Pfeiffer Syndrome?

[Korben's Dad]

Is what the Dr's currently think my son has. We're going to see the Geneticist in Dec and will hopefully be able to get a confirmed diagnosis (if there is one) whenever we can get the tests back. I'd love to talk to anyone with any experience with this syndrome. I have a lot of questions about newborn experiences/treatment/symptoms etc. PM me if you prefer.

Here's a link to his thread so far:
http://www.craniokids.org/support/showthread.php?t=19225

Thanks for your help,
Karl - Korben's Dad

[craniomommynbaby]

I hope that you get some answers soon!
My son and I inherited some sort of syndrome but we do not have a name as of yet. The cranio and other features are prominent in many members on my mother's side. We did the testing for Saethre-Chotzen, but that came back negative (no TWIST mutation). Next, they would check the FGFR3 gene for possible Crouzon's.
Treating the cranio in a syndromic case can be a little more complicated. Sometimes (as in our case), multiple surgeries are needed. Also, in our case, we have to watch the midface development now that my son is turning 6 and is past the significant skull growth period.
If you would like to know a little more about our journey, even though it is not with Pfeiffer's, feel free to check out the links in my siggy.

[Jenny]

Hi there! Im a Pfeiffers adult. I'd love to answer any questions you may have. I have a normal life though, and I have three kids of my own. My oldest also has cranio, but I lucked out on the other two! Sorry we have to meet this way..

[Andrea Costa]

Hello
My son was born with bicoronal cranio, he has a toes that bend outwards, broad thumbs and a few other signs that also indicate Pfeiffe´s Syndrome. He´s being tested but the results are inconclusive so far. I´m part o a Pfeiffer´s Syndrome group, here´s the contact ( pfeiffer-syndrome-support@googlegroups.com). Thankfully so far, apart from the craniosynostosis surgery, Cristovao is doing very fine, at 9 months old. Best wishes for Korben
Andrea

[evergreenmom]

I mentioned the CCAkids yahoo group on your other thread- did you get in touch with them? I am glad Korben is doing well... please keep us posted...

[Korben's Dad]

So far I think I've just read over the CCAkids website.

[evergreenmom]

Karl-

CCA is an amazing organization and the yahoo group is made up of families with children going through treatment for craniofacial disorders- many with syndromes including Pfeiffers. Below is the name of the program director and her contact info. If you call or email her and explain Korbens' diagnosis and request an invitation to the Yahoo group I am sure they can be of help to you and Korben.

Annie Reeves, Program Director
800-535-3643 (Phone)
214-570-8811 (Fax)
www.ccakids.org (http://www.ccakids.org/)
empowering and giving hope to individuals and families affected by facial differences

anniereeves2@yahoo.com



I just did a search on the CCA ayhoo group and found several parents of kids with Pfeiffer Syndrome as well as this additional website(mentioned in another post above): pfeiffer-syndrome-support@googlegroups.com (http://health.groups.yahoo.com/group/ccakids/post?postID=sLZ8vwHMJoA9wOhmfX4eyogWGGAyX6So8lv4xQ 7p9CDKGbdhfnrqZYA6Kod9JL3U7saKkrLQQG88GXc3OZmMjLrk l6_TreZbXYBcYK_w4EAulnQ) use this link to apply to become a member http://groups.google.com/group/pfeiffer-syndrome-support?lnk=srg

There may be other groups out there as well but these should be a good starting point for you. Please let us know how Korben is as you go along... Best wishes to you and your sweet little guy...

[Korben's Dad]

Yeah I'm on the google groups one already it seems pretty quiet, (google ending the "pages" option might have something to do with it) so I've been lurking and reading as much as possible. I'll e-mail Annie and see if the Yahoo one has more going on.

[javonsmom]

hey there...i am also a parent of a baby that was recently born with pfieffer type 2. we have been through lots with him and may be able to help you with any questions u may have...let me know

[natalimasar]

Hi there,

I am 17 with Pfeiffer Syndrome Type II. I have had 29 surgeries and counting. I would love to share my story with anyone/everyone. Here's my story which I shared with the rare disease foundation! http://us5.campaign-archive2.com/?u=10ab9d8a99bbbc9504b163e41&id=e66a11593a&e=9f1325d256

Love,
Natali M.