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What is Williams syndrome?

Williams syndrome is a rare (affecting 1 in 10,000 people) developmental disorder that can affect many parts of the body, including the heart and blood vessels. Children with Williams syndrome have mild to moderate intellectual disability, distinctive facial features, and an outgoing personality.

Children with Williams syndrome may have the following heart conditions:

Supravalvular aortic stenosis

  • a narrowing of the aorta, the large blood vessel that carries blood from the heart to the body
  • compromised blood flow into the coronary arteries, which puts these children at higher risk for sudden death
  • narrowing or underdevelopment of other parts of the aorta, including the aortic arch, which may add additional stress to the heart or compromise blood flow to the organs and tissues

Pulmonary artery stenosis

  • a blockage of blood flow from the right heart-pumping chamber (ventricle) to the lungs

What are the symptoms of Williams syndrome?

Some children with Williams syndrome have a distinct facial appearance with slightly more narrow features and a broader smile.

What are the causes of Williams syndrome?

Williams syndrome is a rare genetic disorder that often occurs randomly. However, there is a 50 percent chance that a person with Williams syndrome will pass the condition on to each of his or her children.

How we care for Williams syndrome

At the Boston Children’s Hospital Williams Syndrome Clinic, we have a specialized team that focuses on the diagnosis and treatment of children with Williams syndrome. This team is comprised of clinicians from a range of specialties, including cardiology, cardiac surgery, genetics, neuropsychology, behavioral psychology, psychiatry, and occupational, speech, and physical therapy. Through many years of experience working with children who have Williams syndrome, we have developed safe solutions for the difficult challenges they face.

We have the experience and the readiness to care for the worst of the worst, the most complex of the complex. Our team is personally invested in finding solutions for children with Williams syndrome who have not found answers elsewhere.

Our areas of innovation for Williams syndrome

We are utilizing our vast resources within Boston Children’s Hospital and collaborating with the Williams Syndrome Association (WSA) to facilitate future studies of Williams syndrome and enhance general awareness of the condition. Through our efforts, we hope to find new ways to improve the cardiovascular health and well-being in people with Williams syndrome of all ages.

Key focus areas include:

  • advanced imaging strategies to provide early and accurate detection of the cardiovascular issues of Williams syndrome
  • advanced interventional cardiology and surgical strategies to treat aortic, coronary, and pulmonary vascular abnormalities unique to Williams syndrome.
  • a simulation algorithm to enhance the safety of general anesthesia in children with Williams syndrome
  • using intravascular ultrasound imaging to understand the arterial wall and its response to catheter intervention
  • examining the current state of healthcare delivery for patients with Williams syndrome in Massachusetts and using this information to develop optimal models of care, including transition to adulthood
  • creating a Williams syndrome registry to collect medical, surgical, diagnostic, and neurodevelopmental data and a DNA repository for patients with Williams syndrome

Williams Syndrome | Diagnosis & Treatment

How is Williams syndrome diagnosed?

In some cases, Williams syndrome may be diagnosed in infants who have heart problems, failure to thrive, slow growth or feeding problems.

In older children, Williams syndrome may be diagnosed after noticeable developmental delays involving speech and motor difficulties. Some children with Williams syndrome also have a distinct facial appearance. These attributes, when combined with specific manners or behaviors, are what usually prompt tests for Williams syndrome. 

Genetic testing is often used to confirm a diagnosis of Williams syndrome.

What are the treatment options for Williams syndrome?

There is no specific cure for Williams syndrome, so care is focused on treating specific symptoms or cardiovascular problems.

Children with Williams syndrome who have a heart defect may need heart catheterization or surgery to repair the problem, including:

  • ballooning or stenting of blood vessels 
  • patching of the aorta, coronary arteries or pulmonary arteries 
  • a hybrid approach that involves a collaboration between the interventional cardiologist and surgeon to place stents in difficult-to-reach blood vessels

Some heart problems can develop or worsen over time, so regular visits with an experienced team are recommended.

What is the life expectancy for Williams syndrome?

The life expectancy for children with Williams syndrome is increasingly positive. As we better understand the many elements impacting health and quality of life for those with Williams Syndrome, all are better equipped to support and successfully manage challenges as they arise. Significant progress has been made since the condition was initially recognized and, in recent decades, accurately diagnosed.

Williams Syndrome | Programs & Services