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According to the Williams Syndrome Association, its diagnosis begins with the recognition of physical symptoms and markers, which is followed by a confirmatory genetic test. The physical signs that often indicate a suspected case of WS include puffiness around the eyes, a long philtrum, and a stellate pattern in the iris.
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]
Wiedemann–Rautenstrauch syndrome; Wildervanck syndrome; Williams syndrome; Williams–Campbell syndrome; Wilson's temperature syndrome; Wilson–Mikity syndrome; Wilson–Turner syndrome; Winchester syndrome; Winter-over syndrome; Wiskott–Aldrich syndrome; Wissler's syndrome; Withdrawal syndrome; Withering abalone syndrome; Wobbly hedgehog ...
In a review of the symptoms and features of the syndrome, Laskari, Smith and Graham emphasized that some family members of individuals with Williams syndrome typically reject use of terminology such as "elfin", as well as descriptions of social symptoms as "cocktail party syndrome". Physicians, family members of individuals with Williams ...
Aarskog syndrome; Williams syndrome; Noonan syndrome; Dubowitz syndrome; Brachman-DeLange syndrome; Toluene syndrome; Fetal hydantoin syndrome; Fetal valproate syndrome; Maternal PKU fetal effects; Other disorders that have overlapping behavioral symptoms that might be comorbid to fetal alcohol spectrum disorder might include: [97]
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In her new Lifetime documentary, Wendy Williams discusses her lymphedema diagnosis, which has resulted in limited sensation in her swollen feet.
Enlarged vestibular aqueducts can also occur in branchio-oto-renal syndrome, CHARGE syndrome and renal tubular acidosis. Enlarged vestibular aqueducts can be bilateral or unilateral. Hearing loss caused by large vestibular aqueduct syndrome is not inevitable, although people with the syndrome are at a much higher risk of developing hearing loss ...