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Diseases

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
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Symptoms

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What are the signs and symptoms of branchiooculofacial syndrome (BOFS)?

The characteristic signs and symptoms of BOFS include skin defects, eye abnormalities, and distinctive facial features. These features vary among affected individuals. The skin defects include proliferation of blood vessels (hemangiomatous) in the lower neck or upper chest; lumps in the area of the neck or collarbone (branchial cleft sinuses); and linear skin lesions behind the ears. Eye abnormalities can include microphthalmia, coloboma, and strabismus. The distinctive facial features can include widely spaced eyes; the presence of a pseudocleft of the upper lip resembling a poorly repaired cleft lip; a malformed nose with a broad bridge and flattened tip; blockage of the tear ducts (lacrimal duct obstruction); and malformed ears. Often, affected individuals may have burn-like lesions behind the ears. Other features can include delayed growth, thymic and kidney abnormalities, dental abnormalities, and hearing loss. Intellect is usually normal.[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.


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.