Williams syndrome

Williams syndrome is a rare genetic disorder. People with Williams syndrome may have mild to moderate delays in their cognitive development (ability to think and reason) or learning difficulties. They also may have a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety.

The most significant medical problem that occurs with Williams syndrome is cardiovascular (heart) disease caused by narrowed arteries. Infants with Williams syndrome may also have elevated levels of blood calcium.

How can I or my loved one help improve care for people with Williams syndrome?

Williams syndrome is considered a rare disease, which often means there is not much information known about it. This is usually the case because doctors and researchers do not see many people with Williams syndrome, which makes it hard to learn from them through observations or large studies.

Consider participating in a clinical trial so clinicians and scientists can learn more about Williams syndrome and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Williams syndrome at Clinicaltrials.gov.

Where can I find more information about Williams syndrome?

Information may be available from the following resource:

Genetic and Rare Diseases (GARD) Information Center

MedlinePlus

MedlinePlus Genetics

National Organization for Rare Disorders (NORD)
Phone: 203-744-0100 or 800-999-6673; 844-259-7178 Spanish

Williams Syndrome Association
Phone: 248-244-2229 or 800-806-1871

Content source: https://www.ninds.nih.gov/health-information/disorders/williams-syndrome Accessed June 29, 2023.

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