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 random genetic defect. The defect is most often caused by a gene from the father.
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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 normal development, such as language skills and walking
- Behavior problems, such as temper tantrums and stubbornness
- Short stature compared to peers in the family
- Increased hunger
Older children may have:
- Insatiable hunger
Increased behavior problems, such as:
- Anger and inflexibility
- Problems with transitions
- Mood swings
- Obsessive habits
- Learning problems
- Sleep problems
- High threshold for pain
- Problems sensing temperature extremes
The doctor will ask about your child's symptoms and health history. This may be enough to suspect PWS.
A genetic test can help to confirm the diagnosis. This test is done with a sample of blood.
There is no cure. Lifetime treatment will be needed to manage symptoms. Some methods are:
- Nutrition support to make sure the child gets the right amount of calories and maintains a healthy weight
- Lifestyle changes, such as exercising regularly
- Physical, speech, and occupational therapy to help with developmental delays
- Special education services
- Medicines to improve feeding and behavior issues as well as:
- Growth hormones to normalize height
- Hormone replacement therapy to help with development
March of Dimes http://www.modimes.org
Prader-Willi Syndrome Association http://www.pwsausa.org
About Kids Health—The Hospital for Sick Children http://www.aboutkidshealth.ca
Foundation for Prader-Willi Research http://fpwr.org
About Prader-Willi syndrome. Foundation for Prader-Willi Research website. Available at: http://fpwr.org/about-prader-willi-syndrome. Accessed November 25, 2020.
Driscoll DJ, Miller JL, et al. Prader-Willi Syndrome. GeneReviews 2016 Feb 4.
Prader-Willi syndrome. EBSCO DynaMed Plus website. Available at: https://www.dynamed.com/condition/prader-willi-syndrome-27. Accessed November 25, 2020.
- Reviewer: EBSCO Medical Review Board Marcin Chwistek, MD
- Review Date: 09/2020
- Update Date: 04/23/2021