|
Williams syndrome (WS), also known as Williams–Beuren syndrome (WBS), is a rare neurodevelopmental disorder characterized by: a distinctive, "elfin" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems, such as supravalvular aortic stenosis and transient high blood calcium. It is caused by a deletion of about 26 genes from the long arm of chromosome 7.〔 It occurs in 1 in 7,500 to 1 in 20,000 births. The syndrome was first identified in 1961 by New Zealander J.C.P. Williams. ==Signs and symptoms== The most common symptoms of Williams syndrome are heart defects, and unusual facial features. Other symptoms include failure to gain weight appropriately in infancy (failure to thrive) and low muscle tone. Individuals with Williams syndrome tend to have widely spaced teeth, a long philtrum, and a flattened nasal bridge. Most individuals with Williams syndrome are highly verbal relative to their IQ, and are overly sociable, having what has been described as a "cocktail party" type personality.〔 Individuals with WS hyperfocus on the eyes of others in social engagements. It is in some respect the opposite of autism; individuals with WS are more sociable than those with autism, but those with WS have impairment in cognitive function as it relates to visuospatial functioning. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Williams syndrome」の詳細全文を読む スポンサード リンク
|