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 (5,760 words) - 22:31, 21 October 2024
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...
148 KB (14,786 words) - 23:22, 21 November 2024
Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems...
41 KB (4,206 words) - 02:06, 14 September 2024
Turner syndrome (TS), commonly known as 45,X, or 45,X0, is a chromosomal disorder in which cells have only one X chromosome or are partially missing an...
80 KB (9,487 words) - 08:05, 19 November 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) - 15:55, 19 February 2024
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
Cyprian Phipps Williams (born 16 November 1922) is a New Zealand cardiologist known for discovering what is now called Williams syndrome in 1961. Born...
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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
Prader–Willi syndrome Angelman syndrome Neurofibromatosis type I Neurofibromatosis type II Williams syndrome Miller–Dieker syndrome Smith–Magenis syndrome Rubinstein–Taybi...
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hypoplasia, and patulous lips. It can be associated with Williams syndrome and Donohue syndrome (leprechaunism). K.G, Mathew (2 November 2018). Medicine:...
2 KB (125 words) - 15:24, 30 March 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 (4,129 words) - 06:22, 19 October 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
Watson syndrome Weaver–Johnson syndrome Weaver-like syndrome Weaver syndrome Weaver–Williams syndrome Weber–Parkes syndrome Weber–Sturge–Dimitri syndrome Weber–Christian...
5 KB (439 words) - 17:45, 14 March 2022
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 (1,304 words) - 03:24, 25 September 2024
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
Zimmerman–Laband syndrome Zinc deficiency Zinc toxicity Zlotogora syndrome Zollinger–Ellison syndrome Zonular cataract and nystagmus Zori–Stalker–Williams syndrome Zunich–Kaye...
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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
Refeeding syndrome (RFS) is a metabolic disturbance which occurs as a result of reinstitution of nutrition in people who are starved, severely malnourished...
16 KB (1,951 words) - 16:12, 21 November 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
Bachmann Industries J.H. Williams Tool Group, a manufacturer of industrial tools Williams (film), a 2017 film Williams syndrome, a developmental disorder...
3 KB (345 words) - 02:24, 6 September 2024
Möbius syndrome or Moebius syndrome is a rare congenital neurological disorder which is characterized by facial paralysis and the inability to move the...
17 KB (2,082 words) - 02:05, 19 October 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
Signs and symptoms (section Syndrome)
like those of the elf, and this may be associated with Williams syndrome, or Donohue syndrome. The most well-known facies is probably the Hippocratic...
40 KB (3,983 words) - 08:32, 11 November 2024
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...
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syndrome, a syndrome characterized by broad thumbs, facial abnormalities, and big toes alongside moderate to severe intellectual disability. Williams...
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syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome,...
34 KB (3,528 words) - 20:30, 29 October 2024
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
Front of the Class (category Films about Tourette syndrome)
Tourette Syndrome Made Me the Teacher I Never Had by Brad Cohen and co-authored by Lisa Wysocky, which tells of Cohen's life with Tourette syndrome and how...
12 KB (1,328 words) - 17:40, 20 November 2024
Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder characterized by a group of symptoms that commonly include abdominal pain, abdominal...
126 KB (13,796 words) - 03:35, 21 November 2024
Hypotonia (redirect from Floppy Baby Syndrome)
Autosomal recessive Wiedemann–Steiner syndrome Williams syndrome Zellweger syndrome a.k.a. cerebrohepatorenal syndrome Developmental disability Cerebellar ataxia...
22 KB (2,495 words) - 18:35, 28 October 2024