X-linked spondyloepimetaphyseal 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.

Disease data

Classification

Disease

ORPHA code

93349

OMIM code

300106

ICD10 code

Q77.7

ICD11 code

*Soruce