Prader-Willi syndrome is a very variable genetic disorder and is the most common life-threatening genetic cause of obesity known in children. It is caused by the absence of expression of genes found on the paternal-origin chromosome 15 (region 15q11.2–q13).

The prevalence is estimated at 1 in 10,000-30,000 births. Life expectancy is normal (but only if weight is controlled).

Most frequent clinical findings in patients with Prader-Willi syndrome (region 15q11.2–q13):

  • Low muscular tone (hypotonia)
  • Growth deficiency and developmental delay
  • Wide forehead
  • Chronic overeating
  • Obesity
  • Light intellectual deficit
  • Underdeveloped genitals
  • Low levels of sexual hormones
  • Delayed or incomplete puberty
  • Infertility

Additional information – Prader-Willi Syndrome Association – International Prader-Willi Syndrome Organization

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