Williams Syndrome

Williams syndrome is a rare disorder. It is present at birth (congenital). It causes physical and developmental problems. Patients with this syndrome may show competence in some areas. These include language, music, and interpersonal relations. But their IQs are usually below average. And they are considered to be moderately to mildly retarded.

CAUSES

Scientists have learned that most patients with this syndrome lack genetic material on chromosome 7. This probably causes the physical and developmental problems.

SYMPTOMS

Symptoms vary. They may include:

  • An impulsive and extremely social (outgoing) personality.

  • Limited spatial skills and motor control.

  • Intellectual disability. Examples include:

  • Developmental delay.

  • Learning disabilities.

  • Mental retardation.

  • Attention deficit disorder (ADD).

Other features may include:

  • "Elfin-like" features of the face.

  • Heart and blood vessel problems.

  • High blood calcium levels.This is hypercalcemia.

  • Low birth weight.

  • Slow weight gain.

  • Feeding problems.

  • Irritability during infancy.

  • Dental and kidney abnormalities.

  • Sensitive hearing.This is hyperacusis.

  • Musculoskeletal problems.

TREATMENT

There is no cure for this syndrome. Nor is there a standard course of treatment. Treatment is symptomatic and supportive. Patients with this syndrome need regular monitoring. This is to check for potential medical problems. This should be done by a caregiver who is familiar with the disorder. Patients may also need other specialized services.

PROGNOSIS

The outcome for patients with this syndrome varies. Some may be able to:

  • Master self-help skills.

  • Complete academic or vocational school.

  • Live in supervised homes or on their own.

But others may not progress to this level.