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) 8588 Potter Park Drive Suite 500 Sarasota, FL 34238 USA Tel: 9414876729 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
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network 150 Custer Court Green Bay, WI 54301-1243 USA Tel: 9203365333 Fax: 9203390995 Tel: 8773365333 Email: mums@netnet.net Internet: http://www.netnet.net/mums/
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
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