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Familial articular hypermobility syndrome

ORPHA:2295· ICD-10 Q79.6

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.

Prevalence
Unknown
Inheritance
Autosomal dominant
Age of onset
Adolescent, Childhood, Infancy