Expertise with diagnosis

Physicians at the Williams Syndrome Center at St. Louis Children’s Hospital have expertise in diagnosing Williams syndrome. In addition to a physical examination to look for the typical features of the syndrome, they will investigate your child’s blood vessels through an echocardiogram and EKG.

They also run genetic testing of your child’s DNA to determine which genes are missing. These genetic tests include the FISH technique (fluorescent in situ hybridization) and chromosomal microarray.

Coordinated team approach

While there is no “cure” for Williams syndrome, many families benefit from the team approach at the Williams Syndrome Center. We bring together multiple doctors who are experienced in Williams syndrome to work together to maximize your child’s health and development.

Our team of specialists typically includes geneticists, cardiologists, endocrinologists, nephrologists, ophthalmologists, ENTs (ear, nose and throat doctors), orthopedic surgeons, and urologists.

Specialized therapy services

Children with Williams syndrome often benefit from the involvement of specialized therapy services, including physical therapy, occupational therapy, speech therapy, feeding teams, and behavioral and psychological therapy. For your convenience, we offer coordinated care for these services.

Addressing the variety of health issues associated with Williams Syndrome

Because Williams syndrome can affect many different organs, children with the syndrome frequently have additional health concerns. Some of the health concerns include heart issues, problems with hormones, scoliosis, and hernias.

Some of these medical issues develop over time, which is why we recommend your child receive regular, ongoing care management with a team familiar with the possible range of health concerns.

Comprehensive evaluation and treatment for Williams Syndrome

Our team thoroughly evaluates your child at each visit to ensure his or her treatment is on track with any new issues that might arise, including:

  • Questions about your child’s health, personal growth, development, and socialization
  • A physical exam looking for features of the condition
  • Examination of the heart by echocardiogram and EKG
  • Ultrasound of the kidneys looking for abnormal appearance or calcium deposits
  • Tests of your child’s hormones (usually blood and urine tests)