Prader–Willi syndrome

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Prader-Willi syndrome phenotype at 15 years of age. Note presence of typical PWS facial features and mild truncal obesity.

Prader–Willi syndrome (; abbreviated PWS) is a rare genetic disorder in which seven genes (or some subset thereof) on chromosome 15 (q 11–13) are deleted or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. It was first described in 1956 by Andrea Prader (1919–2001), Heinrich Willi (1900–1971), Alexis Labhart (1916), Andrew Ziegler, and Guido Fanconi of Switzerland. Characteristic of PWS is "low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviors, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity." The incidence of PWS is between 1 in 25,000 and 1 in 10,000 live births. The paternal origin of the genetic material that is affected in the syndrome is important because the particular region of chromosome 15 involved is subject to parent of origin imprinting, meaning that for a number of genes in this region only one copy of the gene is expressed while the other is silenced through imprinting. For the genes affected in PWS, it is the paternal copy that is usually expressed, while the maternal copy is silenced. This means that while most people have a single working copy of these genes, people with PWS have a non-working copy and a silenced copy. PWS has the sister syndrome Angelman syndrome in which maternally derived genetic material is affected in the same genetic region.

• See also: Wikipedia, Commons

• Related: Genomic imprinting, Angelman syndrome, Epigenetics, ROHHAD

PWS research short film PWS research short film www.youtube.com/watch?v=ofgjtGra3I8 - Web

Prader-Willi syndrome explanation Video Prader-Willi syndrome explanation Video live.iencyclopedia.org/.../prader-willi-syndrome-updates.html - Web

International Prader-Willi Organization International Prader-Willi Organization www.ipwso.org - Web

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Gallery for «Prader–Willi syndrome»

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Average relevance

Foundation for Prader-Willi Research Foundation for Prader-Willi Research www.fpwr.org - Web

Foundation for Prader-Willi Research Canada Foundation for Prader-Willi Research Canada www.fpwr.ca - Web

Prader-Willi Syndrome Association (USA) Prader-Willi Syndrome Association (USA) www.pwsausa.org - Web

Prader-Willi Syndrome (UK) Prader-Willi Syndrome (UK) www.praderwillisyndrome.org.uk - Web

Prader-Willi Syndrome Association (UK) Prader-Willi Syndrome Association (UK) pwsa.co.uk/main.php - Web

Prader-Willi Syndrome Association (South Africa) Prader-Willi Syndrome Association (South Africa) www.praderwilli.org.za - Web

SPINE Foundation (Argentina) SPINE Foundation (Argentina) www.spine.org.ar - Web

Fundación SPW (Spain) Fundación SPW (Spain) www.praderwilli.es - Web

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Low relevance

(GeneReview on Prader-Willi syndrome) (GeneReview on Prader-Willi syndrome) www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pws - Web

Orphanet's disease page on Prader-Willi syndrome Orphanet's disease page on Prader-Willi syndrome www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=739 - Web

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