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Williams-Beuren Syndrome

2023-04-03 18:06:40

William Syndrome (WS) or Williams Beuren Syndrome (WBS) are present at birth and are genetically derived symptoms equally affecting men and women. People with this syndrome have persistent medical problems that may include cardiovascular disease, developmental disability, and learning disabilities. People with Williams syndrome are highly social, familiar and cute, but they do not always understand social clues. Williams syndrome is caused by a spontaneous deletion of 26 to 28 genes on chromosome 7, "an important area of ​​Williams syndrome". Deletions occur during pregnancy and are not caused by pregnancy or any aspect of the parent's lifestyle during pregnancy.

Williams syndrome - (Williams-Beuren syndrome) is a rare inherited disorder characterized by the unique "elf" facial appearance and low nose. Cardiovascular diseases such as unpredictable negative outbreaks, mental retardation, abnormal language skills, love to music, and valvular aortic valve stenosis and transient hypercalcemia. Wilson's disease - (WD) is a rare genetic disorder in which excess copper accumulates in the body. Accumulation of copper can damage the kidneys, brains and eyes. The accumulation of copper begins at birth, but the symptoms of this disease appear later in life. The most typical symptom of WD is Kayser - Fleisher ring - a rusty brown ring around the cornea. WD requires lifelong treatment and usually uses drugs to remove excess copper from the body and prevent it from accumulating again

Williams syndrome (WS), also known as Williams-Buren syndrome, is a rare neurodevelopmental disorder protein (ELN) caused by unilateral microdeletion of approximately 25 to 30 genes, including the long arm elasticity of chromosome 25 It spans about 5 megabases of gene 7, q 11.23 region. This syndrome is characterized by mild to moderate mental retardation / learning disorders, abnormal cognitive behavior, cardiovascular complications, facial deformation, connective tissue abnormalities, and childhood muscle tone reduction. Their personality traits are excessive familiarity, social collapse, excessive sympathy, and lack of attention / hyperactivity. Unique facial features consisting of a large forehead, a short nose, and a complete cheek are often referred to as "elves".