PREVIOUS QUESTION:

 

NEXT QUESTION:

 

How is Williams syndrome diagnosed?

ANSWER

Children with this genetic disorder are usually diagnosed before age 4. You doctor will check your child and ask about your family medical history. They also will look for facial features like an upturned nose, wide forehead, and small teeth. An electrocardiogram (EKG) or ultrasound can check for heart problems.

A bladder and kidney ultrasound can check for urinary tract conditions.

Your child might get a blood test called FISH, or fluorescence in situ hybridization, to see if any genes are missing. Most people with Williams syndrome will not have the ELN gene.

Because these issues can happen over time, doctors will want to see your child regularly.

From: What is Williams Syndrome? WebMD Medical Reference

SOURCES:

Cleveland Clinic: "Williams Syndrome."

GeneReviews: "Williams Syndrome."

National Organization for Rare Disorders: "Williams Syndrome."

Williams Syndrome Association: "Frequently Asked Questions About Williams Syndrome and the WSA," "What Is Williams Syndrome?"

U.S. National Library of Medicine: "Williams syndrome."

Reviewed by Carol DerSarkissian on August 9, 2018

SOURCES:

Cleveland Clinic: "Williams Syndrome."

GeneReviews: "Williams Syndrome."

National Organization for Rare Disorders: "Williams Syndrome."

Williams Syndrome Association: "Frequently Asked Questions About Williams Syndrome and the WSA," "What Is Williams Syndrome?"

U.S. National Library of Medicine: "Williams syndrome."

Reviewed by Carol DerSarkissian on August 9, 2018

NEXT QUESTION:

Which specialist can be involved in taking care of a child with Williams syndrome?

WAS THIS ANSWER HELPFUL

THIS TOOL DOES NOT PROVIDE MEDICAL ADVICE. It is intended for general informational purposes only and does not address individual circumstances. It is not a substitute for professional medical advice, diagnosis or treatment and should not be relied on to make decisions about your health. Never ignore professional medical advice in seeking treatment because of something you have read on the WebMD Site. If you think you may have a medical emergency, immediately call your doctor or dial 911.

    This tool does not provide medical advice. See additional information.