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Williams syndrome

Contents of this page:

Illustrations

Low nasal bridge
Low nasal bridge

Alternative Names    Return to top

Williams-Beuren syndrome

Definition    Return to top

Williams syndrome is a rare genetic disorder that can lead to problems with development.

Causes    Return to top

Williams syndrome is a rare condition caused by missing genes. Parents may not have any family history of the condition. However, a person with Williams syndrome has a 50% chance of passing the disorder on to each of his or her children. The cause usually occurs randomly.

Williams syndrome occurs in about 1 in 8,000 births.

One of the 25 missing genes is the gene that produces elastin, a protein that allows blood vessels and other tissues in the body to stretch. It is likely that having only one copy of this gene results in the narrowing of blood vessels seen in this condition.

Symptoms    Return to top

Exams and Tests    Return to top

Signs include:

Tests for Williams syndrome:

Treatment    Return to top

There is no cure for Williams syndrome. Avoid taking extra calcium and vitamin D. Treat high levels of blood calcium if present. Blood vessel narrowing can be a significant health problem and is treated based on how severe it is.

Physical therapy is helpful to patients with joint stiffness. Developmental and speech therapy can also help these children; for example, verbal strengths can help make up for other weaknesses. Other treatments are based on a patient's symptoms.

It can help to have treatment coordinated by a geneticist who is experienced with Williams syndrome.

Support Groups    Return to top

Williams Syndrome Foundation -- www.wsf.org

Williams Syndrome Association -- www.williams-syndrome.org

Outlook (Prognosis)    Return to top

About 75% of those with Williams syndrome have some mental retardation.

Most patients will not live as long as normal, due to complications.

Most patients require full-time caregivers and often live in supervised group homes.

Possible Complications    Return to top

When to Contact a Medical Professional    Return to top

Many of the symptoms and signs of Williams syndrome may not be obvious at birth. Call your health care provider if your child has features similar to those of Williams syndrome. Seek genetic counseling if you have a family history of Williams syndrome.

Prevention    Return to top

There is no known way to prevent the genetic problem that causes Williams syndrome. Prenatal testing is available for couples with a family history of Williams syndrome who wish to conceive.

Update Date: 2/5/2008

Updated by: Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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