威廉氏症候群Williams syndrome

https://en.wikipedia.org/wiki/Wikipedia:WikiProject_Medicine/Translation_task_force/RTT/Simple_Williams_syndrome

https://zh.wikipedia.org/wiki/%E5%A8%81%E5%BB%89%E6%B0%8F%E7%97%87%E5%80%99%E7%BE%A4

Williams syndrome (WS) is a developmental disorder that affects many parts of the body.[4] Facial features frequently include a broad forehead, short nose, and full cheeks, an appearance which has been described as "elfin".[4][3] Mild to moderate intellectual disability with particular problems with visual spatial tasks such as drawing and less problems with language are typical.[4] Those affected often have an outgoing personality and interact readily with strangers.[4][3] Problems with teeth, heart problems, especially supravalvular aortic stenosis, and periods of high blood calcium are common.[4][2]

威廉氏症候群(Williams syndrome, 簡稱WS),係指一種對身體各部位皆有影響的[[發展障礙]][4],面部常見特徵包含寬額頭、短鼻子、大範圍的笑肌,外型常被形容為像 "elfin矮人"[4][3]。典型的輕度到中度[[智能障礙]]伴隨有[[visual spatial tasks(空間視覺化能力)]]的特定問題,如繪畫,對話上的問題相對較少[4],患者常見[[個性]]外向,與陌生人的互動極快[4][3],威廉氏症候群患者常見有牙齒、[[心血管疾病]],尤其是[[supravalvular aortic stenosis(主動脈瓣上狹窄)]]及[[high blood calcium(高血鈣)]]期等疾患[4][2]

Williams syndrome is caused by a genetic problem, specifically a deletion of about 27 genes from the long arm of chromosome 7.[3][4] 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 parents in an autosomal dominant manner. The different characteristic features have been linked to the loss of specific genes.[4] The diagnosis is typically suspected based on symptoms and confirmed by genetic testing.[2]

威廉氏症候群是一種[[genetic problem(遺傳疾患)]],尤其是因為[[7號染色體]]的長臂從27對染色體中被[[刪除(遺傳學]])[3][4]而發生,此狀況通常是卵子或精子在形成人時的發生的偶發事件;在少數病例中,威廉氏症候群是[[遺傳]]自[[顯性]]患病的父母;患者的特殊面部特徵常被認為是缺失了特定的[[基因]][4],通常確診是基於症狀引起懷疑,並透過[[基因檢測]]以確認患病。[2]

Treatment 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.[2] The syndrome was first described in 1961 by New Zealander John C. P. Williams.[5][6] Williams syndrome affects between 1 in 7,500 to 1 in 20,000 people at birth.[3] Life expectancy is less than that of the general population mostly due to the increased rates of heart disease.[7]

治療方式包含[[特殊教育]]及各種形式的[[療法]],手術僅被用於治療心臟疾病,當患者有高血鈣時才需要改變飲食或施以藥物治療[2]。威廉氏症候群的症狀首見於出現紐西蘭心臟學家之口[5][6],平均在7500到20000位新生兒裡會出現一位患者[3],患者的[[預期壽命]]較一般人為短,是因為心血管疾病的風險增加之故。[7]