Prader Willi syndrome
Prader-Willi Syndrome
Prader-Willi syndrome (PWS) is a complex genetic disorder affecting multiple parts of the body. Pronounced as PRAH-der VIL-ee, the syndrome is named after the Swiss doctors Andrea Prader, Alexis Labhart, and Heinrich Willi who first described it in 1956.
Etymology
The syndrome is named after the Swiss doctors Andrea Prader, Alexis Labhart, and Heinrich Willi who first described it in 1956.
Definition
Prader-Willi syndrome is a genetic disorder that typically causes low muscle tone, short stature if not treated with growth hormone, incomplete sexual development, cognitive disabilities, problem behaviors, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity.
Causes
Prader-Willi syndrome is caused by the loss of function of genes in a specific region of chromosome 15. People normally inherit one copy of this chromosome from each parent. Some genes are only active on the copy inherited from a specific parent. In Prader-Willi syndrome, the region of the paternal chromosome 15 containing these genes is absent.
Symptoms
Symptoms of Prader-Willi syndrome are likely to be noticed at birth and may include poor muscle tone, distinct facial features, and failure to thrive. Later, other symptoms may become apparent, such as insatiable hunger, obesity, and intellectual disability.
Related Terms
See Also
References
- National Institute of Child Health and Human Development. (2018). Prader-Willi Syndrome Information Page. Retrieved from https://www.nichd.nih.gov/health/topics/prader-willi
External links
- Medical encyclopedia article on Prader Willi syndrome
- Wikipedia's article - Prader Willi syndrome
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