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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Prader-Willi syndrome


Other Names for this Disease

  • Prader-Labhart-Willi syndrome
  • PWS
  • Willi-Prader syndrome
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Overview

Prader-Willi syndrome (PWS) is a genetic condition that affects many parts of the body. Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow growth. In later infancy or early childhood, affected children typically begin to eat excessively and become obese. Other signs and symptoms often include short stature, hypogonadism, developmental delays, cognitive impairment, and distinctive behavioral characteristics such as temper tantrums, stubbornness, and obsessive-compulsive tendencies. PWS is caused by missing or non-working genes on chromosome 15. Most cases are not inherited and occur randomly. Rarely, a genetic change responsible for PWS can be inherited.[1][2]
Last updated: 1/5/2015

References

  1. Prader-Willi syndrome. Genetics Home Reference. June, 2014; http://ghr.nlm.nih.gov/condition/prader-willi-syndrome. Accessed 1/5/2015.
  2. Driscoll DJ, Miller JL, Schwartz S, and Cassidy SB. Prader-Willi Syndrome. GeneReviews. January 23, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1330/.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Prader-Willi syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Prader-Labhart-Willi syndrome
  • PWS
  • Willi-Prader syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.