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Spondyloepimetaphyseal dysplasia, Missouri type

Disease definition

Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.

ORPHA:93356

Classification level: Disorder
  • Synonym(s):
    • SEMD type 2
    • SEMD, Missouri type
    • Spondyloepimetaphyseal dysplasia type 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: Q77.7
  • OMIM: 602111
  • UMLS: C1865832
  • MeSH: -
  • GARD: 10618
  • MedDRA: -
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