Prader Willi Syndrome

Important
It is possible that the main title of the report Prader Willi 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

Cryptorchidism-Dwarfism-Subnormal Mentality
HHHO
Hypogenital Dystrophy with Diabetic Tendency
Hypotonia-Hypomentia-Hypogonadism-Obesity Syndrome
Labhart-Willi Syndrome
Prader-Labhart-Willi Fancone Syndrome
Willi-Prader Syndrome

Disorder Subdivisions

None

General Discussion

Prader-Willi syndrome is a genetic disorder characterized in infancy by diminished muscle tone (hypotonia), feeding difficulties, and failure to grow and gain weight (failure to thrive). In childhood, features of the disorder include short stature, genital abnormalities and an excessive appetite. Progressive obesity results because of a lack of feeling satisfied after completing a meal (satiety) that leads to overeating. Without appropriate treatment, individuals with severe progressive obesity may have an increased risk of cardiac insufficiency, diabetes or other serious conditions that may lead to potentially life-threatening complications. All individuals with Prader-Willi syndrome have some cognitive impairment that ranges from borderline normal with learning disabilities to mild mental retardation. Behavior problems are common and can include temper tantrums, obsessive/compulsive behavior, and skin picking.

Prader-Willi syndrome occurs when the genes in a specific region of chromosome 15 do not function. The abnormal genes usually result from random errors in development, but are sometimes inherited.

Resources

Prader-Willi Syndrome Association (USA)
5700 Midnight Pass Road
Suite 6
Sarasota, FL 34242
USA
Tel: 9413120400
Fax: 9413120142
Tel: 8009264797
Email: national@pwsausa.org
Internet: http://www.pwsausa.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Prader-Willi Syndrome Association (UK)
125A London Rd
Derby, Intl DE1 2QQ
United Kingdom
Tel: 01 332 365676
Fax: 01 332 360401
Email: admin@pwsa-uk.demon.co.uk
Internet: http://www.pwsa.co.uk

Cassidy, Suzanne, M.D.
University of Arizona
Department of Pediatrics
Tucson, AZ

Erickson, Robert, M.D.
University of Arizona
Department of Pediatrics
1501 North Campbell Ave
Tucson, AZ 85724

NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
MSC2425
Bethesda, MD 20892
Tel: (301)496-5133
Fax: (301)496-7101
Internet: http://www.nih.gov/hichd/

Prader-Willi France
10 Rue Charles Clement
Mondrepuis, Intl F02500
France
Tel: 33 323 98 79 04
Fax: 33 323 98 79 04
Email: jean-yves.belliard@wanadoo.fr
Internet: http://www.perso.wanadoo.fr/pwillifr

Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K, 1220
Denmark
Tel: 45 33 14 00 10
Fax: 45 33 14 55 09
Email: mail@sjaeldnediagnoser
Internet: http://www.raredisorders.dk

Foundation for Prader-Willi Research
6407 Bardstown Rd.
Suite 252
Louisville, KY 40291
Tel: (502)384-8405
Fax: (502)749-9388
Email: info@pwsresearch.org
Internet: http://www.pwsresearch.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: 3/31/2005
Copyright 1984, 1985, 1987, 1988, 1989, 1992, 1994, 1996, 1997, 1998, 1999, 2000, 2002, 2004, 2005 National Organization for Rare Disorders, Inc.

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