We have a syndrome...

[Lisa]

the genetecist just called. Bradley has Muenke syndrome. I am a little overwhelmed, and a little relieved that it wasn't one of the more severe ones. I am off to do research now to see what we can expect. Hope to talk with any of you that have the same diagnosis.
After talking with her, I really think I have it as well. So that makes me feel a lot better about his outcome.

[Jennifer]

:hugg I don't know alot about the syndrome. But I know a few on here have it. Hopefully they'll be able to help! :hugg

[mayanetser]

Hi Lisa,
Naama has also Muenke syndorme. I will be happy to share with you the information I have. If you send me your email I can send you a good article I have.
Maya

[Lisa]

from what I have found so far, large head size, larger thumbs/big toes and shorter/chubby fingers and toes are some physical characteristics. I have all of these. my big toes are very large compared to my others. and I have been told all of my life that I have very short/fat fingers and toes. I got all of these from my father. So it's very encouraging to know that I probably have had it all of my life and didn't even know it.
Possible developmental delays and slight hearing loss and the only other traits of the syndrome that I see as being a concern, and only 1/3 of the people with it have those.
I am feeling better about it the more I read. It looks like it is one of the mildest of syndromes, so that is encouraging. It's just kind of shocking to find out at first and to now know that both of our kids can be carriers and it affecting generations to come is scary.

[mayanetser]

Lisa,
Naama has normal fingers and toes.
The syndrome is dominant so you can't only be a carrier, you either have it or you don't. The chances of Bradley's or Naama's kids having Muenke is 50%.
Be strong, I am sure we can deal with it and the kids will be ok, happy and healthy.
Maya

[mrs j]

Sorry to hear this Lisa, i don't know anything about syndromes, but i can sort of imagin how you must be feeling, big hugs to the both of you.xxx

[melsch]

Lisa, I too know nothing about syndromes, but I am sending you hugs. I can only imagine how overwhelming this must all be.

[charliesmummy]

I just cant imagine how you feel right now but we are all here for you. Hugs to you & little Bradley xx

[Abby'sMom]

Hi Lisa,

I'm sorry that you are dealing with a syndrome but I'm so glad that it is one of the mild ones. Our geneticist told us she thought that Abby had Meunke syndrome so I tried to learn as much as I could about it while we waited for the lab results. There is limited information about it on the web. In the meantime Abby's results came back negative for everything so we thought we could stop worrying about it but now they want to run additional tests looking for Saethre-Chotzen. I guess the test they ran on Abby for SC detects 68% of cases but now they want to run a different test. I get the sense they are not completely confident with the diagnosis of non-syndromic craniosynostosis. Abby doesn't have any short or webbed fingers or toes and her ears are also normal. Besides the fused coronal sutures she does have a high palette, low hairline and very slightly wide spaced eyes. I'm told these features can be caused by the fused coronals themselves rather than being genetic features. Abby has also passed her infant hearing tests so far but I don't know if that can change in time with a syndrome. A part of me wonders if finding an official syndrome is going to actually alter or improve the care she receives as she grows or if it's just "informational". I hate to put her through more blood tests!

Anyway...I just wanted to let you know that I know how it feels to be worried about the syndrome aspect of craniosynostosis. I also think regardless of the official diagnosis that our kids are going to do just fine.

I hope things went well today with the neurosurgeon...I'll keep an eye on the other threads for your update!

[momtokendall]

Hello! My 5 year old daughter Kendall has Muenke Syndrome too, and she is doing great! Please feel free to message me if you want to talk further.

Best,
Amanda

[Malcolm]

Our son Callum also has Muenke. We were shocked initially, but as we researched the syndrome many of our worries were calmed.

Callum is 20 months and is doing absolutely great. Because of the developmental concerns we had Callum evaluated two weeks ago to see where he stands. He is at an advanced level in every category except for speech, in which they placed him at 17 month level. Which is not a real concern at all.

I am sure your son will be just fine as well. We have tons of information that we can pass on if you like.

[Christina's_Mommy]

My daughter may also have Muenke. She has surgery in 19 days and will be tested then. Good luck to you!!

[mayanetser]

Our son Callum also has Muenke. We were shocked initially, but as we researched the syndrome many of our worries were calmed.

Callum is 20 months and is doing absolutely great. Because of the developmental concerns we had Callum evaluated two weeks ago to see where he stands. He is at an advanced level in every category except for speech, in which they placed him at 17 month level. Which is not a real concern at all.

I am sure your son will be just fine as well. We have tons of information that we can pass on if you like.
Thanks for sharing with us. Did you have Callum's hearing tested? Naama also has Muenke and I would appreciate any information you have. Thanks

[Malcolm]

Yes, we have had his hearing tested twice. So far so good, his hearing is normal.

I will put together some of the info we found and send it along.

[mayanetser]

Yes, we have had his hearing tested twice. So far so good, his hearing is normal.

I will put together some of the info we found and send it along.
Thanks

[Shazza]

Hi I was diagnosed with Cranio' at age 4. It took until I was 37 (in 2003) to diagnose that i have Marfans syndrome. Have had the symptoms for years but no one picked it up. Im 42 now. Im not tall as Marfan people usually are im only 5 foot 3.

I did notice another syndrome on a website called Shriptzen-Goldberg syndrome which includes Marfans and Craniosyntosis. Other syndromes I seem to fit into also as some of my symptoms overlap with others. i also have hearing problems

I also saw mentioned that some people here have odd toes. My daughter was noticed to have her 2nd and 3rd toe look strange. the bit between the two toes does not come down as far on these two toes as it does on all the others. She was about 4 months when we noticed this, when then looking at my own toes i discovered I too had the same thing but a little more pronounced than she. This is noticed on both feet.

regards Sharon

[Christina's_Mommy]

I have never heard of Marfan's or Shriptzen-Goldberg. Are those rare ones? What are some of the features on that?