Otospondylomegaepiphyseal dysplasia
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Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features.[1] 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).
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Otospondylomegaepiphyseal dysplasia | |
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Otospondylomegaepiphyseal dysplasia has an autosomal recessive pattern of inheritance. | |
Specialty | Medical genetics |
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The features of OSMED are similar to those of another skeletal disorder, Weissenbacher-Zweymüller syndrome. Otospondylomegaepiphyseal dysplasia is a subtype of collagenopathy, types II and XI.