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]
Williams Syndrome Media
Several people with the characteristic facial features of Williams Syndrome.
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 Reference, Genetics Home. Williams syndrome (in en). Genetics Home Reference (December 2014). Retrieved 2025-12-21.
This article incorporates text from this source, which is in the public domain.
- ↑ 2.0 2.1 Williams Syndrome - Developmental and Behavioral Pediatrics - Golisano Children's Hospital - University of Rochester Medical Center. www.urmc.rochester.edu. Retrieved 2025-12-21.
- ↑ Latson, Jennifer. "How a Real Genetic Disorder Could Have Inspired Fairy Tales" (in en). TIME. https://time.com/4823574/mythology-williams-syndrome/. Retrieved 2025-12-21.
- ↑ 4.0 4.1 4.2 Martens, Marilee A.. Research Review: Williams syndrome: A critical review of the cognitive, behavioral, and neuroanatomical phenotype. Journal of Child Psychology and Psychiatry 49 (6) (2008). p. 576–608. doi:10.1111/j.1469-7610.2008.01887.x.
- ↑ 5.0 5.1 Morris, CA. Williams Syndrome. GeneReviews (2013).
- ↑ Lenhoff, Howard M.. John C. P. Williams of Williams-Beuren syndrome. Pediatric Radiology 41 (2) (2010). p. 267–9. doi:10.1007/s00247-010-1909-y.
- ↑ Dobbs, David (2007-07-08). The Gregarious Brain. https://www.nytimes.com/2007/07/08/magazine/08sociability-t.html. Retrieved 2025-12-21.
- ↑ Riccio, Cynthia A.. Neuropsychological Assessment and Intervention for Childhood and Adolescent Disorders (in en) (2010)John Wiley & Sons. p. 400. ISBN 978-0-470-57033-3.