Prader-Willi Syndrome

Summary

Prader-Willi Syndrome (PWS) is a rare genetic disorder. It causes poor muscle tone, low levels of sex hormones and a constant feeling of hunger. The part of the brain that controls feelings of fullness or hunger does not work properly in people with PWS. They overeat, leading to obesity.

Babies with PWS are usually floppy, with poor muscle tone, and have trouble sucking. Boys may have undescended testicles. Later, other signs appear. These include

• Short stature
• Poor motor skills
• Weight gain
• Underdeveloped sex organs
• Mild intellectual and learning disabilities

There is no cure for PWS. Growth hormone, exercise, and dietary supervision can help build muscle mass and control weight. Other treatments may include sex hormones and behavior therapy. Most people with PWS will need specialized care and supervision throughout their lives.

NIH: National Institute of Child Health and Human Development

Resources

• Genes and Disease: Prader-Willi Syndrome (National Center for Biotechnology Information)
• How Do Health Care Providers Diagnose Prader-Willi Syndrome? (National Institute of Child Health and Human Development) Also in Spanish
• Prader-Willi Syndrome (Mayo Foundation for Medical Education and Research)
• Prader-Willi Syndrome (PWS): Condition Information (National Institute of Child Health and Human Development) Also in Spanish
• Prader-Willi Syndrome (PWS): Other FAQs (National Institute of Child Health and Human Development)
• Prader-Willi Syndrome: Frequently Asked Questions (Prader-Willi Syndrome Association)
• What Are the Symptoms of Prader-Willi Syndrome? (National Institute of Child Health and Human Development) Also in Spanish
• What Are the Treatments for Prader-Willi Syndrome? (National Institute of Child Health and Human Development) Also in Spanish
• What Causes Prader-Willi Syndrome? (National Institute of Child Health and Human Development) Also in Spanish

Genetics

• Genetics Home Reference: Prader-Willi syndrome (National Library of Medicine)

Clinical Trials

• ClinicalTrials.gov: Prader-Willi Syndrome (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

• Article: Cellular and disease functions of the Prader-Willi Syndrome gene MAGEL2.
• Article: Oxytocin treatment in children with Prader-Willi syndrome: A double-blind, placebo-controlled,...
• Article: The use of magnetic resonance imaging to characterize abnormal body...
• Prader-Willi Syndrome -- see more articles

Patient Handouts

• Prader-Willi syndrome (Medical Encyclopedia) Also in Spanish