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Williams syndrome

From Wikipedia
Williams-Beuren syndrome
developmental defect during embryogenesis, rare disease, designated intractable/rare disease, class of disease
Dem name afterJohn Cyprian Phipps Williams Edit
Discoverer or inventorJohn Cyprian Phipps Williams Edit
Health specialtymedical genetics, pediatrics Edit
Symptoms and signssupravalvular aortic stenosis Edit
External data available at URLhttp://www.nanbyou.or.jp/entry/4765 Edit
ICD-9-CM759.89 Edit
NCI Thesaurus IDC85232 Edit

Williams syndrome (WS), sanso be Williams–Beuren syndrome (WBS), be a genetic disorder wey dey affect chaw parts of de body.[1] Facial features dey frequently include a broad forehead, underdeveloped chin, short nose, den full cheeks.[1] Dem observe mild to moderate intellectual disability, particularly dey challenge plus visual spatial tasks such as drawing. Verbal skills be relatively unaffected.[1] Chaw people get an outgoing personality, a happy disposition, an openness to engaging plus oda people, increased empathy den decreased aggression.[1][2] Medical issues plus teeth, heart problems (especially supravalvular aortic stenosis), den periods of high blood calcium be common.[1][3]

Williams syndrome be caused by a genetic abnormality, specifically a deletion of about 27 genes from de long arm of one of de two chromosome 7s.[1][2] Typically, dis dey occur as a random event during de formation of de egg anaa sperm from wich a person dey develop.[1] Insyd a small number of cases, dem dey inherit am from an affected parent insyd an autosomal dominant manner.[1] Na dem link de different characteristic features to de loss of specific genes.[1] Dem typically dey suspect de diagnosis base on symptoms wey na e be confirmed by genetic testing.[3]

Interventions dey include special education programs den chaw types of therapy.[3] Dem fi do surgery to correct heart problems.[3] Dietary changes anaa medications fi be required for high blood calcium.[3] Na dem first describe de syndrome insyd 1961 by New Zealander John C. P. Williams.[4][5] Williams syndrome dey affect between one insyd 7,500 to 20,000 people at birth.[6] Life expectancy be less dan dat of de general population, mostly secof de increased rates of heart disease.[7]

References

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  1. 1 2 3 4 5 6 7 8 9 Reference, Genetics Home (December 2014). "Williams syndrome". Genetics Home Reference (in English). Archived from the original on 20 January 2017. Retrieved 22 January 2017.
  2. 1 2 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.
  3. 1 2 3 4 5 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.
  4. ↑ 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.
  5. ↑ Dobbs, David (2007-07-08). "The Gregarious Brain". New York Times. Archived from the original on 2008-12-11. Retrieved 2007-09-25.
  6. ↑ 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.
  7. ↑ Riccio, Cynthia A.; Sullivan, Jeremy R.; Cohen, Morris J. (2010). Neuropsychological Assessment and Intervention for Childhood and Adolescent Disorders (in English). John Wiley & Sons. p. 400. ISBN 978-0-470-57033-3.
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