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
Spondyloepimetaphyseal dysplasia X-linked is a rare disease.
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