My friend is adopting...

[Alaina's Mom]

Hi everyone,

I have a friend who thinking of adopting a child with Cranio and a syndrome. I have looked through some of the sites you have recommended, but still have some questions. This baby girl has webbed toes on both feet but it's just the skin...the bones are not joined (syndactally?). They are thinking Pfeiffer or Apert. Her ears are also lower than normal and her right palm has a deep line though she tested negative for Down's.

Ok... so I'm wondering. Mari is the baby's name and she looks pretty normal other than the webbing of the toes (1st and 2nd). Are these syndromes progressive or is it safe to assume that if she is only mildly affected now she will grow and develop normally? I don't even think she knows which sutures are affected yet, but she looks metopic in some pics and coronal in others...so maybe both.

Thanks!

[Christina's_Mommy]

Has Mari been refered to a craniofacial specialist for an eval? How old is she? They can do a CT to confirm the cranio.
I hope everything works out for her.

[HaydensMommy830]

My 2nd & 3rd toes are a little webbed (just like the bottom 1/2...I have finger toes...lol) and nothing else was wrong with me! I would have her evaluated though.

[Alaina's Mom]

I think she is around 6 months or so. They seem to have done much evaluation but what was forwarded to me is so wordy it's confusing. I think that they did an ultrasound of her head...is that weird? I've never heard of an ultrasound to look at Cranio.

[mattricia]

Surprisingly we were referred for an ultrasound in the beginning b/c neither of the two peds in our practice knew enough to even suspect cranio! The ultrasound was to check for hydrocephalus!!! Ugh. Three months later we finally got in to see the neurologist who spent an hour explaining his suspicion and what cranio was. Two days later, via CT scan, we had a sagittal cranio diagnosis. So much wasted time...

For those of you who are new here, our timeline breaks down like this: 3 months to see neurologist (we didn't question it b/c we thought w/ a wait like that, must be nothing to worry about...total BS), 1 month to see NS/PS, 2.5 months for first surgery date, had a cough, postponed for another 7 weeks. So eight months in all. We had concerns about the ridges when he was one month old. So yeah, he'll be 9 1/2 months at surgery time. It without that initial wait, it could've been done three months ago and moving on with our lives.

I'm sorry i had to vent again. It's been a while since i've done it. Every now and then, the helplessness and frustration at the incompetence of the ped rears it's ugly head. Thanks for listening...

[Jenny]

as far as if they are suspecting pfeiffers, it depends on which strain.. i was diagnosed with pfeiffers as a baby, i also have 4th digit toe webbing, along with broadening thumbs and big toes. They diagnosed me with the strain that does not affect any kind of brain function, so there wouldn't be any retardation. And as far as the other strain, it depends on the actual severity. The pics of these kids that I have seen have been SEVERELY deformed, sort of like the elephant man.. They look nothing like any of the kiddos I have seen on craniokids so far. Check out this website, it gives more info on the different types of cranio, including both versions of pfeiffers, which by the has to do with the FGFR gene:

http://www.geneclinics.org/profiles/craniosynostosis/details.html