Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome

Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome is characterized by severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopaenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.

0 clinical trials for this condition and its sub-types, 0 tagged with Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome itself.