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What is (are) Chromosome 14q deletion ? | Chromosome 14q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 14. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 14q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about 14q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 14. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders. | |
What is (are) Usher syndrome, type 1B ? | 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 1B ? | What are the signs and symptoms of Usher syndrome, type 1B? The Human Phenotype Ontology provides the following list of signs and symptoms for Usher syndrome, type 1B. 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 vestibular function - Autosomal recessive inheritance - Heterogeneous - Motor delay - Rod-cone dystrophy - Sensorineural hearing impairment - Undetectable electroretinogram - Visual loss - 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 1B inherited ? | How is Usher syndrome 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) Emanuel syndrome ? | Emanuel syndrome is a chromosome disorder that causes problems with physical and intellectual development. Signs and symptoms can vary but may include severe intellectual disability; small head size (microcephaly); failure to thrive; cleft palate or high-arched palate; small jaw (micrognathia); congenital heart defects; and abnormalities of the ears, kidneys, and/or male genitals. It is caused by having extra material from chromosomes 11 and 22 in each cell. Almost all people with Emanuel syndrome inherit the extra chromosome material from an unaffected parent with a balanced translocation. Treatment focuses on the specific signs and symptoms in each person. | |
What are the symptoms of Emanuel syndrome ? | What are the signs and symptoms of Emanuel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Emanuel 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 - Anal atresia - Aortic valve stenosis - Atria septal defect - Broad jaw - Cerebral atrophy - Cleft palate - Congenital diaphragmatic hernia - Congenital hip dislocation - Constipation - Cryptorchidism - Deeply set eye - Delayed eruption of primary teeth - Delayed speech and language development - Dental crowding - Facial asymmetry - Feeding difficulties - Gastroesophageal reflux - Hearing impairment - High palate - Hypoplasia of the corpus callosum - Inguinal hernia - Intellectual disability - Intrauterine growth retardation - Kyphosis - Long philtrum - Low hanging columella - Low-set ears - Low-set nipples - Macrotia - Microcephaly - Micropenis - Muscular hypotonia - Myopia - Patent ductus arteriosus - Preauricular pit - Preauricular skin tag - Pulmonic stenosis - Recurrent otitis media - Recurrent respiratory infections - Renal agenesis - Renal hypoplasia - Scoliosis - Seizures - Single umbilical artery - Strabismus - Thickened nuchal skin fold - Truncus arteriosus - Upslanted palpebral fissure - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Tyrosinemia type 1 ? | Tyrosinemia type 1 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a shortage of the enzyme fumarylacetoacetate hydrolase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the FAH gene. Symptoms usually appear in the first few months of life and include failure to thrive, diarrhea, vomiting, jaundice, cabbage-like odor, and increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, problems affecting the nervous system, and an increased risk of liver cancer. This condition is inherited in an autosomal recessive manner. | |
What are the symptoms of Tyrosinemia type 1 ? | What are the signs and symptoms of Tyrosinemia type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tyrosinemia 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) Aminoaciduria 90% Abnormality of bone mineral density 7.5% Abnormality of the spleen 7.5% Hepatomegaly 7.5% Abnormal bleeding - Abnormality of the abdominal wall - Acute hepatic failure - Ascites - Autosomal recessive inheritance - Cirrhosis - Elevated alpha-fetoprotein - Elevated hepatic transaminases - Elevated urinary delta-aminolevulinic acid - Enlarged kidneys - Episodic peripheral neuropathy - Failure to thrive - Gastrointestinal hemorrhage - Glomerulosclerosis - Hepatocellular carcinoma - Hypermethioninemia - Hypertrophic cardiomyopathy - Hypertyrosinemia - Hypoglycemia - Hypophosphatemic rickets - Nephrocalcinosis - Pancreatic islet-cell hyperplasia - Paralytic ileus - Periodic paralysis - Renal Fanconi syndrome - Renal insufficiency - 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 are the treatments for Tyrosinemia type 1 ? | How might tyrosinemia type 1 be treated? There is currently no cure for tyrosinemia type 1. Individuals with this condition need to be on a special diet restricted in two amino acids, tyrosine and phenylalanine, throughout life. Affected individuals may also be treated with a medication called nitisinone. Early diagnosis and prompt treatment are essential for an improved prognosis. Some individuals require a liver transplant if their liver disease is already advanced before treatment begins. Detailed information on the treatment of tyrosinemia type 1 is available from GeneReviews. | |
What is (are) Fetal and neonatal alloimmune thrombocytopenia ? | Fetal and neonatal alloimmune thrombocytopenia (NAIT) is a condition where a fetus or newborn experiences severe thrombocytopenia (low platelet count). NAIT occurs when the mother's immune system develops antibodies against antigens on the fetal platelets, which are inherited from the father and different from those present in the mother. These antibodies cross the placenta and can cause severe thrombocytopenia in the fetus. NAIT has been considered to be the platelet counterpart of Rh Hemolytic Disease of the Newborn (RHD). The incidence has been estimated at 1/800 to 1/1,000 live births. The spectrum of the disease may range from mild thrombocytopenia to life-threatening bleeding. | |
What are the treatments for Fetal and neonatal alloimmune thrombocytopenia ? | How might fetal and neonatal alloimmune thrombocytopenia (NAIT) be treated? NAIT is often unexpected and is usually diagnosed after birth. Once suspected, the diagnosis is confirmed by demonstration of maternal anti-platelet antibodies directed against a paternal antigen inherited by the baby. Management in the newborn period involves transfusion of platelets that do not contain the specific antigens. Prompt diagnosis and treatment are essential to reduce the chances of death and disability due to severe bleeding. | |
What are the symptoms of Ichthyosis, acquired ? | What are the signs and symptoms of Ichthyosis, acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis, acquired. 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) Dry skin 90% Ichthyosis 90% Pruritus 90% Immunologic hypersensitivity 50% Palmoplantar keratoderma 50% Skin ulcer 50% Autoimmunity 7.5% Lymphoma 7.5% Multiple myeloma 7.5% Renal insufficiency 7.5% Sarcoma 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) Split hand split foot nystagmus ? | Split hand split foot nystagmus is a rare congenital syndrome characterized by split hand and split foot deformity and eye abnormalities, especially nystagmus. It is thought to have an autosomal dominant mode of inheritance. Currently, the underlying genetic defect has not been identified. The outlook for children with this condition is good. | |
What are the symptoms of Split hand split foot nystagmus ? | What are the signs and symptoms of Split hand split foot nystagmus? People with this condition are born with split hands and feet. Split hands and split foot refers to a developmental malformation consisting of missing digits (fingers and/or toes), a deep median cleft (cleft down the center of the hand or foot), and fusion of remaining digits. People with this syndrome also have rapid involuntary movements of the eyes, called nystagmus. Abnormalities of the teeth can occur rarely. The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand split foot nystagmus. 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 90% Split foot 90% Split hand 90% Abnormality of the metacarpal bones 50% Strabismus 50% Visual impairment 50% Abnormality of retinal pigmentation 7.5% Cataract 7.5% Autosomal dominant inheritance - Congenital nystagmus - Monodactyly (hands) - Retinopathy - 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 Split hand split foot nystagmus inherited ? | How is split hand split foot nystagmus inherited? Split hand split foot nystagmus is thought to be inherited in an autosomal dominant fashion. A person with an autosomal dominant condition has a 50% chance of passing the condition on to their children. Click here to learn more about autosomal dominant inheritance. Sometimes a person is the only one in their family with the autosomal dominant disorder. One explanation for this is that the person has a de novo or new mutation. De novo mutations refer to a change in a gene that is present for the first time in one family member as a result of a mutation in the mothers egg or fathers sperm, or in the fertilized egg itself. In addition, there have been a couple of case reports where unaffected parents had more than one child with split hand split foot nystagmus. It is thought that this may have been due to germline mosaicism. In germline mosaicism, one of the unaffected parents has the disease-causing genetic mutation in some of his/her eggs or sperm only. Click here to learn more about mosaicism. | |
What are the symptoms of Nestor-guillermo progeria syndrome ? | What are the signs and symptoms of Nestor-guillermo progeria syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nestor-guillermo progeria 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 forearm - Abnormality of the ribs - Atherosclerosis - Autosomal recessive inheritance - Convex nasal ridge - Delayed closure of the anterior fontanelle - Dental crowding - Failure to thrive - Flexion contracture - Hypoplasia of midface - Joint stiffness - Lipoatrophy - Malar flattening - Osteolytic defects of the distal phalanges of the hand - Osteoporosis - Progressive clavicular acroosteolysis - Proptosis - Pulmonary hypertension - Scoliosis - Short stature - Sinus tachycardia - Sparse eyebrow - Sparse eyelashes - Spotty hyperpigmentation - Wide cranial sutures - 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 Conductive deafness with malformed external ear ? | What are the signs and symptoms of Conductive deafness with malformed external ear? The Human Phenotype Ontology provides the following list of signs and symptoms for Conductive deafness with malformed external ear. 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) Conductive hearing impairment 90% Low-set, posteriorly rotated ears 90% Abnormality of the palate 50% Cognitive impairment 50% Overfolded helix 50% Atresia of the external auditory canal 7.5% Hernia of the abdominal wall 7.5% Preauricular skin tag 7.5% Sensorineural hearing impairment 7.5% Abnormality of the middle ear ossicles - Autosomal recessive inheritance - Hypogonadism - Intellectual disability - 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 19 ? | What are the signs and symptoms of Dystonia 19? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystonia 19. 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 - Chorea - Dyskinesia - Dystonia - Paroxysmal dyskinesia - 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) Glutaric acidemia type II ? | Glutaric acidemia type II (GA2) is a disorder that interferes with the body's ability to break down proteins and fats to produce energy. The severity of GA2 varies widely among affected individuals. Some have a very severe form which appears in the neonatal period and may be fatal; individuals with this form may be born with physical abnormalities including brain malformations, an enlarged liver, kidney malformations, unusual facial features, and genital abnormalities. They may also emit an odor resembling sweaty feet. Others have a less severe form which may appear in infancy, childhood, or even adulthood. Most often, GA2 first appears in infancy or early childhood as a sudden episode of a metabolic crisis that can cause weakness, behavior changes (such as poor feeding and decreased activity) and vomiting. GA2 is inherited in an autosomal recessive manner and is caused by mutations in the ETFA, ETFB, or ETFDH genes. Treatment varies depending on the severity and symptoms but often includes a low fat, low protein, and high carbohydrate diet. | |
What are the symptoms of Glutaric acidemia type II ? | What are the signs and symptoms of Glutaric acidemia type II? Signs and symptoms of glutaric acidemia type II (GA2) can vary widely depending on the age of onset and severity of the condition in each affected individual. In most cases, the condition appears in infancy or early childhood as a sudden episode called a metabolic crisis which causes weakness; behavior changes such as poor feeding and decreased activity; and vomiting. These crises can be life-threatening and may be triggered by common childhood illnesses or other stresses on the body. The most severe cases may appear in the neonatal period (within the first 4 weeks of life) and may also be characterized by the presence of physical abnormalities at birth. These abnormalities may include brain malformations; an enlarged liver (hepatomegaly); a weakened and enlarged heart (dilated cardiomyopathy); fluid-filled cysts and other malformations of the kidneys; unusual facial features; and genital abnormalities. Some affected individuals have a characteristic odor resembling sweaty feet. Other cases are less severe and may appear later in childhood, in adolescence, or in adulthood. In the most mild cases, muscle weakness may be the first sign of the disorder. The Human Phenotype Ontology provides the following list of signs and symptoms for Glutaric acidemia type II. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape - Abnormality of the genital system - Abnormality of the pinna - Autosomal recessive inheritance - Congenital cataract - Defective dehydrogenation of isovaleryl CoA and butyryl CoA - Depressed nasal bridge - Electron transfer flavoprotein-ubiquinone oxidoreductase defect - Ethylmalonic aciduria - Generalized aminoaciduria - Gliosis - Glutaric acidemia - Glutaric aciduria - Glycosuria - Hepatic periportal necrosis - Hepatic steatosis - Hepatomegaly - High forehead - Hypoglycemia - Hypoglycemic coma - Jaundice - Macrocephaly - Muscle weakness - Muscular hypotonia - Nausea - Neonatal death - Pachygyria - Polycystic kidney dysplasia - Proximal tubulopathy - Pulmonary hypoplasia - Renal cortical cysts - Respiratory distress - Telecanthus - Vomiting - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the treatments for Glutaric acidemia type II ? | How might glutaric acidemia type II be treated? The goal of treatment is to prevent long-term problems. However, children who have repeated metabolic crises may develop life-long learning problems. Individuals with glutaric acidemia type II should consult with a metabolic doctor and a dietician who can help to develop an appropriate dietary plan. Some treatments may be recommended for some children but not for others. When necessary, treatment should be continued throughout the lifetime. The following treatments are often recommended: -Avoidance of fasting. Infants and young children with glutaric acidemia type II should eat frequent meals in order to prevent hypoglycemia and metabolic crises. -A low-fat, low-protein, high-carbohydrate diet may be advised. -Riboflavin, L-carnitine and glycine supplements may be needed. These supplements help the body create energy. -Alert the child's doctor if they should become ill, as illness can trigger a metabolic crisis. | |
What are the symptoms of Charcot-Marie-Tooth disease type 4B2 ? | What are the signs and symptoms of Charcot-Marie-Tooth disease type 4B2? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 4B2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autosomal recessive inheritance - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Difficulty walking - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Glaucoma - Hammertoe - Hyporeflexia - Juvenile onset - Kyphoscoliosis - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - Sensorineural hearing impairment - Steppage gait - Talipes equinovarus - Ulnar claw - 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 Temporal epilepsy, familial ? | What are the signs and symptoms of Temporal epilepsy, familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Temporal epilepsy, familial. 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 - Febrile seizures - Focal seizures with impairment of consciousness or awareness - Focal seizures without impairment of consciousness or awareness - Generalized tonic-clonic seizures - Incomplete penetrance - Onset - 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 Hermansky Pudlak syndrome 2 ? | What are the signs and symptoms of Hermansky Pudlak syndrome 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Hermansky Pudlak 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) Aberrant melanosome maturation - Acetabular dysplasia - Albinism - Autosomal recessive inheritance - Carious teeth - Coarse facial features - Congenital onset - Fair hair - Hepatomegaly - Hip dysplasia - Intellectual disability, mild - Long philtrum - Low-set ears - Microcephaly - Motor delay - Neutropenia - Nystagmus - Ocular albinism - Periodontitis - Photophobia - Posteriorly rotated ears - Pulmonary fibrosis - Recurrent bacterial infections - Reduced visual acuity - Smooth philtrum - Splenomegaly - Strabismus - Thrombocytopenia - Upslanted palpebral fissure - Visual impairment - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Osteopetrosis autosomal recessive 7 ? | 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 7 ? | What are the signs and symptoms of Osteopetrosis autosomal recessive 7? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal recessive 7. 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) Decreased antibody level in blood 3/4 Abnormal trabecular bone morphology - Anemia - Autosomal recessive inheritance - Nystagmus - Optic nerve compression - Osteopetrosis - Progressive visual loss - Recurrent pneumonia - 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) X-linked Charcot-Marie-Tooth disease type 5 ? | X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is a neurological condition characterized by peripheral neuropathy, early-onset bilateral profound sensorineural hearing loss, and optic neuropathy leading to visual impairment. Peripheral neuropathy often begins with the lower extremities during childhood with foot drop and difficulty walking. Symptoms in the upper extremities are generally less severe and develop later. Intellect and life span are normal. CMTX5 is caused by a mutation in the PRPS1 gene. The condition is inherited in an X-linked recessive manner. In rare cases, female carriers may exhibit mild symptoms. Standard guidelines for treatment of peripheral neuropathy, hearing loss and vision impairment should be followed. | |
What are the symptoms of X-linked Charcot-Marie-Tooth disease type 5 ? | What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 5. 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) Decreased nerve conduction velocity 90% Hearing impairment 90% Optic atrophy 90% Pes cavus 90% Impaired pain sensation 50% Gait disturbance 7.5% Hemiplegia/hemiparesis 7.5% Incoordination 7.5% Kyphosis 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Scoliosis 7.5% Tremor 7.5% Areflexia of lower limbs - Childhood onset - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Motor delay - Onion bulb formation - Progressive visual loss - Segmental peripheral demyelination/remyelination - Sensorineural hearing impairment - 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) Ainhum ? | Ainhum is the autoamputation of a finger or toe as a result of a fibrotic band that constricts the finger or toe until it falls off. Ainhum most often affects the fifth toe on both feet. Ainhum is believed to be triggered by some sort of trauma, but the exact reason why it happens is not well understood. The condition mainly affects people that live in tropical regions. | |
What are the symptoms of Ainhum ? | What are the signs and symptoms of Ainhum? The Human Phenotype Ontology provides the following list of signs and symptoms for Ainhum. 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) Amniotic constriction ring - 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 Aniridia absent patella ? | What are the signs and symptoms of Aniridia absent patella? The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia absent patella. 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 iris 90% Patellar aplasia 90% Cataract 50% Cryptorchidism 50% Glaucoma 50% Hernia of the abdominal wall 50% Muscular hypotonia 50% Ptosis 50% Aniridia - Aplasia/Hypoplasia of the patella - 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 Syndactyly-polydactyly-earlobe syndrome ? | What are the signs and symptoms of Syndactyly-polydactyly-earlobe syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly-polydactyly-earlobe 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) Anterior creases of earlobe 90% Postaxial hand polydactyly 50% 1-2 toe complete cutaneous syndactyly - Autosomal dominant inheritance - Bifid distal phalanx of toe - Broad toe - Preaxial foot polydactyly - Preaxial hand polydactyly - 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 Omodysplasia 2 ? | What are the signs and symptoms of Omodysplasia 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Omodysplasia 2. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Cryptorchidism 90% Elbow dislocation 90% Limb undergrowth 90% Depressed nasal bridge 50% Frontal bossing 50% Hypertelorism 50% Hypoplasia of penis 50% Long philtrum 50% Malar flattening 50% Scrotal hypoplasia 50% Short nose 50% Abnormality of female internal genitalia 7.5% Brachydactyly syndrome 7.5% Patellar dislocation 7.5% Autosomal dominant inheritance - Bifid nasal tip - Dislocated radial head - Hypoplastic distal humeri - Hypospadias - Limited elbow flexion/extension - Micropenis - Rhizomelic arm shortening - Short 1st metacarpal - Short humerus - 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 Malonyl-CoA decarboxylase deficiency ? | What are the signs and symptoms of Malonyl-CoA decarboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Malonyl-CoA decarboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Abnormality of the cardiovascular system 50% Constipation 50% Hypoglycemia 50% Muscular hypotonia 50% Seizures 50% Pachygyria 5% Abdominal pain - Autosomal recessive inheritance - Chronic constipation - Diarrhea - Hypertrophic cardiomyopathy - Ketosis - Lactic acidosis - Metabolic acidosis - Short stature - 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 are the symptoms of Ulna metaphyseal dysplasia syndrome ? | What are the signs and symptoms of Ulna metaphyseal dysplasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulna metaphyseal dysplasia 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 hip bone 90% Abnormality of the metaphyses 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Delayed skeletal maturation 90% Abnormal form of the vertebral bodies 50% Abnormality of the fibula 50% Abnormality of the metacarpal bones 50% Short stature 50% Abnormality of the voice 7.5% Depressed nasal ridge 7.5% Microdontia 7.5% Nephrolithiasis 7.5% Abnormality of the vertebral column - Autosomal dominant inheritance - Coxa valga - Hypercalcemia - 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) Oculofaciocardiodental syndrome ? | Oculofaciocardiodental syndrome is a genetic syndrome that affects the eyes, heart, face, and teeth. Common signs and symptoms include abnormally small deep-set eyes, cataracts, long narrow face, a broad nasal tip that is divided by a cleft, heart defects, and teeth with very large roots. Other signs and symptoms include glaucoma, cleft palate, delayed loss of baby teeth, missing or abnormally small teeth, misaligned teeth, and defective tooth enamel. Eye symptoms may involve one or both eyes.Oculofaciocardiodental syndrome is caused by mutations in the BCOR gene and is inherited in an X-linked dominant fashion. | |
What are the symptoms of Oculofaciocardiodental syndrome ? | What are the signs and symptoms of Oculofaciocardiodental syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculofaciocardiodental 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 cardiac septa 90% Aplasia/Hypoplasia affecting the eye 90% Cataract 90% Delayed eruption of teeth 90% Microcornea 90% Midline defect of the nose 90% Camptodactyly of toe 50% Cleft palate 50% Long philtrum 50% Narrow face 50% Prominent nasal bridge 50% Radioulnar synostosis 50% Reduced number of teeth 50% Toe syndactyly 50% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary valve 7.5% Aplasia/Hypoplasia of the thumb 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Cubitus valgus 7.5% Ectopia lentis 7.5% Feeding difficulties in infancy 7.5% Genu valgum 7.5% Glaucoma 7.5% Highly arched eyebrow 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Patent ductus arteriosus 7.5% Ptosis 7.5% Retinal detachment 7.5% Scoliosis 7.5% Sensorineural hearing impairment 7.5% Adrenal insufficiency 5% Decreased body weight 5% Dextrocardia 5% Double outlet right ventricle 5% Flexion contracture 5% Hand clenching 5% Hypoplasia of the corpus callosum 5% Hypospadias 5% Hypothyroidism 5% Phthisis bulbi 5% Seizures 5% Spastic paraparesis 5% Talipes equinovarus 5% Umbilical hernia 5% 2-3 toe syndactyly - Anophthalmia - Aortic valve stenosis - Asymmetry of the ears - Atria septal defect - Bifid nasal tip - Bifid uvula - Blepharophimosis - Broad nasal tip - Congenital cataract - Cryptorchidism - Dental malocclusion - Exotropia - Fused teeth - Hammertoe - Increased number of teeth - Intellectual disability, mild - Laterally curved eyebrow - Long face - Microcephaly - Microphthalmia - Mitral valve prolapse - Motor delay - Oligodontia - Persistence of primary teeth - Persistent hyperplastic primary vitreous - Posteriorly rotated ears - Pulmonic stenosis - Septate vagina - Short stature - Submucous cleft hard palate - Thick eyebrow - Ventricular septal defect - Visual loss - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Progressive familial intrahepatic cholestasis type 2 ? | Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during infancy, which may include severe itching, jaundice, failure to thrive, portal hypertension (high blood pressure in the vein that provides blood to the liver) and hepatosplenomegaly (enlarged liver and spleen). PFIC2 generally progresses to liver failure in the first few years of life. Affected people also have an increased risk of developing hepatocellular carcinoma (a form of liver cancer). PFIC2 is caused by change (mutations) in the ABCB11 gene and is inherited in an autosomal recessive manner. Treatment may include ursodeoxycholic acid therapy to prevent liver damage, surgery and/or liver transplantation. | |
What are the symptoms of Progressive familial intrahepatic cholestasis type 2 ? | What are the signs and symptoms of Progressive familial intrahepatic cholestasis type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive familial intrahepatic cholestasis type 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) Autosomal recessive inheritance - Cirrhosis - Conjugated hyperbilirubinemia - Death in childhood - Diarrhea - Elevated alkaline phosphatase - Failure to thrive - Fat malabsorption - Hepatocellular carcinoma - Hepatomegaly - Infantile onset - Intermittent jaundice - Intrahepatic cholestasis - Pruritus - Short stature - 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 are the symptoms of 8q12 microduplication syndrome ? | What are the signs and symptoms of 8q12 microduplication syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 8q12 microduplication 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 segregation 90% Blepharophimosis 90% Cognitive impairment 90% Highly arched eyebrow 90% Muscular hypotonia 90% Sensorineural hearing impairment 90% Strabismus 90% Ventricular septal defect 90% Abnormality of calvarial morphology 50% Abnormality of the cranial nerves 50% Atria septal defect 50% Attention deficit hyperactivity disorder 50% Brachydactyly syndrome 50% Epicanthus 50% Long philtrum 50% Narrow mouth 50% Short toe 50% Telecanthus 50% Vesicoureteral reflux 50% Wide nasal bridge 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 Gorlin Bushkell Jensen syndrome ? | What are the signs and symptoms of Gorlin Bushkell Jensen syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gorlin Bushkell Jensen syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fingernails 90% Abnormality of the toenails 90% Adenoma sebaceum 90% Nephrolithiasis 90% Blepharitis 50% Photophobia 50% Type II diabetes mellitus 7.5% Autosomal dominant inheritance - Autosomal recessive inheritance - Concave nail - Leukonychia - 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) Stevens-Johnson syndrome ? | Stevens-Johnson Syndrome (SJS), also called erythema multiforme major, is a limited form of toxic epidermal necrolysis. This disorder affects the skin, mucous membranes and eyes. Stevens-Johnson syndrome occurs twice as often in men as women, and most cases appear in children and young adults under 30, although it can develop in people at any age. Having a gene called HLA-B 1502, increases risk of having Stevens-Johnson syndrome. It is an emergency medical condition that usually requires hospitalization. Treatment focuses on eliminating the underlying cause, controlling symptoms and minimizing complications and includes pain medication to reduce discomfort, medication to relieve itching (antihistamines), antibiotics to control infection, when needed and medication to reduce skin inflammation (topical steroids). | |
What are the symptoms of Stevens-Johnson syndrome ? | What are the signs and symptoms of Stevens-Johnson syndrome? Often, Stevens-Johnson syndrome begins with flu-like symptoms, followed by a painful red or purplish rash that spreads and blisters, eventually causing the top layer of the skin to die and shed. To be classified as Stevens-Johnson syndrome, the condition must involve less than 10% of the body surface area. The condition is characterized by painful, blistery lesions on the skin and the mucous membranes (the thin, moist tissues that line body cavities) of the mouth, throat, genital region, and eyelids. It can also cause serious eye problems, such as severe conjunctivitis; iritis, an inflammation inside the eye; corneal blisters and erosions; and corneal holes. In some cases, the ocular complications from this condition can be disabling and lead to severe vision loss. The Human Phenotype Ontology provides the following list of signs and symptoms for Stevens-Johnson syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of temperature regulation 90% Acantholysis 90% Hypermelanotic macule 90% Malabsorption 90% Nausea and vomiting 90% Weight loss 90% Abnormality of neutrophils 50% Excessive salivation 50% Feeding difficulties in infancy 50% Abdominal pain 7.5% Abnormality of the eyelid 7.5% Abnormality of the myocardium 7.5% Abnormality of the pleura 7.5% Abnormality of the preputium 7.5% Abnormality of the urethra 7.5% Acute hepatic failure 7.5% Anemia 7.5% Corneal erosion 7.5% Coronary artery disease 7.5% Elevated hepatic transaminases 7.5% Gastrointestinal hemorrhage 7.5% Inflammatory abnormality of the eye 7.5% Pancreatitis 7.5% Photophobia 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Restrictive lung disease 7.5% Sepsis 7.5% Sudden cardiac death 7.5% Thrombocytopenia 7.5% Visual impairment 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 causes Stevens-Johnson syndrome ? | What causes Stevens-Johnson syndrome? The exact cause of Stevens-Johnson syndrome is unknown in 25 to 30% of cases. In those cases in which the cause can be determined, it is believed to be related to an adverse allergic drug reaction. Almost any drug--but most particularly sulfa drugs--can cause Stevens-Johnson syndrome. The allergic reaction to the drug may not occur until 7-14 days after first using it. Stevens-Johnson syndrome can also be preceded by a viral infection, such as herpes or the mumps. In rare cases, Stevens-Johnson syndrome may be caused by an illness or bone marrow transplantation. | |
What are the treatments for Stevens-Johnson syndrome ? | How might Stevens-Johnson syndrome be treated? Stevens-Johnson syndrome may be difficult to treat.[2147] Patients should be admitted to an intensive care or burn unit as soon as the diagnosis is suspected.[2145][2147] Treatment of severe symptoms may include:[2147] Antibiotics to control any skin infections Corticosteroids to control inflammation Intravenous immunoglobulins (IVIG) to stop the disease process Treatment for the eye may include artificial tears, antibiotics, or corticosteroids.[2144] | |
What is (are) Chronic inflammatory demyelinating polyneuropathy ? | Chronic inflammatory demyelinating polyneuropathy (CIDP) is a neurological disorder that causes progressive weakness and impaired sensory function in the legs and arms. Symptoms often include tingling or numbness (first in the toes and fingers); weakness of the arms and legs; loss of deep tendon reflexes; fatigue; and abnormal sensations. CIDP is thought to be caused by an abnormal immune response in which the immune system mistakenly attacks and damages the myelin sheath (the covering that protects nerve fibers) of the peripheral nerves. CIDP is closely related to Guillain-Barre syndrome (GBS) and is considered the "chronic counterpart" of GBS. Treatment may include corticosteroids, immunosuppressant drugs, plasma exchange, physiotherapy, and/or intravenous immunoglobulin (IVIG) therapy. | |
What are the symptoms of Chronic inflammatory demyelinating polyneuropathy ? | What are the signs and symptoms of Chronic inflammatory demyelinating polyneuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Chronic inflammatory demyelinating polyneuropathy. 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 demyelinating polyneuropathy - 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 Chronic inflammatory demyelinating polyneuropathy ? | What causes chronic inflammatory demyelinating polyneuropathy (CIDP)? The exact underlying cause of CIDP is unknown, but there is evidence to support that it is related to the immune system and may have multiple triggers. It is thought to be caused by an abnormal immune response in which the immune system mistakenly attacks and damages the myelin sheath (the covering that protects nerve fibers) of the peripheral nerves. However, no specific provoking antigens or other predisposing factors for CIDP have been identified. In several case reports, treatment with tumor necrosis factor-alpha inhibitors has been associated with the subsequent development of chronic demyelinating neuropathies. | |
Is Chronic inflammatory demyelinating polyneuropathy inherited ? | Is chronic inflammatory demyelinating polyneuropathy (CIDP) inherited? CIDP is not known to be inherited and is considered an acquired disorder. No clear genetic predisposition or other predisposing factors for CIDP have been identified. | |
What are the treatments for Chronic inflammatory demyelinating polyneuropathy ? | How might chronic inflammatory demyelinating polyneuropathy (CIDP) be treated? The standard therapies for CIDP appear to be equally effective and include: intravenous immune globulin (IVIG) - adds large numbers of antibodies to the blood plasma to reduce the effect of the antibodies that are causing the problem glucocorticoids - help reduce inflammation and relieve symptoms plasma exchange - remove antibodies from the blood The treatment choice is influenced by the preference of the affected person, side effects, treatment cost, duration, ease of administration, and availability. Advantages and disadvantages of standard therapies may include the following: IVIG and plasma exchange may lead to a more rapid improvement in CIDP than glucocorticoid therapy, but are less likely than glucocorticoids to produce a remission IVIG is expensive, and its supply is sometimes limited Glucocorticoids are inexpensive, but chronic use is limited by common and important side effects Plasma exchange is expensive, invasive, and available only at specialized centers Other medications that suppress the immune system (immunosuppressants) may also be used. Physiotherapy may improve muscle strength, function and mobility. | |
What is (are) Chromosome 6p deletion ? | Chromosome 6p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Chromosome 6p deletion can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person. | |
What are the symptoms of Camptodactyly syndrome Guadalajara type 3 ? | What are the signs and symptoms of Camptodactyly syndrome Guadalajara type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly syndrome Guadalajara type 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) Abnormality of the pinna - Absent phalangeal crease - Autosomal dominant inheritance - Camptodactyly - Delayed skeletal maturation - Flat face - Hypertelorism - Intellectual disability, mild - Joint contracture of the hand - Malar flattening - Micropenis - Muscular hypotonia - Nevus - Retrognathia - Short neck - Small hypothenar eminence - Small thenar eminence - Spina bifida occulta - Telecanthus - Torticollis - Webbed neck - 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) Proteus-like syndrome ? | Proteus-like syndrome describes people who do not meet the diagnostic criteria for Proteus syndrome but who share many of the characteristic signs and symptoms associated with the condition. Affected people may experience some of the following features: overgrowth of the bones, skin, and other tissues; hamartomas; abnormalities of the skin, blood vessels (vascular tissue) and fat (adipose tissue); and distinctive facial features. Approximately 50% of people with Proteus-like syndrome are found to have changes (mutations) in the PTEN gene. In these cases, the inheritance is autosomal dominant. Treatment is based on the signs and symptoms present in each person. | |
What is (are) Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome ? | Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome is a syndrome that is characterized by the presence of polymicrogyria, megalencephaly, mental retardation, seizures, polydactyly, and hydrocephalus. The cause of the condition is currently unknown. | |
What are the symptoms of Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome ? | What are the symptoms of polymicrogyria? A wide variety of symptoms may be observed in people with polymicrogyria, including: Cognitive deficits Epilepsy Paralysis of the face, throat, and tongue Difficulty with speech Drooling | |
What causes Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome ? | What causes megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome? The cause of MPPH syndrome is unknown. Infection during pregnancy or fetal accident is thought to be unlikely. | |
What is (are) Aberrant subclavian artery ? | Aberrant subclavian artery is a rare vascular anomaly that is present from birth. It usually causes no symptoms and is often discovered as an incidental finding (such as through a barium swallow or echocardiogram). Occasionally the anomaly causes swallowing difficulty (dysphagia lusoria). Swallowing symptoms in children may present as feeding difficulty and/or recurrent respiratory tract infection. When aberrant subclavian artery causes no symptoms, treatment is not needed. If the anomaly is causing significant symptoms, treatment may involve surgery. Children with symptomatic aberrant subclavian artery should be carefully evaluated for additional vascular and heart anomalies. | |
What is (are) Henoch-Schonlein purpura ? | Henoch-Schonlein purpura (HSP) is a disease that involves purple spots on the skin (purpura), joint pain, digestive problems, and glomerulonephritis (a type of kidney disorder). While the cause of this condition is not fully understood, it may develop as an immune response to an infection. HSP is usually seen in children, but it may affect people of any age. Most cases go away on their own without treatment. For those cases which require treatment, the main goal is to relieve symptoms such as joint pain, abdominal pain, or swelling. In many cases, over-the-counter medicines can be used. In some patients with severe arthritis, prednisone, a steroid medicine, may be prescribed. | |
What are the symptoms of Henoch-Schonlein purpura ? | What are the signs and symptoms of Henoch-Schonlein purpura? The Human Phenotype Ontology provides the following list of signs and symptoms for Henoch-Schonlein purpura. 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% Arthralgia 90% Bruising susceptibility 90% Gastrointestinal infarctions 90% Hematuria 90% Nausea and vomiting 90% Pustule 90% Skin rash 90% Vasculitis 90% Abnormal tendon morphology 50% Abnormality of temperature regulation 50% Anorexia 50% Arthritis 50% Encephalitis 50% Migraine 50% Myalgia 50% Orchitis 50% Skin ulcer 50% Edema 7.5% Gastrointestinal hemorrhage 7.5% Glomerulopathy 7.5% Hemiplegia/hemiparesis 7.5% Hypermelanotic macule 7.5% Inflammatory abnormality of the eye 7.5% Muscle weakness 7.5% Optic atrophy 7.5% Proteinuria 7.5% Renal insufficiency 7.5% Restrictive lung disease 7.5% Seizures 7.5% Urticaria 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. | |
Is Henoch-Schonlein purpura inherited ? | Can Henoch-Schonlein purpura be inherited? The cause of Henoch-Schonlein purpura is currently unknown. Some evidence suggests that genetic predisposition may contribute to the development of this disease in some cases. Only a few families with multiple relatives affected by HSP have been reported in the medical literature. The association between particular genes and a slight increase in the chance of developing HSP has not been proven. | |
What are the treatments for Henoch-Schonlein purpura ? | What treatments are available for Henoch-Schonlein purpura? Unfortunately, there is no cure for Henoch-Schonlein purpura (HSP). Treatments aim to relieve the symptoms of this condition. For example, non-steroidal anti-inflammatory drugs (NSAIDs) or corticosteroids (such as prednisone) may be used to relieve pain. If the kidneys are severely affected in an individual with HSP, immunosuppressive medications, such as cyclophosphamide, may be prescribed. In rare cases, individuals with HSP may need to be hospitalized if they experience severe abdominal pain, bleeding from the digestive tract, or kidney problems. | |
What are the symptoms of Spastic paraplegia 6 ? | What are the signs and symptoms of Spastic paraplegia 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Spastic paraplegia 6. 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) Tremor 5% Autosomal dominant inheritance - Babinski sign - Clonus - Degeneration of the lateral corticospinal tracts - Impaired vibration sensation in the lower limbs - Insidious onset - Lower limb muscle weakness - Lower limb spasticity - Pes cavus - Progressive - Seizures - Spastic gait - Spastic paraplegia - Urinary bladder sphincter dysfunction - Urinary incontinence - Urinary urgency - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Arthrogryposis renal dysfunction cholestasis syndrome ? | What are the signs and symptoms of Arthrogryposis renal dysfunction cholestasis syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Arthrogryposis renal dysfunction cholestasis 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 renal tubule 90% Abnormality of thrombocytes 90% Cognitive impairment 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Abnormal renal physiology 50% Abnormality of coagulation 50% Abnormality of temperature regulation 50% Aminoaciduria 50% Diabetes insipidus 50% Hepatomegaly 50% Ichthyosis 50% Malabsorption 50% Muscular hypotonia 50% Oligohydramnios 50% Recurrent fractures 50% Rocker bottom foot 50% Skeletal muscle atrophy 50% Talipes 50% Abnormality of the cardiac septa 7.5% Abnormality of the hip bone 7.5% Abnormality of the palate 7.5% Anemia 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cirrhosis 7.5% Convex nasal ridge 7.5% Cutis laxa 7.5% Depressed nasal bridge 7.5% Hypothyroidism 7.5% Kyphosis 7.5% Nephrolithiasis 7.5% Pectus carinatum 7.5% Sensorineural hearing impairment 7.5% Upslanted palpebral fissure 7.5% Abnormal bleeding 5% Lissencephaly 5% Nephrogenic diabetes insipidus 5% Atria septal defect - Autosomal recessive inheritance - Cholestatic liver disease - Conjugated hyperbilirubinemia - Death in infancy - Dehydration - Elevated hepatic transaminases - Failure to thrive - Giant cell hepatitis - Hip dysplasia - Jaundice - Low-set ears - Metabolic acidosis - Microcephaly - Nephrocalcinosis - Nephropathy - Renal tubular acidosis - Right ventricular hypertrophy - Sloping forehead - Talipes calcaneovalgus - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Spondylometaphyseal dysplasia Algerian type ? | What are the signs and symptoms of Spondylometaphyseal dysplasia Algerian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia Algerian 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) Genu valgum 90% Micromelia 90% Myopia 90% Anterior rib cupping - Autosomal dominant inheritance - Bowed humerus - Carpal bone hypoplasia - Coxa vara - Flared femoral metaphysis - Hypoplasia of proximal radius - Hypoplastic pelvis - Kyphoscoliosis - Lumbar hyperlordosis - Metaphyseal dysplasia - Platyspondyly - Severe short stature - Short sacroiliac notch - Short tubular bones (hand) - Spondylometaphyseal dysplasia - Tibial metaphyseal irregularity - 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 Gracile bone dysplasia ? | What are the signs and symptoms of Gracile bone dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Gracile bone 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% Abnormality of the spleen 90% Bowing of the long bones 90% Decreased skull ossification 90% Micromelia 90% Narrow mouth 90% Recurrent fractures 90% Short philtrum 90% Short stature 90% Skeletal dysplasia 90% Slender long bone 90% Tented upper lip vermilion 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the clavicle 50% Abnormality of the fingernails 50% Abnormality of the helix 50% Abnormality of the metacarpal bones 50% Abnormality of the metaphyses 50% Abnormality of the ribs 50% Anteverted nares 50% Aplasia/Hypoplasia affecting the eye 50% Aplasia/Hypoplasia of the lungs 50% Aplasia/Hypoplasia of the thymus 50% Brachydactyly syndrome 50% Cloverleaf skull 50% Depressed nasal bridge 50% Enlarged thorax 50% Frontal bossing 50% Hypoplasia of penis 50% Intrauterine growth retardation 50% Low-set, posteriorly rotated ears 50% Malar flattening 50% Platyspondyly 50% Renal hypoplasia/aplasia 50% Respiratory insufficiency 50% Short distal phalanx of finger 50% Short nose 50% Short toe 50% Tapered finger 50% Wide nasal bridge 50% Abnormality of neuronal migration 7.5% Abnormality of the fontanelles or cranial sutures 7.5% Aplasia/Hypoplasia involving the nose 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Blepharophimosis 7.5% Blue sclerae 7.5% Cataract 7.5% Cleft palate 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Hepatomegaly 7.5% Hypertelorism 7.5% Hypotelorism 7.5% Iris coloboma 7.5% Microcornea 7.5% Muscular hypotonia 7.5% Oligohydramnios 7.5% Rocker bottom foot 7.5% Upslanted palpebral fissure 7.5% Asplenia 5% Aniridia - Ascites - Autosomal dominant inheritance - Failure to thrive - Flared metaphysis - Hydrocephalus - Hypocalcemia - Hypoplastic spleen - Micropenis - Microphthalmia - Prominent forehead - Seizures - 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) Acromesomelic dysplasia ? | Acromesomelic dysplasia describes a group of extremely rare, inherited, progressive skeletal conditions that result in a particular form of short stature, called short-limb dwarfism. The short stature is the result of unusually short forearms and forelegs (mesomelia) and abnormal shortening of the bones in the hands and feet (acromelia). At birth, the hands and feet may appear abnormally short and broad. Over time, the apparent disproportion becomes even more obvious, especially during the first years of life. Additional features may include: limited extension of the elbows and arms; progressive abnormal curvature of the spine; an enlarged head; and a slightly flattened midface. Acromesomelic dysplasia is inherited as an autosomal recessive trait. There are different types of acromesomelic dysplasia, which are distinguished by their genetic cause. To read more about the different types, click on the links below. Acromesomelic dysplasia, Maroteaux type Acromesomelic dysplasia, Hunter-Thompson type Acromesomelic dysplasia, Grebe type | |
What are the symptoms of Acromesomelic dysplasia ? | What are the signs and symptoms of Acromesomelic dysplasia? Affected infants often have a normal birth weight. In most cases, in addition to having unusually short, broad hands and feet, affected infants often have characteristic facial abnormalities that are apparent at birth. Such features may include a relatively enlarged head, unusually prominent forehead, pronounced back portion of the head (occipital prominence), a slightly flattened midface, and/or an abnormally small, pug nose. During the first years of life, as the forearms, lower legs, hands, and feet do not grow proportionally with the rest of the body, short stature (short-limb dwarfism) begins to become apparent. Over time, affected individuals may be unable to fully extend the arms, rotate the arms inward toward the body with the palms facing down, or rotate the arms outward with the palms facing upward. In some cases, affected individuals may also experience progressive degeneration, stiffness, tenderness, and pain of the elbows (osteoarthritis). Abnormalities of cartilage and bone development may also cause the bones within the fingers, toes, hands, and feet to become increasingly shorter and broader during the first years of life. During the second year of life, the growing ends of these bones may begin to appear abnormally shaped like a cone or a square and may fuse prematurely. This causes the fingers and toes to appear short and stubby. The hands and feet may seem unusually short, broad, and square; and the feet may appear abnormally flat. In early childhood, extra, loose skin may also develop over the fingers. During early childhood, affected individuals may also begin to experience progressive, abnormal curvature of the spine. In rare cases, affected individuals can experience delayed puberty and corneal clouding. The Human Phenotype Ontology provides the following list of signs and symptoms for Acromesomelic 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 form of the vertebral bodies 50% Bowing of the long bones 50% Brachydactyly syndrome 50% Depressed nasal bridge 50% Dolichocephaly 50% Frontal bossing 50% Hyperlordosis 50% Joint hypermobility 50% Kyphosis 50% Limitation of joint mobility 50% Micromelia 50% Scoliosis 50% Short stature 50% Sprengel anomaly 50% Acromesomelia - Autosomal recessive inheritance - Beaking of vertebral bodies - Broad finger - Broad metacarpals - Broad metatarsal - Broad phalanx - Cone-shaped epiphyses of the phalanges of the hand - Disproportionate short stature - Flared metaphysis - Hypoplasia of the radius - Joint laxity - Limited elbow extension - Long hallux - Lower thoracic kyphosis - Lumbar hyperlordosis - Ovoid vertebral bodies - Prominent forehead - Radial bowing - Redundant skin on fingers - Short metacarpal - Short metatarsal - Short nail - Short nose - Thoracolumbar interpediculate narrowness - Thoracolumbar kyphosis - 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) Dihydropyrimidine dehydrogenase deficiency ? | Dihydropyrimidine dehydrogenase (DPD) deficiency is a condition in which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signs and symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner. | |
What are the symptoms of Dihydropyrimidine dehydrogenase deficiency ? | What are the signs and symptoms of Dihydropyrimidine dehydrogenase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dihydropyrimidine 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) Agenesis of corpus callosum 5% Autism - Autosomal recessive inheritance - Cerebral atrophy - Coloboma - Delayed speech and language development - Failure to thrive - Growth delay - Hyperactivity - Hypertonia - Intellectual disability - Lethargy - Microcephaly - Microphthalmia - Motor delay - Muscular hypotonia - Nystagmus - Optic atrophy - Phenotypic variability - Reduced dihydropyrimidine dehydrogenase activity - Seizures - Tetraplegia - 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 Dihydropyrimidine dehydrogenase deficiency ? | What causes dihydropyrimidine dehydrogenase (DPD) deficiency? DPD deficiency is caused by mutations in the DPYD gene. This gene provides instructions for making an enzyme called dihydropyrimidine dehydrogenase (DPD), which is involved in the breakdown of molecules called uracil and thymine. Uracil and thymine are building blocks of DNA, RNA, and molecules that serve as energy sources in cells. Mutations in the DPYD gene result in deficiencies (to various degrees) of functional DPD, interfering with the breakdown of uracil and thymine in cells. This results in excessive amounts of uracil and thymine in the blood, urine, and the fluid that surrounds the brain and spinal cord. It is currently poorly understood exactly how this cascade of events causes the signs and symptoms of the condition. | |
Is Dihydropyrimidine dehydrogenase deficiency inherited ? | How is dihydropyrimidine dehydrogenase deficiency inherited? Dihydropyrimidine dehydrogenase (DPD) deficiency is inherited in an autosomal recessive manner. This means that in affected individuals, both copies of the DPYD gene in each cell (one inherited from each parent) have mutations. The mutations that cause DPD deficiency vary widely in severity; therefore, some people with 2 mutated copies of the gene may have signs and symptoms of the condition, while others may be asymptomatic. However, all individuals with 2 mutations are at risk for toxic reactions to fluoropyrimidine drugs. Individuals who carry one mutated copy of the disease-causing gene (including most parents of affected individuals) are referred to as carriers. Carriers typically do not have signs and symptoms of the condition. However, people with one mutated copy of the DPYD gene may still experience toxic reactions to fluoropyrimidine drugs. When 2 carriers for the same autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each parent, and a 25% risk to not have the condition and not be a carrier. A child of one carrier parent has a 50% risk to also be a carrier. | |
How to diagnose Dihydropyrimidine dehydrogenase deficiency ? | How is dihydropyrimidine dehydrogenase (DPD) deficiency diagnosed? DPD deficiency may be diagnosed in various ways. In individuals with complete or profound DPD deficiency, laboratory testing can detect elevated levels of uracil and/or thymine in plasma or urine. Partial DPD deficiency is more difficult to detect, which has led to the development of a radioenzymatic test for the DPD enzyme. This test has remained the gold standard for diagnosing DPD deficiency even after the development of genetic testing for the condition, because of the complexity of the DPYD gene and the presence of multiple DNA sequence variations present in most affected individuals. Various types of cells and tissues can be examined this way. More recently, a rapid, noninvasive, and cost-effective breath test was developed. This test permits the evaluation of DPD activity (normal activity and partial or profound deficiency) before the administration of fluoropyrmidine drugs such as 5-FU. | |
What are the treatments for Dihydropyrimidine dehydrogenase deficiency ? | How might dihydropyrimidine dehydrogenase deficiency be treated in infants and children? Currently, no treatment or cure exists for the inborn error of metabolism form of DHD deficiency. Symptoms usually remain the same throughout the person's life. | |
What is (are) Mitochondrial neurogastrointestinal encephalopathy syndrome ? | Mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome is a condition that particularly affects the digestive system and nervous system. Signs and symptoms of this condition most often begin by age 20 and worsen with time. Almost all people with MNGIE have gastrointestinal dysmotility, in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently. Affected individuals also experience peripheral neuropathy, droopy eyelids (ptosis), weakness of the muscles that control eye movement (ophthalmoplegia), and hearing loss. Leukoencephalopathy, which is the deterioration of a type of brain tissue known as white matter, is a hallmark of MNGIE; however it does not usually cause symptoms in people with this disorder. Mutations in the TYMP gene cause MNGIE, and this condition is inherited in an autosomal recessive pattern. | |
What are the symptoms of Mitochondrial neurogastrointestinal encephalopathy syndrome ? | What are the signs and symptoms of Mitochondrial neurogastrointestinal encephalopathy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial neurogastrointestinal encephalopathy 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 - Areflexia - Autosomal recessive inheritance - Cachexia - Constipation - Death in early adulthood - Decreased activity of cytochrome C oxidase in muscle tissue - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Gastrointestinal dysmotility - Gastroparesis - Hypointensity of cerebral white matter on MRI - Intermittent diarrhea - Lactic acidosis - Leukoencephalopathy - Malabsorption - Malnutrition - Mitochondrial myopathy - Multiple mitochondrial DNA deletions - Progressive - Progressive external ophthalmoplegia - Ptosis - Ragged-red muscle fibers - Sensorineural hearing impairment - Subsarcolemmal accumulations of abnormally shaped mitochondria - 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. | |
How to diagnose Mitochondrial neurogastrointestinal encephalopathy syndrome ? | How might mitochondrial neurogastrointestinal encephalopathy syndrome be diagnosed? The clinical diagnosis of mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is based on the presence of severe gastrointestinal dysmotility (when the muscles and nerves of the digestive system do not move food through the digestive tract efficiently), cachexia (wasting away of muscle and fat tissue), ptosis, external ophthalmoplegia (weakness in the muscles that control eye movement), sensorimotor neuropathy, asymptomatic leukoencephalopathy (observed on brain MRI), and a family history consistent with autosomal recessive inheritance. Direct evidence of MNGIE syndrome can be provided by one of the following: A blood test showing an increase in plasma thymidine concentration (greater than 3 mol/L) and an increase in plasma deoxyuridine concentration (greater than 5 mol/L). This is sufficient to make the diagnosis of MNGIE disease. Thymidine phosphorylase enzyme activity in leukocytes (white blood cells) less than 10% of the control mean. Genetic testing of TYMP, the gene for thymidine phosphorylase (the enzyme deficient in individuals with MNGIE syndrome), detects mutations in approximately all of affected individuals. | |
What are the treatments for Mitochondrial neurogastrointestinal encephalopathy syndrome ? | How might mitochondrial neurogastrointestinal encephalopathy syndrome be treated? References John M Shoffner. Mitochondrial Neurogastrointestinal Encephalopathy Disease. GeneReviews. May 11, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1179/. Accessed 3/27/2011. | |
What is (are) Intracranial arteriovenous malformation ? | Intracranial arteriovenous malformations (AVMs) are abnormal connections between the arteries and veins in the brain. Most people with brain or spinal AVMs experience few, if any, major symptoms. About 12 percent of people with this condition experience symptoms that vary greatly in severity. Seizures and headaches are the most common symptoms of AVMs but individuals can also experience a wide range of other neurological symptoms. AVMs can cause hemorrhage (bleeding) in the brain, which can be fatal. Symptoms can appear at any age, but are most often noticed when people are in their twenties, thirties, or forties. The cause of AVMs is not yet well understood but it is believed that AVMs result from mistakes that occur during embryonic or fetal development. Medication is used to treat general symptoms such as headache, back pain, and seizures caused by AVMs. However, the best treatment for AVMs is often surgery or sterotactic radiosurgery. | |
What are the symptoms of Keratoderma palmoplantar deafness ? | What are the signs and symptoms of Keratoderma palmoplantar deafness? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoderma palmoplantar deafness. 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% Sensorineural hearing impairment 90% Autosomal dominant inheritance - Hearing impairment - Palmoplantar hyperkeratosis - 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) Microcephalic osteodysplastic primordial dwarfism type 1 ? | Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a genetic condition that is mainly characterized by intrauterine and post-natal growth retardation; an abnormally small head size (microcephaly); abnormal bone growth (skeletal dysplasia); distinctive facial features; and brain anomalies. Other signs and symptoms include sparse hair and eyebrows; dry skin; short limbs; dislocation of the hips and elbows; seizures; and intellectual disability. It is caused by mutations in the RNU4ATAC gene and is inherited in an autosomal recessive manner. Treatment is supportive only. The prognosis is poor with most affected individuals dying within the first year of life. MOPD types 1 and 3 were originally thought to be separate entities, but more recent reports have confirmed that the two forms are part of the same syndrome. | |
What are the symptoms of Microcephalic osteodysplastic primordial dwarfism type 1 ? | What are the signs and symptoms of Microcephalic osteodysplastic primordial dwarfism type 1? Individuals with MOPD1 may have low birth weight, growth retardation, short limbs, broad hands, small head size (microcephaly), abnormal bone growth (skeletal dysplasia) and a distinct facial appearance. Facial characteristics may include a sloping forehead; protruding eyes; prominent nose with a flat nasal bridge; and small jaw (micrognathia). In addition, babies with MOPD1 may experience short episodes of stopped breathing (apnea) and seizures. Affected individuals also commonly have sparse hair and eyebrows; dry skin; dislocation of the hips or elbows; and intellectual disability. Brain abnormalities that have been reported include lissencephaly, hypoplastic (underdeveloped) frontal lobes, and agenesis of the corpus callosum or cerebellar vermis (the nerve tissue that connects the two halves of the cerebellum). The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephalic osteodysplastic primordial dwarfism 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% Abnormal hair quantity 90% Abnormal nasal morphology 90% Abnormal vertebral ossification 90% Abnormality of calcium-phosphate metabolism 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the clavicle 90% Abnormality of the distal phalanx of finger 90% Abnormality of the eyelashes 90% Abnormality of the femur 90% Abnormality of the intervertebral disk 90% Abnormality of the metacarpal bones 90% Abnormality of the metaphyses 90% Abnormality of the upper urinary tract 90% Aplasia/Hypoplasia of the eyebrow 90% Brachydactyly syndrome 90% Cognitive impairment 90% Convex nasal ridge 90% Delayed skeletal maturation 90% Glaucoma 90% Hypertonia 90% Intrauterine growth retardation 90% Large hands 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Micromelia 90% Premature birth 90% Prominent occiput 90% Proptosis 90% Reduced bone mineral density 90% Respiratory insufficiency 90% Seizures 90% Short neck 90% Short stature 90% Single transverse palmar crease 90% Abnormality of the tragus 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Dolichocephaly 50% Hypoplasia of the zygomatic bone 50% Sloping forehead 50% Thick lower lip vermilion 50% Thickened nuchal skin fold 50% 11 pairs of ribs - Abnormality of the pinna - Absent knee epiphyses - Agenesis of cerebellar vermis - Agenesis of corpus callosum - Atria septal defect - Autosomal recessive inheritance - Bowed humerus - Cleft vertebral arch - Coarctation of aorta - Disproportionate short stature - Dry skin - Elbow dislocation - Elbow flexion contracture - Enlarged metaphyses - Failure to thrive - Femoral bowing - Heterotopia - Hip contracture - Hip dislocation - Hyperkeratosis - Hypoplasia of the frontal lobes - Hypoplastic ilia - Intellectual disability - Knee flexion contracture - Long clavicles - Long foot - Low-set ears - Micropenis - Microtia - Oligohydramnios - Pachygyria - Platyspondyly - Prolonged neonatal jaundice - Prominent nose - Renal cyst - Renal hypoplasia - Short femur - Short humerus - Short metacarpal - Shoulder flexion contracture - Small anterior fontanelle - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Stillbirth - Tetralogy of Fallot - 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 Microcephalic osteodysplastic primordial dwarfism type 1 ? | What causes microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1)? Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) has been shown to be caused by mutations in the RNU4ATAC gene. | |
Is Microcephalic osteodysplastic primordial dwarfism type 1 inherited ? | How is microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) inherited? MOPD1 is thought to be inherited in an autosomal recessive manner. This means that affected individuals have abnormal gene changes (mutations) in both copies of the disease-causing gene, with one copy inherited from each parent. The parents who each carry one abnormal copy of the gene are referred to as carriers; carriers typically do not show signs or symptoms of an autosomal recessive condition. When two carriers have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. | |
What are the treatments for Microcephalic osteodysplastic primordial dwarfism type 1 ? | How might microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) be treated? At this time there are no specific treatments for MOPD1. Treatment is generally supportive. The prognosis is poor for affected individuals, with most of the reported patients dying within the first year of life. | |
What are the symptoms of Osteosclerosis with ichthyosis and premature ovarian failure ? | What are the signs and symptoms of Osteosclerosis with ichthyosis and premature ovarian failure? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteosclerosis with ichthyosis and premature ovarian failure. 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) Chorioretinal abnormality 90% Edema of the lower limbs 90% Ichthyosis 90% Increased bone mineral density 90% Secondary amenorrhea 90% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) 15q13.3 microdeletion syndrome ? | 15q13.3 microdeletion syndrome is a type of contiguous gene deletion syndrome. Individuals with this microdeletion may have very different signs and symptoms from other affected individuals (even within the same family), or no symptoms at all. Features of the condition may include mild to moderate mental retardation, learning difficulties, or normal intelligence; autism; epilepsy (recurring seizures); and mental illness (such as schizophrenia or bipolar disorder). Various dysmorphic (abnormally formed) features have been reported, but there are no consistent physical features among individuals who have the condition. It is caused by a tiny deletion (microdeletion) on the long arm of chromosome 15 that spans at least 6 genes; the features of the syndrome are caused by the absence of these genes, which are usually necessary for normal growth and development. It can be inherited in an autosomal dominant manner with reduced penetrance, or can occur as a new (de novo) deletion. Treatment typically focuses on individual signs and symptoms (such as medication for seizures) when possible. | |
What are the symptoms of 15q13.3 microdeletion syndrome ? | What are the signs and symptoms of 15q13.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 15q13.3 microdeletion syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 50% Cognitive impairment 50% Incomplete penetrance 50% Abnormal nasal morphology 7.5% Abnormality of the pinna 7.5% Attention deficit hyperactivity disorder 7.5% Autism 7.5% Clinodactyly of the 5th finger 7.5% Epicanthus 7.5% Frontal bossing 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Melanocytic nevus 7.5% Microcephaly 7.5% Muscular hypotonia 7.5% Seizures 7.5% Short stature 7.5% Strabismus 7.5% Behavioral abnormality 10/19 Muscular hypotonia 9/18 Abnormality of the palpebral fissures 7/19 Intellectual disability, moderate 6/17 Abnormality of the pinna 6/19 Intellectual disability, mild 5/17 Specific learning disability 7/25 Clinodactyly of the 5th finger 4/19 Intellectual disability, severe 3/18 Abnormality of cardiovascular system morphology 3/19 Brachydactyly syndrome 3/19 Hypertelorism 3/19 Strabismus 3/19 Synophrys 3/19 Seizures 2/18 Autosomal dominant inheritance - 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. | |
How to diagnose 15q13.3 microdeletion syndrome ? | Is genetic testing available for 15q13.3 microdeletion syndrome? Genetic testing for 15q13.3 microdeletion testing is available. GeneTests lists the names of laboratories that are performing genetic testing for 15q13.3 microdeletion syndrome. To view the contact information for the clinical laboratories conducting testing click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, individuals who are interested in learning more should work with a health care provider or a genetics professional. Click here for a list of online resources for locating a genetics professional near you. | |
What is (are) Chromosome 6q deletion ? | Chromosome 6q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 6. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 6q deletion include developmental delay, intellectual disability, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person. | |
What are the symptoms of Pyruvate decarboxylase deficiency ? | What are the signs and symptoms of Pyruvate decarboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate decarboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 35% Abnormality of eye movement - Agenesis of corpus callosum - Anteverted nares - Apneic episodes precipitated by illness, fatigue, stress - Basal ganglia cysts - Cerebral atrophy - Choreoathetosis - Chronic lactic acidosis - Decreased activity of the pyruvate dehydrogenase (PDH) complex - Dystonia - Episodic ataxia - Flared nostrils - Frontal bossing - Hyperalaninemia - Increased CSF lactate - Increased serum lactate - Infantile onset - Intellectual disability - Lethargy - Long philtrum - Microcephaly - Muscular hypotonia - Phenotypic variability - Ptosis - Seizures - Severe lactic acidosis - Small for gestational age - Ventriculomegaly - Wide nasal bridge - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Weyers acrofacial dysostosis ? | What are the signs and symptoms of Weyers acrofacial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Weyers acrofacial dysostosis. 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 dental morphology 90% Abnormality of the fingernails 90% Advanced eruption of teeth 90% Hypoplastic toenails 90% Postaxial hand polydactyly 90% Reduced number of teeth 90% Short stature 90% Abnormality of the antihelix 50% Clinodactyly of the 5th finger 50% Facial cleft 50% Short palm 50% Autosomal dominant inheritance - Brachydactyly syndrome - Conical tooth - Hypotelorism - Mild short stature - Nail dysplasia - Postaxial foot polydactyly - Prominent antihelix - Small nail - 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) Thoracic outlet syndrome ? | Thoracic outlet syndrome refers to the many signs and symptoms caused from compression of the group of nerves and blood vessels in the area just above the first rib and behind the clavicle. The term thoracic outlet syndrome is not a specific diagnosis, but refers to a group of conditions, namely neurogenic (nTOS), venous (vTOS), and arterial thoracic outlet syndrome (aTOS). While collectively TOS is not thought to be rare, individual sub-types may be. The most common type (95% of cases) is nTOS which is caused from brachial plexus compression. Symptoms of nTOS include shoulder and arm numbness, abnormal sensations and weakness. vTOS may cause deep vein thrombosis and swelling; and aTOS can cause blood clots, arm pain with exertion, or acute arterial thrombosis (sudden blood flood obstruction in an artery). Diagnosis of TOS can be very difficult and diagnosis is often delayed. Treatment depends on the type of TOS and may include physical therapy, thoracic outlet decompression, thrombolysis or other procedures. | |
What are the symptoms of Thoracic outlet syndrome ? | What are the signs and symptoms of Thoracic outlet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thoracic outlet 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) Paresthesia 90% Abnormality of the ribs 50% Acrocyanosis 50% Arthralgia 50% Edema 50% Muscle weakness 50% Myalgia 50% EMG abnormality 7.5% Flexion contracture 7.5% Thrombophlebitis 7.5% Venous insufficiency 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. | |
Is Thoracic outlet syndrome inherited ? | Are cervical ribs inherited? Cervical ribs are actually thought to be a common trait. It has been estimated that 1 to 2% of the population have a cervical rib. Cervical ribs can affect one or both sides of the neck, and may cause thoracic outlet syndrome by putting pressure on an artery. Currently, the cause of cervical ribs is not known. In general, both genetic and environmental factors are thought to be involved. There have been animal studies investigating the role of HOX genes in causing extra ribs. Studies have also suggested environmental exposures, such as maternal exposure to foreign chemicals or stress during pregnancy could play a role. Further research in this area is needed. There have been rare case reports of families with multiple members with cervical rib. In these families autosomal dominant inheritance was suspected. Click here to learn more about autosomal dominant inheritance. While we were unable to find recurrence risk data that might help inform your loved ones of their risk for cervical rib and thoracic outlet syndrome, we do suggest that your family members let their healthcare provider know of their family medical history. The Surgeon General's Family History Initiative's Family Health Portrait Tool, may be a helpful resource. You can use this tool to collect, record, and share your family health history information. http://www.hhs.gov/familyhistory/ | |
How to diagnose Thoracic outlet syndrome ? | How is thoracic outlet syndrome diagnosed? Diagnosis may include nerve conduction studies, ultrasounds or MRI scans or computed tomographic imaging studies.The diagnosis of neurogenic TOS is especially difficult and may involve many exams, multiple specialist visits, and many different treatments. A number of disorders have symptoms similar to those of TOS, including rotator cuff injuries, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors of the syrinx or spinal cord. These conditions must be ruled out, which may also be difficult. | |
What is (are) Orofaciodigital syndrome 1 ? | Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). This condition also causes polycystic kidney disease. Orofaciodigital syndrome 1 is caused by a change (mutation) in a gene called OFD1 which appears to play an important role in the early development of many parts of the body including the brain, face, limbs, and kidneys. The syndrome is inherited in an X-linked dominant pattern. The diagnosis of OFD1 is sometimes made at birth, but it may be suspected only after polycystic kidney disease is found in later childhood or adulthood. Treatment for OFD1 typically focuses on the symptoms an individual has and may include surgery for cleft lip or palate , other oral abnormalities, or syndactyly (webbing of the fingers or toes). Researchers have identified at least 13 potential forms of orofaciodigital syndromes, which are classified by their patterns of signs and symptoms. OFD1 is the most common form of orofaciodigital syndrome and differs from the other types mainly by its association with polycystic kidney disease. | |
What are the symptoms of Orofaciodigital syndrome 1 ? | What are the signs and symptoms of Orofaciodigital syndrome 1? Oral features of OFD1 may include a split (lobed) tongue, benign tumors of the tongue, cleft palate, hypodontia (missing teeth), or other dental abnormalities. Facial features may include hypertelorism (increased width between the eyes), a small nose, micrognathia (small jaw) and other features. The fingers and toes may be short (brachydactyly), webbed or joined together (syndactyly), abnormally curved (clinodactyly), or have other abnormalities. There may be brain abnormalities (such as cysts) and kidney problems (such as polycystic kidney disease). About half of individuals with OFD1 have some degree of learning disability, which is usually mild. Almost all individuals with OFD1 are female. The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 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) Bifid tongue 90% Broad alveolar ridges 90% Cleft upper lip 90% Frontal bossing 90% Hypertelorism 90% Wide nasal bridge 90% Abnormality of the nares 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Cognitive impairment 50% Cone-shaped epiphysis 50% Facial asymmetry 50% Finger syndactyly 50% Foot polydactyly 50% Incoordination 50% Reduced bone mineral density 50% Reduced number of teeth 50% Seizures 50% Short toe 50% Underdeveloped nasal alae 50% Pancreatic cysts 29% Abnormality of dental enamel 7.5% Alopecia 7.5% Aneurysm 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Brachydactyly syndrome 7.5% Choanal atresia 7.5% Coarse hair 7.5% Cystic liver disease 7.5% Dandy-Walker malformation 7.5% Dental malocclusion 7.5% Dry skin 7.5% Elevated hepatic transaminases 7.5% Epicanthus 7.5% Exocrine pancreatic insufficiency 7.5% Hearing impairment 7.5% Hypertension 7.5% Hypoplasia of the zygomatic bone 7.5% Lip pit 7.5% Multicystic kidney dysplasia 7.5% Odontogenic neoplasm 7.5% Otitis media 7.5% Postaxial hand polydactyly 7.5% Preaxial hand polydactyly 7.5% Proteinuria 7.5% Renal insufficiency 7.5% Tarsal synostosis 7.5% Telecanthus 7.5% Tremor 7.5% Myelomeningocele 5% Abnormal cortical gyration - Abnormal heart morphology - Abnormality of the cerebellum - Abnormality of toe - Agenesis of corpus callosum - Agenesis of permanent teeth - Alveolar ridge overgrowth - Arachnoid cyst - Carious teeth - Clinodactyly - Congenital onset - Gray matter heterotopias - Hepatic cysts - Hepatic fibrosis - High palate - Hydrocephalus - Hypoplasia of dental enamel - Hypothalamic hamartoma - Increased number of teeth - Intellectual disability - Lobulated tongue - Low-set ears - Median cleft lip - Microcephaly - Microretrognathia - Milia - Ovarian cyst - Polycystic kidney dysplasia - Polydactyly - Porencephaly - Radial deviation of finger - Short stature - Sparse hair - Syndactyly - Tongue nodules - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
How to diagnose Orofaciodigital syndrome 1 ? | Is genetic testing available for orofaciodigital syndrome 1 (OFD1)? Genetic testing for orofaciodigital syndrome 1 is clinically available. OFD1 is the only gene currently known to be associated with this condition. Testing is often used to confirm or establish the diagnosis in an individual when OFD1 is suspected. A change (mutation) in the OFD1 gene is detected in up to 85% of individuals who have OFD1. You can find laboratories offering clinical genetic testing for OFD1 on a website called GeneTests. To see a listing of clinical testing laboratories click here. GeneTests does not currently list laboratories doing research testing for OFD1. | |
What are the symptoms of Short limb dwarf lethal Colavita Kozlowski type ? | What are the signs and symptoms of Short limb dwarf lethal Colavita Kozlowski type? The Human Phenotype Ontology provides the following list of signs and symptoms for Short limb dwarf lethal Colavita Kozlowski 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) Abnormal cortical bone morphology 90% Abnormality of the mandible 90% Bowing of the long bones 90% Advanced eruption of teeth 50% Osteomyelitis 50% Reduced bone mineral density 50% Recurrent fractures 7.5% Scoliosis 7.5% Autosomal dominant inheritance - Diaphyseal cortical sclerosis - Increased susceptibility to fractures - Osteopenia - 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) Citrullinemia type I ? | Citrullinemia type I is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. This condition, also known as classic citrullinemia, belongs to a class of genetic diseases called urea cycle disorders. In most cases, the condition becomes evident in the first few days of life. Affected infants typically appear normal at birth, but as ammonia builds up in the body they experience a progressive lack of energy (lethargy), poor feeding, vomiting, seizures, and loss of consciousness. Citrullinemia type I is caused by mutations in the ASS1 gene. It is inherited in an autosomal recessive pattern. |
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