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Genetic and Rare Diseases Information Center (GARD)

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Branchiooculofacial syndrome


Other Names for this Disease

  • BOFS syndrome
  • Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging
  • Hemangiomatous branchial clefts-lip pseudocleft syndrome
  • Lip pseudocleft-hemangiomatous branchial cyst syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Branchiooculofacial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth. Only about 50 cases of BOFS had been reported in the medical literature. Like its name implies, BOFS is characterized by skin defects, eye abnormalities, and distinctive facial features. Among the reported cases thus far, the symptoms may vary from mild to severe. BOFS is caused by mutations in the TFAP2A gene and inherited as an autosomal dominant trait.[1][2][3]
Last updated: 6/23/2011

References

  1. Branchio Oculo Facial Syndrome. National Organization for Rare Disorders (NORD). 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract. Accessed 6/23/2011.
  2. Branchio-oculo-facial syndrome. Orphanet. January 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1297. Accessed 6/23/2011.
  3. Lin AAE & Milunsky JM. Branchiooculofacial Syndrome. GeneReviews. May 31, 2011; http://www.ncbi.nlm.nih.gov/books/NBK55063/. Accessed 6/23/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Branchiooculofacial syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

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 Branchiooculofacial syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • BOFS syndrome
  • Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging
  • Hemangiomatous branchial clefts-lip pseudocleft syndrome
  • Lip pseudocleft-hemangiomatous branchial cyst syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.