Williams syndrome - Definition

Williams syndrome (Williams-Beuren syndrome) is a rare genetic disorder, occurring in fewer than 1 in every 20,000 live births. It is characterized by a distinctive, "elfin" facial appearance, an unusually cheerful demeanor, ease with strangers, mental retardation coupled with an unusual facility with language, a love for music, cardiovascular problems such as supravalvular aortic stenosis, and hypercalcemia. Most children with Williams syndrome are missing about 21 genes on chromosome 7. It shares some features with autism, although Williams syndrome children generally possess very good social skills, to the point that this condition is sometimes called "cocktail party syndrome".

See also

• Donohue Syndrome

External links

• Williams Syndrome Association (http://www.williams-syndrome.org)
• Williams-Beuren syndrome at Online Mendelian Inheritance in Man (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=194050)
• Rare Deficit Maps Thinking Circuitry (http://www.sciencedaily.com/releases/2004/09/040902090929.htm)
• Williams Syndrome and Savant Syndrome (http://www.wisconsinmedicalsociety.org/savant/willsynd.cfm)
• Summary of Discussion of Williams Syndrome, Autism, and Consciousness (http://www.udel.edu/billf/willautconsc.html)