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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
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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]
References
- Branchio Oculo Facial Syndrome. National Organization for Rare Disorders (NORD). http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract. Accessed June 23, 2011.
- Branchio-oculo-facial syndrome. Orphanet. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1297. Accessed June 23, 2011.
- Lin AAE & Milunsky JM. Branchiooculofacial Syndrome. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK55063/. Accessed June 23, 2011.
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General Information
- Genetics Home Reference (GHR) contains information on Branchiooculofacial syndrome. Click on the link to go to GHR and review the information.
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Branchiooculofacial syndrome. Click on the link to go to OMIM and review these resources.