Question: What are the symptoms of Oculoectodermal syndrome ?
Answer: What are the signs and symptoms of Oculoectodermal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculoectodermal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the corpus callosum 90% Aplasia/Hypoplasia of the skin 90% Epibulbar dermoid 90% Generalized hyperpigmentation 90% Abnormality of the cardiovascular system 50% Aganglionic megacolon 50% Anteverted nares 50% Blepharophimosis 50% Brachydactyly syndrome 50% Epicanthus 50% Hearing abnormality 50% Laryngeal atresia 50% Macrocephaly 50% Muscular hypotonia 50% Polyhydramnios 50% Proptosis 50% Short nose 50% Strabismus 50% Telecanthus 50% Abnormal facial shape 7.5% Cleft eyelid 7.5% Displacement of the external urethral meatus 7.5% Arachnoid cyst 5% Astigmatism 5% Depressed nasal bridge 5% Opacification of the corneal stroma 5% Parietal bossing 5% Wide nasal bridge 5% Anisometropia - Aplasia cutis congenita - Autosomal dominant inheritance - Bladder exstrophy - Coarctation of aorta - Epidermal nevus - Growth delay - Hyperactivity - Hyperpigmentation of the skin - Lower limb asymmetry - Lymphedema - Phenotypic variability - Seizures - Transient ischemic attack - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD