Williams Syndrome

What is Williams Syndrome

Williams syndrome is a rare developmental disorder that is present at birth (congenital). Williams syndrome may cause developmental and learning disabilities as well as physical problems, including heart, kidney, and blood vessel problems.

Williams syndrome affects children differently. However, most children with Williams syndrome can live full and active lives with the right medical care and support.

What are the causes?

Williams syndrome is caused by the loss of genetic material from a specific chromosome. The cause of this loss is not known.

What are the signs or symptoms?

There are many possible signs and symptoms, such as:

  • Facial appearance that includes:
    • A broad forehead.
    • Small, upturned nose.
    • Long upper lip.
    • Wide mouth.
    • Small chin.
  • A personality that includes:
    • Extreme friendliness.
    • Lack of shyness.
  • Trouble feeding and gaining weight in early childhood.
  • Dental issues, such as small teeth that are spaced widely.
  • Hearing problems, such as extreme sensitivity to noise or hearing loss later in life.
  • Delayed walking and toilet training.
  • Trouble with drawing and handwriting.

How is this diagnosed?

Williams syndrome may be diagnosed by a blood test to check whether genetic material at the specific chromosome is missing. Other tests may include:

  • An imaging study of the heart and blood vessels using sound waves (echocardiography).
  • An imaging study of the kidneys using sound waves (renal ultrasonography).
  • A hearing test.
  • Developmental testing.

How is this treated?

There are many possible treatments for Williams syndrome. Your child’s treatment will depend on his or her current symptoms and any others that develop over time. Treatment almost always requires a team of health care providers and support from other caregivers. Your child’s treatment plan may include:

  • A heart specialist (cardiologist).
    • Your child may need to take medicine to control high blood pressure.
    • Some children may need surgery to correct heart and blood vessel problems.
  • A digestive system specialist (gastroenterologist).
  • Diet restrictions and medicine to manage calcium levels.
  • Braces and other kinds of dental care.
  • Physical therapy for bone or joint problems.
  • Mental health providers to help with any behavioral or learning problems.

Follow these instructions at home:

  • Learn as much as you can about your child’s condition.
  • Give medicines only as directed by your child’s health care provider.
  • Work closely with your child’s team of health care providers.
  • It is very important to make sure you have a good support system.

Contact a health care provider if:

  • Your child has new symptoms.
  • You do not have enough support at home.