Question: What are the symptoms of Curry Jones syndrome ?
Answer: What are the signs and symptoms of Curry Jones syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Curry Jones 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) Finger syndactyly 90% Hypertelorism 90% Hypopigmented skin patches 90% Abnormality of thumb phalanx 50% Aplasia/Hypoplasia affecting the eye 50% Aplasia/Hypoplasia of the corpus callosum 50% Aplasia/Hypoplasia of the skin 50% Cognitive impairment 50% Craniosynostosis 50% Facial asymmetry 50% Foot polydactyly 50% Hypertrichosis 50% Preaxial hand polydactyly 50% Toe syndactyly 50% Ventriculomegaly 50% Chorioretinal coloboma 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Optic nerve coloboma 7.5% Abnormality of the skin - Agenesis of corpus callosum - Anal stenosis - Blepharophimosis - Coloboma - Microphthalmia - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD