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Genetics Home Reference: your guide to understanding genetic conditions
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Williams syndrome

Reviewed December 2014

What is Williams syndrome?

Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.

People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals have outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common among people with this disorder.

Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips. Many affected people have dental problems such as teeth that are small, widely spaced, crooked, or missing. In older children and adults, the face appears longer and more gaunt.

A form of cardiovascular disease called supravalvular aortic stenosis (SVAS) occurs frequently in people with Williams syndrome. Supravalvular aortic stenosis is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). If this condition is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and heart failure. Other problems with the heart and blood vessels, including high blood pressure (hypertension), have also been reported in people with Williams syndrome.

Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems and soft, loose skin. Affected people may also have increased calcium levels in the blood (hypercalcemia) in infancy, developmental delays, problems with coordination, and short stature. Medical problems involving the eyes and vision, the digestive tract, and the urinary system are also possible.

How common is Williams syndrome?

Williams syndrome affects an estimated 1 in 7,500 to 10,000 people.

What are the genetic changes related to Williams syndrome?

Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes 26 to 28 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder.

CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that loss of the ELN gene is associated with the connective tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis) found in many people with this disease. Studies suggest that deletion of CLIP2, GTF2I, GTF2IRD1, LIMK1, and perhaps other genes may help explain the characteristic difficulties with visual-spatial tasks, unique behavioral characteristics, and other cognitive difficulties seen in people with Williams syndrome. Loss of the GTF2IRD1 gene may also contribute to the distinctive facial features often associated with this condition.

Researchers believe that the presence or absence of the NCF1 gene on chromosome 7 is related to the risk of developing hypertension in people with Williams syndrome. When the NCF1 gene is included in the part of the chromosome that is deleted, affected individuals are less likely to develop hypertension. Therefore, the loss of this gene appears to be a protective factor. People with Williams syndrome whose NCF1 gene is not deleted have a higher risk of developing hypertension.

The relationship between other genes in the deleted region of chromosome 7 and the signs and symptoms of Williams syndrome is under investigation or unknown.

Related Chromosome(s)

Changes involving this chromosome are associated with Williams syndrome.

  • chromosome 7

Related Gene(s)

Changes in these genes are associated with Williams syndrome.

  • ABHD11
  • BAZ1B
  • BCL7B
  • CLDN3
  • CLDN4
  • CLIP2
  • DNAJC30
  • EIF4H
  • ELN
  • FKBP6
  • FZD9
  • GTF2I
  • GTF2IRD1
  • GTF2IRD2
  • LAT2
  • LIMK1
  • MLXIPL
  • NCF1
  • NSUN5
  • RFC2
  • STX1A
  • TBL2
  • TRIM50
  • VPS37D
  • WBSCR22
  • WBSCR27
  • WBSCR28

Can Williams syndrome be inherited?

Most cases of Williams syndrome are not inherited but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. These cases occur in people with no history of the disorder in their family.

Williams syndrome is considered an autosomal dominant condition because one copy of the altered chromosome 7 in each cell is sufficient to cause the disorder. In a small percentage of cases, people with Williams syndrome inherit the chromosomal deletion from a parent with the condition.

Where can I find information about diagnosis or management of Williams syndrome?

These resources address the diagnosis or management of Williams syndrome and may include treatment providers.

  • Gene Review: Williams Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1249)
  • Genetic Testing Registry: Williams syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0175702)
  • MedlinePlus Encyclopedia: Williams Syndrome (http://www.nlm.nih.gov/medlineplus/ency/article/001116.htm)

You might also find information on the diagnosis or management of Williams syndrome in Educational resources (http://ghr.nlm.nih.gov/condition/williams-syndrome/show/Educational+resources) and Patient support (http://ghr.nlm.nih.gov/condition/williams-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Williams syndrome?

You may find the following resources about Williams syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Williams syndrome?

  • Beuren syndrome
  • elfin facies syndrome
  • elfin facies with hypercalcemia
  • hypercalcemia-supravalvar aortic stenosis
  • infantile hypercalcemia
  • supravalvar aortic stenosis syndrome
  • WBS
  • Williams-Beuren syndrome
  • WMS
  • WS

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Williams syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/gard).

What glossary definitions help with understanding Williams syndrome?

anxiety ; aorta ; attention deficit disorder ; autosomal ; autosomal dominant ; calcium ; cardiovascular ; cell ; chromosome ; connective tissue ; contiguous ; contiguous gene syndrome ; critical region ; deletion ; digestive ; disability ; gene ; heart failure ; hypercalcemia ; hypertension ; inherit ; inherited ; joint ; reproductive cells ; short stature ; sperm ; stature ; stenosis ; syndrome ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Bhattacharjee Y. Friendly faces and unusual minds. Science. 2005 Nov 4;310(5749):802-4. (http://www.ncbi.nlm.nih.gov/pubmed/16272111?dopt=Abstract)
  • Carrasco X, Castillo S, Aravena T, Rothhammer P, Aboitiz F. Williams syndrome: pediatric, neurologic, and cognitive development. Pediatr Neurol. 2005 Mar;32(3):166-72. (http://www.ncbi.nlm.nih.gov/pubmed/15730896?dopt=Abstract)
  • Del Campo M, Antonell A, Magano LF, Muñoz FJ, Flores R, Bayés M, Pérez Jurado LA. Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. Am J Hum Genet. 2006 Apr;78(4):533-42. Epub 2006 Jan 31. (http://www.ncbi.nlm.nih.gov/pubmed/16532385?dopt=Abstract)
  • Eckert MA, Galaburda AM, Mills DL, Bellugi U, Korenberg JR, Reiss AL. The neurobiology of Williams syndrome: cascading influences of visual system impairment? Cell Mol Life Sci. 2006 Aug;63(16):1867-75. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16810457?dopt=Abstract)
  • Gene Review: Williams Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1249)
  • Mervis CB, Becerra AM. Language and communicative development in Williams syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(1):3-15. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17326109?dopt=Abstract)
  • Meyer-Lindenberg A, Hariri AR, Munoz KE, Mervis CB, Mattay VS, Morris CA, Berman KF. Neural correlates of genetically abnormal social cognition in Williams syndrome. Nat Neurosci. 2005 Aug;8(8):991-3. Epub 2005 Jul 10. (http://www.ncbi.nlm.nih.gov/pubmed/16007084?dopt=Abstract)
  • Meyer-Lindenberg A, Mervis CB, Berman KF. Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour. Nat Rev Neurosci. 2006 May;7(5):380-93. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16760918?dopt=Abstract)
  • Pober BR, Morris CA. Diagnosis and management of medical problems in adults with Williams-Beuren syndrome. Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):280-90. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17639596?dopt=Abstract)
  • Pober BR. Williams-Beuren syndrome. N Engl J Med. 2010 Jan 21;362(3):239-52. doi: 10.1056/NEJMra0903074. Review. Erratum in: N Engl J Med. 2010 Jun 3;362(22):2142. (http://www.ncbi.nlm.nih.gov/pubmed/20089974?dopt=Abstract)
  • Schubert C. The genomic basis of the Williams-Beuren syndrome. Cell Mol Life Sci. 2009 Apr;66(7):1178-97. doi: 10.1007/s00018-008-8401-y. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19039520?dopt=Abstract)
  • Tassabehji M, Hammond P, Karmiloff-Smith A, Thompson P, Thorgeirsson SS, Durkin ME, Popescu NC, Hutton T, Metcalfe K, Rucka A, Stewart H, Read AP, Maconochie M, Donnai D. GTF2IRD1 in craniofacial development of humans and mice. Science. 2005 Nov 18;310(5751):1184-7. Epub 2005 Nov 3. (http://www.ncbi.nlm.nih.gov/pubmed/16293761?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: December 2014
Published: March 23, 2015