Oto-spondylo-megaepiphyseal dysplasia

Definition:

Otospondylomegaepiphyseal dysplasia (OSMED) is a very rare disorder due to mutations of type XI collagen. It could be either of autosomal dominant or recessive etiology. OSMED is characterized by typical facial features, short extremities, enlarged thick epiphyses and abnormalities in vertebral bodies, and non-progressive sensorineural hearing loss.

References:

[1]. Samia A Temtamy, et al. Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene. Am J Med Genet A. 2006 Jun 1;140(11):1189-95. [Content Brief]

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