Williams Syndrome: A Research Perspective

Williams Syndrome: A Research Perspective

What is Williams Syndrome?

Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning difficulties, unique personality traits, facial features, and heart and blood vessel (cardiovascular) problems.

People with Williams syndrome usually have difficulty with visuospatial tasks such as drawing and putting together puzzles, but usually do well on tasks that involve speaking, music, and study reviews. Affected people have friendly and committed personalities and tend to be very attracted to other people. Attention Deficit Disorder (ADD), anxiety problems, and phobias are common in people with this disorder.

Williams Syndrome: A Research Perspective

Young children with Williams syndrome have characteristic facial features, including a broad forehead, puffiness around the eyes, a flat nose bridge, full cheeks, and a small chin. Many sufferers have problems with their teeth, eg. B. teeth are small, widely spaced, crooked, or missing. Older children and adults tend to have longer faces with wide mouths and full lips.

A form of cardiovascular disease called supra-valvular aortic stenosis (SVAS) is common in people with Williams syndrome. Supraclavicular aortic stenosis is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (aorta). If left untreated, narrowing of the aorta can lead to shortness of breath, chest pain, and heart failure. Other problems with the heart and blood vessels, including high blood pressure (hypertension) and stiffness in the blood vessels, have also been reported in people with Williams syndrome. People with Williams syndrome have an increased risk of complications from the use of anesthetics.

Additional signs and symptoms of Williams syndrome include abnormalities in the connective tissue (tissue that supports joints and organs), such as joint problems and tender, loose skin. Affected individuals may also have elevated blood calcium levels (hypercalcemia) in early childhood, developmental delays, coordination problems, and short stature. Medical problems, including eyes and vision, digestive tract, and urinary system, are also possible.

Major positive research has been conducted based on the topic, of Williams Syndrome: A Research Perspective.

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Popularity

Williams syndrome affects about 1 in 7,500 to 10,000 people.

Causes

Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region contains from 25 to 27 genes, and researchers believe that the loss of some of these genes contributes to the characteristics of the disease.

ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are usually deleted in people with Williams syndrome. Researchers have found that loss of the ELN gene is associated with connective tissue disorders and cardiovascular disease (especially supra-valvular aortic stenosis), which occurs in many people with this disease. Studies suggest that deleting GTF2I, GTF2IRD1, LIMK1, and possibly other genes may help explain the characteristic difficulties with visuospatial tasks, unique behavioral traits, and other cognitive impairments seen in people with Williams syndrome. Loss of the GTF2IRD1 gene may also contribute to the facial features commonly associated with this condition.

Williams Syndrome: A Research Perspective

Researchers believe that the presence or absence of the NCF1 gene on chromosome 7 affects the risk of developing high blood pressure in people with Williams syndrome. When the NCF1 gene is on the part of the chromosome that has been deleted, people are less likely to develop high blood pressure. Therefore, loss of this gene appears to be a protective factor. People with Williams syndrome whose NCF1 gene has not been deleted have a higher risk of developing high blood pressure.

The relationship between another gene in the deleted region of chromosome 7 and the signs and symptoms of Williams syndrome is under investigation or is unknown.

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Inheritance

Most cases of Williams syndrome are not inherited. Chromosomal changes usually occur as random events during the formation of reproductive cells (eggs or sperm) in the affected person’s parents. These cases occur in people with no family history of the disease. However, the risk of giving birth to a child with Williams syndrome increases when the unaffected parent has a chromosomal abnormality called chromosome 7 inversion, which is linked to Williams syndrome.

Williams syndrome is considered an autosomal dominant disorder because one altered copy of chromosome 7 in each cell is sufficient to cause the disorder. In a small percentage of cases, people with Williams syndrome inherit a chromosomal deletion from a parent with the disease.

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