Prader Willi Syndrome

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 (PWS) is a genetic disorder characterized by low muscle tone, short stature if not treated with growth hormone, incomplete sexual development, and a chronic feeling of hunger that, coupled with a metabolism that utilizes drastically fewer calories than normal, can lead to excessive eating and life-threatening obesity. The food compulsion makes constant supervision necessary. Average IQ is 70, but even those with normal IQs almost all have learning issues. Social and motor deficits also exist. At birth the infant typically has low birth weight for gestation, hypotonia (weak muscles), and difficulty sucking due to the hypotonia which can lead to a diagnosis of failure to thrive. The second stage ("thriving too well"), has a typical onset between the ages of two and five, but can be later. The hyperphagia (extreme unsatisfied drive to consume food) lasts throughout the lifetime. Children with PWS have sweet and loving personalities, but this phase is also characterized by increased appetite, weight control issues, and motor development delays along with some behavior problems and unique medical issues.

Resources

Prader-Willi Syndrome Association (USA)

8588 Potter Park Drive, Suite 500

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, Intl DE1 2QQ

United Kingdom

Tel: 01332 365676

Fax: 01332 360401

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, 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



MUMS National Parent-to-Parent Network

150 Custer Court

Green Bay, WI 54301-1243

USA

Tel: (920)336-5333

Fax: (920)339-0995

Tel: (877)336-5333

Email: mums@netnet.net

Internet: http://www.netnet.net/mums/



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

Email: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx

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

36023 Costozza (VI),

Italy

Tel: +39 0444 555557

Fax: +39 0444 555557

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, 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:  5/5/2009

Copyright  1984, 1985, 1987, 1988, 1989, 1992, 1994, 1996, 1997, 1998, 1999, 2000, 2002, 2004, 2005, 2009 National Organization for Rare Disorders, Inc.