Williams syndrome (WS) is a genetic disorder that affects many parts of the body. Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. Mild to moderate intellectual disability is observed in people with WS, with particular challenges with visual spatial tasks such as drawing. Verbal skills are relatively unaffected. Many people with WS have an outgoing personality, an openness to engaging with other people, and a happy disposition. Medical issues with teeth, heart problems (especially supravalvular aortic stenosis), and periods of high blood calcium are common.Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s. Typically, this occurs as a random event during the formation of the egg or sperm from which a person develops. In a small number of cases, it is inherited from an affected parent in an autosomal dominant manner. The different characteristic features have been linked to the loss of specific genes. The diagnosis is typically suspected based on symptoms and confirmed by genetic testing.Treatment of WS includes special education programs and various types of therapy. Surgery may be done to correct heart problems. Dietary changes or medications may be required for high blood calcium. The syndrome was first described in 1961 by New Zealander John C. P. Williams. Williams syndrome affects between one in 20,000 and one in 7,500 people at birth.
Musolino, Julien; Landau, Barbara (2012). "Genes, language, and the nature of scientific explanations: The case of Williams syndrome". Cognitive Neuropsychology (Review). 29 (1–2): 123–48. doi:10.1080/02643294.2012.702103. PMC 3478137. PMID 23017087. Books
Latson, Jennifer (2017). The Boy Who Loved Too Much: A True Story of Pathological Friendliness. Simon & Schuster. ISBN 978-1476774046. Films
THE MAYOR: A Chronicle of Williams Syndrome, with Josh Duffy

External links

GeneReview entry on Williams syndrome


== References ==