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Branchio Oculo Facial Syndrome

National Organization for Rare Disorders, Inc.

Important
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.

Synonyms

  • BOFS
  • Branchiooculofacial Syndrome
  • Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
  • Imperforate Nasolacrimal Duct, and Premature Aging Syndrome
  • Lip Pseudocleft-hemangiomatous Branchial Cyst Syndrome

Disorder Subdivisions

  • None

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.

Resources

FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Tel: (423)266-1632
Fax: (423)267-3124
Tel: (800)332-2373
Email: faces@faces-cranio.org
Internet: http://www.faces-cranio.org

Let's Face It
University of Michigan, School of Dentistry / Dentistry Library
1011 N. University
Ann Arbor, MI 48109-1078
USA
Tel: (360)676-7325
Email: faceit@umich.edu
Internet: http://www.dent.umich.edu/faceit

National Foundation for Facial Reconstruction
333 East 30th Street, Lobby Unit
New York, NY 10016
Tel: (212)263-6656
Fax: (212)263-7534
Internet: http://www.nffr.org

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

Cleft Lip and Palate Foundation of Smiles
2044 Michael Ave SW
Wyoming, MI 49509
Tel: (616)329-1335
Email: Rachelmancuso09@comcast.net
Internet: http://www.cleftsmile.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  7/23/2007
Copyright  1990, 1997, 1998, 2006, 2007 National Organization for Rare Disorders, Inc.

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