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Prader Willi Syndrome

National Organization for Rare Disorders, Inc.

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

  • Prader-Labhart-Willi syndrome
  • PWS
  • Willi-Prader syndrome

Disorder Subdivisions

  • None

General Discussion

Summary

Prader-Willi syndrome (PWS) is a genetic multisystem disorder characterized during infancy by lethargy, diminished muscle tone (hypotonia), feeding difficulties, and poor weight gain. In childhood, features of this disorder include short stature, small genitals and an excessive appetite because affected individuals do not feel satisfied after completing a mean (satiety). Without intervention, this can lead to overeating and the gradual onset of obesity. The food compulsion requires constant supervision. Individuals with severe obesity may have an increased risk of cardiac insufficiency, sleep apnea, diabetes, and other serious conditions that can cause life-threatening complications. All individuals with PWS have some cognitive impairment that ranges from low normal intelligence with learning disabilities to mild to moderate intellectual disability. Behavioral problems are common and can include temper tantrums, obsessive/compulsive behavior, and skin picking. Motor milestones and language development are often delayed. PWS occurs due to abnormalities affecting certain genes in a specific region of chromosome 15. These abnormalities usually result from random (sporadic) errors in development, but are sometimes inherited.



Introduction

Originally described in the medical literature in 1956, PWS is the first disorder confirmed to be due to imprinting errors (see Causes section). It is the most common genetic cause of life-threatening childhood obesity. The disorder was once known as hypogonadism, hypotonia, hypomentia, obesity (HHHO).

Resources

Prader-Willi Syndrome Association (USA)

8588 Potter Park Drive, Suite 500

Sarasota, FL 34238

USA

Tel: (941)312-0400

Fax: (941)312-0142

Tel: (800)926-4797

Email: webmaster1@pwsausa.org

Internet: http://www.pwsausa.org



March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

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, DE1 2QQ

United Kingdom

Fax: 01332360401

Tel: 01332365676

Email: admin@pwsa.co.uk

Internet: http://www.pwsa.co.uk



NIH/National Institute of Child Health and Human Development

31 Center Dr

Building 31, Room 2A32

MSC2425

Bethesda, MD 20892

Fax: (866)760-5947

Tel: (800)370-2943

TDD: (888)320-6942

Email: NICHDInformationResourceCenter@mail.nih.gov

Internet: http://www.nichd.nih.gov/



Prader-Willi France

10 Rue Charles Clement

Mondrepuis, F02500

France

Tel: 33323987904

Fax: 33323987904

Email: jean-yves.belliard@wanadoo.fr

Internet: http://www.perso.wanadoo.fr/pwillifr



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/



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



Foundation for Prader-Willi Research

5455 Wilshire Blvd

Suite 2020

Los Angeles, CA 90036

Tel: (760)536-3027

Fax: (888)559-4105

Email: tthoet@fpwr.org

Internet: http://www.fpwr.org



International Prader Willi Syndrome Organization

c/o Baschirotto Institute for Rare Diseases (BIRD)

Via Bartolomeo Bizio, 1

Costozza (VI), 36023

Italy

Tel: 390444555557

Fax: 390444555557

Email: g.fornas@alice.it

Internet: http://www.ipwso.org



Medical Home Portal

Dept. of Pediatrics

University of Utah

P.O. Box 581289

Salt Lake City, UT 84158

Tel: (801)587-9978

Fax: (801)581-3899

Email: mindy.tueller@utah.edu

Internet: http://www.medicalhomeportal.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:  5/31/2012

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