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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Brachydactyly type B


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Overview

What is brachydactyly type B?

How is brachydactyly type B inherited?

What is brachydactyly type B?

Brachydactyly type B is a very rare genetic condition characterized by disproportionately short fingers and toes. The ends of the second and fifth fingers are usually underdeveloped with complete absence of the fingernails. The thumb bones are always intact but are frequently flattened and/or split. The feet are usually similarly affected, but less severely. Other features that may be present include webbed fingers (syndactyly) and fusion of the joints (symphalangism) and bones in the hands and feet. Only a few cases have been reported in the literature. This condition is caused by mutations in the ROR2 gene. Most cases have been shown to be inherited in an autosomal dominant fashion.[1]
Last updated: 6/6/2011

How is brachydactyly type B inherited?

Brachydactyly type B is caused by mutations in the ROR2 gene. It is inherited in an autosomal dominant fashion, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Individuals with brachydactyly type B have a 50% chance of passing on this condition to their children.[1]
Last updated: 6/6/2011

References
  1. Brachydactyly type B. Orphanet. May 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93383. Accessed 6/6/2011.


See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.