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    Bardet Biedl Syndrome

    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
    • Laurence-Moon syndrome (LMS)

    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

    Foundation Fighting Blindness
    7168 Columbia Gateway Drive, Suite 100
    Columbia, MD 21046
    Tel: (410)423-0600
    Fax: (410)872-0574
    Tel: (800)683-5555
    TDD: (800)683-5551
    Email: info@FightBlindness.org
    Internet: http://www.blindness.org/

    Lighthouse International
    111 E 59th St
    New York, NY 10022-1202
    Tel: (800)829-0500
    Email: info@lighthouse.org
    Internet: http://www.lighthouse.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@rpinternational.org
    Internet: http://www.rpinternational.org

    National Association for Parents of Children with Visual Impairments (NAPVI)
    P.O. Box 317
    Watertown, MA 02272-0317
    Tel: (617)972-7441
    Fax: (617)972-7444
    Tel: (800)562-6265
    Email: napvi@perkins.org
    Internet: http://www.napvi.org

    American Foundation for the Blind
    2 Penn Plaza
    Suite 1102
    New York, NY 10121
    Tel: (212)502-7600
    Fax: (888)545-8331
    Tel: (800)232-5463
    TDD: (212)502-7662
    Email: afbinfo@afb.net
    Internet: http://www.afb.org

    American Council of the Blind
    2200 Wilson Boulevard
    Suite 650
    Arlington, VA 22201
    Tel: (202)467-5081
    Fax: (202)465-5085
    Tel: (800)424-8666
    Email: mailman@acb.org
    Internet: http://www.acb.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
    Tel: (800)223-1839
    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

    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/

    Foundation Fighting Blindness (Canada)
    890 Yonge Street, 12th Floor
    Toronto, Ontario, M4W 3P4
    Canada
    Tel: 4163604200
    Fax: 4163600060
    Tel: 8004613331
    Email: info@ffb.ca
    Internet: http://www.ffb.ca

    Madisons Foundation
    PO Box 241956
    Los Angeles, CA 90024
    Tel: (310)264-0826
    Fax: (310)264-4766
    Email: getinfo@madisonsfoundation.org
    Internet: http://www.madisonsfoundation.org

    Retina International
    Ausstellungsstrasse 36
    CH-8005
    Zürich,
    Switzerland
    Tel: 410444441077
    Fax: 410444441070
    Email: christina.fasser@retina-international.org
    Internet: http://www.retina-international.org

    Perkins School for the Blind
    175 North Beacon Street
    Watertown, MA 02472
    Tel: (617)924-3434
    Fax: (617)926-2027
    Email: Info@Perkins.org
    Internet: http://www.Perkins.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: 8/7/2007
    Copyright 1994, 1996, 2001, 2002, 2007 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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