Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Definition
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, heterozygous OSMED, heterozygous otospondylomegaepiphyseal dysplasia, OSMED, Heterozygous, OSMEDA, otospondylomegaepiphyseal dysplasia, autosomal dominant, 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, Pierre Robin syndrome with foetal chondrodysplasia, Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly, Pierre Robin syndrome-fetal chondrodysplasia syndrome, Stickler syndrome caused by mutation in COL11A2, Stickler syndrome, non-ocular type, Stickler syndrome, type 3, STICKLER syndrome, type III, Stickler syndrome, type III, formerly, STL3, Weissenbacher-Zweymuller syndrome, WZS — per MONDO