Williams Syndrome

Our approach to Williams syndrome

Stanford Medicine Children’s Health is known as a national and international leader in treating Williams syndrome, seeing children from around the world and treating some of the most complex cases. Approximately one-third of children seen by us need heart surgery, often by the time they turn 5 years old. In these cases, we collaborate with our nationally renowned pediatric cardiothoracic surgeons at the Betty Irene Moore Children’s Heart Center, to provide highly complex, expert heart surgery for your child.

One of the most common heart problems in children with Williams syndrome can be narrow pulmonary arteries, the arteries that carry blood to the lungs. Our Pulmonary Artery Reconstruction (PAR) program is the top program in the world for pulmonary artery reconstruction, famous for a novel, highly complex surgical technique called unifocalization, developed and pioneered by our Heart Center director, Frank L. Hanley, MD.

About Williams syndrome

Williams syndrome is a genetic condition that affects many parts of the body. The condition is caused by missing genes from chromosome No. 7 that are responsible for creating elastin, a connective tissue that gives structure, support, and resilience to tissues found in your child’s lungs, skin, tendons, ligaments, and arteries. Williams syndrome can be diagnosed shortly after birth, yet sometimes it is mild and goes undetected until later in childhood when a heart murmur is noticed by a doctor.

Children with Williams syndrome tend to have certain personality traits. They are gregarious, love to be social, and are often very friendly. Sometimes they don’t interpret social cues well. They can also be slow to develop and struggle with learning challenges, including attention deficit disorder. Williams syndrome creates distinct facial features, including a wide mouth, upturned nose, full lips, small chin, and puffy eyes. These features become more obvious as a child grows. Babies can be born with serious cardiovascular problems, and heart and artery problems are common.

Signs of Williams syndrome

  • Heart and artery problems: Blood vessels are often significantly narrowed, which causes high blood pressure and places strain on the heart. The aorta can become narrow in a condition known as SVAS, or supravalvar aortic stenosis, which can require heart surgery. When the pulmonary arteries are narrowed, a child may need pulmonary artery reconstruction through Stanford Medicine Children’s Health’s world-renowned PAR program.
  • Failure to thrive as an infant: Babies born with Williams syndrome tend to grow slowly and have a lower birth weight. Many experience feeding problems due to poor muscle tone in their mouth and throat. They may have extended colic (irritability and crying).
  • Poor muscle tone and lax joints.
  • Chance of kidney problems.
  • Teeth that are small and widely spaced, which may require orthodontics.
  • Hernias.

Learn more by visiting the Williams Syndrome Association