Madelung deformity

Disease Overview

Madelung deformity (MD) is a rare congenital (present from birth) condition in which the wrist grows abnormally and part of the radius, one of the bones of the forearms, stops growing early and is short and bowed. The other forearm bone, the ulna, keeps growing and can dislocate, forming a bump. Symptoms typically develop in mid- to late-childhood or early adolescence (around 6 to 13 years of age) and usually affect both wrists. It is more commonly observed in females. Symptoms include a decreased range of motion in the wrist, pain, and a visible difference in the appearance of the wrist.[13778][13779][13780] In addition to the abnormal growth, there is also an abnormal palmar (Vickers’ ligament) that is thought to contribute to the deformity.[13780] MD seems to be caused by a combination of both genetic and acquired factors (such as following a trauma or overuse of the joint). MD can also occur as part of another conditions. Leri Weill dyschondrosteosis, characterized by bilateral Madelung deformity and short stature with short arms and legs, is caused by mutations or losses of genetic material involving the SHOX gene. Some cases of isolated MD may be caused by alterations in the SHOX gene.[13780][13781][13783] Treatment may include medication, wrist splints and devices that reduce the pain, and surgical correction of the deformity.[13782]