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Copyright 1990, 1997, 1998, 2006, 2007
Synonyms of Branchio Oculo Facial Syndrome
- BOFS
- Branchiooculofacial Syndrome
- Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
- Imperforate Nasolacrimal Duct, and Premature Aging Syndrome
- Lip Pseudocleft-hemangiomatous Branchial Cyst Syndrome
Disorder Subdivisions
General Discussion
Branchio-oculo-facial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth (congenital). As of 2004, only about 50 cases of BOFS had been reported in the medical literature. The symptoms of most BOFS patients include the proliferation of blood vessels (hemangiomatous) in the lower neck or upper chest, low birth weight, retarded growth and some mental retardation. BOFS is characterized by 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), malformed ears, lumps in the area of the neck or collarbone (branchial cleft sinuses) and/or linear skin lesions behind the ears. Often, affected individuals may have burn-like lesions behind the ears. However, even among the cases so far reported, the symptoms may vary from mild to severe forms. The disorder is inherited as an autosomal dominant trait.
Organizations related to Branchio Oculo Facial Syndrome
- FACES: The National Craniofacial Association
P. O. Box 11082
Chattanooga TN 37401
Phone #: 423-266-1632
800 #: 800-332-2373
e-mail: faces@faces-cranio.org
Home page: http://www.faces-cranio.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- Let's Face It
University of Michigan
School of Dentistry / Dentistry Library
1011 N. University
Ann Arbor MI 48109-1078
Phone #: 360-676-7325
800 #: --
e-mail: faceit@umich.edu
Home page: http://www.dent.umich.edu/faceit
- Lin, Angela E. M.D.
Brigham and Women's Hospital
Teratology Program
Boston MA 02115
Phone #: 617-732-4268
800 #: --
e-mail: ALIN@Partners.org
Home page: N/A
- MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- National Foundation for Facial Reconstruction
317 East 34th Street, Room 901
New York NY 10016
Phone #: 212-263-6656
800 #: 800-422-3223
e-mail: whitney@nffr.org
Home page: http://www.nffr.org
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