Question: What are the symptoms of Encephalocraniocutaneous lipomatosis ?
Answer: What are the signs and symptoms of Encephalocraniocutaneous lipomatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Encephalocraniocutaneous lipomatosis. 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% Cognitive impairment 90% Multiple lipomas 90% Retinopathy 90% Seizures 90% Abnormality of the tricuspid valve 50% Aplasia/Hypoplasia of the corpus callosum 50% Bone cyst 50% Cerebral calcification 50% Cerebral cortical atrophy 50% Craniofacial hyperostosis 50% Hypertonia 50% Iris coloboma 50% Macrocephaly 50% Neoplasm of the skeletal system 50% Neurological speech impairment 50% Opacification of the corneal stroma 50% Osteolysis 50% Pulmonary hypertension 50% Ventriculomegaly 50% Visceral angiomatosis 50% Abnormality of the aorta 7.5% Hemiplegia/hemiparesis 7.5% Neoplasm of the nervous system 7.5% Skeletal dysplasia 7.5% Abnormality of the anterior chamber - Agenesis of corpus callosum - Arachnoid cyst - Atria septal defect - Cerebellar hypoplasia - Cleft eyelid - Cortical dysplasia - Cryptorchidism - Dandy-Walker malformation - Epibulbar dermoid - Hydrocephalus - Hydronephrosis - Hypoplasia of the corpus callosum - Hypoplasia of the iris - Linear hyperpigmentation - Lipoma - Lipomas of the central neryous system - Microphthalmia - Pelvic kidney - Peripheral pulmonary artery stenosis - Sclerocornea - Subaortic stenosis - Subcutaneous lipoma - 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.
Source: GARD