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Disease at a Glance. Summary. Williams syndrome is a genetic condition that affects many parts of the body. Signs and symptoms include mild to moderate intellectual disability; unique personality traits; distinctive facial features; and heart and blood vessel problems. Williams syndrome is caused by a person missing more than 25 genes from a ...
- Williams syndrome | Getting a Diagnosis | GARD - Genetic and Rare ...
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- Williams Syndrome | National Institute of Neurological ...
Williams syndrome (WS) is a rare genetic disorder. People...
- Williams syndrome | Getting a Diagnosis | GARD - Genetic and Rare ...
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Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age. Such characteristic facial feat...
Williams syndrome may also be associated with heart (cardiac) defects, abnormally increased levels of calcium in the blood during infancy (infantile hypercalcemia), musculoskeletal defects, and/or other abnormalities. Cardiac defects may include obstruction of proper blood flow from the lower right chamber (ventricle) of the heart to the lungs (pul...
In most individuals with Williams syndrome, the disorder appears to occur spontaneously for unknown reasons (sporadically). However, familial cases have also been reported. Sporadic and familial cases are thought to result from deletion of genetic material from adjacent genes (contiguous genes) within a specific region of chromosome 7 (7q11.23).
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Williams Syndrome is a rare congenital disorder that occurs randomly and affects around one in 18,000 people in the UK. It is non-hereditary and causes distinctive facial characteristics and a wide range of learning difficulties. Infants often have delayed development and can develop physical and mental health problems, including anxiety and ...
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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 ] Mild to moderate intellectual disability is observed, particularly challenges with visual spatial tasks such ...
th anniversary of the Williams Syndrome Foundation and to raise awareness of Williams syndrome, we have put together 40 research-evidenced facts about Williams syndrome. Williams Syndrome is a rare genetic condition that is caused by a deletion of genetic material on the long arm of chromosome 7. It occurs sporadically in about 1 in 18,000 people.
Dec 10, 2021 · Williams syndrome is a rare genetic condition characterized by unique physical features, delays in cognitive development and potential cardiovascular problems. Children born with Williams syndrome can have a normal life expectancy but may develop side effects from the condition that can affect their prognosis.
Jul 19, 2024 · Williams syndrome (WS) is a rare genetic disorder. People with WS may have mild to moderate delays in their cognitive development (ability to think and reason) or learning difficulties. They also may have a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety.
