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... 143 KB (14,341 words) - 05:54, 1 May 2024 |
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 |
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 (732 words) - 03:08, 12 January 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 |
of medical syndromes. 13q deletion syndrome Cordoba Syndrome 17q21.31 microdeletion syndrome 1p36 deletion syndrome 1q21.1 deletion syndrome 1q21.1 duplication... 42 KB (4,155 words) - 22:50, 9 April 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... 37 KB (3,954 words) - 03:27, 4 May 2024 |
syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome,... 35 KB (3,584 words) - 01:32, 12 March 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 (2,454 words) - 18:50, 20 October 2023 |
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 (1,181 words) - 01:44, 9 February 2024 |
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 |
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) - 22:22, 1 February 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... 5 KB (378 words) - 15:34, 30 March 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 (4,044 words) - 22:08, 24 March 2024 |
expert in developmental disorders, with a particular interest in Williams syndrome. Karmiloff-Smith argued against approaches that take a modality-specific... 7 KB (668 words) - 11:57, 6 January 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) - 07:24, 6 November 2023 |
Bachmann Industries J.H. Williams Tool Group, a manufacturer of industrial tools Williams (film), a 2017 film Williams syndrome, a developmental disorder... 3 KB (332 words) - 15:33, 8 March 2024 |
Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. As the presence of a Y chromosome denotes... 45 KB (4,601 words) - 21:35, 4 May 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) - 23:16, 31 March 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 |
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 (2,486 words) - 17:30, 29 April 2024 |
Zimmerman–Laband syndrome Zinc deficiency Zinc toxicity Zlotogora syndrome Zollinger–Ellison syndrome Zonular cataract and nystagmus Zori–Stalker–Williams syndrome Zunich–Kaye... 660 bytes (94 words) - 17:26, 14 March 2022 |
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies... 49 KB (5,809 words) - 00:22, 14 April 2024 |