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Prader-Willi Syndrome

Authors:
  • Cynthia M. Johnson, MA
Publication Type:

Condition

Prader-Willi Syndrome

(Prader-Labhart-Willi Syndrome)

Definition

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.

Causes

PWS is caused by a genetic problem that is most often passed from the father to the child.

Genetic Material.

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Risk Factors

There are no known risk factors for PWS. A few people with it may have a family history of it.

Symptoms

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
  • Sleepiness

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
  • Fatigue
  • Sleep problems
  • High threshold for pain
  • Problems sensing temperature extremes

Diagnosis

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.

Treatment

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

Prevention

There are no known guidelines to prevent PWS.

RESOURCES:

CANADIAN RESOURCES:

CANADIAN RESOURCES:

References

  • 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.

Contributors

  • Marcin Chwistek, MD
Last Updated:
2022-09-01

(C) Copyright 2022 EBSCO Information Services

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.