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
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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 (16,233 views/month, #2 of 308).[2]
Key Facts
- Discoverer or inventor: John Cyprian Phipps Williams[3]
- Instance of: rare disease[4], designated intractable/rare disease[5], class of disease[6]
- Named after: John Cyprian Phipps Williams[7]
- Subclass of: chromosomal deletion syndrome[8], supravalvular aortic stenosis[9], syndromic developmental defect of the eye[10], multiple congenital anomalies/dysmorphic syndrome-intellectual disability[11], malformation syndrome with short stature[12], genetic hypertension[13], partial deletion of the long arm of chromosome 7[14], rare syndrome with cardiac malformations[15], rare abdominal surgical disease[16], genetic syndromic intellectual disability[17], organic brain syndrome[18], syndromic epicanthus[19], motor stereotypies[20], syndrome[21]
- Commons category: Williams syndrome[22]
- Symptoms and signs: supravalvular aortic stenosis[23]
- External data available at URL: http://www.nanbyou.or.jp/entry/4765[24]
- ICD-9-CM: 759.89[25]
- NCI Thesaurus ID: C85232[26]
- Health specialty: medical genetics[27], pediatrics[28]
- Exact match: http://purl.obolibrary.org/obo/DOID_1928[29], http://identifiers.org/doid/DOID:1928[30], http://www.orpha.net/ORDO/Orphanet_904[31]
- On focus list of Wikimedia project: WikiProject Medicine[32]
Why It Matters
Williams-Beuren syndrome has Wikipedia articles in 28 language editions, a strong signal of global cultural recognition.[33] It is known by 71 alternative names across languages and contexts.[34]