Question: What are the symptoms of Gorlin Chaudhry Moss syndrome ?
Answer: What are the signs and symptoms of Gorlin Chaudhry Moss syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gorlin Chaudhry Moss 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 foot 90% Abnormality of the metacarpal bones 90% Coarse hair 90% Cognitive impairment 90% Conductive hearing impairment 90% Craniosynostosis 90% Hypertelorism 90% Hypertrichosis 90% Low anterior hairline 90% Nystagmus 90% Reduced number of teeth 90% Short stature 90% Abnormality of bone mineral density 50% Aplasia/Hypoplasia involving the nose 50% Astigmatism 50% Patent ductus arteriosus 50% Sclerocornea 50% Umbilical hernia 50% Cleft eyelid 7.5% Anonychia 5% Bifid nasal tip 5% Cutaneous syndactyly 5% Low posterior hairline 5% Small nail 5% Synophrys 5% Autosomal recessive inheritance - Brachycephaly - Coronal craniosynostosis - Dental malocclusion - High palate - Hypermetropia - Hypodontia - Hypoplasia of midface - Hypoplasia of the maxilla - Hypoplastic labia majora - Malar flattening - Microdontia - Microphthalmia - Narrow palate - Posteriorly rotated ears - Ptosis - Short distal phalanx of finger - Short distal phalanx of toe - Small palpebral fissure - Underdeveloped supraorbital ridges - Upper eyelid coloboma - 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