Williams Syndrome

What is Williams Syndrome?

Williams syndrome is a rare genetic disorder occurring 1 in approximately 25,000 live births. Dr. J.C.P. Williams first defined the syndrome when he noticed that many children entering his hospital with cardiovascular problems shared other traits in common, particularly facial features and an unusually friendly and social demeanor.

Physical traits include:

  • Hypercalcemia (high blood calcium levels, possibly producing colic-like symptoms)
  • Failure to thrive: slow or stunted growth
  • Delayed development
  • Widely spaced teeth
  • Long philtrum

Neurologic and behavioral traits:

  • Impaired visuospatial abilities with preserved facial processing
  • Impaired problem solving
  • Preserved language abilities
  • Love of music
  • Anxiety Attention deficit
  • Hyperacusis (hypersensitivity to loud noises)
  • Friendly and outgoing

What Causes Williams Syndrome?

Williams syndrome is caused by a small genetic deletion on the long arm of chromosome 7, encompassing approximately 25 genes. Because of this deletion, people with Williams syndrome produce smaller amounts of several important proteins. One of these proteins, elastin, is now known to be responsible for several of the cardiovascular and physical characteristics associated with Williams syndrome. Doctors can now perform tests for the gene that encodes elastin in order to confirm the diagnosis of Williams syndrome.

Ongoing research is determining the identity of other genes that are deleted in Williams syndrome and the structure and function of the proteins for which they encode. Several other genes have recently been described that may further explain how the symptoms of Williams syndrome arise.

Our Studies

The Williams Syndrome Program Project—Bridging Cognition and Gene—links together cognitive functions, their underlying neurobiological bases, and their molecular genetic underpinnings, using Williams Syndrome (WMS) as a model. At CIBSR, we use high-resolution structural and functional MRI neuroimaging to study neural systems in WMS.

Our recent work has focused on collecting behavioral and neuroimaging data from individuals with WMS throughout development and is designed to produce results that will advance clinical interventions specific to WMS. Studies from our laboratory have elucidated the relationship between brain structure and function and behavioral abnormities in WMS. In particular, we have focused our structural and functional MRI on assessing the neural systems underlying visual and social-cognitive processing as key elements to understanding the neural basis of the unusual behavioral features associated with this disorder.

For publications on this study click here.