Branchio Oculo Facial Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Branchio Oculo Facial Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Branchiooculofacial Syndrome
- Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
- Imperforate Nasolacrimal Duct, and Premature Aging Syndrome
- Lip Pseudocleft-hemangiomatous Branchial Cyst Syndrome
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.
FACES: The National Craniofacial Association
P. O. Box 11082
Chattanooga, TN 37401
Let's Face It
University of Michigan
School of Dentistry / Dentistry Library
1011 N. University
Ann Arbor, MI 48109-1078
Transposition of the Great Arteries
317 East 34th St.
New York, NY 10016
Lin, Angela E. M.D.
Brigham and Women's Hospital
Boston, MA 02115
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
For a Complete Report
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html