What is williams syndrome

Genetic counsellors are health professionals qualified in both counselling and genetics. Genetic counsellors are trained provide information and support that is sensitive to your family circumstances, culture and beliefs. If Williams syndrome runs in your family, a genetic counsellor can explain what genetic testing options are available to you and other family members. You may choose to visit a genetic counsellor if you are planning a family, to find out your risk of passing the condition on to your child, or to arrange for prenatal tests.

The Genetic Support Network of Victoria GSNV is connected with a wide range of support groups throughout Victoria and Australia and can connect you with other individuals and families affected by Williams syndrome.

This page has been produced in consultation with and approved by:. During fetal development, the diaphragm or abdominal wall may fail to properly fuse, allowing the abdominal organs to protrude.

The characteristic features of Angelman syndrome are not always obvious at birth, but develop during childhood. Anthrax is a rare but potentially fatal bacterial disease that occasionally infects humans.

Aspergillus is a fungus that commonly grows on rotting vegetation. It can cause asthma symptoms. The simplest form of prevention for lyssavirus is to avoid close contact with bats. Content on this website is provided for information purposes only. Information about a therapy, service, product or treatment does not in any way endorse or support such therapy, service, product or treatment and is not intended to replace advice from your doctor or other registered health professional.

The information and materials contained on this website are not intended to constitute a comprehensive guide concerning all aspects of the therapy, product or treatment described on the website.

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Skip to main content. Genetic conditions. Home Genetic conditions. Attention deficit disorder ADD , problems with anxiety, and phobias are common among people with this disorder. Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips.

Many affected people have dental problems such as teeth that are small, widely spaced, crooked, or missing. In older children and adults, the face appears longer and more gaunt.

A form of cardiovascular disease called supravalvular aortic stenosis SVAS occurs frequently in people with Williams syndrome. Supravalvular aortic stenosis is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body the aorta.

If this condition is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and heart failure. Other problems with the heart and blood vessels, including high blood pressure hypertension , have also been reported in people with Williams syndrome.

Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue tissue that supports the body's joints and organs such as joint problems and soft, loose skin. Affected people may also have increased calcium levels in the blood hypercalcemia in infancy, developmental delays, problems with coordination, and short stature. Medical problems involving the eyes and vision, the digestive tract , and the urinary system are also possible.

Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes 26 to 28 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder.

Researchers have found that loss of the ELN gene is associated with the connective tissue abnormalities and cardiovascular disease specifically supravalvular aortic stenosis found in many people with this disease. Loss of the GTF2IRD1 gene may also contribute to the distinctive facial features often associated with this condition. 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.

Talk to your doctor about whether this is right for you. Ask what your chances are of having a child with the condition. A new study shows abnormal immune proteins in the spinal fluid of people with chronic fatigue syndrome. One woman went years misdiagnosed until she was finally diagnosed with chronic fatigue….

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According to an observational study in , couples, there was a 35 percent increase in the chance of birth defects in newborns if the father…. Krabbe disease is a rare and life threatening disorder of the nervous system. Sturge-Weber syndrome is a rare neurological disorder present at birth. Accepting the news emotionally, dealing with immediate medical concerns, and preparing for ongoing development issues can make every day go by in a blur for days, weeks or even months.

Often, just knowing where to start can be helpful. Nearly every individual with Williams syndrome will benefit from therapeutic intervention to help overcome developmental delays, joint problems, fine motor issues and other characteristics common to Williams syndrome. Your physician can help you determine the need for therapy or provide a referral to have your child evaluated by a therapeutic service provider.

It is important to start therapies as soon as possible to gain the most benefit. What is Williams syndrome? Sooner or later we all hear this question. We wonder how much we should say, which characteristics we should talk about, or how we can properly explain how it happened.