Williams Syndrome

Overview

Williams syndrome, also called Williams-Beuren syndrome, is a genetic condition present from birth. It is caused by the loss of a small piece of genetic material on chromosome 7, which removes several genes. This affects many parts of the body and development, leading to a recognizable pattern of features that can include heart and blood vessel differences, developmental delays, distinctive facial characteristics, and a notably friendly, sociable personality.

The condition affects each person differently, ranging from mild to more significant. While there is no cure, many of the associated health and developmental issues can be managed with regular monitoring, early support, and a coordinated care team. Many people with Williams syndrome lead meaningful, engaged lives with the right support.

People with Williams syndrome often have a striking combination of strengths and challenges. They are frequently very verbal, warm, and drawn to other people, while at the same time finding tasks involving spatial skills or numbers more difficult. Understanding this individual profile helps families, teachers, and clinicians provide support that builds on a person's strengths while addressing their specific needs.

Features and Symptoms

Williams syndrome involves a combination of physical, developmental, and behavioral features, which vary from person to person.

• Heart and blood vessel problems, especially narrowing of blood vessels such as the artery leaving the heart
• Developmental delays and learning difficulties, often with relative strengths in language and social interaction
• Distinctive facial features, such as a broad forehead, full cheeks, and a small upturned nose
• A very social, friendly, and talkative personality, sometimes with anxiety
• Feeding difficulties and low birth weight in infancy
• Higher calcium levels in some infants
• Sensitivity to sound and dental or joint differences

Causes

Williams syndrome is caused by the deletion of about two dozen genes from a specific region of chromosome 7. The loss of these genes, including one important for the protein elastin that gives blood vessels and other tissues their flexibility, accounts for many of the features.

• The deletion usually occurs as a new, random event around the time of conception
• It is generally not inherited from a parent, and most families have no prior history
• A person with Williams syndrome can pass the condition on, with a 50 percent chance for each child

Risk Factors

• The deletion typically happens by chance, so it is not linked to anything the parents did
• There is usually no family history
• A parent who has Williams syndrome has a 50 percent chance of passing it to each child

Because most cases arise from a random event, there are no known lifestyle factors that cause it.

Diagnosis

Diagnosis is suspected from the combination of features and confirmed with genetic testing.

• Clinical assessment: Recognizing the pattern of facial, heart, and developmental features.
• Genetic testing: A specific test that detects the missing piece of chromosome 7 confirms the diagnosis.
• Heart evaluation: An echocardiogram and other tests to check the heart and blood vessels.
• Other tests: Checking calcium levels, hearing, vision, and development.

Treatment and Management

There is no cure, so care focuses on monitoring and managing the individual features, coordinated across specialists.

• Heart care: Regular monitoring by a cardiologist, with treatment or surgery if blood vessels are significantly narrowed.
• Developmental support: Early intervention, speech, occupational, and physical therapy, and educational support.
• Behavioral and mental health support: Help with anxiety and social functioning.
• Routine monitoring: Checking calcium, blood pressure, hearing, vision, and growth over time.
• Dietary advice: Managing calcium intake when levels are high, as guided by the care team.

Ongoing, lifelong follow-up helps catch and address health issues early.

Family Planning and Support

• Williams syndrome cannot be prevented, as it usually arises by chance
• Genetic counseling can help families understand the condition and recurrence risk
• Early intervention services support development from a young age
• Connecting with support organizations and other families can be valuable
• Regular medical follow-up helps manage health needs over a lifetime

When to See a Doctor

If Williams syndrome is suspected or diagnosed, a coordinated care team guides ongoing monitoring. Seek prompt medical attention if a person with Williams syndrome has:

• Chest pain, fainting, or severe shortness of breath, which may relate to heart or blood vessel problems
• Signs of high calcium, such as persistent vomiting, constipation, or unusual tiredness
• A significant change in behavior, feeding, or development
• Any concern raised at routine check-ups that needs follow-up

Related Topics

Frequently Asked Questions

References

1. National Institutes of Health (NIH), MedlinePlus. Williams syndrome.
2. National Human Genome Research Institute. About Williams syndrome.
3. Williams Syndrome Association. About Williams syndrome.
4. Genetic and Rare Diseases Information Center (GARD).