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Bardet Biedl Syndrome

National Organization for Rare Disorders, Inc.

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 MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

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.

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