Madelungs Deformity

 

If your child has been diagnosed with Madelung deformity (also known at Madelung's Deformity), we at Boston Children’s Hospital will do everything we can to treat her — and you — with sensitivity and support.

Here are some of the basics of Madelung deformity:

Madelung deformity is an arm condition that results in a malaligned wrist — the joint where the two long bones of the forearm (the radius and ulna) meet the carpal bones of the hand.

  • Madelung is a congenital condition, meaning that it’s something your child was born with, but it often doesn’t show up until pre- or early adolescence.
  • Girls are more often affected than boys.
  • Most of the time, the condition affects both of a child’s wrists.
  • Signs and symptoms can include:
    • limited range of motion (ROM) in wrist
    • wrist pain
    • visible changes in the appearance of the wrist
  • The condition is usually diagnosed when a child is between 8 and 14 years old, although the condition can become apparent earlier.
  • Diagnosis is usually confirmed by a physical exam and x-rays.
  • For children with no symptoms and only a minor bump, observation and monitoring may be all that is needed. But more severe Madelung may be treated by surgery, and there are several surgical approaches.
  • While surgery corrects the deformity, it can come back, especially in younger children. Boston Children’s doctors use several strategies to reduce the risk of recurrence.

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.

How 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

How Boston Children’s Hospital approaches Madelung deformity

You can have peace of mind knowing that the skilled experts in our Hand and Orthopedic Upper Extremity Program have treated thousands of babies and children with many arm and hand problems that range from the simple to the highly complex, including world-class treatment for Madelung deformity. We provide expert diagnosis, treatment, and care, and we benefit from our advanced clinical and scientific research.