Anyone familiar with Williams Syndrome?

[slsurface]

So I was listening to NPR yesterday and heard a story about Williams Syndrome. The description sounded just like my 3.5 year old DS (who has been diagnosed with SPD), so I decided to look it up. My DS has many of the symptoms, but not all. I bolded the ones that apply to DS.

* Delayed speech that may later turn into strong speaking ability and strong learning by hearing
* Developmental delay
* Easily distracted, attention deficit disorder (ADD)
* Feeding problems including colic, reflux, and vomiting
* Inward bend of the small finger (clinodactyly)
* Learning disorders
* Mild to moderate mental retardation
* Personality traits including being very friendly, trusting strangers, fearing loud sounds or physical contact, and being interested in music
* Short compared to the rest of the person's family
* Sunken chest (pectus excavatum)
* Unusual appearance of the face
o Flattened nasal bridge with small upturned nose
o Long ridges in the skin that run from the nose to the upper lip (philtrum)
o Prominent lips with an open mouth
o Skin that covers the inner corner of the eye (epicanthal folds)
o Partially missing teeth, defective tooth enamel, or small, widely spaced teeth

Is any one familiar with Williams? Is it possible to have only some of the symptoms? Should I seek genetic testing concerning this?

[askew]

Hi!

I know a little about Williams Syndrome, I have a friend whose daughter has it. The thing I want to point out though, is that a lot of genetic disorders look a like. Most of what you bolded can also be part of many many other syndromes. The best bet if you suspect a chromosome error is to go see a geneticist. They will do a blood test and depending on which test they get your insurance to cover, you will get your results in 10 days or 4 weeks. And to answer your question, it is common for affected people to have some but not all the symptoms. Each individual is different and will express different traits of the syndrome. It is very unlikely for one person to have all the possible traits listed with each syndrome. My advice is to go see genetics and see if they come up with anything. Good luck!

[slsurface]

Originally Posted by askew

Hi!

I know a little about Williams Syndrome, I have a friend whose daughter has it. The thing I want to point out though, is that a lot of genetic disorders look a like. Most of what you bolded can also be part of many many other syndromes. The best bet if you suspect a chromosome error is to go see a geneticist. They will do a blood test and depending on which test they get your insurance to cover, you will get your results in 10 days or 4 weeks. And to answer your question, it is common for affected people to have some but not all the symptoms. Each individual is different and will express different traits of the syndrome. It is very unlikely for one person to have all the possible traits listed with each syndrome. My advice is to go see genetics and see if they come up with anything. Good luck!

Thanks for your response. The thing is, DS did have genetic screening - but for all the usual and obvious stuff. I am somewhat concerned that they may not have tested him for something as specific and rare as Williams, or any number of other rare genetic abnormalities. I hesitate to contact DS's ped about it, because I usually get the feeling that he thinks I'm just a hyper-mom who is worried about everything. But there are many "unusual" things about my son and I really want to get to the bottom of it, yk. It's possible that he only has SPD, but is also possible that the SPD is part of something larger. It's so very hard to get good doctors around here!

Sigh, thanks again...

[askew]

Originally Posted by slsurface

The thing is, DS did have genetic screening - but for all the usual and obvious stuff. I am somewhat concerned that they may not have tested him for something as specific and rare as Williams, or any number of other rare genetic abnormalities.

Williams would show up on a basic chromosome test. It is 7p- I think. In order for it to be Williams a fair amount of genetic material needs to be missing from a certain spot, and as far as chromosome disorders go Williams is one of the more common. But, given that you had basic genetic testing and nothing came of it, you can probably get insurance to pay for the microarray test. This one will find microdeletions. I know 2boyzmama on here has a son that had a normal chromosome test, but the microarray showed a smaller deletion. You can certainly ask a geneticist or a neurologist, if you have one, to run this test for you. Then you would know for certain if there was a chromosome issue.