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Spondyloepiphyseal dysplasia tarda

Disease definition

Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.

ORPHA:93284

  • Synonym(s): -
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive 
  • Age of onset: Adolescent, Adult
  • ICD-10: Q77.7
  • OMIM: 184100  271600  313400
  • UMLS: -
  • MeSH: -
  • GARD: 10624
  • MedDRA: -

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