Williams syndrome

Definition

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

Causes

Williams syndrome is caused by not having a copy of several genes. It may be passed down in families. Parents may not have any family history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder on to each of their children. It often occurs randomly.

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 missing a copy of this gene results in the narrowing of blood vessels, stretchy skin, and flexible joints seen in this condition.

Symptoms

Symptoms of Williams syndrome are:

The face and mouth of someone with Williams syndrome may show:

Exams and Tests

Signs include:

Tests for Williams syndrome include:

Treatment

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

Physical therapy is helpful to people with joint stiffness. Developmental and speech therapy can also help. For example, having strong verbal skills can help make up for other weaknesses. Other treatments are based on the person's symptoms.

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

Support Groups

A support group can be helpful for emotional support and for giving and receiving practical advice. The following organization provides additional information about Williams syndrome:

Williams Syndrome Association -- williams-syndrome.org

Outlook (Prognosis)

About 75% of people with Williams syndrome have some intellectual disability.

Most people will not live as long as normal due to the various medical issues and other possible complications.

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

Possible Complications

Complications may include:

When to Contact a Medical Professional

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

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.


Review Date: 10/26/2017
Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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