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Williams syndrome

Williams-Beuren syndrome; WBS; Beuren syndrome; 7q11.23 deletion syndrome; Elfin facies syndrome

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

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Low nasal bridge
Chromosomes and DNA

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Causes

Williams syndrome is caused by not having a copy of 25 to 27 genes on chromosome number 7.

One of the missing genes is the gene that produces elastin. This is 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. Treatment is based on how severe it is.

Physical therapy is helpful for 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)

Most people with Williams syndrome:

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.

Related Information

Intellectual disability

References

Morris CA. Williams syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews. University of Washington, Seattle, WA. www.ncbi.nlm.nih.gov/books/NBK1249. Updated March 23, 2017. Accessed November 5, 2019.

NLM Genetics Home Reference website. Williams syndrome. ghr.nlm.nih.gov/condition/williams-syndrome. Updated December 2014. Accessed November 5, 2019.

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Review Date: 10/3/2019  

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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