Question: What are the symptoms of Oculomaxillofacial dysostosis ?
Answer: What are the signs and symptoms of Oculomaxillofacial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculomaxillofacial dysostosis. 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 50% Abnormality of the teeth 50% Aplasia/Hypoplasia of the eyebrow 50% Cleft palate 50% Facial cleft 50% Median cleft lip 50% Opacification of the corneal stroma 50% Short stature 50% Underdeveloped nasal alae 50% Upslanted palpebral fissure 50% Wide nasal bridge 50% Abnormality of the humerus 7.5% Adducted thumb 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Brachydactyly syndrome 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Coloboma 5% Deep palmar crease 5% Abnormality of the skeletal system - Autosomal recessive inheritance - Cleft upper lip - 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