neonatal onset - Severe global developmental delay - Spastic paraplegia - Spastic tetraplegia - Status epilepticus - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What are the symptoms of Dystonia 7, torsion ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 7, torsion. 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) Autosomal dominant inheritance - Blepharospasm - Clumsiness - Dysphonia - Hand tremor - Oromandibular dystonia - Skeletal muscle hypertrophy - Torsion dystonia - Torticollis - Writers cramp - 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.

What are the symptoms of Keratolytic winter erythema ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Keratolytic winter erythema. 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) Palmoplantar keratoderma 90% Autosomal dominant inheritance - Erythema - 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.

What are the symptoms of Beukes familial hip dysplasia ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Beukes familial hip dysplasia. 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% Osteoarthritis 90% Kyphosis 7. 5% Scoliosis 7. 5% Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - Broad femoral neck - Childhood onset - Flat capital femoral epiphysis - Hip dysplasia - Irregular capital femoral epiphysis - Shallow acetabular fossae - Wide proximal femoral metaphysis - 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.

What are the 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.

What are the symptoms of MORM syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for MORM 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) Autosomal recessive inheritance - Cataract - Childhood-onset truncal obesity - Delayed speech and language development - Intellectual disability, moderate - Micropenis - Retinal dystrophy - Truncal obesity - Visual impairment - 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.

What is (are) Leukoencephalopathy with vanishing white matter ?

Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the central nervous system (CNS). This disorder causes deterioration of white matter, which consists of nerve fibers covered by myelin (the substance that protects the nerves). Most affected people begin to have signs and symptoms during childhood, but symptoms may first become apparent anywhere from before birth to adulthood. Symptoms may include difficulty coordinating movements (ataxia); muscle stiffness (spasticity); and optic atrophy. Symptoms may worsen rapidly with episodes of fever, after head trauma, or with other stresses on the body. This disorder may be caused by mutations in any of 5 genes and is inherited in an autosomal recessive manner. There is no specific treatment, and prognosis seems to correlate with the age of onset, the earliest forms being more severe.

What are the symptoms of Leukoencephalopathy with vanishing white matter ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy with vanishing white matter. 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) Juvenile onset 33% Macrocephaly 33% Blindness 7. 5% Autosomal recessive inheritance - Cerebral hypomyelination - Cessation of head growth - CNS demyelination - Decreased serum progesterone - Delusions - Developmental regression - Dysarthria - Emotional lability - Lethargy - Leukoencephalopathy - Memory impairment - Muscular hypotonia - Optic atrophy - Personality changes - Premature ovarian failure - Primary gonadal insufficiency - Secondary amenorrhea - Seizures - Spasticity - Unsteady gait - 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.

What causes Leukoencephalopathy with vanishing white matter ?

Leukoencephalopathy with vanishing white matter is a genetic condition caused by mutations in any of 5 genes - EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5. These genes give the body instructions to make the five parts (subunits) of a protein called eIF2B. This protein helps regulate overall production of protein in cells (protein synthesis). Proper regulation of protein synthesis ensures that the correct levels of protein are available for cells to cope with changing conditions and stress. Mutations in any of these 5 genes results in partial loss of eIF2B function, making it more difficult for cells to regulate protein synthesis and deal with changing conditions and stress. Researchers believe that cells in the white matter may be particularly affected by an abnormal response to stress, thus causing the signs and symptoms of this condition. Approximately 90% of affected people have been found to have mutations in one of these 5 genes. Approximately 10% of families who have been diagnosed by MRI and clinical features do not have an identifiable mutation, suggesting that additional genes may also be responsible for the condition.

Is Leukoencephalopathy with vanishing white matter inherited ?

Leukoencephalopathy with vanishing white matter is inherited in an autosomal recessive manner. This means that a person must have a mutation in both copies of the responsible gene to be affected. 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 have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance 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.

What are the treatments for Leukoencephalopathy with vanishing white matter ?

Treatment for leukoencephalopathy with vanishing white matter is supportive, aiming to alleviate symptoms. Management may include physical therapy and rehabilitation for motor dysfunction (mainly spasticity and ataxia); and anti-seizure medications for seizures. Infections and fevers should be prevented when possible through the use of vaccinations; low-dose maintenance antibiotics during winter months; antibiotics for minor infections; and antipyretics (fever-reducing medications) for fever. For children, wearing a helmet outside can help minimize the effects of head trauma. Contact sports, head trauma, and stressful situations (including high body temperature) should be avoided. More detailed information about the management of leukoencephalopathy with vanishing white matter is available on the GeneReviews Web site.

What is (are) Progressive multifocal leukoencephalopathy ?

Progressive multifocal leukoencephalopathy (PML) is a neurological disorder that damages the myelin that covers and protects nerves in the white matter of the brain. It is caused by the JC virus (JCV). By age 10, most people have been infected with this virus, but it rarely causes symptoms unless the immune system becomes severely weakened. The disease occurs, rarely, in organ transplant patients; people undergoing chronic corticosteroid or immunosuppressive therapy; and individuals with cancer, such as Hodgkins disease, lymphoma, and sarcoidosis. PML is most common among individuals with acquired immune deficiency syndrome (AIDS).

What are the treatments for Progressive multifocal leukoencephalopathy ?

Currently, the best available therapy is reversal of the immune-deficient state. This can sometimes be accomplished by alteration of chemotherapy or immunosuppression. In the case of HIV-associated PML, immediately beginning anti-retroviral therapy will benefit most individuals.

What are the symptoms of Madokoro Ohdo Sonoda syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Madokoro Ohdo Sonoda 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 metabolism/homeostasis - Absent lacrimal punctum - Autosomal recessive inheritance - Bulbous nose - Constipation - Cryptorchidism - Downturned corners of mouth - Ectodermal dysplasia - High, narrow palate - Hypoplastic lacrimal duct - Hypotrichosis - Intellectual disability - Preauricular pit - Sacral dimple - Tetraamelia - Umbilical hernia - Upslanted palpebral fissure - 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.

What is (are) Hemolytic uremic syndrome ?

Hemolytic uremic syndrome (HUS) is a disorder that usually occurs when an E. coli bacterial infection in the digestive system produces toxic substances that destroy red blood cells. Symptoms include vomiting and diarrhea, fever, lethargy, and weakness. In severe cases it can lead to kidney failure or death. While this condition is most common in children, it often has a more complicated presentation in adults. Treatment may include dialysis, corticosteroids, transfusions of packed red blood cells and plasmapheresis. Hemolytic uremic syndrome should be distinguished from atypical hemolytic uremic syndrome (aHUS). The two conditions have different causes and different signs and symptoms.

What are the symptoms of Hemolytic uremic syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Hemolytic uremic 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) Acute kidney injury - Anuria - Autosomal dominant inheritance - Autosomal recessive inheritance - Cognitive impairment - Coma - Decreased serum complement C3 - Decreased serum complement factor B - Decreased serum complement factor H - Decreased serum complement factor I - Diarrhea - Dysphasia - Elevated serum creatinine - Fever - Hemiparesis - Hemolytic-uremic syndrome - Hyperlipidemia - Hypertension - Increased blood urea nitrogen (BUN) - Microangiopathic hemolytic anemia - Purpura - Reticulocytosis - Schistocytosis - Seizures - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.

What causes Hemolytic uremic syndrome ?

Hemolytic uremic syndrome often occurs after a gastrointestinal infections with E. coli bacteria (Escherichia coli 0157:H7). The condition has also been linked to other gastrointestinal infections, including shigella and salmonella, as well as infections outside of the gastrointestinal system. The condition results when the bacteria lodge in the digestive tract and produce toxins that can enter the bloodstream. The toxins travel through the bloodstream and can destroy blood cells, causing acute kidney injury.

What are the symptoms of Oculoectodermal syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Oculoectodermal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 90% Aplasia/Hypoplasia of the skin 90% Epibulbar dermoid 90% Generalized hyperpigmentation 90% Abnormality of the cardiovascular system 50% Aganglionic megacolon 50% Anteverted nares 50% Blepharophimosis 50% Brachydactyly syndrome 50% Epicanthus 50% Hearing abnormality 50% Laryngeal atresia 50% Macrocephaly 50% Muscular hypotonia 50% Polyhydramnios 50% Proptosis 50% Short nose 50% Strabismus 50% Telecanthus 50% Abnormal facial shape 7. 5% Cleft eyelid 7. 5% Displacement of the external urethral meatus 7. 5% Arachnoid cyst 5% Astigmatism 5% Depressed nasal bridge 5% Opacification of the corneal stroma 5% Parietal bossing 5% Wide nasal bridge 5% Anisometropia - Aplasia cutis congenita - Autosomal dominant inheritance - Bladder exstrophy - Coarctation of aorta - Epidermal nevus - Growth delay - Hyperactivity - Hyperpigmentation of the skin - Lower limb asymmetry - Lymphedema - Phenotypic variability - Seizures - Transient ischemic attack - 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.

What is (are) Feltys syndrome ?

Feltys syndrome is a rare, potentially serious disorder that is defined by the presence of three conditions: rheumatoid arthritis (RA), an enlarged spleen (splenomegaly) and a decreased white blood cell count (neutropenia), which causes repeated infections. Although some individuals with Feltys syndrome are asymptomatic, others can develop serious and life-threatening infections. Symptoms of Feltys syndrome, in addition to those associated with the three conditions stated above, may include fatigue, fever, weight loss, discoloration of patches of skin, mild hepatomegaly (enlarged liver), lymphadenopathy (swelling of lymph nodes), Sjgren syndrome, vasculitis, lower-extremity ulcers, and other findings. The exact cause is unknown, but several risk factors have been proposed, including autoimmunity. A few familial cases of the condition have been reported. Treatment typically focuses on controlling the underlying RA; immunosuppressive therapy for RA may improve neutropenia and splenomegaly.

What are the symptoms of Feltys syndrome ?

The Human Phenotype Ontology provides the following list of signs and symptoms for Feltys 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 neutrophils 90% Arthralgia 90% Arthritis 90% Autoimmunity 90% Limitation of joint mobility 90% Osteolysis 90% Abnormality of lymphocytes 50% Anemia 50% Lymphadenopathy 50% Otitis media 50% Recurrent pharyngitis 50% Sinusitis 50% Splenomegaly 50% Weight loss 50% Abnormality of the pericardium 7. 5% Abnormality of the pleura 7. 5% Bone marrow hypocellularity 7. 5% Cellulitis 7. 5% Generalized hyperpigmentation 7. 5% Hepatomegaly 7. 5% Inflammatory abnormality of the eye 7. 5% Irregular hyperpigmentation 7. 5% Lymphoma 7. 5% Peripheral neuropathy 7. 5% Pulmonary fibrosis 7. 5% Recurrent urinary tract infections 7. 5% Sepsis 7. 5% Skin ulcer 7. 5% Thrombocytopenia 7. 5% Autosomal dominant inheritance - Neutropenia - Rheumatoid arthritis - 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.

What causes Feltys syndrome ?

The exact cause of Feltys syndrome is unknown, although several causes and risk factors have been proposed. Some experts believe it may be an autoimmune disorder, and that it may sometimes be inherited in an autosomal dominant manner. Other proposed risk factors have included: RF (rheumatoid factor) positivity - being positive for a test used to help diagnose rheumatoid arthritis Long-term rheumatoid arthritis Aggressive and erosive synovitis (inflammation of the tissue that lines the joints) HLA-DR4 positivity (having a specific gene for the immune system that is associated with RA) and DR4 homozygosity (having 2 identical copies of this gene) Extra-articular RA manifestations (symptoms that are not joint-related)