Prader-Willi Syndrome
The Genetics
Contact Details
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Prader-Willi Syndrome (PWS) is a rare congenital condition caused by the lack of the paternally derived region q11-13 on chromosome 15. It was first described by Prader, Labhart and Willi in 1956. [Prader 1956]

The deletion of multiple and adjacent gene loci causes multiple, apparently unrelated, distinct clinical features including:

  • Hypotonia
  • Failure to Thrive
  • Poor Suck Reflex
  • Hyperphagia
  • Insatiable Appetite
  • Dysmorphic Feature
  • Hypogonadism
  • Learning Difficulties
  • Emotional Instability

The features of PWS tend to alter as the individual matures and there is some evidence to show that certain features are more or less likely depending on the genetical cause of the syndrome.

PWS is a complex condition and therefore requires management in a Multi-disciplinary Team (MDT) approach. Management may be required to address problems such as eating disorders, learning difficulties as well as behavioural and emotional issues. Caring for a child with PWS can be extremely difficult so all care givers should also be offered support and reassurance.

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Sally Price 2007  Leeds