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Ehlers-Danlos syndrome type 11

Disease definition

Ehlers-Danlos syndrome, type 11, is characterised by generalized joint hypermobility often complicated by dislocation of major joints, particularly the shoulder but in some cases the kneecap. Congenital hip dislocation has also been frequently reported. The syndrome has been described in several families. It is transmitted as an autosomal dominant trait, with high penetrance.

ORPHA:2295

  • Synonym(s):
    • EDS XI
    • Familial joint instability syndrome
    • Familial joint laxity
    • Joint instability syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adolescent, Infancy, Childhood
  • ICD-10: Q79.6
  • OMIM: 147900
  • UMLS: C0268349
  • MeSH: -
  • GARD: 3054
  • MedDRA: -

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