Anyone familiar with Muenke Syndrome?

[Abby'sMom]

Hi all,

Just wondering if anyone out there has this diagnosis or knows anything about it? Abby saw the geneticist a couple of weeks ago and that is what the doctor suspected. It will probably be another 3 weeks before we know the results of the genetics tests. It's so hard to wait! I haven't been able to find much about Meunke. The mutation was apparently discovered fairly recently (1996?) and is relatively mild in it's presentation compared to some of the other syndromes. I also understand there is a study going on for confirmed cases. Anyone have a child in that study?

In addition to being bicoronal with the associated head shape, Abby has a high palate and slightly wide spaced and slanted eyes. No other remarkable features anywhere. The neurosurgeon thought she had a "good midface". The geneticist thought it was a little recessed. The geneticist said it's possible that these facial features could just be the result of the coronal sutures being fused. Anyone out there with a bicoronal child who saw an improvement or change in facial features just as a product of releasing the fused sutures?

Thanks!

P.S. When the geneticist first told us Abby could have Meunke Syndrome it sounded like she said "Monkey Syndrome". I'm sure you can imagine the look on my face!
:thud

[Jenny]

Hi Abby,

check out this page:
http://www.geneclinics.org/profiles/craniosynostosis/details.html

It gives the symptoms of the 8 cranio syndromes that are out there, in addition to what i already sent in the other thread..


Oh yeah, i forgot to mention that muenke is the nonsydromatic version of saethre-chotzen. I found this on this page:
http://www.geneclinics.org/servlet/access?id=8888890&key=EZNSy-Ii-bH7f&gry=INSERTGRY&fcn=y&fw=3u5d&filename=/glossary/profiles/scs/index.html
they are very similar in their symptoms. My nephews was diagnosed with the saethre-chotzen, so more than likely thats what my daughter and I are as well.

[Elizabeth]

http://ghr.nlm.nih.gov/condition=muenkesyndrome Here's another link...

Isaac hasn't been diagnosed with a syndrome yet, but I am trying to keep up to date on all this stuff...I read somewhere that there are 150 known craniosynostosis syndromes...is that right??

[Abby'sMom]

Thanks Jenny...these websites will be very helpful. I'm going to spend some time carefully reading them and trying to get a better understanding. I'll probably end up with more questions! I wonder why Meunke syndrome is called a "syndrome" if it's non-syndromatic?

Elizabeth...the geneticist did tell us there were over 150 syndromes associated with craniosynostosis but she said the majority of them are so rare and associated with other very serious deformities or health problems that most of them are ruled out just by walking in the exam room with an otherwise healthy child.

I forgot to mention that Abby also has a low hairline.

Hi Abby,

check out this page:
http://www.geneclinics.org/profiles/craniosynostosis/details.html

It gives the symptoms of the 8 cranio syndromes that are out there, in addition to what i already sent in the other thread..


Oh yeah, i forgot to mention that muenke is the nonsydromatic version of saethre-chotzen. I found this on this page:
http://www.geneclinics.org/servlet/access?id=8888890&key=EZNSy-Ii-bH7f&gry=INSERTGRY&fcn=y&fw=3u5d&filename=/glossary/profiles/scs/index.html
they are very similar in their symptoms. My nephews was diagnosed with the saethre-chotzen, so more than likely thats what my daughter and I are as well.

[Jenny]

hmmm.. thats a good question? maybe because its multiple sutures, but because it can occur without a previous trace of syndrome? I've heard a lot of people say that if its multiple sutures, then its syndromatic? or maybe its an expression.. i dunno..

[craniomommynbaby]

Simon also has a highly arched palate and wide-set eyes. His craniofacial surgeon said that the eye spacing is an indicator of a syndrome. She also commented that we will need to make sure that we have good dental insurance; he will probably need some work in the future.

I have included a newborn pic here for you to see his head shape. With the surgery, we saw a dramatic change. The orbital advancement helped his eyes, and his head got rounder as he grew. People now forget that he even had surgery.

http://i42.photobucket.com/albums/e344/c2scofield/Birth/Lookingaround.jpg

[Christina's_Mommy]

My daughter may have Muenke Syndrome also. She will be tested when she has the surgery. The genecistist told us that they would test the FGFR 2 and 3 genes. I think it is 3 though that causes Muenke. I wish there was more online about it. I guess it's pretty rare tough. I won't know about changes in features on Christina till after surgery. Feel free to look at my profile. I have a few more pics of my daughter there. Best of luck!

[Christina's_Mommy]

oh... I was once told that Muenke was like a mild Crouzon?? They are testing Christina for that also though it's unlikely she has it. Thanks for the links also. I will check them out myself.

[mommysbudbud]

I know a mom who has a 4 1/2 yr old with muenke syndrome. The daughter was born with bicoronal synostosis. At 3 1/2 yrs old, her midface was still growing properly and Dr. Muenke told her that usually children with a craniofacial syndrome that make it that far with out showing any signs of a recessed midface usually never need a midface advancement. But you never know what that gene mutation will do. Dr. Muenke also told the family that their daughters appearance..cranio stretching the eye sockets and cheekbones was caused by the bicoronal synostosis.
Here is a website that might be helpful: http://www.headlines.org.uk/HL15%20Muenke%20Syndrome.pdf

My son is going to be seen by his craniofacial team on the 18th and I am going to bring this syndrome to their attention. I too have heard that it is a mild form of Crouzons. But with these syndromes, their is a big spectrum..their are people with Crouzons who have never had or needed a surgery and their are people with Crouzons that have needed atleast 30 surgeries by the time they are 10 yrs old.
My son is almost 28 months old and his midface is growing fine (thank goodness!). But strangely his lower jaw or chin is not growing like it should. His teeth line up which is good. I am afraid to see what his craniofacial team says about it. He hasn't been seen by his craniofacial team for a year.
Something to ask your cranio team and geneticist is, what percentage of cases come back negative when in fact the individual does have the syndrome. The tiny mutation is not always easy to find.
Best Wishes. Dawn

[carrielulu]

i read that muenke syndrome is a 1 in 30,000 babies condition.

sigh..not rare enough im afraid...however i also hear that many go undetected because most do have normal intelect...am i right?

my dd also is being tested for muenke...she has wide spaced eyes, which is not a common trait in our family being that i and the rest of my children have close set eyes...

her baby toes are also slightly webbed.

[Christina's_Mommy]

Well, Carrie, looks like you already found this link. lol I replied to the multi suture thread about this one. Beat me to it. :)

[mayanetser]

Hi,
My daughter was diagnosed with Muenke syndrom last week and I have learned quite a lot about it.
Please feel free to ask if you have any questions.
Maya

[mommysbudbud]

Maya!
Well you have a diagnoses, did they confirm it through genetic testing? We meet with Cole's cranio team next week and I am going to bring this up to them. What are the plans? How about her surgery?
Hope you are all doing well.
Take Care, Dawn

[mayanetser]

Hi Dawn,
We had a busy month.
We flew to NY had blood tests taken to check syndromes and results came back a few days ago with Muenke.
At least now we know what to expect and what its not.
I dont think it is that bad. Naama is doing great she is already three months old, already rolling from her stomach to her back and cooing.
We are planned to have surgery performed here in Tel Aviv on January 15 and hope we don't need another one.
How are you doing?

[mommysbudbud]

Wow! 3 months old! That went by very fast!
So glad though that you have that answer though. No more wondering if she has something and if so, what is it. You have probably read enough on these boards to know, building up to the surgery is hard. Sad. But once you are past the surgery, their seems to be a ton of relief.
Cole is doing well. So far anyways. Will have to see what his craniofacial team says though. I will let you know how his appt. goes. See if they give us a more clear picture of what syndrome he has. Worried though about his bottom chin. It seems to have slowed down in growth. His teeth are lining up correctly. Usually with these syndromes, it is the upper jaw that has issues. Cole is such a mystery, that is what the doctors say too. No one can really figure him out.
Anyways, glad things are moving forward for you all.
Have a great weekend. Dawn

[mayanetser]

Hope all goes well with Cole, let me know.
As for the surgery I think I am more worried about the future than the surgery. Wondering what else if at all may go wrong and if we will need more than one surgery.
How old is Cole?
Did you check for Muenke?

[mommysbudbud]

I, too worry about the future. Cole is almost 28 months old.
My biggest fear I guess is, is this the only time in his life that he will look 'normal'. I worry about the fluid in his head. I worry about surgeries and scars. Mothers..parents have enough to worry about with their children but to ad all this extra stuff to it. It is rough.
I am grateful that we made it through yesterday, today is a new day. Tonight I will feel grateful if we make it through today without anything coming up with the syndrome. As all of the moms that I know who have a child with a craniofacial syndrome say, you have noisy times in your life (surgery, hospital, sickness) then you have times of a normal life and at the back of your head you are wondering when that noisy stuff may happen. Then you forget about it all....then something comes up all over again.
No one has said anything about Muenke. But if you look at all the children with Pfeiffer Syndrome and Crouzon Syndrome, they all have some similar look about them. We have been told that Cole looks like a child with Crouzons but has the messed up skull like a child with Pfeiffers, I don't see it. I don't think he looks like either. Even parents who have a child with a syndrome have told me that he doesn't look like he has a syndrome. I don't know, he is my son and I see him as completely adorable. What strangers see, I don't know.
Well I am going to go and lay down. I have a cold and can feel it moving to my chest.
I am going to try and get a hold of a mom who has a daughter with Muenke Syndome. She is 4 1/2 yrs old. I will let you know when and if I hear back from her. Maybe you two can exchange emails.
Have a good day. Dawn

[mayanetser]

thanks that would be helpful, feel better

[Abby'sMom]

What kind of surgery will they be doing in January...CVR or endoscopic? Our geneticist told us that if Abby does test positive for Meunke that this increases the possibility that her sutures could fuse again. Have you heard anything about this? Can you share what you've been told to expect and/or not to worry about concerning physical appearance or other health issues in children with Meunke?

My daughter's endoscopic surgery is scheduled for Dec. 26th but it is unlikely we'll have the results of her genetics tests back by then.

Thank you,

[mayanetser]

Hi Mandy,<?xml:namespace prefix = o ns = "urn:schemas-microsoft-com:office:office" /><o:p></o:p>
My daughter is scheduled for CVR FOA in January. At the beginning of the process we checked the possibility of having endoscopic surgery and very quickly understood it will not suit Naama. If the forehead needs to be forwarded you will want to perform the traditional surgery for better results. <o:p></o:p>
It is true that if your child has a syndrome it will increase the possibility of needing an additional surgery.<o:p></o:p>
Most doctors we consulted told us that is raises the chances from 5% to 25%.<o:p></o:p>
I think there are two different attitudes amongst the doctors.
Some believe that surgery for Bi-Coronal should be performed between 3-6 months others believe that it should be performed around 9 months.
We decided not to wait. I believe that the results are better if you have it around 4 months although the risk involved is higher.
If you want more information I would love to talk to you, just let me know.
Maya

[momtokendall]

Hello all-
My 5 year old daughter has Muenke Syndrome and has had 3 surgeries. Maya- my email is ajreed32@comcast.net, I would be more than happy to talk to you about our experiences. I also run a Muenke Syndrome yahoo group here: http://health.groups.yahoo.com/group/muenke_syndrome/.

Best,
Amanda

[UticaMom0406]

Hi! My family has Muenke Syndrome. It is on my Mom's side. Originally we were diagnosed with Crouzon's Syndrome, but then our doctor did a genetic test and found out it is Muenke Syndrome, not Crouzon's! Has this happened to anyone else?

[mysis]

My sister is 32 years old and has Meunke syndrome. She is believed to had gotten it from my mother that has never had the surgury or even been tested for it. However all of my sisters 5 children were born with a type of craniosynistosis. Her oldest is 16 years old and is doing alright. Her daughter of 13 share's meunke sysndrome and so does her youngest son of 8. I how ever do not seem to have any sort of the craniosynistosis. If you would like to speak with my sister she could share to you her story and how she has been dealing with it for all of her life and of her children. Please feel free to contact me if you wish. thank you and god bless you





Hi all,

Just wondering if anyone out there has this diagnosis or knows anything about it? Abby saw the geneticist a couple of weeks ago and that is what the doctor suspected. It will probably be another 3 weeks before we know the results of the genetics tests. It's so hard to wait! I haven't been able to find much about Meunke. The mutation was apparently discovered fairly recently (1996?) and is relatively mild in it's presentation compared to some of the other syndromes. I also understand there is a study going on for confirmed cases. Anyone have a child in that study?

In addition to being bicoronal with the associated head shape, Abby has a high palate and slightly wide spaced and slanted eyes. No other remarkable features anywhere. The neurosurgeon thought she had a "good midface". The geneticist thought it was a little recessed. The geneticist said it's possible that these facial features could just be the result of the coronal sutures being fused. Anyone out there with a bicoronal child who saw an improvement or change in facial features just as a product of releasing the fused sutures?

Thanks!

P.S. When the geneticist first told us Abby could have Meunke Syndrome it sounded like she said "Monkey Syndrome". I'm sure you can imagine the look on my face!
:thud

[Tawnia]

Mysis...the date on this thread is almost 2 yrs ago. Perhaps you could tell about your sister in a new thread?

[sophie'smom]

Hi Mandy, I went through all of the testing at UCSF. There has been one paper published to date (1997) and I have it with me. Do you want me to fax it to you tomorrow? The test for Muenke syndrome is conclusive, so they will tell you with certainty if she has it or if she does not (FGFR3 mutation is what they are looking for). Crouzon testing is slightly greater than 50%, but if they handle your testing like they did mine, they will also recommend that she get tested for Crouzon due to the variations (I know Abby like Sophie does not have proptosis though). Muenke is often related to coronal synostosis and so this is why Sophie was tested as well. Mid face hypoplasia is one common indicator for Muenke, but who knows all mutations can have cross over. The good news is that all things associated are treatable. Hearing loss if it occurs, developmental delays (you would have already noticed something by now and this only occurs in a minority), orthodontic treatment, etc. Please holler if I can share more. Hugs, Ingrid ... oops as Tawnia just said, this is a really old thread. Well, if it can help anyone else, maybe it will be worth it.

[Abby'sMom]

Thank you Mysis and Ingrid for your wonderful supportive posts.
:hugg

I actually started this thread more than a year ago before Abby had surgery...I was brand new to the world of cranio and possible syndromes. I'm happy to report that all of Abby's genetic testing last year (2 rounds of it) came back negative and the "physical" characteristics I described were in fact corrected following surgery.

It's easy to mistake an old post for a new one in the Syndrome forum because there isn't that much activity. In a more active forum an old thread like that would have been buried a long time ago. :giggle