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Definition

An autosomal dominant form of otospondylomegaepiphyseal dysplasia, a disorder characterized by sensorineural deafness, enlarged epiphyses, mild platyspondyly, and disproportionate shortness of the limbs. Total body length is normal. Typical facial features are mid-face hypoplasia, short upturned nose and depressed nasal bridge. Most patients have Pierre Robin sequence including an opening in the roof of the mouth (cleft palate) and a small lower jaw (micrognathia). Ocular symptoms are absent. Some patients have early-onset osteoarthritis.

Acronym

OSMEDA

Synonyms

Heterozygous OSMED
Pierre Robin syndrome with fetal chondrodysplasia
Stickler-like syndrome
Stickler syndrome 3
Stickler syndrome non-ocular type
Stickler syndrome type III
STL3
Weissenbacher-Zweymueller syndrome
WZS

Keywords

Deafness
Stickler syndrome