Bardet Biedl Syndrome

Content provided by National Organization for Rare Disorders

Important

It is possible that the main title of the report Bardet Biedl 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

• Biedl-Bardet Syndrome

Disorder Subdivisions

• None

General Discussion

Bardet-Biedl syndrome is a rare, genetic multisystem disorder characterized primarily by deterioration of the cells that receive light stimuli (cone and rod cells) in the retina of the eyes (progressive cone-rod dystrophy), an extra finger near the pinky or an extra toe near the fifth toe (postaxial polydactyly), a condition in which fat is disproportionately distributed on the abdomen and chest rather than the arms and legs (truncal obesity), diminished size and decreased function of the gonads (testes) in males (hypgonadism), kidney (renal) abnormalities, and learning difficulties. Visual abnormalities usually become progressively worse and may ultimately result in blindness. Kidney (renal) abnormalities may progress to cause life-threatening complications. Learning difficulties are a common finding due, in part, to vision loss. Only a minority of affected individuals have severe mental impairment. Most cases of Bardet-Biedl syndrome are inherited as an autosomal recessive trait.



Bardet-Biedl syndrome shows significant overlap with a disorder called Laurence-Moon syndrome. In fact, in the past, these disorders were considered the same and referred to as Laurence-Bardet-Biedl syndrome. Eventually, researchers decided that the two disorders despite numerous similarities were distinct entities. However, recent research has demonstrated that some individuals with the clinical findings of Laurence-Moon syndrome have had mutations in genes linked to Bardet-Biedl syndrome. This discovery has led some researchers to suggest that little evidence exists to continue to classify these two disorders as distinct entities.

Resources

National Association for Visually Handicapped

22 West 21st Street

New York, NY 10010

USA

Tel: 2128893141

Fax: 2127272931

Email: staff@navh.org

Internet: http://www.navh.org



Foundation Fighting Blindness, Inc.

11435 Cronhill Drive

Owings Mills, MD 21117-2220

Tel: (410)568-0150

Fax: (410)363-2393

Tel: (800)683-5555

TDD: (800)683-5551

Email: info@blindness.org

Internet: http://www.fightblindness.org



Retinitis Pigmentosa International

P.O. Box 900

Woodland Hills, CA 91365

Tel: (818)992-0500

Fax: (818)992-3265

Tel: (800)344-4877

Email: info@international.org

Internet: http://www.rpinternational.org



National Association for Parents of Children with Visual Impairments (NAPVI)

P.O. Box 317

Watertown, MA 02472

Tel: (617)972-7441

Fax: (617)972-7444

Tel: (800)562-6265

Email: napvi@perkins.org

Internet: http://www.napvi.org



American Council of the Blind, Inc.

1155 15th Street

Suite 1004

Washington, DC 20005

Tel: (202)467-5081

Fax: (202)467-5085

Tel: (800)424-8666

Internet: http://www.acb.org



American Foundation for the Blind

11 Penn Plaza

Suite 300

New York, NY 10001

Tel: (212)502-7600

Fax: (212)502-7777

Tel: (800)232-5463

TDD: (212)502-7662

Email: afbinfo@afb.org

Internet: http://www.afb.org



Blind Children's Fund

311 W. Broadway

Suite 1

Mt. Pleasant, MI 48858

Tel: (989)779-9966

Fax: (989)779-0015

Email: bcf@blindchildrensfund.org

Internet: http://www.blindchildrensfund.org



American Printing House for the Blind

1839 Frankfort Avenue

P.O. Box 6085

Louisville, KY 40206-0085

USA

Tel: 5028952405

Fax: 5028992274

Tel: 8002231839

Email: info@aph.org

Internet: http://www.aph.org



Prevent Blindness America

211 West Wacker Drive

Suite 1700

Chicago, IL 60606

Tel: (312)363-6001

Fax: (312)363-6052

Tel: (800)331-2020

Email: info@preventblindness.org

Internet: http://www.preventblindness.org



Foundation Fighting Blindness (Canada)

60 St. Clair Ave East

Suite 703

Toronto, Ontario, M4T 1N5

Canada

Tel: 416-360-4200

Fax: 416-360-0060

Tel: 800-461-3331

Email: info@ffb.ca

Internet: http://www.ffb.ca



Retina International

Ausstellungsstrasse 36

CH-8005

Zürich,

Switzerland

Tel: (0)44 444 10 77

Fax: (0)44 444 10 70

Email: c.fasser@e-link.ch

Internet: http://www.retina-international.org

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

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:   8/7/2007

Copyright   1994, 1996, 2001, 2002, 2007 National Organization for Rare Disorders, Inc.

E-mail This | Print This

Last updated:	August 07, 2007