Bardet Biedl Syndrome

Important
It is possible that the main title of the report Bardet Biedl Syndromeis not the name you expected.

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: (212)889-3141
Fax: (212)727-2931
staff@navh.org
http://www.navh.org

Chromosome
11435 Cronhill Drive
Owings Mills
MD
21117-2220
Tel: (410)568-0150
Fax: (410)363-2393
800: (800)683-5555
TDD: (800)683-5551
info@blindness.org
http://www.fightblindness.org

Retinitis Pigmentosa International
P.O. Box 900
Woodland Hills
CA
91365
Tel: (818)992-0500
Fax: (818)992-3265
800: (800)344-4877
info@international.org
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
800: (800)562-6265
napvi@perkins.org
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
800: (800)424-8666
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
800: (800)232-5463
TDD: (212)502-7662
afbinfo@afb.org
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
bcf@blindchildrensfund.org
http://www.blindchildrensfund.org

American Printing House for the Blind
1839 Frankfort Avenue
P.O. Box 6085
Louisville
KY
40206-0085
USA
Tel: (502)895-2405
Fax: (502)899-2274
800: (800)223-1839
info@aph.org
http://www.aph.org

Prevent Blindness America
211 West Wacker Drive
Suite 1700
Chicago
IL
60606
Tel: (312)363-6001
Fax: (312)363-6052
800: (800)331-2020
info@preventblindness.org
http://www.preventblindness.org

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

Foundation Fighting Blindness (Canada)
60 St. Clair Ave East
Suite 703
Toronto, Ontario
M4T 1N5
Canada
Tel: 416-360-4200
Fax: 416-360-0060
800: 800-461-3331
info@ffb.ca
http://www.ffb.ca

Retina International
Ausstellungsstrasse 36
CH-8005
Zürich
Switzerland
Tel: (0)44 444 10 77
Fax: (0)44 444 10 70
c.fasser@e-link.ch
http://www.retina-international.org

Perkins School for the Blind
175 North Beacon St.
Watertown
MA
02472
Tel: (617)924-3434
Fax: (617)926-2027
Info@Perkins.org
http://www.Perkins.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.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: August 07, 2007

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