Diseases & Conditions


Bardet Biedl Syndrome

Synonyms of Bardet Biedl Syndrome
  • Biedl-Bardet 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.
      1155 15th Street
      Washington DC 20005
      Phone #: 202-467-5081
      800 #: 800-424-8666
      e-mail: N/A
      Home page: http://www.acb.org
    • American Foundation for the Blind
      11 Penn Plaza
      New York NY 10001
      Phone #: 212-502-7600
      800 #: 800-232-5463
      e-mail: [email protected]
      Home page: http://www.afb.org
    • American Printing House for the Blind
      1839 Frankfort Avenue
      Louisville KY 40206-0085
      Phone #: 502-895-2405
      800 #: 800-223-1839
      e-mail: [email protected]
      Home page: http://www.aph.org
    • Blind Children's Fund
      311 W. Broadway
      Mt. Pleasant MI 48858
      Phone #: 989-779-9966
      800 #: --
      e-mail: [email protected]
      Home page: http://www.blindchildrensfund.org
    • Chromosome
      11435 Cronhill Drive
      Owings Mills MD 21117-2220
      Phone #: 410-568-0150
      800 #: 800-683-5555
      e-mail: [email protected]
      Home page: http://www.fightblindness.org
    • Foundation Fighting Blindness (Canada)
      60 St. Clair Ave East
      Toronto, Ontario None M4T 1N5
      Phone #: 416--36-0-4200
      800 #: 800--46-1-3331
      e-mail: [email protected]
      Home page: http://www.ffb.ca
    • 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: [email protected]
      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: [email protected]
      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: [email protected]
      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: [email protected]
      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: [email protected]
      Home page: http://www.Perkins.org
    • Prevent Blindness America
      211 West Wacker Drive
      Chicago IL 60606
      Phone #: 312-363-6001
      800 #: 800-331-2020
      e-mail: [email protected]
      Home page: http://www.preventblindness.org
    • Retina International
      Ausstellungsstrasse 36
      Z?rich None None
      Phone #: (0)-44 -444 10 77
      800 #: N/A
      e-mail: [email protected]
      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: [email protected]
      Home page: http://www.rpinternational.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