Otospondylomegaepiphyseal Dysplasia

Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. The name of the condition indicates that it affects hearing (oto-) and the bones of the spine (spondylo-), and enlarges the ends of bones (megaepiphyses).

The features of OSMED are similar to those of another skeletal disorder, Weissenbacher-Zweym├╝ller syndrome. Otospondylomegaepiphyseal dysplasia is a subtype of collagenopathy, types II and XI.

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