Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.


Genetic and Rare Diseases Information Center (GARD)

Print friendly version

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.


Newline Maker

How is branchiooculofacial syndrome (BOFS) inherited?

Although some cases can be sporadic, most of the reported cases are inherited within families. BOFS is inherited in an autosomal dominant pattern, which means that one copy of the altered TFAP2A gene in each cell is sufficient to cause this condition.[1][2]
Last updated: 6/23/2011

  1. Branchio-oculo-facial syndrome. Orphanet. January 2009; Accessed 6/23/2011.
  2. Lin AAE & Milunsky JM. Branchiooculofacial Syndrome. GeneReviews. May 31, 2011; Accessed 6/23/2011.