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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Brachydactyly

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* Not a rare disease

Overview

Brachydactyly is a general term characterized by disproportionately short fingers and toes. It can occur as an isolated finding or as part of a complex syndrome. Many different types of brachydactyly have been identified. Some result in short stature and others are associated with other hand malformations, such as syndactyly, polydactyly, or reduction defects. The underlying genetic cause of most isolated forms of brachydactyly and many of the syndromic forms has been identified. Many of the isolated forms are inherited in an autosomal dominant manner with variable expressivity and reduced penetrance. Treatment depends on the specific type of brachydactyly, but may include plastic surgery, physical therapy and/or ergotherapy.[1]
Last updated: 9/4/2013

References

  1. Temtamy SA, Aglan MS. Brachydactyly. Orphanet Journal of Rare Diseases. 2008; http://www.ojrd.com/content/3/1/15. Accessed 9/3/2013.
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In Depth Information

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

Selected Full-Text Journal Articles

  • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.
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