Symptoms and Causes of Madelung Deformity

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What is Madelung deformity?

Madelung is a rare congenital condition in which the wrist grows abnormally. Part of radius, one of the bones of the forearm, stops growing early. The other forearm bone, the ulna, keeps growing and can dislocate, forming a bump. Other bones can be affected as well, and the hand ends up rotated and lower than the forearm. Movement of the hand and elbow are not affected.

Madelung deformity can occur:

   •    by itself (in isolation) without any pattern or genetic association
   •    in association with certain genetic syndromes, such as Leri-Weill mesomelic dwarfism
        (dyschondrosteosis) or Turner syndrome

Note: This website mainly discusses the condition in isolation, rather than as associated with a genetic syndrome.

Madelung deformity is a congenital conditionHow common is Madelung deformity?

Madelung is not a common condition. While exact numbers are not known, in one recent study it was found that among a sample of 1,476 patients with congenital hand and upper limb differences, Madelung has accounted for only about 1.7 percent of cases.

Causes of Madelung deformity

Researchers don’t really know what causes Madelung Some researchers believe that the condition is due to an abnormal growth plate at the end of the radius and/or an abnormal ligament connecting the end of the radius to the small bones of the wrist.

Girls are more often affected than boys. Researchers believe that this is probably due to mutation in a gene (the SHOX homeobox gene) on the X chromosome.

Madelung can occur in association with certain genetic syndromes, such as Leri-Weill mesomelic dwarfism (dyschondrosteosis) or Turner syndrome.

Signs and symptoms

Signs and symptoms of your child’s condition can range from a just a slight protrusion of the lower end of the ulna to a complete dislocation of the wrist. Other indications can include:

   •    Limits to wrist range of motion (ROM)—can range from minor to major
   •    Pain—chronic or following activity involving the wrist joint
   •    Visible difference in the wrist

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