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Prader-Willi Syndrome (PWS) PWS is the most common of the genetic disorders that cause life-threatening obesity in children. The syndrome affects many aspects of the person's life, including eating, behavior and mood, physical growth, and intellectual development.
Andrea Prader and Heinrich Willi first described the syndrome in the 1950s. 2 One of the main symptoms of PWS is the inability to control eating. In fact, PWS is the leading genetic cause of life-threatening obesity.
Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: Implications for imprint-switch models, genetic counseling, and prenatal diagnosis. American Journal of Human Genetics, 63 , 170-180.
Prader-Willi syndrome is caused by genetic changes on an "unstable" region of chromosome 15 that affects the regulation of gene expression, or how genes turn on and off. This part of the chromosome is called unstable because it is prone to being shuffled around by the cell's genetic machinery before the chromosome is passed on from parent to child.
The syndrome affects many aspects of the person's life, including eating, behavior and mood, physical growth, and intellectual development. Prader-Willi Syndrome (PWS) | NICHD - Eunice Kennedy Shriver National Institute of Child Health and Human Development
In many cases of Prader-Willi syndrome, diagnosis is prompted by physical symptoms in the newborn. If a newborn is unable to suck or feed for a few days and has a "floppy" body and weak muscle tone, a health care provider may conduct genetic testing for Prader-Willi syndrome. 1,2,3 Formal diagnostic criteria for recognizing Prader-Willi syndrome depend on the age of the individual-specifically ...
The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics. 108, e92. Retrieved on May 30, 2012, from https://pubmed.ncbi.nlm.nih.gov/11694676/
Angelman syndrome, like PWS, results from defects in one region of chromosome 15. The two syndromes both involve missing or silenced genes in this region, called the Prader-Willi critical region (PWCR). This section of the chromosome is "imprinted," and the genes involved in Angelman syndrome and PWS have different sex-specific imprinting patterns.
Select one of the following links to get ClinicalTrials.gov search results for studies on Prader-Willi syndrome: All NICHD clinical trials on Prader-Willi syndrome; All ClinicalTrials.gov trials on Prader-Willi syndrome
Prader-Willi Syndrome Association (USA) This association is a leading patient advocacy group, providing support to individuals with PWS and their families. Rare Diseases Clinical Research Network for Angelman, Rett & Prader-Willi Syndromes Consortium