Orphanet: X linked spondyloepimetaphyseal dysplasia
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X-linked spondyloepimetaphyseal dysplasia

Disease 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.

ORPHA:93349

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: -
  • Inheritance: X-linked recessive 
  • Age of onset: -
  • ICD-10: Q77.7
  • OMIM: 300106
  • UMLS: C1848097
  • MeSH: -
  • GARD: 4979
  • MedDRA: -
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