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What Is Williams Syndrome?

Williams syndrome (WS), also called Williams-Beuren syndrome (WBS), is a rare genetic disorder that causes a variety of symptoms throughout the body. If your child's been diagnosed with this condition, they may have issues with their blood vessels and organs such as their heart and kidneys. Williams syndrome also causes unique physical features, as well as certain developmental and intellectual disorders.

There's no cure for Williams syndrome. But the right treatment plan can help manage your child's symptoms and support them when they have challenges in their daily life.

Down syndrome vs. Williams syndrome

These are both genetic conditions caused by random issues with cell division. And they share some similar symptoms, such as issues with the heart and nervous system. But Down syndrome (DS) is caused by an extra copy of a chromosome (the "thread" inside each of your cells that contains your genes), while Williams syndrome is due to a section of missing chromosome.

What Causes Williams Syndrome?

You have 46 chromosomes (23 pairs) in each of your cells. You can think of these as your body's operating instructions. One specific strand, chromosome 7, contains about 5% of all your DNA.

Babies with Williams syndrome are born without a section of chromosome 7 that contains between 25 and 27 genes. The symptoms your child will have depends on which of these genes are missing. For example, being born without a gene called ELN can lead to heart and blood vessel issues.

So how does part of this chromosome go missing? The issue starts in the sperm or egg before they even meet up. In a small number of cases, babies with Williams syndrome can inherit the genetic deletion from a parent with the condition. But most of the time, it's usually a random glitch in the genes.

How common is Williams syndrome?

This is a rare genetic disorder that affects about 1 in every 7,500 to 10,000 people. Experts estimate that about 20,000 to 30,000 Americans have Williams syndrome.

Who does Williams syndrome affect?

Williams syndrome affects both babies who are assigned female at birth (AFAB) as well as those assigned male at birth (AMAB.) Babies of all ethnicities and races can be born with this condition.

Your risk of having a child with Williams syndrome is higher if you or the other parent has a chromosomal change called an inversion around chromosome 7. But there's no way of knowing this without genetic testing.