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Spondylometaphyseal dysplasia, Schmidt type

Disease definition

Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.

ORPHA:93316

Classification level: Disorder
  • Synonym(s):
    • Spondylometaphyseal dysplasia with severe genu valgum
    • Spondylometaphyseal dysplasia, Algerian type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: Q77.8
  • OMIM: 184253
  • UMLS: C1866688
  • MeSH: -
  • GARD: 504
  • MedDRA: -
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