Prader Willi Syndrome

What is prader willi Syndrome ?

Prader-Willi syndrome (PWS) is a rare genetic disorder that affects many parts of the body. It results from an abnormality on chromosome 15, specifically the loss of function of genes in the 15q11-q13 region. The syndrome is named after the two Swiss doctors who first described it in 1956: Andrea Prader and Heinrich Willi.

Prader-Willi syndrome has several characteristic features, and individuals with PWS may exhibit the following:

  • Feeding Difficulties in Infancy
  • Hypotonia (Low Muscle Tone)
  • Delayed Developmental Milestones
  • Hyperphagia (Excessive Eating)
  • Mild to Moderate Intellectual Disability
  • Behavioral and Emotional Challenges
  • Short Stature
  • Hypogonadism

 

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