William's Syndrome

[GFBetsy]

Don't know that I had a whole lot of purpose in starting this topic except as a "head's up" sort of thing. One of my husband's Laboratory Magazines had an article on celiac that mentioned that the incidence of celiac is 10% for people with Down's, Turner's, or William's Syndrome. I have a friend whose son has William's, so after several weeks of thinking about it, I finally gave her a copy of the article and talked to her about celiac for a while.

Long story short, she had her son tested and his numbers where EXTREMELY high. Because of the genetic component, she had her other 3 children tested, and 1 of them had positive bloodwork as well.

I guess I'm wondering if there is anyone on the board who is dealing with Williams (in a relative, etc.). Or perhaps just wanting to bring out the fact that those with Williams are in a "high risk" category.

If anyone is interested in the name of the article and magazine, let me know and I'll pull it out of my drawer and type that info up here.

[stef-the-kicking-cuty]

Hello Betsy,

I might have heard of it in my german medicine education, but sometimes the names are different in english. What is William's Syndrome?

Stef

[GFBetsy]

My neighbor described it as "kind of the reverse of Down's Syndrome". The Williams Syndrome website (Open Original Shared Link) says that "Williams syndrome is a rare, congenital disorder which occurs in 1 in 7,500 live births. Clinical diagnosis of Williams syndrome is based on a variety of physical and developmental characteristics. Medical diagnosis shows a deletion of genetic material including the elastin gene on chromosome #7. "

Also

"The terms "Williams syndrome" and "Williams-Beuren syndrome" refer to the same syndrome. Williams syndrome is the more common US name, while Williams-Beuren syndrome is the more commonly used term in Europe."

In case that helps you identify it.

People with Williams have a very friendly, talk-to-everyone personality, tend to have a great liking for music, generally have learning disabilities (ADD, etc.), higher blood calcium levels, blood vessel and heart problems, and similar facial features. Here's more info from the website on the facial similarities:

"Most young children with Williams syndrome are described as having similar facial features. These features which tend to be recognized by only a trained geneticist or birth defects specialist, include a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes. Blue and green-eyed children with Williams syndrome can have a prominent "starburst" or white lacy pattern on their iris. Facial features become more apparent with age. "

It's not a really common disorder, but in the past few days I've been realizing that I've met at least one other person with the disorder . . . I used to encounter him regularly at the bus stop where I attended college. It is only as I've thought more about my friend's child that I've thought back and identified the facial and attitudinal similarities.

[happygirl]

Thanks so much for posting this info! I knew about the Downs Syndrome-Celiac link, but didn't know about Williams. Thank you for sharing this.