A rare genetic neurodevelopmental disorder resulting in physical, mental and behavioral problems.
Prader-Willi Syndrome (PWS) is a genetic disorder with a birth incidence of approximately 1 in 15,000 live births. The syndrome arises from the loss of the paternally-inherited chromosome region 15q11-q13, referred to as the Prader-Willi Syndrome critical region. This genetic defect results in damage to the hypothalamus, a critical brain region responsible for regulating essential functions such as hunger, sleep, and body temperature.
PWS is characterized by severe hypotonia and a failure to thrive, followed by an intense preoccupation with food and hyperphagia (insatiable appetite) in early childhood. In addition to hyperphagia, individuals with PWS may also exhibit various neuropsychiatric symptoms and disorders, including temper outbursts, repetitive and ritualistic behaviors, inflexible thinking, skin picking, depression, and in some cases, psychosis.
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