National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Madelung deformity

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.[1][2][3] In addition to the abnormal growth, there is also an abnormal palmar (Vickers’ ligament) that is thought to contribute to the deformity.[3] 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.[3][4][5] Treatment may include medication, wrist splints and devices that reduce the pain, and surgical correction of the deformity.[6] 
Last updated: 9/8/2017

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

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  • PubMed is a searchable database of medical literature and lists journal articles that discuss Madelung deformity. Click on the link to view a sample search on this topic.

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  1. Madelung Deformity in Children. Boston Children's Hospital. 2016; http://www.childrenshospital.org/conditions-and-treatments/conditions/madelungs-deformity.
  2. Heath K. Madelung deformity. Orphanet. November 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=35688.
  3. Knutsen EJ & Goldfarb CA. Madelung’s Deformity. Hand. 2014; 9(3):289-291. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4152440/.
  4. Flanagan SF, Munns CFJ, Hayes M et al. Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood. BMJ. 38(10):http://jmg.bmj.com/content/39/10/758.full.
  5. Léri-Weill dyschondrosteosis. Orphanet. 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=240.
  6. Lamberti PM. Madelung Deformity. Medscape Reference. June 02, 2016; http://emedicine.medscape.com/article/1260002-overview#a7.