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What is (are) D-2-alpha hydroxyglutaric aciduria ? | D-2-alpha hydroxyglutaric aciduria is an inherited metabolic condition that is associated with progressive brain damage. Signs and symptoms of this condition include developmental delay, seizures, hypotonia, and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. D-2-alpha hydroxyglutaric aciduria is caused by changes (mutations) in the D2HGDH gene and is inherited in an autosomal recessive manner. Treatment is focused on alleviating the signs and symptoms of the condition, such as medications to control seizures. | |
What are the symptoms of D-2-alpha hydroxyglutaric aciduria ? | What are the signs and symptoms of D-2-alpha hydroxyglutaric aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for D-2-alpha hydroxyglutaric aciduria. 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) Aortic regurgitation - Apnea - Autosomal recessive inheritance - Cardiomyopathy - D-2-hydroxyglutaric aciduria - Delayed CNS myelination - Dilation of lateral ventricles - Episodic vomiting - Frontal bossing - Glutaric aciduria - Infantile encephalopathy - Inspiratory stridor - Intellectual disability - Macrocephaly - Multifocal cerebral white matter abnormalities - Muscle weakness - Muscular hypotonia - Prominent forehead - Seizures - Subependymal cysts - 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 Ring chromosome 10 ? | What are the signs and symptoms of Ring chromosome 10? The Human Phenotype Ontology provides the following list of signs and symptoms for Ring chromosome 10. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the antihelix 90% Abnormality of the nipple 90% Abnormality of the nose 90% Aganglionic megacolon 90% Aplasia/Hypoplasia affecting the eye 90% Cognitive impairment 90% Decreased body weight 90% Frontal bossing 90% Hypertelorism 90% Hypocalcemia 90% Intrauterine growth retardation 90% Large earlobe 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Muscular hypotonia 90% Pectus excavatum 90% Renal hypoplasia/aplasia 90% Sandal gap 90% Seizures 90% Short neck 90% Tapered finger 90% Thin vermilion border 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) Benign hereditary chorea ? | Benign hereditary chorea (BHC) is a rare movement disorder that begins in infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can have normal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion. | |
What are the symptoms of Benign hereditary chorea ? | What are the signs and symptoms of Benign hereditary chorea? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign hereditary chorea. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Dysarthria 7.5% Anxiety - Autosomal dominant inheritance - Chorea - Juvenile onset - Motor delay - Phenotypic variability - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Congenital contractural arachnodactyly ? | Congenital contractural arachnodactyly (CCA) is a genetic disorder that is typically characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; "crumpled"-looking ears, and curvature of the spine (kyphoscoliosis). Other features might also be present and vary from person to person. CCA is caused by mutations in a gene called FBN2 gene and is inherited in an autosomal dominant pattern. CCA shares similiar signs and symptoms to Marfan syndrome; however, Marfan syndrome is not caused by mutations in the FBN2 gene. | |
What are the symptoms of Congenital contractural arachnodactyly ? | What are the signs and symptoms of Congenital contractural arachnodactyly? Congenital contractural arachnodactyly represents a broad spectrum of characteristics. The features are quite variable, both within and between families. The classic form is characterized by a Marfan-like appearance (tall and slender with arm span exceeding height), arachnodactyly (long slender fingers and toes), 'crumpled' ears, contractures of major joints from birth (particularly knees, elbows, fingers, toes, and hips), bowed long bones, muscular hypoplasia (underdeveloped muscles), kyphosis/scoliosis, aortic root dilation, and various craniofacial abnormalities (such as micrognathia, high arched palate, scaphocephaly (premature fusion of the sagittal suture of the skull leading to a long, narrow head), brachycephaly (premature fusion of the coronal suture, leading to a short skull), and frontal bossing). At the most severe end of the spectrum is a rare type with very few reported cases. In addition to the typical skeletal findings (arachnodactyly, joint contractures, scoliosis) and abnormally shaped ears, infants with the severe/lethal form have multiple cardiovascular and gastrointestinal abnormalities. The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital contractural arachnodactyly. 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 helix 90% Abnormality of the palate 90% Arachnodactyly 90% Camptodactyly of finger 90% Disproportionate tall stature 90% External ear malformation 90% Elbow flexion contracture 86% Knee flexion contracture 81% Crumpled ear 78% Kyphoscoliosis 45% Talipes equinovarus 32% Hip contracture 25% Abnormality of the mitral valve 7.5% Aortic dilatation 7.5% Duodenal stenosis 7.5% Ectopia lentis 7.5% Intestinal malrotation 7.5% Tracheoesophageal fistula 7.5% Adducted thumb - Aortic root dilatation - Atria septal defect - Autosomal dominant inheritance - Bicuspid aortic valve - Brachycephaly - Calf muscle hypoplasia - Congenital kyphoscoliosis - Distal arthrogryposis - Dolichocephaly - Frontal bossing - High palate - Mitral regurgitation - Mitral valve prolapse - Motor delay - Myopia - Osteopenia - Patellar dislocation - Patellar subluxation - Patent ductus arteriosus - Pectus carinatum - Short neck - Ulnar deviation of finger - 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 causes Congenital contractural arachnodactyly ? | What causes congenital contractural arachnodactyly? Congenital contractural arachnodactyly is caused by mutations in the FBN2 gene. The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue. Additionally, microfibrils hold molecules called growth factors and release them at the appropriate time to control the growth and repair of tissues and organs throughout the body. A mutation in the FBN2 gene can reduce the amount and/or quality of fibrillin-2 that is available to form microfibrils. As a result, decreased microfibril formation weakens the elastic fibers and allows growth factors to be released inappropriately, causing tall stature, deformities of the fingers and toes, and other characteristic features of congenital contractural arachnodactyly. | |
Is Congenital contractural arachnodactyly inherited ? | How is congenital contractural arachnodactyly inherited? This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from an affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family. | |
What are the treatments for Congenital contractural arachnodactyly ? | How might congenital contractural arachnodactyly be treated? Physical therapy for joint contractures helps increase joint mobility and ameliorate the effects of muscle hypoplasia (usually in the calf muscles). In severe cases, surgical release may be necessary. Since the kyphosis/scoliosis tends to be progressive, bracing and/or surgical correction is often needed. Consultation with an orthopedist is encouraged. Other symptoms, if present, should be addressed as they arise and in the standard manner. Regular physician visits should be scheduled to monitor symptom progression and development. | |
What are the symptoms of Poikiloderma with neutropenia ? | What are the signs and symptoms of Poikiloderma with neutropenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Poikiloderma with neutropenia. 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) Hypertelorism 5% Hypoplasia of midface 5% Malar flattening 5% Autosomal recessive inheritance - Blepharitis - Conjunctivitis - Neutropenia - Poikiloderma - Recurrent otitis media - Recurrent pneumonia - 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 Onychodystrophy-anonychia ? | What are the signs and symptoms of Onychodystrophy-anonychia? The Human Phenotype Ontology provides the following list of signs and symptoms for Onychodystrophy-anonychia. 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) Tapered distal phalanges of finger 5% Anonychia - Autosomal dominant inheritance - Congenital hip dislocation - Nail dysplasia - Nail dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Chromoblastomycosis ? | Chromoblastomycosis is a chronic fungal infection characterized by raised and crusted lesions which affect the skin and subcutaneous tissue. It most often occurs on the limbs, but can affect any area of the body. Chromoblastomycosis is caused by several fungi found in soil, wood, and decaying plant material. It usually enters the skin through a minor injury such as a splinter. It is most common in areas with tropical and subtropical climates. Treatment of chromoblastomycosis may include medications like itraconazole and flucytosine, cryotherapy, or surgery. | |
What are the symptoms of Game Friedman Paradice syndrome ? | What are the signs and symptoms of Game Friedman Paradice syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Game Friedman Paradice 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) Aqueductal stenosis 90% Intestinal malrotation 90% Intrauterine growth retardation 90% Omphalocele 90% Abnormal vertebral ossification 7.5% Abnormality of the fibula 7.5% Abnormality of the ribs 7.5% Cerebral calcification 7.5% Splenomegaly 7.5% Upslanted palpebral fissure 7.5% Abnormality of the foot - Autosomal recessive inheritance - Hydrocephalus - Pulmonary hypoplasia - Short lower limbs - Tibial bowing - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Epidermolysis bullosa simplex, Dowling-Meara type ? | What are the signs and symptoms of Epidermolysis bullosa simplex, Dowling-Meara type? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa simplex, Dowling-Meara 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 blistering of the skin 90% Abnormality of the fingernails 90% Subcutaneous hemorrhage 90% Palmoplantar keratoderma 50% Skin ulcer 50% Abnormality of skin pigmentation 7.5% Abnormality of the oral cavity 7.5% Constipation 7.5% Feeding difficulties in infancy 7.5% Neoplasm of the skin 7.5% Atrophic scars 5% Autosomal dominant inheritance - Growth delay - Milia - Nail dysplasia - Nail dystrophy - Neonatal onset - 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) Myelofibrosis ? | Myelofibrosis is a disorder of the bone marrow, in which the marrow is replaced by fibrous (scar) tissue. Scarring of the bone marrow causes anemia, which can lead to fatigue and weakness, as well as pooling of the blood in abnormal sites like the liver and spleen, causing these organs to swell. Although myelofibrosis can occur at any age, it typically develops after the age of 50. In most cases, myelofibrosis gets progressively worse. Treatment is aimed at relieving signs and symptoms and may include medications, blood transfusions, chemotherapy, radiation therapy and surgery. | |
What are the symptoms of Myelofibrosis ? | What are the signs and symptoms of Myelofibrosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Myelofibrosis. 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 - Myelofibrosis - Myeloproliferative disorder - 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) Buschke Lowenstein tumor ? | Buschke Lowenstein tumor is a tumor that most commonly occurs near the penis or anus. This tumor often looks like a large genital wart; it tends to grow slowly, but can sometimes grow very large and spread into surrounding tissues. These tumors rarely spread to other parts of the body. Treatment of these tumors begins with removal by surgery. Chemotherapy and radiation therapy have also been shown to be effective treatments for this tumor type. | |
What are the symptoms of Microcephaly cervical spine fusion anomalies ? | What are the signs and symptoms of Microcephaly cervical spine fusion anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephaly cervical spine fusion anomalies. 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 ribs 90% Cognitive impairment 90% Convex nasal ridge 90% Hyperlordosis 90% Hypoplasia of the zygomatic bone 90% Kyphosis 90% Low-set, posteriorly rotated ears 90% Malar prominence 90% Microcephaly 90% Pectus excavatum 90% Proptosis 90% Short stature 90% Sloping forehead 90% Vertebral segmentation defect 90% Abnormality of dental morphology 50% Abnormality of the clavicle 50% Abnormality of the hip bone 50% Abnormality of the ureter 50% Displacement of the external urethral meatus 50% Hyperreflexia 50% Neurological speech impairment 50% Ptosis 50% Short neck 50% Autosomal recessive inheritance - Intellectual disability - Spinal cord compression - Spinal instability - Vertebral fusion - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Myasthenia gravis, limb-girdle ? | What are the signs and symptoms of Myasthenia gravis, limb-girdle? The Human Phenotype Ontology provides the following list of signs and symptoms for Myasthenia gravis, limb-girdle. 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) Adult onset - EMG: decremental response of compound muscle action potential to repetitive nerve stimulation - Fatigable weakness - Hashimoto thyroiditis - Mildly elevated creatine phosphokinase - Neoplasm - Ophthalmoparesis - Proximal amyotrophy - Ptosis - Sporadic - Thymoma - Type 2 muscle fiber atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Epidermolysis bullosa, lethal acantholytic ? | What are the signs and symptoms of Epidermolysis bullosa, lethal acantholytic? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysis bullosa, lethal acantholytic. 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% Advanced eruption of teeth 90% Alopecia 90% Anonychia 90% Skin ulcer 90% Abnormality of the gastric mucosa 7.5% Hypertrophic cardiomyopathy 7.5% Acantholysis - Autosomal recessive inheritance - Mitten deformity - Natal tooth - Neonatal death - Phimosis - Sandal gap - Skin erosion - Tapered distal phalanges of finger - Widely spaced toes - 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 Mitochondrial Membrane Protein-Associated Neurodegeneration ? | What are the signs and symptoms of Mitochondrial Membrane Protein-Associated Neurodegeneration ? The Human Phenotype Ontology provides the following list of signs and symptoms for Mitochondrial Membrane Protein-Associated Neurodegeneration . 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 lower motor neuron morphology - Ataxia - Autosomal recessive inheritance - Babinski sign - Delayed speech and language development - Dementia - Distal amyotrophy - Distal muscle weakness - Dysarthria - Elevated serum creatine phosphokinase - Emotional lability - Gait disturbance - Hyperreflexia - Hyporeflexia - Impulsivity - Lewy bodies - Neurodegeneration - Optic atrophy - Oromandibular dystonia - Parkinsonism - Pes cavus - Phenotypic variability - Progressive - Progressive visual loss - Scapular winging - Spasticity - Tremor - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Alopecia areata ? | Alopecia areata (AA) is an autoimmune disease in which the immune system mistakenly attacks the hair follicles. In most cases, hair falls out in small, round patches on the scalp. Although uncommon, hair loss can be more extensive in some people and affect other parts of the body. This condition can progress to complete loss of scalp hair (alopecia totalis) or total loss of all body hair (alopecia universalis). Although the exact cause of AA is unknown, roughly 20% of affected people have a family member with alopecia, suggesting that genetic factors may contribute to the development of the condition. There is no cure or approved therapy for AA; however, some people find that medications approved for other purposes can help regrow hair. | |
What are the symptoms of Alopecia areata ? | What are the signs and symptoms of Alopecia areata? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia areata. 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) Alopecia areata - Alopecia totalis - Autoimmunity - Multifactorial inheritance - Nail pits - 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 Keratosis palmoplantaris striata 1 ? | What are the signs and symptoms of Keratosis palmoplantaris striata 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis palmoplantaris striata 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) Hyperhidrosis 5% Autosomal dominant inheritance - Palmoplantar keratoderma - Streaks of hyperkeratosis along each finger onto the palm - 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 Cardiomyopathy dilated with woolly hair and keratoderma ? | What are the signs and symptoms of Cardiomyopathy dilated with woolly hair and keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Cardiomyopathy dilated with woolly hair and keratoderma. 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) Hypertrophic cardiomyopathy 90% Palmoplantar keratoderma 90% Woolly hair 90% Abnormal blistering of the skin 7.5% Congestive heart failure 7.5% Ventricular tachycardia 5% Autosomal dominant inheritance - Congenital bullous ichthyosiform erythroderma - Dilated cardiomyopathy - Reduced number of teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Hemorrhagic shock and encephalopathy syndrome ? | Hemorrhagic shock and encephalopathy syndrome (HSES) is a rare disease that occurs suddenly in previously healthy children. This condition is characterized by severe shock, coagulopathy, encephalopathy, and liver and kidney dysfunction. Most cases of HSES occur in infants from age 3 to 8 months, although it can also occur in older children. Individuals with HSES have extremely high body temperatures and multiple organ failures. This condition often causes long term neurological problems or death. The cause of the HSES is unknown.hs | |
What causes Hemorrhagic shock and encephalopathy syndrome ? | What causes hemorrhagic shock and encephalopathy syndrome? The cause of hemorrhagic shock and encephalopathy syndrome is unknown. Some researchers believe that this condition is caused by a complex combination of genetic and environmental factors. Researchers have proposed various factors that may contribute to the development of this condition, including infection, exposure to toxins in the environment, and overwrapping of infants with a fever. Hemorrhagic shock and encephalopathy syndrome has not been reported to be associated with a specific ethnic group or religious background. | |
What is (are) Camurati Engelmann disease, type 2 ? | Camurati-Engelmann disease is a genetic condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence. Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene which is inherited in an autosomal dominant fashion. In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition. In others, features are present, but a mutation cannot be identified. These cases are referred to as Camurati-Engelmann disease type II. Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition. | |
What are the symptoms of Amyotrophic lateral sclerosis type 6 ? | What are the signs and symptoms of Amyotrophic lateral sclerosis type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Amyotrophic lateral sclerosis type 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) Amyotrophic lateral sclerosis - Autosomal dominant inheritance - Fasciculations - Gait disturbance - Hyporeflexia - Neuronal loss in central nervous system - Proximal amyotrophy - 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 Microphthalmia syndromic 6 ? | What are the signs and symptoms of Microphthalmia syndromic 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 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) Aplasia/Hypoplasia affecting the eye 90% Microphthalmia 90% Cataract 50% Chorioretinal coloboma 50% Cognitive impairment 50% Iris coloboma 50% Microcornea 50% Abnormality of the fingernails 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the palate 7.5% Abnormality of the palpebral fissures 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cryptorchidism 7.5% Finger syndactyly 7.5% Microcephaly 7.5% Myopia 7.5% Nystagmus 7.5% Postaxial foot polydactyly 7.5% Proximal placement of thumb 7.5% Sclerocornea 7.5% Seizures 7.5% Sensorineural hearing impairment 7.5% Myopia 3/3 Anophthalmia 9/10 Blindness 8/11 Coloboma 3/5 High palate 3/6 Microcephaly 3/6 Sclerocornea 2/5 Absent speech 2/6 Anterior hypopituitarism 2/6 Aplasia/Hypoplasia of the corpus callosum 3/9 Cryptorchidism 2/6 Failure to thrive 2/6 Hearing impairment 2/6 Microcornea 1/3 Muscular hypotonia 2/6 Nystagmus 1/3 Orbital cyst 1/3 Retinal dystrophy 1/3 Retrognathia 2/6 Ventriculomegaly 3/9 Cerebral cortical atrophy 2/9 Hypothyroidism 2/9 Inferior vermis hypoplasia 2/9 Female hypogonadism 1/5 Preaxial hand polydactyly 2/11 Adrenal hypoplasia 1/6 Bifid scrotum 1/6 Brachycephaly 1/6 Cleft palate 1/6 Hypospadias 1/6 Microglossia 1/6 Micropenis 1/6 Renal hypoplasia 1/6 Small sella turcica 1/6 Cerebellar hypoplasia 1/9 Plagiocephaly 1/9 Abnormality of the cervical spine 1/10 Facial asymmetry 1/10 Lambdoidal craniosynostosis 1/10 Clinodactyly of the 5th finger 1/11 Finger syndactyly 1/11 Flexion contracture of thumb 1/11 Low-set ears 1/11 Posteriorly rotated ears 1/11 Protruding ear 1/11 Short middle phalanx of finger 1/11 Autosomal dominant inheritance - Bifid uvula - Brachydactyly syndrome - Delayed CNS myelination - High forehead - Hypoplasia of midface - Macrotia - Malar flattening - Severe muscular hypotonia - Single transverse palmar crease - Small scrotum - Toe syndactyly - Uplifted earlobe - 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 Salcedo syndrome ? | What are the signs and symptoms of Salcedo syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Salcedo 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) Glomerulopathy 90% Hematuria 90% Hypertension 90% Proteinuria 90% Renal insufficiency 90% Short stature 90% Abnormality of the skeletal system - Autosomal recessive inheritance - Nephropathy - 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) Temporomandibular ankylosis ? | Temporomandibular ankylosis is a condition that occurs when the temporomandibular joint (the joint that connects the jaw to the side of the head) becomes fused by bony or fibrous tissue. As a result, affected people may experience pain, speech impairment, and difficulty chewing and swallowing. It can interfere with nutrition, oral hygiene and the normal growth of the face and/or jaw. Although the condition can be diagnosed in people of all ages, it generally occurs during the first and second decades of life. Temporomandibular ankylosis is most commonly caused by trauma or infection; it may also be associated with certain conditions such as ankylosing spondylitis, rheumatoid arthritis, or psoriasis. The condition is typically treated surgically. | |
What are the symptoms of Fibular hypoplasia and complex brachydactyly ? | What are the signs and symptoms of Fibular hypoplasia and complex brachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Fibular hypoplasia and complex brachydactyly. 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 epiphysis morphology 90% Abnormality of the hip bone 90% Abnormality of the thumb 90% Abnormality of the tibia 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Brachydactyly syndrome 90% Fibular aplasia 90% Limitation of joint mobility 90% Micromelia 90% Narrow nasal bridge 90% Short stature 90% Single transverse palmar crease 90% Synostosis of carpal bones 90% Tarsal synostosis 90% Absent toe 50% Deformed tarsal bones 50% Deviation of finger 50% Malaligned carpal bone 50% Patellar dislocation 50% Short metacarpal 50% Short metatarsal 50% Short phalanx of finger 50% Small nail 50% Rhizomelia 33% Talipes equinovalgus 33% Aplastic/hypoplastic toenail - Autosomal recessive inheritance - Fibular hypoplasia - 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) Juvenile myoclonic epilepsy ? | Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks (quick jerks of the arms or legs), generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning. Seizures can be triggered by lack of sleep, extreme fatigue, stress, or alcohol consumption. Onset typically occurs around adolesence in otherwise healthy children. The exact cause of juvenile myoclonic epilepsy remains unknown, but genetics likely plays a role. Although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good. | |
What causes Juvenile myoclonic epilepsy ? | What causes juvenile myoclonic epilepsy? The exact cause of juvenile myoclonic epilepsy remains unknown. It is not associated with conditions such as head trauma, brain tumor, or encephalitis. Several families have specific mutations in various genes and a complex mode of inheritance. In individuals with juvenile myoclonic epilepsy, symptoms can be precipitated by: Sleep deprivation Psychological stress Alcohol and drug use Noncompliance of medication Photic stimulation Menses Time of day - Usually mornings | |
Is Juvenile myoclonic epilepsy inherited ? | Is juvenile myoclonic epilepsy inherited? If I have juvenile myoclonic epilepsy, will my children also have it? Juvenile myoclonic epilepsy is an inherited disorder (about a third of patients with this condition have a positive family history of epilepsy), but the exact mode of inheritance is not clear. A number of studies have indicated that juvenile myoclonic epilepsy is an autosomal dominant condition (i.e. 50% risk of inheritance). However, it exhibits incomplete penetrance, which means that some individuals who inherit the juvenile myoclonic epilepsy gene or genes do not express clinical juvenile myoclonic epilepsy. The children of these individuals who have the gene but do not exhibit symptoms may still inherit the genes and express clinically observable disease. Due to the complex nature of inheritance with this condition, you may benefit from consulting with a genetics professional. This type of healthcare provider can provide you with additional information about diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Click here to learn more about genetic consultations. | |
What are the treatments for Juvenile myoclonic epilepsy ? | How might juvenile myoclonic epilepsy be treated? Avoidance of precipitating events such as alcohol use and sleep deprivation may be useful but is not sufficient to control the seizures of juvenile myoclonic epilepsy. Medical therapy with anticonvulsants is typically needed and well tolerated. The majority of patients can be well controlled on a single drug, most commonly valproic acid or lamotrigine or possibly topiramate. More details about the medications used to treat juvenile myoclonic epilepsy can be found at the following link. http://emedicine.medscape.com/article/1185061-treatment | |
What is (are) Hereditary sensory neuropathy type 1 ? | Hereditary sensory neuropathy type 1 (HSN1) is a neurological condition characterized by nerve abnormalities in the legs and feet. Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected people do not lose sensation, but instead feel shooting pains in their legs and feet. As HSN1 progresses, sensory problems can affect the hands, arms, shoulders, and abdomen. In rare cases, people with this condition develop sensorineural hearing loss. Symptoms of HSN1 typically begin during a person's teens or twenties and worsen over time. HSN1 is caused by mutations in any of several genes, depending on the form of HSN1 (HSN1A is caused by mutations in the SPTLC1 gene; HSN1B is linked to a gene located in chromosome 3; HSN1C is caused by mutations in the SPTLC2 gene; HSN1D is caused by mutations in the ATL1 gene and HSN1E is caused by mutations in DNMT1 gene. All forms of HSN1 are inherited in an autosomal dominant manner. If symptoms are treated properly, the condition does not appear to affect life expectancy. | |
What are the symptoms of Hereditary sensory neuropathy type 1 ? | What are the signs and symptoms of Hereditary sensory neuropathy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory neuropathy type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Areflexia - Autoamputation (feet) - Autosomal dominant inheritance - Chronic axonal neuropathy - Decreased number of large peripheral myelinated nerve fibers - Decreased sensory nerve conduction velocity - Distal muscle weakness - Distal sensory impairment - Distal sensory loss of all modalities - Hyporeflexia - Osteomyelitis - Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) - Pes cavus - Sensorineural hearing impairment - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
Is Hereditary sensory neuropathy type 1 inherited ? | How is hereditary sensory neuropathy type 1 inherited? Hereditary sensory neuropathy type 1 (HSN1) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated gene from the affected parent. In rare cases, a mutation that causes HSN1 occurs sporadically as a new (de novo) mutation in a person without an affected parent. | |
How to diagnose Hereditary sensory neuropathy type 1 ? | Is genetic testing available for hereditary sensory neuropathy type 1? At least four genes responsible for hereditary sensory neuropathy type 1 (HSN1) have been found: HSN1A (the most common form) is associated with mutations in the SPTLC1 gene HSN1B, reported in a small number of families, is linked to a specific location on chromosome 3, but the exact gene has not yet been identified HSN1C is caused by mutations in the SPTLC2 gene HSN1D is caused by mutations in the ATL1 gene (the same gene is associated with early-onset hereditary spastic paraplegia 3A) HSN1E is caused by mutations in the DNMT1 gene The Genetic Testing Registry (GTR) provides information about genetic testing for HSN1A. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Although the genes for some other types of HSN1 have been identified, we are not aware of clinical laboratories that offer genetic testing for them. A genetics professional may be able to help you locate laboratories that offer testing for other types of HSN1. If the genetic mutation in an affected person has been identified, testing for adult relatives at risk for developing symptoms may be possible. This is called predictive genetic testing. However, this testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression in people who currently don't have symptoms. | |
What are the treatments for Hereditary sensory neuropathy type 1 ? | How might hereditary sensory neuropathy type 1 be treated? Management of hereditary sensory neuropathy type 1 generally follows the guidelines for diabetic foot care, including careful cleansing and protection of wounds and surgical care when needed. Pain medications may be used by those who experience shooting pains. | |
What is (are) Optic atrophy 1 ? | Optic atrophy 1 is a condition that mainly affects vision, but may include other features. Vision loss typically begins within the first decade of life; severity varies widely among affected people (from nearly normal vision to complete blindness), even among members of the same family. Vision problems may include difficulty distinguishing colors, progressive narrowing of the field of vision (tunnel vision) and an abnormally pale appearance (pallor) of the optic nerve. Additional, less common abnormalities may include sensorineural hearing loss, ataxia, myopathy (muscle disease) and other neurological findings. It is usually caused by mutations in the OPA1 gene, although some individuals with optic atrophy 1 do not have identified mutations in this gene, in which case the cause of the condition is unknown. This condition is inherited in an autosomal dominant pattern but some cases result from a new mutation in the gene and occur in people with no history of the disorder in their family. Treatment focuses on individual symptoms when possible. | |
What are the symptoms of Optic atrophy 1 ? | What are the signs and symptoms of Optic atrophy 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 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) Strabismus 10% Horizontal nystagmus 5% Progressive external ophthalmoplegia 48/104 Proximal muscle weakness 37/104 Ataxia 31/104 Abnormal amplitude of pattern reversal visual evoked potentials - Autosomal dominant inheritance - Central scotoma - Centrocecal scotoma - Incomplete penetrance - Insidious onset - Optic atrophy - Red-green dyschromatopsia - Reduced visual acuity - Tritanomaly - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Pontocerebellar hypoplasia type 6 ? | What are the signs and symptoms of Pontocerebellar hypoplasia type 6? The Human Phenotype Ontology provides the following list of signs and symptoms for Pontocerebellar hypoplasia type 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) Apnea - Autosomal recessive inheritance - Cerebellar atrophy - Cerebellar hypoplasia - Cerebral atrophy - Congenital onset - Death in childhood - Deeply set eye - Failure to thrive - Hyperreflexia - Increased CSF lactate - Increased serum lactate - Lower limb spasticity - Muscular hypotonia - Narrow forehead - Narrow palate - Poor head control - Poor suck - Progressive - Progressive microcephaly - Prominent nasal bridge - Seizures - Upper limb spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What are the symptoms of Cataract-microcephaly-failure to thrive-kyphoscoliosis ? | What are the signs and symptoms of Cataract-microcephaly-failure to thrive-kyphoscoliosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract-microcephaly-failure to thrive-kyphoscoliosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the face - Autosomal recessive inheritance - Cataract - Failure to thrive - Hip dislocation - Intellectual disability, progressive - Intellectual disability, severe - Kyphoscoliosis - Microcephaly - Small for gestational age - Spasticity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Medullary cystic kidney disease 1 ? | Medullary cystic kidney disease (MCKD) is a chronic, progressive kidney disease characterized by the presence of small renal cysts that eventually lead to end stage renal failure. Symptoms typically appear at an average age of 28 years and may include polyuria (excessive production or passage of urine) and low urinary osmolality (decreased concentration) in the first morning urine. Later, symptoms of renal insufficiency typically progress to include anemia, metabolic acidosis and uremia. End stage renal disease (ESRD) eventually follows. There are 2 types of MCKD, which are both inherited in an autosomal dominant manner but are caused by mutations in different genes. MCKD 1 is caused by mutations in the MCKD1 gene (which has not yet been identified) and MCKD 2 is caused by mutations in the UMOD gene. The 2 types also differ by MCKD 1 being associated with ESRD at an average age of 62 years, while MCKD 2 is associated with ESRD around 32 years and is more likely to be associated with hyperuricemia and gout. Treatment for MCKD may include correction of water and electrolyte imbalances, and dialysis followed by renal transplantation for end-stage renal failure. | |
What are the symptoms of Medullary cystic kidney disease 1 ? | What are the signs and symptoms of Medullary cystic kidney disease 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Medullary cystic kidney disease 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) Adult onset - Anemia - Autosomal dominant inheritance - Cerebral cortical atrophy - Decreased glomerular filtration rate - Elevated serum creatinine - Glomerulosclerosis - Gout - Hypertension - Hypotension - Impaired renal uric acid clearance - Renal cortical atrophy - Renal corticomedullary cysts - Renal hypoplasia - Renal salt wasting - Stage 5 chronic kidney disease - Tubular atrophy - Tubular basement membrane disintegration - Tubulointerstitial fibrosis - Tubulointerstitial nephritis - 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 Osteopenia and sparse hair ? | What are the signs and symptoms of Osteopenia and sparse hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopenia and sparse hair. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal nasal morphology 90% Cognitive impairment 90% Frontal bossing 90% Hypertelorism 90% Increased bone mineral density 90% Macrocephaly 90% Malar flattening 90% Reduced bone mineral density 90% Joint hypermobility 50% Low-set, posteriorly rotated ears 50% Mandibular prognathia 50% Abnormality of the face - Autosomal recessive inheritance - Intellectual disability - Joint laxity - Muscular hypotonia - Osteopenia - Sparse hair - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What is (are) Coffin-Siris syndrome ? | Coffin-Siris syndrome is a genetic condition that causes variable degrees of learning disability, developmental delays, underdeveloped pinky toenails or fingernails, and distinct facial features. It can be caused by a change (mutation) in any of several genes including the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 genes. Coffin-Siris syndrome follows an autosomal dominant pattern of inheritance, however it usually occurs for the first time in a family due to a new mutation. Occupational, physical, and/or speech therapy can help affected individuals reach their full potential. | |
What are the symptoms of Coffin-Siris syndrome ? | What are the signs and symptoms of Coffin-Siris syndrome? The signs and symptoms of Coffin-Siris syndrome vary. More commonly described symptoms include: Mild to severe intellectual disability Mild to severe speech delay Mild to severe delay in motor skills, such as sitting and walking Underdeveloped fingertips or toes Missing pinky fingernails or toenails Distinctive facial features, such as a wide mouth, thick lips, thick eyelashes and brows, wide nose, and flat nasal bridge Extra hair growth on the face and body Sparse scalp hair Other symptoms that have been described in infants and children with Coffin-Siris syndrome include: Small head size Frequent respiratory infections in infancy Feeding difficulty in infancy Failure to thrive Short stature Low muscle tone Loose joints Eye abnormalities Heart abnormalities Brain abnormalities Kidney abnormalities The Human Phenotype Ontology provides the following list of signs and symptoms for Coffin-Siris 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 eyelashes 90% Abnormality of the teeth 90% Anonychia 90% Coarse facial features 90% Cognitive impairment 90% Feeding difficulties in infancy 90% Hypertrichosis 90% Microcephaly 90% Muscular hypotonia 90% Short distal phalanx of finger 90% Short stature 90% Slow-growing hair 90% Thick eyebrow 90% Thick lower lip vermilion 90% Aplasia/Hypoplasia of the cerebellum 50% Cryptorchidism 50% Dandy-Walker malformation 50% Depressed nasal bridge 50% Depressed nasal ridge 50% Elbow dislocation 50% Hearing impairment 50% Intrauterine growth retardation 50% Joint hypermobility 50% Nystagmus 50% Patellar aplasia 50% Recurrent respiratory infections 50% Scoliosis 50% Seizures 50% Strabismus 50% Wide mouth 50% Abnormal localization of kidney 7.5% Abnormality of the clavicle 7.5% Abnormality of the hip bone 7.5% Abnormality of the intervertebral disk 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Aplastic/hypoplastic toenail 7.5% Cataract 7.5% Cleft palate 7.5% Congenital diaphragmatic hernia 7.5% Cutis marmorata 7.5% Epicanthus 7.5% Kyphosis 7.5% Lacrimation abnormality 7.5% Ptosis 7.5% Renal hypoplasia/aplasia 7.5% Short philtrum 7.5% Single transverse palmar crease 7.5% Spina bifida occulta 7.5% Aggressive behavior - Aplasia of the uterus - Aplasia/Hypoplasia of the patella - Astigmatism - Atria septal defect - Autistic behavior - Autosomal recessive inheritance - Broad nasal tip - Choanal atresia - Coxa valga - Delayed eruption of teeth - Delayed skeletal maturation - Dislocated radial head - Duodenal ulcer - Ectopic kidney - Facial hypertrichosis - Gastric ulcer - Hemangioma - High palate - Hydronephrosis - Hypoplasia of the corpus callosum - Hypoplastic fifth fingernail - Hypospadias - Hypotelorism - Inguinal hernia - Intellectual disability - Intestinal malrotation - Intussusception - Joint laxity - Long eyelashes - Lumbosacral hirsutism - Myopia - Partial agenesis of the corpus callosum - Patent ductus arteriosus - Postnatal growth retardation - Preauricular skin tag - Renal hypoplasia - Sacral dimple - Severe expressive language delay - Short distal phalanx of the 5th finger - Short distal phalanx of the 5th toe - Short sternum - Sparse scalp hair - Tetralogy of Fallot - Umbilical hernia - 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 causes Coffin-Siris syndrome ? | What causes Coffin-Siris syndrome? Coffin-Siris syndrome is caused by a change (mutation) in either the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 gene. Exactly how these gene mutations result in the symptoms of Coffin-Siris syndrome is not known, however it is thought that the mutations affect how genetic material is packaged in the cell. Coffin-Siris syndrome is an autosomal dominant condition; as only one gene mutation is needed to cause the syndrome. It usually occurs for the first time in a family due to a new mutation. In some cases, no genetic mutation can be identified and the cause of Coffin-Siris syndrome in the family remains unknown. | |
How to diagnose Coffin-Siris syndrome ? | How is Coffin-Siris syndrome diagnosed? Diagnosis of Coffin-Siris syndrome is largely based upon the presence or absence of common signs and symptoms in the individual. While formal diagnostic criteria have not been established, most individuals with a clinical diagnosis of Coffin-Siris syndrome have certain features in common. You can find detailed information on this topic at the following link to GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK131811/#coffin-siris.Diagnosis Genetic testing may also be used to diagnose or confirm cases of Coffin-Siris syndrome. | |
What are the treatments for Coffin-Siris syndrome ? | How might Coffin-Siris syndrome be treated? People with Coffin-Siris syndrome may benefit from occupational, physical, and speech therapy. Developmental pediatricians may be helpful in recommending and coordinating therapeutic and educational interventions. Additional specialty care may be needed depending on the symptoms in the individual, such as by gastrointestinal, eye, kidney, heart, and hearing specialists. | |
What is (are) Churg Strauss syndrome ? | Churg Strauss syndrome is a condition characterized by asthma, high levels of eosinophils (a type of white blood cell that helps fight infection), and inflammation of small to medium sized blood vessels (vasculitis). The inflamed vessels can affect various organ systems including the lungs, gastrointestinal tract, skin, heart and nervous system. The exact cause of Churg Strauss syndrome is unknown, but it is thought to be an autoimmune disorder. Treatment may involve the use of glucocorticoids and/or other immunosuppressive therapies. | |
What are the symptoms of Churg Strauss syndrome ? | What are the signs and symptoms of Churg Strauss syndrome? The specific signs and symptoms of Churg Strauss syndrome (CSS) vary from person to person depending on the organ systems involved. The severity, duration and age of onset also vary. CSS is considered to have three distinct phases - prodromal (allergic), eosinophilic and vasculitic - which don't always occur sequentially. Some people do not develop all three phases. The prodromal (or allergic) phase is characterized by various allergic reactions. Affected people may develop asthma (including a cough, wheezing, and shortness of breath); hay fever (allergic rhinitis); and/or repeated episodes of sinusitis. This phase can last from months to many years. Most people develop asthma-like symptoms before any other symptoms. The eosinophilic phase is characterized by accumulation of eosinophils (a specific type of white blood cell) in various tissues of the body - especially the lungs, gastrointestinal tract and skin. The vasculitic phase is characterized by widespread inflammation of various blood vessels (vasculitis). Chronic vasculitis can cause narrowing of blood vessels, which can block or slow blood flow to organs. Inflamed blood vessels can also become thin and fragile (potentially rupturing) or develop a bulge (aneurysm). People with CSS often develop nonspecific symptoms including fatigue, fever, weight loss, night sweats, abdominal pain, and/or joint and muscle pain. Neurological symptoms (such as pain, tingling or numbness) are common and depend on the specific nerves involved. About half of affected people develop skin abnormalities due to accumulation of eosinophils in skin tissue. Symptoms of skin involvement may include purplish skin lesions, a rash with hives, and/or small bumps, especially on the elbows. Gastrointestinal involvement may cause various symptoms also. Heart problems may include inflammation of heart tissues and in severe cases, heart failure. The kidneys can also become involved, eventually causing glomerulonephritis. The Human Phenotype Ontology provides the following list of signs and symptoms for Churg Strauss 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 eosinophils 90% Asthma 90% Autoimmunity 90% Congestive heart failure 90% Polyneuropathy 90% Pulmonary infiltrates 90% Sinusitis 90% Subcutaneous hemorrhage 90% Urticaria 90% Vasculitis 90% Weight loss 90% Abdominal pain 50% Abnormality of the pericardium 50% Abnormality of the pleura 50% Arthralgia 50% Feeding difficulties in infancy 50% Gait disturbance 50% Hematuria 50% Hypertension 50% Hypertrophic cardiomyopathy 50% Hypopigmented skin patches 50% Nausea and vomiting 50% Skin rash 50% Thrombophlebitis 50% Abnormality of temperature regulation 7.5% Abnormality of the endocardium 7.5% Acrocyanosis 7.5% Arthritis 7.5% Cerebral ischemia 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Cutis marmorata 7.5% Glomerulopathy 7.5% Hemiplegia/hemiparesis 7.5% Hemoptysis 7.5% Intestinal obstruction 7.5% Malabsorption 7.5% Myalgia 7.5% Myositis 7.5% Nasal polyposis 7.5% Proteinuria 7.5% Pulmonary embolism 7.5% Renal insufficiency 7.5% Respiratory 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. | |
What is (are) Malignant peripheral nerve sheath tumor ? | A malignant peripheral nerve sheath tumor (MPNST) is a tumor that develops from nerve tissue. The first symptom of MPNST is a lump or mass that increases in size, sometimes causing pain or a tingling sensation. MPNST is considered an aggressive tumor because there is up to a 65% chance of the tumor regrowing after surgery (a recurrence), and approximately 40% chance of spreading to distant parts of the body (a metastasis), most commonly to the lung. Treatment of MPNST begins with surgery to remove as much of the tumor as possible. Radiation therapy may be used to decrease the chance of a recurrence. Chemotherapy might be used if the whole tumor cannot be removed during surgery, or to treat a metastasis. MPNSTs are quite rare, occurring in 0.001% of the general population. Approximately 25-50% of MPNSTs are associated with a genetic condition known as neurofibromatosis type 1. | |
What are the symptoms of Bartter syndrome antenatal type 2 ? | What are the signs and symptoms of Bartter syndrome antenatal type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome antenatal 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) Hypomagnesemia 7.5% Autosomal recessive inheritance - Chondrocalcinosis - Constipation - Dehydration - Diarrhea - Failure to thrive - Fetal polyuria - Fever - Frontal bossing - Generalized muscle weakness - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hypercalciuria - Hyperchloridura - Hyperprostaglandinuria - Hypochloremia - Hypokalemia - Hypokalemic metabolic alkalosis - Hyposthenuria - Impaired platelet aggregation - Increased circulating renin level - Increased serum prostaglandin E2 - Increased urinary potassium - Intellectual disability - Large eyes - Low-to-normal blood pressure - Macrocephaly - Macrotia - Muscle cramps - Nephrocalcinosis - Osteopenia - Paresthesia - Polydipsia - Polyhydramnios - Polyuria - Premature birth - Prominent forehead - Renal juxtaglomerular cell hypertrophy/hyperplasia - Renal potassium wasting - Renal salt wasting - Seizures - Short stature - Small for gestational age - Tetany - Triangular face - 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 is (are) X-linked lymphoproliferative syndrome ? | null | |
What are the symptoms of X-linked lymphoproliferative syndrome ? | What are the signs and symptoms of X-linked lymphoproliferative syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked lymphoproliferative 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) Cellular immunodeficiency 90% Decreased antibody level in blood 50% Hepatomegaly 50% Lymphadenopathy 50% Lymphoma 50% Splenomegaly 50% Anemia 7.5% Fever 9/10 Splenomegaly 9/10 Hepatitis 8/9 Hypertriglyceridemia 7/8 Hypofibrinogenemia 7/8 Increased serum ferritin 7/8 Hemophagocytosis 4/9 Encephalitis - Fulminant hepatitis - Hepatic encephalopathy - IgG deficiency - Immunodeficiency - Increased IgM level - Meningitis - Pancytopenia - Recurrent pharyngitis - Reduced natural killer cell activity - Thrombocytopenia - X-linked inheritance - 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) Andermann syndrome ? | Andermann syndrome (AS) is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Agenesis or malformation of the corpus callosum also occurs in most people with this disorder. Signs and symptoms of the disorder include areflexia; hypotonia; amyotrophy; severe progressive weakness and loss of sensation in the limbs; and tremors. Affected individuals typically begin walking late and lose this ability by their teenage years. Other features may include intellectual disability, seizures, contractures, scoliosis, various psychiatric symptoms, various atypical physical features, and cranial nerve problems that cause facial muscle weakness, ptosis, and difficulty following movements with the eyes (gaze palsy). It is caused by mutations in the SLC12A6 gene and is inherited in an autosomal recessive manner. AS is associated with a shortened life expectancy, but affected individuals typically live into adulthood. | |
What are the symptoms of Andermann syndrome ? | What are the signs and symptoms of Andermann syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Andermann syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 90% Cognitive impairment 90% EEG abnormality 90% Hemiplegia/hemiparesis 90% Microcephaly 90% Seizures 90% Aqueductal stenosis 50% Abnormality of retinal pigmentation 7.5% Craniosynostosis 7.5% Myopia 7.5% Nystagmus 7.5% Strabismus 7.5% 2-3 toe syndactyly - Agenesis of corpus callosum - Areflexia - Autosomal recessive inheritance - Axonal degeneration/regeneration - Brachycephaly - Decreased motor nerve conduction velocity - Decreased sensory nerve conduction velocity - EMG: chronic denervation signs - Facial asymmetry - Facial diplegia - Flexion contracture - Generalized hypotonia - High palate - Hypertelorism - Hypoplasia of the maxilla - Increased CSF protein - Intellectual disability - Limb muscle weakness - Limb tremor - Long face - Low anterior hairline - Macrotia - Motor delay - Motor polyneuropathy - Narrow forehead - Neonatal hypotonia - Onion bulb formation - Peripheral axonal neuropathy - Polyneuropathy - Progressive - Psychosis - Ptosis - Respiratory tract infection - Restrictive respiratory insufficiency - Scoliosis - Sensory neuropathy - Short nose - Skeletal muscle atrophy - Tapered finger - Ventriculomegaly - 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) Punctate inner choroidopathy ? | Punctate inner choroidopathy (PIC) is an inflammatory disorder that primarily affects the choroid of the eye and occurs predominantly in young, nearsighted (myopic) women. Signs and symptoms may include scotomata, blurred vision, photopsias, floaters, photophobia, distorted vision (metamorphopsia), and/or loss of peripheral vision. The majority of cases are self-limited with good visual prognosis, but permanent and severe visual loss can occur as a result of the development of choroidal neovascular membranes (CNV). The cause of PIC is not known, but it is thought to involve both genetic predisposition and environmental factors. The majority of affected individuals who do not have CNV do not require treatment; for others, treatment may include medication, laser photocoagulation, photodynamic therapy (treatment with drugs that become active when exposed to light) and/or surgery. | |
What is (are) Chromosome 4p deletion ? | Chromosome 4p 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 4. 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 4p deletion include developmental delay, intellectual disability, behavioral problems, 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 is (are) Marden-Walker syndrome ? | Marden-Walker syndrome is a connective tissue disorder characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation (a generalized slowing down of physical reactions, movements, and speech). While the underlying cause has not been clearly established, it is believed to be a developmental disorder of the central nervous system which is inherited in an autosomal recessive manner. | |
What are the symptoms of Marden-Walker syndrome ? | What are the signs and symptoms of Marden-Walker syndrome? Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis (a narrowing of the eye opening), small mouth, micrognathia, cleft or high-arched palate, low-set ears, multiple congenital joint contractures (chronic shortening of muscles or tendons around joints), and decreased muscular mass. Additional features may include ptosis, arachnodactyly, camptodactyly (an unusual curvature of the fingers), chest deformities, kyphoscoliosis, and absent deep tendon reflexes. Some individuals have renal anomalies, cardiovascular abnormalities or cerebral malformations. Most signs of Marden-Walker syndrome present in the neonatal period. Disease course is characterized by failure to thrive and psychomotor retardation. Mental retardation generally remains severe, whereas contractures are not progressive and decrease with advancing age and physiotherapy. The Human Phenotype Ontology provides the following list of signs and symptoms for Marden-Walker 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) Arachnodactyly 90% Blepharophimosis 90% Cleft palate 90% Cognitive impairment 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Mask-like facies 90% Microcephaly 90% Muscular hypotonia 90% Narrow mouth 90% Ptosis 90% Radioulnar synostosis 90% Short stature 90% Skeletal muscle atrophy 90% Attention deficit hyperactivity disorder 50% Camptodactyly of finger 50% Intrauterine growth retardation 50% Kyphosis 50% Pectus carinatum 50% Pectus excavatum 50% Scoliosis 50% Abnormal form of the vertebral bodies 7.5% Aplasia/Hypoplasia of the cerebellum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Displacement of the external urethral meatus 7.5% Hydrocephalus 7.5% Multicystic kidney dysplasia 7.5% Pyloric stenosis 7.5% Renal hypoplasia/aplasia 7.5% Situs inversus totalis 7.5% Talipes 7.5% Ventricular septal defect 7.5% Abnormality of the sternum - Agenesis of corpus callosum - Anteverted nares - Autosomal recessive inheritance - Camptodactyly - Cerebellar hypoplasia - Congenital contracture - Cryptorchidism - Dandy-Walker malformation - Decreased muscle mass - Dextrocardia - Epicanthus - Fixed facial expression - High palate - Hypertelorism - Hypoplasia of the brainstem - Hypospadias - Inferior vermis hypoplasia - Inguinal hernia - Intellectual disability - Joint contracture of the hand - Long philtrum - Low-set ears - Micropenis - Microphthalmia - Postnatal growth retardation - Primitive reflexes (palmomental, snout, glabellar) - Pulmonary hypoplasia - Renal hypoplasia - Seizures - Short neck - Strabismus - Talipes equinovarus - Wide anterior fontanel - Zollinger-Ellison syndrome - 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 Marden-Walker syndrome ? | What causes Marden-Walker syndrome? The underlying cause of Marden-Walker syndrome has not been clearly established. It appears to be a developmental disorder of the central nervous system and is likely to be the expression of various heterogeneous diseases. | |
Is Marden-Walker syndrome inherited ? | Is Marden-Walker syndrome inherited? Marden-Walker syndrome is thought to be inherited in an autosomal recessive manner since cases of affected siblings and parental consanguinity (the parents of the child with the condition are related to each other) have been reported. | |
What are the treatments for Marden-Walker syndrome ? | How might Marden-Walker syndrome be treated? Very little information is available regarding the treatment of Marden-Walker syndrome. In general, treatment is symptomatic, with a multidisciplinary approach. The team of providers may include a regular pediatrician, a geneticist, a neurologist, an orthopedist and/or a physical medicine specialist. Special diets and feeding techniques may be of benefit. Early childhood intervention services may help with developmental problems. Other treatments are dependent upon the specific symptoms present in each patient. | |
What is (are) Myotonic dystrophy ? | Myotonic dystrophy is an inherited condition that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person's 20s or 30s. This condition is characterized by progressive muscle loss and weakness, particularly in the lower legs, hands, neck, and face. People with myotonic dystrophy often have prolonged muscle tensing (myotonia) and are not able to relax certain muscles after use. The severity of the condition varies widely among affected people, even among members of the same family. There are two types of myotonic dystrophy: myotonic dystrophy type 1 and myotonic dystrophy type 2. The symptoms in people with myotonic dystrophy type 2 tend to be milder than in those with type 1. Although both types are inherited in an autosomal dominant pattern, they are caused by mutations in different genes. Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 is caused by mutations in the CNBP gene. | |
What are the symptoms of Myotonic dystrophy ? | What are the signs and symptoms of Myotonic dystrophy? Signs and symptoms of myotonic dystrophy often begin in a person's 20s or 30s, but they can begin at any age. Symptoms often include progressive muscle weakness and wasting (particularly in the legs, hands, neck and face); stiffness and tightness of the muscles; cataracts; and cardiac conduction defects (irregular electrical control of the heartbeat). Some affected men also have hormonal changes that may cause balding or infertility. The severity of symptoms can vary widely among affected people. The signs and symptoms of type 1 and type 2 overlap, but type 2 is generally more mild than type 1. People who are born with the condition have congenital myotonic dystrophy, which is a variation of type 1. Congenital myotonic dystophy causes weakness of all muscles, in addition to breathing problems, developmental delays and intellectual disabilities. The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonic dystrophy. 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) Arrhythmia 90% Cataract 90% EMG abnormality 90% Hypertonia 90% Mask-like facies 90% Myotonia 90% Skeletal muscle atrophy 90% Abnormality of the endocrine system 50% Cognitive impairment 50% Facial palsy 50% Muscular hypotonia 50% Respiratory insufficiency 50% Abnormal hair quantity 7.5% Abnormality of the hip bone 7.5% Abnormality of the upper urinary tract 7.5% Cryptorchidism 7.5% Hernia of the abdominal wall 7.5% Hydrocephalus 7.5% Non-midline cleft lip 7.5% Strabismus 7.5% Atrial flutter 4/11 Autosomal dominant inheritance - Cerebral atrophy - Cholelithiasis - Decreased fetal movement - Diabetes mellitus - Dysphagia - Elevated follicle stimulating hormone - Elevated serum creatine phosphokinase - Excessive daytime sleepiness - Facial diplegia - Feeding difficulties in infancy - First degree atrioventricular block - Frontal balding - Hypogonadism - IgG deficiency - IgM deficiency - Insulin insensitivity - Intellectual disability, progressive - Intellectual disability, severe - Iridescent posterior subcapsular cataract - Myalgia - Neck flexor weakness - Obsessive-compulsive trait - Oligospermia - Palpitations - Polyhydramnios - Proximal muscle weakness - Respiratory distress - Tachycardia - Testicular atrophy - Type 2 muscle fiber atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. | |
What causes Myotonic dystrophy ? | What causes myotonic dystrophy? Myotonic dystrophy is caused by mutations called nucleotide repeat expansions in either the DMPK gene (in type 1) or the CNBP gene (in type 2). Nucleotide repeat expansions occur when a piece of DNA is abnormally repeated a number of times, which makes the gene unstable. In myotonic dystrophy, the gene instability leads to a series of events that ultimately prevent cells in muscles and other tissues from acting normally, leading to the features of the condition. The exact functions of these genes in not well understood. The DMPK gene may play a role in communication within cells, specifically in cells of the heart, brain, and skeletal muscles. The CNBP gene gives directions to make a protein found mainly in cells of the heart and skeletal muscles, where it is thought to regulate the activities of other genes. | |
What are the treatments for Myotonic dystrophy ? | What treatment is available for for myotonic dystrophy? There is currently no cure or specific treatment for myotonic dystrophy. Treatment is aimed at managing symptoms and minimizing disability. Routine physical activity appears to help maintain muscle strength and endurance and to control musculoskeletal pain. Canes, braces, walkers and scooters can help as muscle weakness progresses. There are also medications that can lessen the myotonia. Pain management can be achieved through the use of mexilitene, gabapentin, nonsteroidal anti-inflammatory drugs (NSAIDS), low-dose thyroid replacement, low-dose steroids (prednisone), and tricyclic antidepressants. Other symptoms of myotonic dystrophy can also be treated. Heart problems should be followed by a cardiologist, but may be managed through insertion of a pacemaker and regular monitoring of cardiac function. Cataracts can be surgically corrected. | |
What is (are) Binswanger's disease ? | Binswanger's disease is a type of dementia caused by widespread, microscopic areas of damage to the deep layers of white matter in the brain. Most affected people experience progressive memory loss and deterioration of intellectual abilities (dementia); urinary urgency or incontinence; and an abnormally slow, unsteady gait (style of walking). While there is no cure, the progression of Binswanger's disease can be slowed with healthy lifestyle choices. Treatment is based on the signs and symptoms present in each person. | |
What are the symptoms of Binswanger's disease ? | What are the signs and symptoms of Binswanger's disease? The signs and symptoms associated with Binswanger's disease generally disrupt tasks related to "executive cognitive functioning," including short-term memory, organization, mood, the regulation of attention, the ability to make decisions, and appropriate behavior. Binswanger's disease is primarily characterized by psychomotor slowness - an increase in the length of time it takes, for example, for the fingers to turn the thought of a letter into the shape of a letter on a piece of paper. Other symptoms include forgetfulness (but not as severe as the forgetfulness of Alzheimer disease); changes in speech; an unsteady gait; clumsiness or frequent falls; changes in personality or mood (most likely in the form of apathy, irritability, and depression); and urinary symptoms that aren't caused by urological disease. | |
What causes Binswanger's disease ? | What causes Binswanger's disease? Binswanger's disease occurs when the blood vessels that supply the deep structures of the brain become obstructed (blocked). As the arteries become more and more narrowed, the blood supplied by those arteries decreases and brain tissue dies. This can be caused by atherosclerosis, thromboembolism (blood clots) and other diseases such as CADASIL. Risk factors for Binswanger's disease include: Hypertension Smoking Hypercholesterolemia Heart disease Diabetes mellitus | |
Is Binswanger's disease inherited ? | Is Binswanger's disease an inherited condition? Although Binswanger's disease is not considered an inherited condition, genetics may play a role in many of the conditions and risk factors that are associated with the disease (i.e. atherosclerosis, blood clots). | |
How to diagnose Binswanger's disease ? | How is Binswanger's disease diagnosed? A diagnosis of Binswanger's disease is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. This generally consists of imaging studies of the brain (i.e. CT scan and/or MRI scan). | |
What are the treatments for Binswanger's disease ? | How is Binswanger's disease treated? The brain damage associated with Binswanger's disease is not reversible. Treatment is based on the signs and symptoms present in each person. For example, medications may be prescribed to treat depression, agitation, and other symptoms associated with the condition. Successful management of hypertension and diabetes can slow the progression of atherosclerosis, which can delay the progression of Binswanger's disease. | |
What is (are) Spondylothoracic dysostosis ? | Spondylothoracic dysostosis is a rare condition that affects the bones of the spine and the ribs. Signs and symptoms are generally present at birth and may include short-trunk dwarfism (a short body with normal length arms and legs); a small chest cavity; misshapen and abnormally fused vertebrae (bones of the spine); and fused ribs at the part nearest the spine. Affected people may also have life-threatening breathing problems and recurrent lung infections, which can significantly reduce lifespan. Spondylothoracic dysostosis is caused by changes (mutations) in the MESP2 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person and may include surgery for bone malformations and respiratory support. | |
What are the symptoms of Spondylothoracic dysostosis ? | What are the signs and symptoms of spondylothoracic dysostosis? Signs and symptoms of spondylothoracic dysostosis, include spine and vertebral abnormalities which result in a shortened spine, neck, and trunk, as well as rib anomalies including fused ribs which in combination with the spine anomalies result in a "crab-like" appearance to the rib cage. The shortened spine and rib cage anomalies can cause serious breathing problems and recurring lung infections. These complications result in a 32% death rate in early childhood. Other complications of spondylothoracic dysostosis, include shortened stature (due to the spine and vertebral defects) and limited neck motion. Symptom and symptom severity may vary from patient to patient, however symptoms tend to be the worse for children who carry two "E230X" mutations in the MESP2 gene. Most patients with spondylothoracic dysostosis have normal intelligence and neurological problems are infrequent. | |
Is Spondylothoracic dysostosis inherited ? | Is spondylothoracic dysostosis genetic? Yes. Spondylothoracic dysostosis is caused by mutations in the MESP2 gene. It is inherited in an autosomal recessive fashion. | |
What are the treatments for Spondylothoracic dysostosis ? | What treatment is available for spondylothoracic dysostosis? Many infants born with spondylothoracic dysostosis have difficulty breathing due to their small, malformed chests, and therefore are prone to repeated respiratory infections (pneumonia). As the infant grows, the chest is too small to accommodate the growing lungs, and as a result, life threatening complications may develop. Treatment usually consists of intensive medical care, including treatment of respiratory infections, bone surgery, and orthopedic treatment. | |
What are the symptoms of Lassueur-Graham-Little syndrome ? | What are the signs and symptoms of Lassueur-Graham-Little syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Lassueur-Graham-Little 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) Alopecia 90% Hyperkeratosis 90% Lichenification 50% Pruritus 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 is (are) Relapsing polychondritis ? | Relapsing polychondritis (RP) is a rare condition characterized by recurrent inflammation of cartilage and other tissues throughout the body. Cartilage is a tough but flexible tissue that covers the ends of bones at a joint, and gives shape and support to other parts of the body. Ear involvement is the most common feature, but a variety of other areas of the body may be affected, including the costal (rib) cartilage, eyes, nose, airways, heart, vascular (veins) system, skin, joints, kidney, and nervous system. The signs and symptoms vary from person to person depending on which parts of the body are affected. The exact underlying cause of RP is unknown; however, scientists suspect that it is an autoimmune condition. The primary goals of treatment for people with RP are to relieve present symptoms and to preserve the structure of the affected cartilage. | |
What are the symptoms of Relapsing polychondritis ? | What are the signs and symptoms of Relapsing polychondritis? Relapsing polychondritis (RP) is characterized by recurrent inflammation of cartilage (the tough but flexible tissue that covers the ends of bones at a joint) and other tissues throughout the body. The features of the condition and the severity of symptoms vary significantly from person to person, but may include: Ear: The ears are the most commonly affected body part. Symptoms include a sudden onset of pain, swelling, and tenderness of the cartilage of one or both ears. The pinna usually loses firmness and becomes floppy; hearing impairment may also occur. Inflammation of the inner ear may also cause nausea, vomiting, dizziness, and/or ataxia. Joint: The second most common finding is joint pain with or without arthritis. Eye: Affected people may experience episcleritis, uveitis and/or scleritis. Scleritis may lead to a bluish or dark discoloration of the sclera (white of the eye) and may even be associated with vision loss in severe cases. Proptosis (bulging out of one or both eye balls) may also be a symptom of RP. Nose: Nasal cartilage inflammation may lead to stuffiness, crusting, rhinorrhea, epistaxis (nose bleeds), compromised sense of smell and/or saddle nose deformity (a condition where the nose is weakened and thus "saddled" in the middle). Airways: Inflammation may affect the larynx, trachea (windpipe), and bronchi (tubes that branch off the trachea and carry air to the lungs). Airway involvement may lead to a cough, wheezing, hoarseness and recurrent infections. It can become life-threatening if not properly diagnosed and managed. Less commonly, RP may affect the heart, kidneys, nervous system, gastrointestinal tract, and/or vascular (veins) system. Nonspecific symptoms such as fever, weight loss, malaise, and fatigue may also be present. In approximately one third of affected people, RP is associated with other medical problems. Conditions reportedly associated with RP include hematological disease (including Hodgkin's lymphoma and myelodysplastic syndromes); gastrointestinal disorders (including Crohn's disease and ulcerative colitis); endocrine diseases (including diabetes mellitus type 1 and thyroid disorders) and others. Episodes of RP may last a few days or weeks and typically resolve with or without treatment. However, it is generally progressive, and many people have persistent symptoms in between flares. The Human Phenotype Ontology provides the following list of signs and symptoms for Relapsing polychondritis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nose 90% Arthralgia 90% Arthritis 90% Chondritis 90% Chondritis of pinna 90% External ear malformation 90% Abnormality of temperature regulation 50% Abnormality of the aortic valve 50% Abnormality of the pericardium 50% Abnormality of the voice 50% Aneurysm 50% Autoimmunity 50% Cartilage destruction 50% Cataract 50% Dilatation of the ascending aorta 50% Inflammatory abnormality of the eye 50% Limitation of joint mobility 50% Osteolysis 50% Periorbital edema 50% Proptosis 50% Sinusitis 50% Vasculitis 50% Vertigo 50% Abnormality of the endocardium 7.5% Abnormality of the liver 7.5% Abnormality of the mitral valve 7.5% Abnormality of the myocardium 7.5% Abnormality of the oral cavity 7.5% Anemia 7.5% Arrhythmia 7.5% Arterial thrombosis 7.5% Conductive hearing impairment 7.5% Congestive heart failure 7.5% Coronary artery disease 7.5% Cranial nerve paralysis 7.5% Encephalitis 7.5% Gangrene 7.5% Glomerulopathy 7.5% Hematuria 7.5% Hemiplegia/hemiparesis 7.5% Hypermelanotic macule 7.5% Incoordination 7.5% Laryngomalacia 7.5% Myelodysplasia 7.5% Proteinuria 7.5% Recurrent respiratory infections 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Sensorineural hearing impairment 7.5% Skin ulcer 7.5% Subcutaneous hemorrhage 7.5% Thrombophlebitis 7.5% Tinnitus 7.5% Tracheal stenosis 7.5% Tracheomalacia 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. | |
What causes Relapsing polychondritis ? | What causes relapsing polychondritis? The exact underlying cause of relapsing polychondritis (RP) is unknown. However, scientists suspect that it is an autoimmune condition. It it thought that RP occurs when the body's immune system mistakenly attacks its own cartilage and other tissues. In general, autoimmune conditions are complex traits that are associated with the effects of multiple genes in combination with lifestyle and environmental factors. There is also evidence to suggest that some people may be born with a genetic susceptibility to RP. Studies have found that people with RP are roughly twice as likely as those without this condition to carry a certain genetic allele called HLA-DR4. "HLA" stands for human leukocyte antigen, which is an important part of our immune system and plays a role in resistance and predisposition (risk) to disease. However, HLA genes are not solely responsible for specific diseases but instead may simply contribute along with other genetic or environmental factors to disease risk. Thus, many people with HLA-DR4 will never develop RP. | |
Is Relapsing polychondritis inherited ? | Is relapsing polychondritis inherited? Relapsing polychondritis (RP) is not passed through families in a clear-cut fashion. Most people with relapsing polychondritis do not have affected relatives. Like many other autoimmune conditions, RP is likely a multifactorial condition which is associated with the effects of multiple genes in combination with lifestyle and environmental factors. In general, having a first degree relative (for example a parent, child, or sibling) with an autoimmune condition may increase your personal risk for developing an autoimmune condition. Unfortunately, no specific risk estimates are available for relapsing polychondritis. | |
How to diagnose Relapsing polychondritis ? | How is relapsing polychondritis diagnosed? There are no tests available that are specific for relapsing polychondritis (RP). A diagnosis is, therefore, generally based on the presence of characteristic signs and symptoms. For example, people may be diagnosed as having RP if they have three or more of the following features: Inflammation of the cartilage of both ears Seronegative (negative for rheumatoid factor) polyarthritis (arthritis that involves 5 or more joints simultaneously) Inflammation of the cartilage of the nose Eye inflammation (conjunctivitis, episcleritis, scleritis, and/or uveitis) Inflammation of the cartilage of the airway Vestibular dysfunction (i.e. vertigo, hearing loss, tinnitus) In some cases, a biopsy of affected tissue may be necessary to support the diagnosis. | |
What are the treatments for Relapsing polychondritis ? | How might relapsing polychondritis be treated? The primary goals of treatment for people with relapsing polychondritis (RP) are to relieve present symptoms and to preserve the structure of the affected cartilage. The main treatment for RP is corticosteroid therapy with prednisone to decrease the severity, frequency and duration of relapses. Higher doses are generally given during flares, while lower doses can typically be prescribed during periods of remission. Other medications reported to control symptoms include dapsone, colchicine, azathioprine, methotrexate, cyclophosphamide, hydroxychloroquine, cyclosporine and infliximab. People who develop severe heart or respiratory complications may require surgery. More detailed information about the management of RP is available on Medscape Reference's Web site and can be viewed by clicking here. | |
What is (are) Stenotrophomonas maltophilia infection ? | Stenotrophomonas maltophilia (S. maltophilia) infection is a healthcare-associated bacterial infection caused by S. maltophilia bacteria. These bacteria typically colonize (live in or on) areas of the body without causing infection. However, people who are hospitalized and receiving treatment for other conditions may be susceptible to infection, especially those with severely impaired immune systems. Factors that increase the risk for S. maltophilia infection include admission to an intensive care unit, prolonged hospitalization, HIV infection, cancer, cystic fibrosis, neutropenia, recent surgery, trauma, mechanical ventilation, and previous therapy with broad-spectrum antibiotics (medications that target a wide range of bacteria). S. maltophilia bacteria are resistant to many types of antibiotics; however, most strains can be treated with trimethoprim-sulfamethoxazole treatment. | |
What are the symptoms of Stenotrophomonas maltophilia infection ? | What are the signs and symptoms of Stenotrophomonas maltophilia infection? S. maltophilia bacteria usually colonize (live in or on) areas of the body without causing infection. In these cases, people have no signs or symptoms of a bacterial infection. When present, the features of Stenotrophomonas maltophilia (S. maltophilia) infections are generally related to the organ system(s) involved. The most common manifestations are pneumonia and bacteremia. Less commonly, people infected by S. maltophilia may experience endocarditis, mastoiditis, peritonitis, meningitis, soft tissue infections, wound infections, urinary tract infections, and/or eye infections. | |
What causes Stenotrophomonas maltophilia infection ? | What causes Stenotrophomonas maltophilia infection? Stenotrophomonas maltophilia (S. maltophilia) infections are caused by the S. maltophilia bacteria. These bacteria live in various aquatic (water-based) environments. In a hospital setting, they are able to survive and multiply in fluids such as respiratory secretions, urine, and intravenous (IV) fluids. Most healthy people do not get S. maltophilia infections. However, people who are hospitalized and receiving treatment for other conditions may be susceptible to these infections, especially those with severely impaired immune systems. Factors that increase the risk for S. maltophilia infection include admission to an intensive care unit, prolonged hospitalization, HIV infection, cancer, cystic fibrosis, neutropenia, recent surgery, trauma, mechanical ventilation, and previous therapy with broad-spectrum antibiotics (medications that target a wide range of bacteria). | |
How to diagnose Stenotrophomonas maltophilia infection ? | How is Stenotrophomonas maltophilia infection diagnosed? Stenotrophomonas maltophilia (S. maltophilia) infection is usually diagnosed by examining a small sample of blood, mucus, and/or urine. When an infection is suspected, possible sites of infection including wounds, intravenous (vein) catheters, urinary catheters, and breathing machines should also be tested for the presence of S. maltophilia bacteria. | |
What are the treatments for Stenotrophomonas maltophilia infection ? | How might Stenotrophomonas maltophilia infection be treated? Stenotrophomonas maltophilia (S. maltophilia) bacteria are usually resistant to many antibiotics. The recommended therapy is trimethoprim-sulfamethoxazole (also called co-trimoxazole, or TMP-SMX). If this medication can not be used, a variety of other antibiotics may be considered. Combination therapy may be necessary in life-threatening cases. The duration of therapy largely depends on the site of infection. More detailed information about medications used to treat S. maltophilia infection is available in Medscape Reference and can be viewed by clicking here. This information is intended for informational purposes only. People seeking treatment for S. maltophilia infection should consult with their health care provider. | |
What is (are) Hashimoto's encephalitis ? | Hashimoto's encephalitis (HE) is a condition characterized by onset of confusion with altered level of consciousness; seizures; and jerking of muscles (myoclonus). Psychosis, including visual hallucinations and paranoid delusions, has also been reported. The exact cause of HE is not known, but may involve an autoimmune or inflammatory abnormality. It is associated with Hashimoto's thyroiditis, but the nature of the relationship between the two conditions is unclear. Most people with HE respond well to corticosteroid therapy or other immunosuppressive therapies, and symptoms typically improve or resolve over a few months. | |
What are the symptoms of Hashimoto's encephalitis ? | What are the signs and symptoms of Hashimoto's encephalitis? The symptoms of Hashimoto's encephalitis can vary among affected people. They most often include sudden or subacute onset of confusion with alteration of consciousness. Some affected people have multiple, recurrent episodes of neurological deficits with cognitive dysfunction. Others experience a more progressive course characterized by slowly progressive cognitive impairment with dementia, confusion, hallucinations, or sleepiness. In some cases, rapid deterioration to coma can occur. In addition to confusion and mental status changes, symptoms may include seizures and myoclonus (muscle jerking) or tremor. Psychosis, including visual hallucinations and paranoid delusions, has also been reported. | |
What causes Hashimoto's encephalitis ? | What causes Hashimoto's encephalitis? The exact cause of Hashimoto's encephalitis (HE) is unknown, but is thought to relate to autoimmune or other autoinflammatory processes. While it is associated with Hashimoto's thyroiditis, the exact nature of the relationship between the two conditions is unclear. It does not appear to be directly related to hypothyroidism or hyperthyroidism. | |
Is Hashimoto's encephalitis inherited ? | Is Hashimoto's encephalitis inherited? We are aware of only one instance when more than one person in the same family had Hashimoto's encephalitis (HE). To our knowledge, no other cases of familial HE have been reported; HE typically occurs in people with no family history of the condition (sporadically). HE can occur in association with other autoimmune disorders, so HE may develop due to an interaction between genes that predispose a person (susceptibility genes) and environmental triggers. |
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