X-linked spondyloepimetaphyseal dysplasia

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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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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X-linked spondyloepimetaphyseal dysplasia?

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Clinical Trials

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