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Humero-radial synostosis

Disease definition

Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.

ORPHA:3265

Classification level: Disorder
  • Synonym(s):
    • Humero-radial fusion
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q74.0
  • OMIM: 143050  236400
  • UMLS: C0431800
  • MeSH: -
  • GARD: 2748
  • MedDRA: -
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