WS

WS or Williams Syndrome is a rare neurodevelopmental disorder characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge, an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcaemia.

Signs and Symptoms

Williams Syndrome is characterized by several medical problems, including cardiovascular disease, developmental delays, and learning disabilities. These often occur side by side with striking verbal abilities, highly social personalities and an affinity for music.

Cardiovascular Issues

Cardiovascular disease is common in individuals with Williams Syndrome. They may have supravalvular aortic stenosis (SVAS), a narrowing of the aorta, or pulmonary stenosis, a narrowing of the pulmonary artery. Both conditions can lead to shortness of breath, chest pain, and heart failure.

Developmental and Learning Disabilities

Children with Williams Syndrome often experience developmental delays. They may not reach developmental milestones, such as walking or talking, at the same time as their peers. They also typically have learning disabilities and struggle with tasks that require spatial skills, such as drawing and writing.

Social and Personality Characteristics

Individuals with Williams Syndrome are often very social and outgoing. They have a distinctive, "elfin" facial appearance, with a low nasal bridge, full cheeks, and a wide mouth. They also tend to have an unusually cheerful demeanor and an ease with strangers.

Causes

Williams Syndrome is caused by a deletion of about 26 genes from the long arm of chromosome 7. This deletion occurs during the formation of the egg or sperm, and is not inherited from either parent. The exact reason for this deletion is unknown.

Diagnosis

The diagnosis of Williams Syndrome is typically made through a combination of physical examination, medical history, and genetic testing. The physical examination may reveal characteristic facial features and heart problems. Genetic testing can confirm the diagnosis by identifying the deletion of genes on chromosome 7.

Treatment

There is no cure for Williams Syndrome. Treatment is supportive and based on the individual's symptoms. This may include physical therapy for motor skills delays, special education services for learning disabilities, and surgery for cardiovascular problems.

See Also

• Genetic disorders
• Cardiovascular disease
• Developmental delay
• Learning disabilities

References

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