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Up to: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability · Otospondylomegaepiphyseal dysplasia
Otospondylomegaepiphyseal dysplasia, autosomal dominant
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.
This condition has no sub-types.