Williams Syndrome

How it may affect you or people you know

What is Williams Syndrome?

Williams Syndrome is a chromosomal abnormality that usually delays regular development of the brain. It was discovered in 1961 by Dr. C.A. Morris. He concluded that when there is a mutation in a certain chromosome, it affects the gene that controls the production of proteins that allow tissues in the body to stretch. This can lead to some problems throughout a patient's life, some of which are more serious than others.

How does someone get Williams Syndrome?

When there is a deletion mutation on chromosome 7 during fermentation, Williams Syndrome is given to the baby. However, it is very rare and occurs only in every 1 out of 10,000 babies. Williams Syndrome is equally possible in all gender and ethnicity groups. Usually it is not inherited from a parent, like other genetic disorders.

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How do I know when someone has Williams Syndrome?

The symptoms of Williams Syndrome are very specific, and easy to identify when checked. Babies will have specific facial features, like a broad forehead, puffy eyes, full cheeks, a pointed nose, and sometimes teeth problems. Patients with Williams Syndrome are more often than not very outgoing, and not afraid to talk to strangers. Although Williams Syndrome can cause slow mental development, those with it will have very strong music and language skills once taught.

If you are not sure if your child or someone you know has it, you can also get them tested for Williams Syndrome. Using a method called FISH (fluorescent in situ hybridization), DNA sequences are labeled and held under a UV light. If the genes light up, the patient does not have Williams Syndrome.

Is Williams Syndrome harmful?

Williams Syndrome can be harmful, but it all depends on what symptoms each person gets. Those affected badly could have a multitude of medical problems, but just as easily they could have only one. Some of the more serious possibilities include heart trouble, blood vessel problems, slow weight gain in early months of life, and limited mobility of the joints. It is not often that life expectancy is shortened by Williams Syndrome.

Are there any treatment options for Williams Syndrome?

There are no ways to treat Williams Syndrome, and also no way to prevent it. This is because the mutation that causes it is completely random, and irreversible. Although this is so, it is important to have the patient seen by a doctor regularly, so any symptoms of Williams Syndrome can be identified and kept in check.

Are there any support groups to help with Williams Syndrome?

Yes, there are many support groups that allow you to gather with others facing the same problems. The Williams Syndrome Association is a great one to get to know other people and be around those who know what you are going through. The National Organization for Rare Disorders is another great way to raise awareness about Williams Syndrome and get information about anything more you may want to know.
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