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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

What is branchiooculofacial syndrome (BOFS)?

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

How is branchiooculofacial syndrome (BOFS) inherited?

How is branchiooculofacial syndrome (BOFS) diagnosed?

What is branchiooculofacial syndrome (BOFS)?

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

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

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.[2][3]
Last updated: 6/23/2011

How is branchiooculofacial syndrome (BOFS) diagnosed?

BOFS can be diagnosed clinically based on the characteristic features of this condition. Genetic testing can also confirm the diagnosis.[3] GeneTests lists the names of laboratories that are performing genetic testing for branchiooculofacial syndrome. To view the contact information for the clinical laboratories conducting testing, click here. To access the contact information for the research laboratories performing genetic testing, click here.

Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
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.