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Facial features of williams syndrome

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Added: 29.01.2021
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Williams syndrome WS is a rare genetic disease that causes certain developmental disorders, in addition to other symptoms. It affects one in 20, newborns , according to Puente et al. But what exactly is Williams syndrome? What are its symptoms? What causes it?
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16 Interesting Facts About Williams Syndrome & Symptoms + Causes

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What is Williams syndrome? | Williams Syndrome Association

In the early s, researchers located and identified the genetic mutation responsible for the disorder: the deletion of a small section of chromosome 7 that contains approximately 25 genes. NINDS continues to support WS researchers including, for example, groups that are attempting to link specific genes with the corresponding facial, cognitive, personality, and neurological characteristics of WS. Williams Syndrome WS is a rare genetic disorder characterized by mild to moderate delays in cognitive development or learning difficulties, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety. The most significant medical problem associated with WS is cardiovascular disease caused by narrowed arteries. WS is also associated with elevated blood calcium levels in infancy. A random genetic mutation deletion of a small piece of chromosome 7 , rather than inheritance, most often causes the disorder. However, individuals who have WS have a 50 percent chance of passing it on if they decide to have children.
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Oral findings in Williams-Beuren syndrome

There are several other conditions that cause developmental delay, short stature, distinctive facial appearance and heart disease that are similar to Williams syndrome. They can be differentiated from one another based on specific physical findings as well as genetic studies. They include:. Is there variable expression or incomplete penetrance in Williams syndrome? What are the main symptoms of Williams syndrome?
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A key feature of Prader-Willi syndrome is a constant sense of hunger that usually begins at about 2 years of age. People with Prader-Willi syndrome want to eat constantly because they never feel full hyperphagia , and they usually have trouble controlling their weight. Many complications of Prader-Willi syndrome are due to obesity. Best managed by a team approach, various specialists can work with you to manage symptoms of this complex disorder, reduce the risk of developing complications and improve the quality of life for your loved one with Prader-Willi syndrome. Signs and symptoms of Prader-Willi syndrome can vary among individuals.
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