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Familial articular hypermobility syndrome

Disease definition

A rare genetic disease characterized by generalized joint laxity leading to recurrent dislocation of major joints, such as the hip (often with congenital hip dislocation), shoulder, elbow, or patella. Patients often experience muscle and joint pain (sometimes with effusion) and may develop degenerative joint changes at a relatively early age. Skin abnormalities are absent.

ORPHA:2295

Classification level: Disorder
  • Synonym(s):
    • 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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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.