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Kniest dysplasia

Disease definition

Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

ORPHA:485

  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q77.7
  • OMIM: 156550
  • UMLS: C0265279
  • MeSH: C537207
  • GARD: 6841
  • MedDRA: -
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