Clinical Characteristics for Families

Affected individuals have short stature and may present with joint dislocations involving hips, knees and elbows. Degenerative changes are also seen at the end of long bones which result in arthritis and joint restriction. Clubfoot may also be seen. Changes in spine may lead to deformity of spine. Some individuals may also have defect in heart and hearing. Atlanto axial dislocation resulting in serious problems has also been reported.