Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. Facial features frequently include...
52 KB (5,794 words) - 23:58, 11 March 2025
Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome...
135 KB (13,537 words) - 09:47, 12 March 2025
Cyprian Phipps Williams (born 16 November 1922) is a New Zealand cardiologist known for discovering what is now called Williams syndrome in 1961. Born...
7 KB (735 words) - 03:09, 20 February 2025
Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems...
41 KB (4,209 words) - 06:35, 30 December 2024
Central sulcus (section Williams syndrome)
condition known as Williams syndrome. The foreshortening of the central sulcus has been found to be an abnormality associated with this syndrome. This can be...
17 KB (1,989 words) - 15:07, 21 January 2025
Turner syndrome (TS), commonly known as 45,X, or 45,X0, is a chromosomal disorder in which female cells have only one X chromosome instead of two, or are...
80 KB (9,433 words) - 05:40, 9 March 2025
Cytochrome P450 reductase (section Williams syndrome)
disordered drug metabolism may result from deficient POR activity. Williams syndrome is a genetic disorder characterized by the deletion of genetic material...
20 KB (2,455 words) - 05:59, 2 October 2024
Syndromic autism (or syndromic autism spectrum disorders) denotes cases of autism spectrum disorder that are associated with a broader medical condition...
17 KB (1,194 words) - 18:58, 29 December 2024
deletion syndrome 22q11.2 duplication syndrome 22q13 deletion syndrome 2p15-16.1 microdeletion syndrome 2q37 deletion syndrome 3-M syndrome 3C syndrome 3q29...
42 KB (4,068 words) - 16:56, 1 November 2024
Williams–Campbell syndrome (WCS) is a disease of the airways where cartilage in the bronchi is defective. It is a form of congenital cystic bronchiectasis...
10 KB (1,071 words) - 16:34, 2 November 2024
Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome...
13 KB (1,303 words) - 01:48, 5 March 2025
Prader–Willi syndrome Angelman syndrome Neurofibromatosis type I Neurofibromatosis type II Williams syndrome Miller–Dieker syndrome Smith–Magenis syndrome Rubinstein–Taybi...
9 KB (930 words) - 05:41, 11 September 2023
hypoplasia, and patulous lips. It can be associated with Williams syndrome and Donohue syndrome (leprechaunism). K.G, Mathew (2 November 2018). Medicine:...
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joint disorder Tinnitus Tonic tensor tympani syndrome Trigeminal neuralgia Visual snow Williams syndrome The most common cause of hyperacusis is overexposure...
43 KB (4,443 words) - 21:55, 7 February 2025
blindness Williams syndrome Zellweger syndrome The following conditions are caused by changes in the structure or number of copies of chromosome 7: Williams syndrome...
38 KB (2,949 words) - 22:58, 15 September 2024
Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe...
39 KB (4,152 words) - 09:18, 6 February 2025
Facies (medical) (redirect from Syndromic facies)
(also known as "Cushingoid facies") – Cushing's syndrome Elfin facies – Williams syndrome, Donohue syndrome Potter facies – oligohydramnios Mask like facies...
5 KB (378 words) - 15:34, 30 March 2024
one of the two alleles. An example of this is seen in the case of Williams syndrome, a neurodevelopmental disorder caused by the haploinsufficiency of...
11 KB (1,184 words) - 05:48, 11 November 2024
cardiovascular anomalies and is one of the characteristic findings of Williams syndrome. The diagnosis can be made by echocardiography or MRI. Supravalvular...
3 KB (281 words) - 03:29, 30 July 2024
Refeeding syndrome (RFS) is a metabolic disturbance which occurs as a result of reinstitution of nutrition in people who are starved, severely malnourished...
18 KB (2,045 words) - 23:38, 27 February 2025
Zori–Stalker–Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails, is a rare autosomal dominant congenital...
3 KB (175 words) - 19:53, 27 May 2022
Underwood. It tells the story of Callie Truelove, a teenage girl with Williams syndrome, who travels around the United States to raise awareness about the...
7 KB (339 words) - 19:50, 20 August 2023
performance in Gabrielle. Marion-Rivard, who has Williams syndrome, plays a young woman with Williams syndrome who is part of a choir of developmentally disabled...
2 KB (124 words) - 02:34, 12 February 2024
Metabolism. Lippincott Williams & Wilkins. ISBN 978-0-7817-1750-2. Wikimedia Commons has media related to Empty sella syndrome. Scholia has a topic profile...
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horizontal size by fetal alcohol syndrome and in Williams syndrome. The chromosomal conditions trisomy 9 and trisomy 21 (Down syndrome) can cause the palpebral...
3 KB (282 words) - 16:00, 18 May 2024
life. Absolute pitch ability has higher prevalence among those with Williams syndrome and those with an autism spectrum disorder, with claims estimating...
49 KB (5,418 words) - 21:37, 2 March 2025
alongside his Brady Bunch co-stars Barry Williams, Mike Lookinland, Susan Olsen, and Robbie Rist. In 2022, Knight, Williams, and Lookinland competed in season...
16 KB (1,114 words) - 18:08, 13 March 2025
The Specials (TV series) (category Down syndrome in television)
and Lucy, aged between 19 and 23, include individuals with Williams syndrome and Down syndrome. The series premiered on its website on 2 September 2009...
9 KB (773 words) - 23:59, 27 August 2024
gyrus. Abnormalities of the fusiform gyrus have also been linked to Williams syndrome. Fusiform gyrus has also been involved in the perception of emotions...
18 KB (1,969 words) - 04:51, 15 May 2024
Joubert syndrome Karak syndrome Kearns–Sayre syndrome Kinsbourne syndrome Kleine–Levin syndrome Klippel Feil syndrome Krabbe disease Korsakoff Syndrome Kufor–Rakeb...
13 KB (1,143 words) - 17:54, 21 January 2025