Joint Laxity, Familial

Clinical Features

Carter and Sweetnam (1960) noted dominant inheritance in several families that suffered from recurrent dislocation of joints, particularly the shoulder, caused by joint laxity. Other dominant pedigrees were referred to by McKusick (1972). Horton et al. (1980) reported a large family in which many members had joint laxity and of these most also had congenital hip dislocation and some patella dislocation. No chemical studies of collagen were reported. The disorder was indistinguishable from that in the families of Carter and Sweetnam (1960), Beighton and Horan (1970), and others.

Nomenclature

Horton (1982) agreed that in terms of differential diagnosis this disorder can conveniently be considered a form of the Ehlers-Danlos syndrome; arbitrarily the next number to be assigned is XI. It was the recommendation of a workshop convened in Berlin by Beighton (1986) that the Ehlers-Danlos designation be used for joint hypermobility with skin changes (EDS3; 130020), leaving this as a separate category. In connection with this recommendation, the number EDS XI will be retired (in the manner that MPS V and clotting factor IV were retired as the knowledge concerning them advanced).