How is williams syndrome caused

Everyone has questions following a diagnosis of Williams syndrome for their loved one. We are here to help. The WSA community consists of thousands of families who have traveled the journey that you are now beginning. We've tried to anticipate many of your immediate general questions here.

If you have additional, more specific questions, please feel free to contact our national office. Skip to main content. General Information. Learn more. Diagnosing Williams Syndrome. New Diagnosis: First Steps. There is currently no cure. Treatment for Williams syndrome aims to support the person and manage their symptoms. The outlook depends on the degree of severity. In some cases, a person with Williams syndrome can complete school, work and look after themselves.

However, others may need lifelong care. Most people with Williams syndrome share a wide range of physical, social and cognitive thinking and acquiring knowledge traits. These characteristic features may occur to a greater or lesser degree. Some common physical traits of Williams syndrome include:. Williams syndrome is caused by a partial deletion of up to 28 genes on chromosome 7.

This means that a section of genetic material on chromosome 7 is missing. It is believed that some of these genes are involved in the production of elastin. Elastin is a protein that provides elasticity and suppleness to various structures, including skin and blood vessel walls. This lack of elastin is most likely the cause of some of the distinctive physical features of Williams syndrome.

Most cases of Williams syndrome are caused by random events that occur during the formation of the egg or the sperm in an unaffected individual. Williams syndrome can also, rarely, be inherited from a parent who has the condition.

In the rare event the condition is inherited, it is inherited in an autosomal dominant manner. This means that just one copy of the altered chromosome 7 is enough to cause the condition. Due to this inheritance pattern, an individual with Williams syndrome has a 50 per cent chance of passing the condition onto any future children.

Williams syndrome often goes undiagnosed. This means many people fail to get the support and treatment they need until later in life. Diagnostic tests include:. There is currently no cure for Williams syndrome. Treatment aims to support the person and manage associated symptoms. There may be many physical, developmental, intellectual and social problems present in Williams syndrome, which may require a team of health professionals. Treatment options can include:. If you or a family member have been diagnosed with a Williams syndrome, or if it runs in your family, it can be helpful to speak to a genetic counsellor.

Medical conditions can affect the lifespan of those with Williams syndrome. Calcium deposits can cause kidney problems, and narrowed blood vessels can cause heart failure. The majority of affected people have some degree of intellectual disability. Learning self-help skills and getting early intervention in school can help encourage independence.

Some people with Williams syndrome will need to live with a caregiver or in a supervised home. There is no known way to prevent Williams syndrome.

People with a family history of the condition can choose to undergo genetic counseling before conceiving a child.

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