Rare Ophthalmology News

Disease Profile

Madelung deformity

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

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Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Summary

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 midto 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] 

Learn more

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

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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.

References

  1. Madelung Deformity in Children. Boston Children's Hospital. 2016; https://www.childrenshospital.org/conditions-and-treatments/conditions/madelungs-deformity.
  2. Heath K. Madelung deformity. Orphanet. November 2009; https://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):https://jmg.bmj.com/content/39/10/758.full.
  5. Léri-Weill dyschondrosteosis. Orphanet. 2009; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=240.
  6. Lamberti PM. Madelung Deformity. Medscape Reference. June 02, 2016; https://emedicine.medscape.com/article/1260002-overview#a7.