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.
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).
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
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
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