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Spondyloepimetaphyseal dysplasia, Irapa type

Disease definition

Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.


Classification level: Disorder
  • Synonym(s):
    • SEMD, Irapa type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q77.7
  • ICD-11: LD24.3
  • OMIM: 271650
  • UMLS: C0432213
  • MeSH: C562958
  • GARD: -
  • MedDRA: -
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