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.

Also known as: COL11A2 Stickler syndrome, OSMED, Heterozygous, OSMED, heterozygous, OSMEDA, Pierre Robin sequence-fetal chondrodysplasia syndrome, Pierre Robin syndrome with fetal chondrodysplasia, Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly

0 clinical trials for this condition and its sub-types, 0 tagged with Otospondylomegaepiphyseal dysplasia, autosomal dominant itself.