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Diseases

Genetic and Rare Diseases Information Center (GARD)

Brachydactyly type C


Other Names for this Disease
  • BDC
  • Brachydactyly Haws type
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Overview

Brachydactyly type C is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. The bones of the ring finger are typically normal. Other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar deviation (angled towards the fifth finger) of the index finger; and unusually-shaped bones and/or epiphysis (end of a long bone). Brachydactyly type C is typically caused by changes (mutations) in the GDF5 gene and is inherited in an autosomal dominant manner. Treatment varies based on the severity of the condition. Physical therapy and/or plastic surgery may be indicated if the condition affects hand function.[1][2]
Last updated: 11/4/2015

References

  1. Samia A Temtamy and Mona S Aglan. Brachydactyly. Orphanet Journal of Rare Diseases. 2008; 3(15):http://www.ojrd.com/content/3/1/15.
  2. Al-Qattan MM, Al-Motairi MI, Al Balwi MA. Two novel homozygous missense mutations in the GDF5 gene cause brachydactyly type C. Am J Med Genet A. July 2015; 167(7):1621-1626.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Brachydactyly type C. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • BDC
  • Brachydactyly Haws type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.