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Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. [2] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. [ 2 ]
Supravalvular aortic stenosis is associated with genetic damage at the Elastin gene locus on chromosome 7q11.23. [1] Fluorescent in situ hybridisation techniques have revealed that 96% of patients with Williams syndrome, where supravalvular aortic stenosis is characteristic, have a hemizygous deletion of the Elastin gene. [2]
Williams syndrome is caused by the deletion of genetic material from a portion of the long (q) arm of chromosome 7. The deleted region, which is located at position 11.23 (written as 7q11.23), is designated as the Williams syndrome critical region.
Wendy Williams' health is the focus of a new documentary. Here's what to know about her aphasia, dementia and feet disorder aka lymphedema.
Nearly 2.3 million people are estimated to be living with multiple sclerosis around the world, but when Montel Williams received his official diagnosis back in 1999, not much was known about the ...
Williams, who also has Graves' disease and lymphedema, was diagnosed in 2023 after she “began to lose words, act erratically at times and have difficulty understanding financial transactions ...
Examples of facial features characteristic of Williams Syndrome. Elfin (Elven) facies is the form of facies in which the patient has facial characteristics like those traditionally associated with elves. It is characterized by a prominent forehead, widely spaced eyes, an upturned nose, an underdeveloped mandible, dental hypoplasia, and patulous ...
Mean world syndrome; Meckel syndrome; ... Zori–Stalker–Williams syndrome This page was last edited on 1 November 2024, at 16:56 (UTC). Text is available under the ...