Muenke or Crouzon Syndrome

[Christina's_Mommy]

Christina's doc told us on July 9th that she may have either Muenke Syndrome or Crouzon Syndrome.
1. What are the similarities and differences of the two? There isn't much online about Muenke. btw, the doc doubts that she has Crouzon but it is possible.
2. I'm also wondering what the chances are of a 2nd child getting craniosynostosis. I heard from my aunt recently that she thought that my mother may have had it when she was little.
3. Would the genetic testing that gets done prior to surgery answer if it came from her?

Full of questions :)
Carol

[Jacksmum3]

Hi I have put a link up for Muenke syndrome under the useful info in the syndromes bit. Take a look. It is written by my Genetasist from Oxford.
Hope it helps.

[Jacksmum3]

Ok it's called helpful links not usful info lol.

[mommysbudbud]

My son was tested 2 times for Crouzons and 2 times for Pfeiffer Syndrome. Genetic testing can still come back negative when in fact your child does have a syndrome. Just finding that little mutation can be tough.
In cases with Crouzons, 65% of the cases are detectable and in Pfeiffer Syndrome, 50% of the cases are detectable. My son has the appearance of a child with mild Crouzons but it is believed that he has mild Pfeiffers Syndrome.
Little is known about Muenke Syndrome. I do know that Muenke Syndrome is like a mild Crouzons. That its not from the same mutation at Crouzons. Coronal synostosis is the most common synostosis for this syndrome. The midface is flat but not recessed.
Hope that helps. Dawn (Mom to Cole, Crouzon-Pfeiffer Syndrome, CVR-FOA, FA 2-06)

[mayashekhina]

Yep unfortunately though the technology of today is great and is getting better and better it unfortunately doesnt pick up every syndrome and sadly many families though having a child so obviously requiring extra medical and/ or developmental assistance remain in the dark as to why.