C Syndrome?

[vancesmommy]

Has anyone heard of this? Vance had a genetics appointment yesterday. After he reviewed his records from Ohio he said that all of his chromosome work ups came back normal, but he thinks he could have C syndrome. He said he has to wait until he finds someone that is doing research on it before any tests can be done. So we have no idea when and if we will ever get any answers. He also said that it ups our chances of having another baby with Vance's problems to at least 1 in 4. Would that stop you from having another? We were planning on starting to try at this end of this year, but now I don't know. Oh, and to top it off I have to take Vance to have an ultra sound of his kidneys to see if there is any problems because he has "ear pits"! I think I am going to go :crazy :crazy !

[Katie]

First, a big :hugg
C Syndrome is also called Opitz trigonocephaly syndrome. Unfortunately, it's about as hard to find information on as SCS. Every page I found on it only has a very brief and general descirption on it. It often consists of not only metopic cranio, but malformed joints, loose skin, and developmental delays. Does Vance have any of those concerns? I'll keep looking to see if I can find any more info on it :hugg

ETA- I did notice that it appears to be a chromosomal defect that causes it. If Vances chromosomal work up came back normal, hopefully that means it's just a fals alarm :hugg
I did find a Yahoo group for parents whose children have this condition. You can sned an email which will be forwarded to all the members of the group that may be able to help with some answers.
http://health.groups.yahoo.com/group/otsfn/
Here is a page that explains there are three different types of the syndrome:
http://www.widesmiles.org/cleftlinks/WS-237.html

[vancesmommy]

Thanks Katie!:hugg I bought the whole article that contained that info, but it didn't really help out much. He has a few of the symptoms, but most of them don't seem to apply to him. I'm not sure why the geneticist is worried, since he did say that everything else was normal. I just wish I knew if and what he has. Not only the cranio, and cleft lip and palate, but he also has a very distinctive look. Hopefully we will get some answers!!!

[verdon2]

:idea God Katie, you are SMART!!! You know the answers to everything, and if you don't you know where we can look to get some.... :icon_mrgr As far as Vance is concerned, I wish you the best. And if you are afraid of having a baby w/ the same problems it would be normal. BUT look how handsome both your boys are, the world could use some more beautiful babies!!!:hugg (by the way, what are "ear pits?")

[mikaylasmommy]

but he also has a very distinctive look. Hopefully we will get some answers!!!
Please don't be offended by anything that I am going to say. I think your son is beautiful. I don't see a distinctive look about him. I don't know if it is just the pictures on here but, he looks like he might have a wandering eye. Has he been seen by an opthalmologist. I am sure he has being as that is some times how they check pressure. Like I said it may just be the picture. I hope I didn't offend you at all. I can't see anything about his face that anyone would consider "wrong". Maybe it is just because I am a fellow cranio mommy but I really don't see anything. I mentioned the eyes because Mikayla got a lot more stares when her eyes were misaligned.

[vancesmommy]

Jenny, you didn't offend me at all! He has been seen by an ophthalmologist because when he was born they though he might have glaucoma, and he doesn't close his eyes all the way. His dad has a wandering eye if he doesn't wear his glasses, so it is a possiblity. He has an eye appointment on 3-31. This is the first one since his surgery, so I am curious to what they will say!

[Lauren]

I haven't posted any responses to the recent discussions about how others perceive our children because I haven't had the time that these discussions deserve. I also don't want to "do it wrong" and offend anyone and then not be around to explain myself if need be. So, here goes.... Denise, I think you hit it right on the head when you said "distinctive". All of our kids have distinctive features as a result of the cranio (or any other issues they may have had). I know personally, Matthew's head is still "taller" than Danny's and slightly more bossy in his forhead. While it looks far better than it would if we hadn't done surgery, there is still a difference and I would be lying if I said I didn't see it. BUT, that's what makes him Matthew. Distinctive isn't wrong....it's just what you notice first. Unfortunately, kids and some adults don't have the social filter to know how to respond to some things that they notice. So the next time any of us get "the stare" or worse, "the comments", we should be prepared with a savvy comeback like, Wow, I'm sorry that you noticed that before you noticed how well he could.....
Just my two cents.

[plukids]

((HUGS)) Denise! Did the geneticist say why he suspects C syndrome? Did he give you any info? I sure hope so. It is hard when the physcians put something out there with not a lot of info. If he does have it then what? What's next? Do you need to do anything different? As far as having another baby, that is a personal family decision. Having a baby with cranio increases the possiblity that another will have cranio. That would not stop me. Your boys are GORGEOUS!

[vancesmommy]

Lauren I couldn't have said it any better!

Lisa, The geneticist just said he wanted to have him checked for C syndrome. He didn't really give me any info, and for some reason it seems like every time they tell me something "might" be wrong I lose my train of thought and don't ask any questions!! I looked up what I could about it and the only thing I know is that it ups the chances of having another with the same problems. I have a list of symptoms/features associated with it, and some apply. I just don't know! Right now he is a very happy little man and he seems to be catching up to kids his age, so I am going to try not worrying too much!

[plukids]

:hugg Denise I know right were you are with the lack of questions at the doctor's office. I did the same thing with Casey this week. When the doctor says something that I am not expecting I just SPACE out and I leave feeling numb. I hope you get answers or atleast more info soon! Keep us posted!