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Genetic and Rare Diseases Information Center (GARD)

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Williams syndrome


Other Names for this Disease
  • WBS
  • Williams-Beuren syndrome
  • WMS
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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.[3]
Last updated: 11/16/2011

References

  1. Williams syndrome. Genetics Home Reference (GHR). March 2008; http://ghr.nlm.nih.gov/condition/williams-syndrome. Accessed 11/16/2011.
  2. Jasmin L. Williams syndrome. MedlinePlus. October 2009; http://www.nlm.nih.gov/medlineplus/ency/article/001116.htm. Accessed 11/16/2011.
  3. NINDS Williams Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). September 9, 2008; http://www.ninds.nih.gov/disorders/williams/williams.htm. Accessed 11/16/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

2 question(s) from the public on Williams syndrome have been answered. See questions and answers. You can also submit a new question.

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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

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.
  • The Online Mendelian Inheritance in Man (OMIM) is an 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.