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Diseases

Genetic and Rare Diseases Information Center (GARD)

Williams syndrome


Other Names for this Disease
  • Williams-Beuren syndrome
  • WBS
  • WMS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.[1] Williams syndrome is caused by missing genes from a specific region of chromosome 7.[1][2] The deleted region includes more than 25 genes and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder.[1] Although Williams syndrome is considered an autosomal dominant condition, most cases are not inherited, but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual.[1][3]
Last updated: 12/29/2015

References

  1. Williams syndrome. Genetics Home Reference (GHR). December 2014; http://ghr.nlm.nih.gov/condition/williams-syndrome. Accessed 12/29/2015.
  2. Haldeman-Englert C. Williams syndrome. MedlinePlus. October 2013; http://www.nlm.nih.gov/medlineplus/ency/article/001116.htm. Accessed 12/29/2015.
  3. NINDS Williams Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). June 30, 2015; http://www.ninds.nih.gov/disorders/williams/williams.htm. Accessed 12/29/2015.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Williams syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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 Williams syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Williams-Beuren syndrome
  • WBS
  • WMS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.