Spondyloepimetaphyseal dysplasia X-linked

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.

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Last updated: 4/1/2018

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