How is Williams syndrome diagnosed?

How is Williams syndrome diagnosed?

If a person is suspected to have Williams syndrome, he or she is typically seen by a medical geneticist. Often, pediatricians or cardiologists may refer a patient to geneticists due to physical exam findings or based on cardiac evaluation.

During the genetic evaluation, the geneticist will perform a comprehensive exam to look for physical characteristics of the condition. The geneticist may also:

  • Order an EKG or echocardiogram (ultrasound of the heart) to check the heart for irregularities
  • Check your child’s blood pressure and kidneys for abnormalities
  • Recommend genetic testing through a blood test if the findings are concerning for Williams syndrome