Recessive multiple epiphyseal dysplasia

EDM4; Epiphyseal dysplasia, multiple, 4; Multiple epiphyseal dysplasia, autosomal recessive; rMED

Recessive multiple epiphyseal dysplasia is a disorder of cartilage and bone development. This condition has relatively mild signs and symptoms, including joint pain that usually begins in late childhood; malformations of the hands, feet, and knees; and abnormal curvature of the spine (scoliosis). Some affected individuals are born with an inward- and downward-turning foot (a clubfoot). An abnormality of the kneecap called a double-layered patella is also relatively common. Although some peop ...