Spondyloepimetaphyseal dysplasia X-linked

Alternate names

SEMDX; SEMD X-linked; Spondylo-epimetaphyseal dysplasia

Definition

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.

NIH genetic and rare disease info

NIH info on Spondyloepimetaphyseal dysplasia X-linked

Spondyloepimetaphyseal dysplasia X-linked is a rare disease.

Resources

Frequently asked questions

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Spondyloepimetaphyseal dysplasia X-linked
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