What is Williams syndrome?
Williams syndrome (WS) is rare—but rare is real.
Williams syndrome (WS) is a rare genetic condition caused by the deletion of approximately 26–28 genes on chromosome 7. Among those missing genes is the elastin (ELN) gene, which plays an important role in the development and function of blood vessels and connective tissue throughout the body.
Affecting approximately 1 in 10,000 people worldwide, Williams syndrome can present a complex range of medical and developmental challenges. Cardiovascular abnormalities are one of the most significant concerns, including narrowing of major blood vessels. Individuals with WS may also experience developmental and intellectual disabilities, anxiety, hearing loss, musculoskeletal conditions, and other health challenges that can require lifelong monitoring and specialized care.
Yet despite the very real medical challenges associated with Williams syndrome, there is currently no approved medication or therapeutic treatment specifically for WS.
That reality is at the heart of why research matters.
Every study brings greater understanding. Every discovery has the potential to bring us closer to better care, better treatments, and new possibilities for individuals with Williams syndrome.
That is why continued research, medical awareness, and support are so critical to improving and protecting the lives of individuals living with WS.
Williams syndrome at a glance
1 in 10,000 - WorldWide
Approximately 1 in 10,000 people worldwide are affected by Williams syndrome.
30,000 - United States
An estimated 30,000 people in the United States are living with Williams syndrome.
26-28 Genes - The Cause
Williams syndrome is caused by the deletion of approximately 26-28 genes on chromosome 7, in the 7q11-23 region.
80% - Cardiovascular
Approximately 80% of individuals with Williams syndrome have cardiovascular abnormalities,
most commonly narrowing of the aorta and other blood vessels.
Developmental
Learning disabilities and developmental delays are common, although abilities and challenges vary greatly from person to person.
Behavioral & Emotional
Anxiety and behavioral challenges can impact everyday life.
Hearing
Hearing loss and increased sensitivity to sound are more common among individuals with Williams syndrome.
Musculoskeletal
Williams syndrome can affect bones, joints, muscles, and connective tissue.
Beyond the Numbers
Williams Syndrome affects each individual differently - no two people are exactly alike. There is currently no approved medication or therapeutic treatment specifically for Williams Syndrome, making continued research critical to improving care, treatment and quality of life.