Williams syndrome

Williams syndrome is a genetic disorder that affects many parts of the body.[1] The condition can cause facial features like a broad forehead, small chin, wide mouth, full cheeks, and a short, upturned nose,[2] which have sometimes been described as “elfin” (elf-like).[3] It usually causes a mild to moderate intellectual disability,[1] which affects how people think and learn, and may especially affect visual spatial tasks like drawing.[1] People with Williams syndrome usually have good verbal skills (speech) but often take longer than other children to learn how to speak.[2] Many people with the condition have an outgoing and happy personality, enjoy socializing, and have a lot of empathy.[1][4] Medical issues such as heart problems, teeth problems, and high blood calcium are common.[5][1]

Williams syndrome is caused when one of about 27 genes is deleted from the long arm of one of the two copies of chromosome 7.[1][4] This is usually a random event that happens when the sperm or egg that a person develops from is being formed.[1] The different traits of Williams syndrome have been linked to the loss of specific genes.[1] The diagnosis is usually suspected based on symptoms and proven by genetic testing.[5]

The syndrome was first described in 1961 by New Zealander John C. P. Williams.[6][7] It is a rare condition; around one in 7,500 to 20,000 people are born with it.[4] Those with Williams syndrome have a lower life expectancy (number of years they are expected to live) than the general population, mostly because they are more likely to have heart disease.[8]

References

  1. 1 2 3 4 5 6 7 8 Reference, Genetics Home (December 2014). "Williams syndrome". Genetics Home Reference. Archived from the original on 20 January 2017. Retrieved 2025-12-21. This article incorporates text from this source, which is in the public domain.
  2. 1 2 "Williams Syndrome - Developmental and Behavioral Pediatrics - Golisano Children's Hospital - University of Rochester Medical Center". www.urmc.rochester.edu. Retrieved 2025-12-21.
  3. ↑ Latson, Jennifer. "How a Real Genetic Disorder Could Have Inspired Fairy Tales". TIME. Archived from the original on 2025-07-22. Retrieved 2025-12-21.
  4. 1 2 3 Martens, Marilee A.; Wilson, Sarah J.; Reutens, David C. (2008). "Research Review: Williams syndrome: A critical review of the cognitive, behavioral, and neuroanatomical phenotype". Journal of Child Psychology and Psychiatry. 49 (6): 576–608. doi:10.1111/j.1469-7610.2008.01887.x. PMID 18489677.
  5. 1 2 Morris, CA; Pagon, RA; Adam, MP; Ardinger, HH; Wallace, SE; Amemiya, A; Bean, LJH; Bird, TD; Ledbetter, N; Mefford, HC; Smith, RJH; Stephens, K (2013). "Williams Syndrome". GeneReviews. PMID 20301427.
  6. ↑ Lenhoff, Howard M.; Teele, Rita L.; Clarkson, Patricia M.; Berdon, Walter E. (2010). "John C. P. Williams of Williams-Beuren syndrome". Pediatric Radiology. 41 (2): 267–9. doi:10.1007/s00247-010-1909-y. PMID 21107555. S2CID 206933052.
  7. ↑ Dobbs, David (2007-07-08). "The Gregarious Brain". New York Times. Archived from the original on 2008-12-11. Retrieved 2025-12-21.
  8. ↑ Riccio, Cynthia A.; Sullivan, Jeremy R.; Cohen, Morris J. (2010). Neuropsychological Assessment and Intervention for Childhood and Adolescent Disorders. John Wiley & Sons. p. 400. ISBN 978-0-470-57033-3.
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