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Brachydactyly type B
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mutations in the ROR2 gene. Most cases have been shown to be inherited in an autosomal dominant fashion.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
Last updated: 6/6/2011
- Brachydactyly type B. Orphanet. May 2008; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93383. Accessed 6/6/2011.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an 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 B. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Temtamy SA, Aglan MS. Brachydactyly. Orphanet Journal of Rare Diseases. 2008 Jun 13;3:15.