Questions about Saethre -Chotzen syndrome

[mom to cranio twins]

HI:
My 2 yr old daughter, Carson, just had her 2nd (sagittal) CVR in August.

Last Monday, I took all 4 of kids ( 2 sets of twins) to a geneticist and she looked in all 4 kids ears, and mine, and said that she was 99 % sure that Carson has SCS (she also had blood drawn). AS far as I can tell, that is the only "symptom" she has.

Can anyone explain this syndrome to me a bit more?

Can it cause Carson to have a 3rd surgery?

Thanks,
Cindy

[Maddy's Mom]

My daughter was diagnosed with Saethre-Chotzen by a blood test. We were told that she has a mutation/duplication of the TWIST gene on the 7th chromosome that affects growth and development. Aside from her cranio, the geneticist also noted that she has a low frontal hairline and broad big toes. Our ped noticed that she has a high pallette and her ear canals were very small/narrow, but not sure if these are more related to the cranio. My understanding is that she may grow to be below average height and it's possible (not probable, though) that she could have some developmental delays. So far she seems to be meeting all of her milestones and her size isn't too far from average, though. They don't think that my husband or I have it, but we are waiting on the results of our bloodwork. I have read that it can present very mildly, so maybe one of us has it and never knew??

That's about all I know at this point. I too would love more info, so please keep me posted on whatever you can find out.

[cheryl2]

Hi, Cindy,
My daughter Clara and I both have SCS. The syndrome can range from mild to severe, even among families. I don't think there would be a way to predict if Carson would need more surgery. Clara and I both have a deletion on the TWIST gene in chromosome 7. But Clara has cranio, and I did not. They diagnosed me when Clara was diagnosed because I did have ptosis (droopy eyelids), and other features common with SCS. The way the geneticist explained it, there are other factors at work besides the inheritance of the SCS gene. The genes from both parents interact, and can produce a variety of outcomes.

Maddy, Clara and I also have a low hairline, broad big toes, and crooked pinkys. Clara also had very small ear canals. Both are ears look normal, but are set lower on the head than normal. I have read about the short stature. I am 5'1, and most of my family is of average or above average height. Clara is a little bit shorter than average, but her father is 5'2. So if she ends up being short, who knows if it is because of SCS or just having short parents. I read that developmental delays are usually present if there are other genes on chromosome 7 affected but not if there just a mutation of the gene. Clara has some mild motor delays, but she is cognitively fine.

The only other thing Clara and I both have is deafness in our left ear. I have not found anything that says that is a feature of SCS, but there you go.

Here's some links:
http://www.faces-cranio.org/Disord/Saethre.htm

Here's where I read about developmental delays:
http://ghr.nlm.nih.gov/condition=saethrechotzensyndrome

Quote: A small number of cases of Saethre-Chotzen syndrome have resulted from a structural chromosomal abnormality, such as a deletion or rearrangement of genetic material, in the region of chromosome 7 that contains the TWIST1 gene. When Saethre-Chotzen syndrome is caused by a chromosomal deletion instead of a mutation within the TWIST1 gene, affected children are much more likely to have mental retardation, developmental delay, and learning difficulties. These features are typically not seen in classic cases of Saethre-Chotzen syndrome. Researchers believe that a loss of other genes on chromosome 7 may be responsible for these additional features.

Hope this helps :)

[Katie]

You've had good informaiton from these teo :yes It's believed by Dillon's geneticist that SCS is what he has. His main symptoms were the cranio and his ears, as well as a low set hairline with a cowlick, a high arched palate, crooked pinkeys, and broad big toes. It can range from so mild it's not ever noticed, or exteremly severe. Most of the time there's no two cases exactly alike. Aside from the cranio which is present in most cases, there is a 50% chance of someone with it passing it on to their children.
Dillon had the blood test for it too, but unfortunately the particular one he had only has a 68% detection rate. It came back negative, but there ar eother tests that can be done. His geneticist is almost certain that's what it is though, so for now we won't be doing any more blood work.

ETA- He also has ptosis and has had eye muscle repair surgery. Overall, his health and development are excellent. He has some motor and speech delays, but those will correct over time with therapy.

[mom to cranio twins]

Thanks to everyone that posted. They did tell me she could be shorter than the rest of us, but who knows. The only other things she has that presenst SCS, is her ears. They are a bit smaller and they have a distinct area within the loob that states she most likely has scs.

I guess I won't panic to much until I hear back from the blood work.

Thanks again to all that replied.

Cindy