Williams Syndrome
[2023-07-17 02:35:02]
Williams syndrome, also known as Williams-Belem syndrome, is an inherited disorder caused by deletion of chromosome 7. It was named after two people who discovered and studied it in 1961. Williams in the USA and Buren in Germany in the western United States. This sick person can be identified by its unique facial structure, cardiovascular abnormalities, hypercalcemia, even brighter and extroverted personality. The exact number of affected people is unknown, but experts estimate that the probability of becoming Williams syndrome is 7,500 to 1 / 20,000, and it is the same for both nationalities and men of all nationalities.
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".
Most patients with Williams syndrome have some mental retardation. Infants with Williams syndrome often develop hypoplasia. First step, conversation, toilet training etc are usually done under normal circumstances. Distraction is often a problem, but it gets better as you get older. Senior children and adults show "pros and cons". Speech, long-term memory, and social skills are often very strong. People with Williams syndrome are usually very afraid of strangers, and they have unique powers.