Williams Syndrome is a genetic disorder characterized by developmental delays and certain medical conditions such as heart problems and low muscle tone. Musculoskeletal abnormalities associated with Williams syndrome may include depression of the breastbone (pectus excavatum), abnormal side-to-side or front-to-back curvature of the spine (scoliosis or kyphosis), or an awkward gait. 2 min read. They pet it. Stanford Childrens Health is known as a national and international leader in treating Williams syndrome, seeing children from around the world and treating some of the most complex cases. Another test, known as fluorescent in situ hybridization [FISH], may be used to determine whether a deletion of one elastin gene on chromosome 7 is present. Williams syndrome is known by a variety of names. Some of them are Beuren syndrome, Williams-Beuren syndrome, Elfin Facies syndrome, and infantile hypercalcemia. These names all refer to the cluster of developmental and health problems associated with Williams syndrome. Show More. Symptoms may vary depending on environmental factors and typically worsen when sustained attention is required. "Little babies will come up to you, they will stare into your face, and it will be hard to actually disengage from that stare," explained Helen Tager-Flusberg whose lab at Boston University studies the social behavior of children with Williams. 15th ed. Neuro. Most cases of Williams syndrome appear to occur spontaneously (sporadically) for unknown reasons. NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations. Hallidie-Smith KA, et al. Friendly to the Extreme: Meet Kids and Adults With Williams Syndrome, Williams Beuren Syndrome:
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