Prader–Willi syndrome ( /ˈprɑːdər ˈvɪli/; 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 maternal copy that is usually imprinted or silenced, while the paternal copy is expressed. 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.
With the recent benefits of early diagnosis and ongoing interventions the obesity rate among children with Prader-Willi Syndrome has decreased to be similar to the typical population. With behavioural therapy and other treatments the effects of the syndrome can be reduced.
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Famous quotes containing the word syndrome:
“[T]he syndrome known as life is too diffuse to admit of palliation. For every symptom that is eased, another is made worse. The horse leechs daughter is a closed system. Her quantum of wantum cannot vary.”
—Samuel Beckett (19061989)