Prader Willi Syndrome
National Organization for Rare Disorders, Inc.
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.
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.
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).
Foundation for Prader-Willi Research
- 5455 Wilshire Blvd
- Suite 2020
- Los Angeles, CA 90036
- Tel: (760)536-3027
- Fax: (888)559-4105
- Email: email@example.com
- Website: http://www.fpwr.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
- Website: http://rarediseases.info.nih.gov/GARD/
International Prader Willi Syndrome Organization
- c/o Baschirotto Institute for Rare Diseases (BIRD)
- Via Bartolomeo Bizio, 1
- Costozza (VI), 36023
- Tel: 390444555557
- Fax: 390444555557
- Email: firstname.lastname@example.org
- Website: http://www.ipwso.org
March of Dimes Birth Defects Foundation
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Website: http://www.marchofdimes.com
Medical Home Portal
- Dept. of Pediatrics
- University of Utah
- Salt Lake City, UT 84158
- Tel: (801)587-9978
- Fax: (801)581-3899
- Email: email@example.com
- Website: http://www.medicalhomeportal.org
NIH/National Institute of Child Health and Human Development
- 31 Center Dr
- Building 31, Room 2A32
- Bethesda, MD 20892
- Fax: (866)760-5947
- Tel: (800)370-2943
- Email: NICHDInformationResourceCenter@mail.nih.gov
- Website: http://www.nichd.nih.gov/
- 10 Rue Charles Clement
- Mondrepuis, F02500
- Tel: 33323987904
- Fax: 33323987904
- Email: firstname.lastname@example.org
- Website: http://www.perso.wanadoo.fr/pwillifr
Prader-Willi Syndrome Association (UK)
- 125A London Rd
- Derby, DE1 2QQ
- United Kingdom
- Fax: 1332360401
- Tel: 1332365676
- Email: email@example.com
- Website: http://www.pwsa.co.uk
Prader-Willi Syndrome Association (USA)
- 8588 Potter Park Drive, Suite 500
- Sarasota, FL 34238
- Tel: (941)312-0400
- Fax: (941)312-0142
- Tel: (800)926-4797
- Email: firstname.lastname@example.org
- Website: http://www.pwsausa.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 email@example.com
Last Updated: 12/10/1969
Copyright 2012 National Organization for Rare Disorders, Inc.
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