/joint laxity, familial

joint laxity, familial

Rare Disease

MONDO:0007842

Also Known As

EDS XIEhlers-Danlos syndrome type 11, formerlyJoint instability syndromefamilial joint instability syndromefamilial joint laxityjoint laxity, familialEDS 11 (formerly)EDS XiEDS Xi, formerlyEDS11EDS11, formerlyEhlers-Danlos syndrome, type 11 (formerly)Ehlers-Danlos syndrome, type XiEhlers-Danlos syndrome, type Xi, formerlyarticular hypermobility syndrome

Definition

A type of Ehlers-Danlos syndrome characterized 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.