Branchiooculofacial syndrome

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. 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 on 05-01-20

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.

Last updated on 05-01-20

What is branchiooculofacial syndrome (BOFS)?

Branchiooculo facial 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.

Last updated on 05-01-20

Name: FACES: The National Craniofacial Association PO Box 11082
Chattanooga, TN, 37401, United States
Phone: 423-266-1632 Toll Free: 800-332-2373 Email: Url:
Name: Let's Face It University of Michigan School of Dentistry Dentistry Library 1011 North University
Ann Arbor, MI, 48109-1078, United States
Email: Url: This website does not appear to be actively updated any longer. However the information and resources may be helpful.

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