Prader-Willi syndrome (PWS) is group of symptoms caused by a rare genetic problem. It can cause a variety of problems with growth and development.
PWS is caused by a genetic problem that is most often passed from the father to the child.
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There are no known risk factors for PWS. A few people with it may have a family history of it.
Some physical features in people with PWS are:
- Almond-shaped eyelid openings
- Poor eye alignment
- A thin upper lip
- A downturned mouth
- A narrow forehead
- Small hands and feet
Other symptoms of PWS can change as the child ages.
Infants may have:
- Problems feeding
- Slow growth
- A weak, squeaky cry
Toddlers may have:
- A delay in developing language, walking, and other skills
- Behavior problems, such as temper tantrums
- Shorter stature compared to peers
- Increased hunger
Older children may have:
- Hunger that does not go away, even when they have eaten
- More behavior problems, such as:
- Anger and inflexibility
- Problems moving from one activity or place to another (such as stopping playing to go to school)
- Mood swings
- Obsessive habits
- Learning problems
- Sleep problems
- High threshold for pain
- Problems sensing temperature extremes
The doctor will ask about symptoms and health history. This may be enough to suspect PWS.
A genetic test can help confirm the diagnosis. This test is done with a blood test. Other hormone tests may be done to see if there is a higher risk for other problems.
The goal of treatment is to manage symptoms. There is no cure for PWS. Lifetime treatment will be needed. Some ways to do this are:
- Nutrition support to make sure the child gets the right amount of calories and stays at a healthy weight
- Lifestyle changes, such as working out
- Physical, speech, and occupational therapy to help with developmental delays
- Special education services
- Medicines to help with feeding and behavior issues, as well as:
- Growth hormones to help with height
- Hormone replacement therapy to help with development
There are no known guidelines to prevent PWS.
- Driscoll, D.J., Miller, J.L., et al. Prader-Willi Syndrome. GeneReviews, 2017. Available at: https://www.ncbi.nlm.nih.gov/sites/books/NBK1330.
- Prader-Willi syndrome. EBSCO DynaMed Plus website. Available at: https://www.dynamed.com/condition/prader-willi-syndrome-27.
- What is Prader-Willi syndrome? Foundation for Prader-Willi Research website. Available at: https://www.fpwr.org/what-is-prader-willi-syndrome.
- Marcin Chwistek, MD
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