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Prader-Willi syndrome

2 min read

Prader-Willi syndrome is a rare genetic disorder that causes a range of physical, intellectual and behavioural problems. Although it has no cure, treatment, especially if received early on, can help with symptoms.

What is Prader-Willi syndrome?

Prader-Willi syndrome (PWS) is a genetic condition. It is usually caused by a genetic error at around the time of conception. It is only rarely passed on by a parent.

Symptoms or signs of Prader-Willi syndrome

In babies, typical signs of PWS include:

  • floppiness, difficulty sucking to feed, and delays in learning to sit and crawl, all caused by weakened muscles
  • sleeping more than normal
  • a weak cry.

From around 2 years of age, affected children can start to develop other symptoms such as:

As adolescents and adults, people with PWS tend to have breathing and sleeping issues, as well as a general lack of energy. Combined with an insatiable appetite, this can lead to life-threatening obesity.

Prader-Willi syndrome diagnosis

If PWS is suspected, genetic testing can be done to reliably confirm the diagnosis. Some people are not accurately diagnosed until they are in their 20s or 30s.

Living with Prader-Willi syndrome

Diagnosing PWS as early as possible allows interventions that can help significantly with some of the symptoms. For example, a lack of height can be treated with growth hormone.

Ideally, people with PWS will receive treatment and support from a whole team of health professionals. Australian guidelines recommend that doctors refer all children they see with PWS to a specialist PWS clinic (available in most capital cities) for additional care.

Children with PWS are usually able to go to school and may go on to work in supported employment. However, because of their uncontrollable appetite and other issues, adults with PWS are often not able to live independently. Adults with PWS are also susceptible to developing serious health problems linked with obesity, such as diabetes and heart disease.

Where to go for help

Support for people with Prader-Willi syndrome and their families is available from:

More information

Visit healthdirect's genetic disorders guide to learn more about genes, types of genetic disorders and where to go for help and more information.

Last reviewed: November 2016

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Brain Foundation | Prader-Willi Syndrome

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