Hello and welcome to the Zero to Finals podcast.

My name is Tom and in this episode I'm going to be talking to you about William's Syndrome.

If you want to follow along with written notes on this topic,

you can follow along at zero tofinals.com slash William Syndrome

or in the genetic condition section of the zero to finals pediatrics book.

So let's get straight into it.

William syndrome is caused by a deletion of genetic materials on one copy of chromosome 7,

resulting in a person only having a single copy of the genes on this deleted region, which will be

on the other chromosome 7. It's usually the result of a random deletion around the time of

conception rather than being inherited from an affected parent. So what are the key features?

Well, patients may present with a broad forehead, starburst eyes with a star-like pattern

on the iris, flatten nasal bridge, long philtrum, which is the groove between the nose and the

mouth, a wide mouth with widely spaced teeth, a small chin, a very sociable trusting personality,

and mild learning disability. The Tom tip for you, the distinctive features to remember with

William syndrome are the very sociable personality, the starburst eyes, and the wide mouth with a big smile.

It's worth remembering the association with supervalvular aortic stenosis and hypercalcemia,

as these are unique features that are easy for examiners to test in exams.

Let's talk about the associated conditions.

William Syndrome may be associated with supervaluular aortic stenosis,

which is narrowing just above the aortic valve,

attention deficit hyperactivity disorder or ADHD,

hypertension, and hypercalcemia.

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