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Copyright 1994, 1996, 2001, 2002, 2007
Synonyms of Bardet Biedl Syndrome
Disorder Subdivisions
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.
Organizations related to Bardet Biedl Syndrome
- American Council of the Blind, Inc.
2200 Wilson Boulevard, Suite 650
Arlington VA 22201
Phone #: 202-467-5081
800 #: 800-424-8666
e-mail: N/A
Home page: http://www.acb.org
- American Foundation for the Blind
2 Penn Plaza, Suite 1102
New York NY 10021
Phone #: 212-502-7600
800 #: 800-232-5463
e-mail: afbinfo@afb.net
Home page: http://www.afb.org
- American Printing House for the Blind
1839 Frankfort Avenue
P.O. Box 6085
Louisville KY 40206-0085
Phone #: 502-895-2405
800 #: 800-223-1839
e-mail: info@aph.org
Home page: http://www.aph.org
- Blind Children's Fund
311 W. Broadway
Suite 1
Mt. Pleasant MI 48858
Phone #: 989-779-9966
800 #: --
e-mail: bcf@blindchildrensfund.org
Home page: http://www.blindchildrensfund.org
- Foundation Fighting Blindness
11435 Cronhill Drive
Owings Mills MD 21117-2220
Phone #: 410-568-0150
800 #: 800-683-5555
e-mail: info@blindness.org
Home page: http://www.fightblindness.org
- Foundation Fighting Blindness (Canada)
890 Yonge Street, 12th Floor
Toronto, Ontario None M4W 3P4
Phone #: 416--36-0-4200
800 #: 800--46-1-3331
e-mail: info@ffb.ca
Home page: http://www.ffb.ca
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- MUMS (Mothers United for Moral Support, Inc) 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/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown MA 02472
Phone #: 617-972-7441
800 #: 800-562-6265
e-mail: napvi@perkins.org
Home page: http://www.napvi.org
- National Association for Visually Handicapped
22 West 21st Street
New York NY 10010
Phone #: 212-889-3141
800 #: --
e-mail: staff@navh.org
Home page: http://www.navh.org
- Perkins School for the Blind
175 North Beacon St.
Watertown MA 02472
Phone #: 617-924-3434
800 #: N/A
e-mail: Info@Perkins.org
Home page: http://www.Perkins.org
- Prevent Blindness America
211 West Wacker Drive
Suite 1700
Chicago IL 60606
Phone #: 312-363-6001
800 #: 800-331-2020
e-mail: info@preventblindness.org
Home page: http://www.preventblindness.org
- Retina International
Ausstellungsstrasse 36
CH-8005
Zürich None None
Phone #: (0)-44 -444 10 77
800 #: N/A
e-mail: c.fasser@e-link.ch
Home page: http://www.retina-international.org
- Retinitis Pigmentosa International
P.O. Box 900
Woodland Hills CA 91365
Phone #: 818-992-0500
800 #: 800-344-4877
e-mail: info@international.org
Home page: http://www.rpinternational.org
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