general syndrome question

[ahope4us]

We just found out that my husband's cousin has a son who also had cranio. My question is-Are all genetic cases syndromes?
I've read that all coronal cases should be tested for Meunke so I guess we'll ask about that at our appt.
Danielle

[Katie]

I think all cases with a genetic link are considered syndromes, and I also believe that some syndromes can happen spontaniously with no known family history, but I may be mistaken. Although unlikely, it is possible for more than one person in a family to have craniosynostosis spontaniously without a genetic link. The problem is identifying exactly which syndrome a family may be prone to, as there are so many out there with similar feautres. Meunke, Saethre-Chotzen, Pfieffer (spelled that wrong I'm sure), and Crouzon (spelling again) are just four of the syndromes that can be associated with coronal craniosynostosis. Your pediatrician may refer you to a genetecist who will go in to a detailed family history and let you know weather or not he/she thinks there is a genetic link, and what syndrome it may possibly be. There are blood tests available for most of the syndromes, but they can be pricey if your insurance does not cover it, and unfortunately testing isn't a for sure answer. For example, roughly 1/3 of people who do have Saethre-Chotzen Syndrome would test negative for it because the mutation can be very hard to detect. Johns Hopkins University and Childrens Hospital of Philadelphia are said to have the leading genetic testing labs in the country.
I hope this helps a little bit, I'll try to find some more information for you.

[Jennifer]

katie...your so smart :adore!

[Katie]

katie...your so smart :adore!

I'd feel smarter if I could spell worth a darn :lol

Thank you Jen :adore

[ahope4us]

Thanks a bunch. Trey has Maine Medicaid so I'm not sure they would pay for all the genetic testing...maybe it's not even a major deal to find out, I'll let you know what the Dr thinks.
Danielle

[Melissa]

Bryson has Pfeiffer Syndrome, and I can tell you that the way it works with that particular syndrome is that, since neither my husband nor myself have Pfeiffer, Bryson's case was a new genetic mutation. To the best of the medical profession's knowledge, it does not skip generations or any such. Bryson, however, will have a 50% chance of passing the syndrome on to his own children, should he choose to have any. Also, our younger son will have no more of a chance of having a child born with Pfeiffer than any other person out there, because he does not have it himself. Hope that helps!

[Matthews Mommy]

Katie and Jen....:clap give a round of applause Katie I think you did spell that right!