Syndome Inquiry

[carrielulu]

Im really driving myself nuts over this but its unknown whether my dughter has a syndrome...her pediatriciam seems to think yes because of her low set ears, craniosynostosis and 4th and 5th webbed toes. the genetisist i think might as hes testing for something but never told me what.

i dont know!! she seems to look normal, other than a couple of things that i think are simply caused by her cranio like the low set ears and misshapen eye....as for the slight webbing of her 4th and 5th toes...fluke??

then again some of you who say your child has something appear so normal as well!

is it possible that you can list your childs syndrome along with any abnormal features? i am trying to do all the research i can, and comparing to real people is the best thing i can think of.

i will go first..

Syndome: unknown
Features: craniosysnostis (3 sutures - lam, cor and sag), 4th and 5th webbed toe (on both feet), low set ears, misshaped eye (causing eyes to appear wide set).

[cheryl2]

Syndrome: Saethre-Chotzen
Features: craniosynostosis, ptosis, strabismus, unilateral hearing loss

I also have Saethre-Chotzen. I had all the same features except for cranio.

Are you getting genetic testing done?

[mayashekhina]

Im sorry I agree with your pediatrician, low set ears are an ear mark (sorry for the pun) for a genetic condition as is the web toes, wide set eyes and multiple fused sutures- nothing it seems simply occurs for no reason, if there is no apparent reason that just means the technology isnt good enough yet to pick up on the problem- that is advice from my daughters cardiologist.

My daughter has a chromosome deletion -2q37.1 terminal deletion de nova, her twin brother has klinefelters or 47 xxy de nova. a good place to search for answers would be

http://www.nlm.nih.gov/archive/20061212/mesh/jablonski/mesh/jablonski/syndrome_db.html

this is an archive of syndromes it was closed since december last year meaning it is no longer being updated or maintained but the information is still current, and you can enter your babys symptoms and review the results, hope this helps.

[carrielulu]

wow thank you just what i was looking for. yes shes getting gen. testing done in a few months..lol thats considered quick where im from!!

[Satori]

I agree, it does sound syndromic and like Saethre-chotzen. I have an odd question, what do the back of her ears look like? I didn't even notice my dd had marks that look like adhesions until she was a couple months old and they were pretty severe at that point. The appearance has really improved over the months.

[mayashekhina]

Could also be Apert syndrome.

[mommysbudbud]

Correct me if I am wrong, but with Saethre Chotzen Syndrome...the ears are different. Meaning one has a 'train track' appearance and the other ear doesn't.

My son has either Crouzons or Pfeiffer Syndrome. Genetic testing came back negative for both (2 times) which is not uncommon.
Discovered at 2 weeks old that he had sagittal synostosis...then by surgery time at 6 months, both of his coronals were fused half way up.
Wide set eyes
Slightly prominent eyes
He has a mild form, most children with these syndromes have wide spaces big toes and bent thumbs. His toes and fingers are normal looking.

[cheryl2]

The difficulty with diagnosing syndromes is that people with these syndromes don't have identical features. Clara and I have Saethre-Chotzen, but our ears appear normal. I do know that some people with SCS may have abnormally shaped ears, but I don't remember reading anything about a "train track" appearance. SCS people also may have webbed toes or fingers. I don't, but I do have bent pinkies, short fingers and a wide space in between my big toe and my little ones.

The geneticist we spoke to told us that genes are only partially responsible for the features the person with a syndrome will exhibit. Environmental factors, the interaction between the genes of the other parent, and who knows what else also play a part in determining what features the person will have. Geneticists don't always have all the answers.

Hope this helps,
Cheryl

[Satori]

I haven't heard of the train track appearence thing either.

[carrielulu]

hmm...well one thing about her ears is that they have little indents on them, almost looks like ear piercings. ive never looked at the back though. she is being tested for the P250R mutation in the FGFR3 gene. This mutation is associated with a non-syndromic form of coronal craniosynostosis. This means that aside from the craniosynostosis, there are no other features in the individual. This mutation has been found in families where an unaffected parent went on to have an affected child.

[mommysbudbud]

Her daughter looks nothing at all like a person with Aperts Syndrome.

My son has Crouzon-Pfeiffer Syndrome.
Wide spaced eyes
prominent eyes
multiply cranio

Multiple cranio is always a syndrome.

[mommysbudbud]

FGFR3 is where the geneticist check for Crouzon and Pfeiffer Syndrome.
Remember though that test results can come back negative even though your child may have a syndrome.
My son's was a gene mutation. No one in my family has a craniofacial syndrome. Of course now though, he has a 50% chance of passing the syndrome to his children.

[Satori]

hmm...well one thing about her ears is that they have little indents on them, almost looks like ear piercings. ive never looked at the back though. she is being tested for the P250R mutation in the FGFR3 gene. This mutation is associated with a non-syndromic form of coronal craniosynostosis. This means that aside from the craniosynostosis, there are no other features in the individual. This mutation has been found in families where an unaffected parent went on to have an affected child.

I know those indents your talking about, my dd has them. No clue what they are, I don't have them and neither does my older dd. I assumed it was part of the SCS.

[Jenny]

Wow, i wish i knew!
What i'm saying is...
I am 27 and i was diagnosed as a baby with pfeiffer's syndrome. I had 2 suture closures, broadened thumbs and big toes, and 5 th digit webbing on the toes.
Now here's the twist. I have a 4 year old daughter, also cranio baby. same suture closures, wide set eyes, lower ears, but no widened thumbs or toes, no webbing.
When we went to her geneticist (ironically the SAME one who diagnosed me when i was little) she told me that my daughter's was not pfeiffer's, and that she didn't think mine was either! Would love to get the genetic testing done, but can't afford to.
I was also told a 50/50 chance of my kids having it. Which so far is what has happened. My first daughter has it, the second doesn't. Were trying for a third, hopefully we'll be lucky this time too, for a boy! BUT i also heard that the syndrome occurs more in boys, than girls. ahh!!!

[mommysbudbud]

The syndrome does not occur more in one sex versus the other. It is 50 50 chance regardless. Is it possible that you and your daughter have Crouzon Syndrome? The picture of your daughter (next to your post), if she has something...it is mild. She is adorable. Keep trying for that son! Here is my son's blog, I haven't updated it in a month or so. We have done the genetic testing on him 4 times, been told he has either Crouzons or Pfeiffers. He has a mild form. At the bottom of his page, you can click on the 'older post' to see other pics of him. Dawn http://chroniclesofcole.blogspot.com

[Katie]

Dillons has been "unofficially" diagnosed with SCS. We went over the possibility of Pfeiffer or Cruezon with Dillon's genetecist, but he ruled them out, simply because for some reason Dillon's case was a bit different that Jenny's or Mikayla's in that his metopic was also fused. He said that SCS is commonly one of the few syndromes which symptoms can vary from family member to family member, and also told us that future children have a 50/50 chance of having it as well. Dillon had multiple fusions (bi-coronal and metopic), high arched palate, missing palmers crease, broad big toes, and a thing with his ears that I can't really describe (the way the cartlidge meets the inner ear). He also has vision and hearing concerns which could possibly be related to the syndrome.
The genetecist looked at Doug and pointed out a few features we hadn't previously noticed, that indicated he may have had a mild, undiagnosed case as well.

[Jenny]

:thinking okay, everyone needs to stop abbreviating everything, lol! katie, what the heck is scs? is that the saithre chozen whatever? and what is cvr, foa, etc? i really hate typing out "Kayla has a cranio recondstructive and facial recon surgery. lol.. :thinking

[Jenny]

I know this is a long post with the pics, but since people are asking about before and afters, and passing from parent to child, I figured I'd post my pics. Please take a look and feel free to share. My daughter and I both had bi-coronal synostosis. I will also post these in the pics section.

Mommy as a baby-pre surgery
http://i80.photobucket.com/albums/j191/garnerjenr/JenBaby1-1.jpg

Kayla before surgery
http://i80.photobucket.com/albums/j191/garnerjenr/Kayla2.jpg

Kayla 24 hours post-op (graphic)
http://s80.photobucket.com/albums/j191/garnerjenr/?action=view&current=Mikayla.jpg

Kayla one week after surgery
http://i80.photobucket.com/albums/j191/garnerjenr/P1010044.jpg

Kayla one month after surgery
http://i80.photobucket.com/albums/j191/garnerjenr/BathtubMikayla8.jpg

Kayla as a big girl!
http://i80.photobucket.com/albums/j191/garnerjenr/KaylaCar.jpg

[Katie]

:adore Look at Kayla :adore. And Jenny, I think that is the first time I've seen a picture of you pre-op.

SCS= Saethre Chotzen Syndrome
CVR= Cranial Vault Reconstruction (or repair)
FOA= Fronto-Orbital Advancement

[cheryl2]

The SCS in our family really has been variable. Clara is the first person to have cranio. Because of that, Clara and I got tested so we now know what the syndrome is. I was the first one to have a hearing loss. It was thought to be unrelated, but Clara has the same loss, so it seems like it's part of the syndrome. My dad, grandpa, and other relatives all have ptosis and oddly shaped hands (not webbed though).

It's kind of interesting that Clara and Dillon both have 4th nerve palsy. And Jenny, Kayla reminds me of Clara. They both have the same face shape, I think. She's adorable :-)

[Elizabeth]

Carrielulu...

I don't know if your doctors have made a determination of syndrome or not yet, but I was rereading your post today and noticed that she and Isaac have almost identical fusions...except that he has bi-coronal, saggittal, and lamboid...so one additional fusion. We had genetic testing done 3 weeks ago...should get results in 1-3 more weeks...I will be sure to let you know what we find out about him! Their head shapes look very similar. (Also, you might think about emailing Dr Fearon in Texas...he isn't our dr (we are in IN) but he did think that Isaac might have a very rare case that he called "Z-pattern" Craniosynostosis...L coronal, saggittal, R lamboid...that has only been reported 2 times before. His Email addy is Cranio700@aol.com.)

I'll let you know what we find out!

[carrielulu]

whats the news?

he is adorable!!!

doesnt appear syndro,matic

[Elizabeth]

Came back negative for all the "common" syndromes...so at this point, we know there is some kind of genetic mutation but don't know what it is. We are going to hopefully send out another sample to a lab in Germany in April or May to see if we can find anything out!!

Thanks, by the way...we think he's pretty cute, too!!

[carrielulu]

hayleighs results also came back negative/normal

[mommysbudbud]

We just received a call from the geneticist, he wants to see my son again. Hmmm, no idea why. Last time we saw this geneticist was 2 yrs ago. He happily said that Cole has Crouzon Syndrome and let us walk out of his office with nothing...no information on the syndrome or anything.

We are waiting here by the phone for the phone call to see when Cole's appt will be. I hope it is real soon and that they don't make us wait until mid January.

We were told on Tuesday when we saw Cole's craniofacial team that Crouzon Syndrome and Pfeiffer Syndrome are only 50 to 60% detectable.