Williams-Beuren syndrome
neurodevelopmental disorder caused by a deletion of around 27 genes in chromosome 7, characterized by a broad forehead, underdeveloped chin, short nose, full cheeks, challenges with visual tasks, increased empathy and decreased aggression
Press Enter · cited answer in seconds
0 sources
Williams-Beuren syndrome
Summary
Williams-Beuren syndrome is a developmental defect during embryogenesis[1]. It ranks in the top 0.65% of developmental_defect_during_embryogenesis entities by monthly Wikipedia readership (10,056 views/month, #2 of 308).[2]
Key Facts
- Williams-Beuren syndrome is credited with the discovery of John Cyprian Phipps Williams[3].
- Williams-Beuren syndrome's instance of is recorded as developmental defect during embryogenesis[4].
- Williams-Beuren syndrome's instance of is recorded as rare disease[5].
- Williams-Beuren syndrome's instance of is recorded as designated intractable/rare disease[6].
- Williams-Beuren syndrome's instance of is recorded as class of disease[7].
- John Cyprian Phipps Williams is named after Williams-Beuren syndrome[8].
- Williams-Beuren syndrome is a type of chromosomal deletion syndrome[9].
- Williams-Beuren syndrome is a type of supravalvular aortic stenosis[10].
- Williams-Beuren syndrome is a type of syndromic developmental defect of the eye[11].
- Williams-Beuren syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability[12].
- Williams-Beuren syndrome is a type of malformation syndrome with short stature[13].
- Williams-Beuren syndrome is a type of genetic hypertension[14].
- Williams-Beuren syndrome is a type of partial deletion of the long arm of chromosome 7[15].
- Williams-Beuren syndrome is a type of rare syndrome with cardiac malformations[16].
- Williams-Beuren syndrome is a type of rare abdominal surgical disease[17].
- Williams-Beuren syndrome is a type of genetic syndromic intellectual disability[18].
- Williams-Beuren syndrome is a type of organic brain syndrome[19].
- Williams-Beuren syndrome is a type of syndromic epicanthus[20].
- Williams-Beuren syndrome is a type of motor stereotypies[21].
- Williams-Beuren syndrome is a type of syndrome[22].
- Williams-Beuren syndrome is a type of autosomal dominant disease[23].
- Williams-Beuren syndrome is a type of disease[24].
- Williams-Beuren syndrome's Commons category is recorded as Williams syndrome[25].
- Williams-Beuren syndrome's symptoms and signs is recorded as supravalvular aortic stenosis[26].
- Williams-Beuren syndrome's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/4765[27].
Body
Works and Contributions
Williams-Beuren syndrome is credited with the discovery of John Cyprian Phipps Williams[3].
Why It Matters
Williams-Beuren syndrome ranks in the top 0.65% of developmental_defect_during_embryogenesis entities by monthly Wikipedia readership (10,056 views/month, #2 of 308).[2] It has Wikipedia articles in 28 language editions, a strong signal of global cultural recognition.[28] It is known by 45 alternative names across languages and contexts.[29]