Crouszon Syndrome

[DANA]

Anybody Have Any Information On Crouszon Syndrome (spelling??) The Genetics Dr. Thinks That Elizabeth May Have This. Thank

[Melissa]

Dana, this is what our surgeon had on his website about it:


Crouzon Syndrome: This syndrome commonly exhibits characteristics including bulging eyes secondary to shallow orbits, widely spaced eyes, a prominent forehead, visual disturbances, a small midface, variable hearing loss, and premature fusion of multiple skull sutures. Crouzon’s syndrome is an autosomal dominant disorder with variable expression. Treatment for the syndrome traditionally stages surgery, with the initial cranial reconstruction typically taking place at less than one year of age.

I think it's pretty similar to the Pfeiffer Syndrome that my son has...

[Katie]

Here's one link on it Dana, it appears to be a lot like Pfieffer and Apert:

http://www.kidsplastsurg.com/crouzon.html

[DANA]

Thanks for the info. Its weird because Elizabeth does not have any of the symptoms. No bulging eye, wide space eyes or prominent forehead. Of course she does have the fusions. And I suppose she does have shallow sockets but I never really thought is was noticeable. I still look at her and think she looks "normal". I mean I do see around her eyes the indentions when she cries but I would have never picked up anything had our pediatrican not noticed that her soft spot was gone.

Oh well... we are moving along only two more weeks till surgery.

love you guys, thanks again

[frankiesmom]

Hi

Elizabeth is adorable! When is her surgery and what are they doing then?
You may have stated it before but I've been off for a while.

[4myboys]

When I saw her pic I thought that might come up only because she looks so much like Remy and our DR wants genetic testing for Crouzons as well. He said it was because his eyes are large and the shape of his forehead does not fit the craniosyostosis. I have since ran into a neonatal NP who asked out of the blue if he has Crouzons. It is hard getting that info when you are just wrapping your head around the other. I have read that it occurs 5% of the time in addition to craniosynostosis. If I find any more info I will let you know. Did you set up the genetics appt yet? We go 1/11. Take care and she is just adorable.

[4myboys]

I have some links that might be helpful. Some pertain and hopefully some do not for either one of us. :)

http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Crouzon+Syndrome


AboutFace USA
PO Box 158
South Beloit IL 61080
Phone #: --
800 #: 888-486-1209
e-mail: info@AboutFaceUSA.org
Home page: http://www.aboutfaceusa.org (http://www.aboutfaceusa.org/)
Alexander Graham Bell Association for the Deaf, Inc.
3417 Volta Place, NW
Washington D.C. 20007-2778
Phone #: 202-337-5220
800 #: 866-337-5220
e-mail: info@agbell.org
Home page: http://www.agbell.org (http://www.agbell.org/)
Children's Craniofacial Association
13140 Coit Road
Dallas TX 75240
Phone #: 214-570-9099
800 #: 800-535-3643
e-mail: csmith@ccakids.com
Home page: http://www.ccakids.com (http://www.ccakids.com/)
Council of Families with Visual Impairment
1155 15th St. NW
Washington DC 20005
Phone #: 202-465-5081
800 #: --
e-mail: info@acb.org
Home page: http://www.acb.org/ (http://www.acb.org/)
Crouzon Support Network
P.O. Box 1272
Edmonds WA 98020
Phone #: 425-672-1697
800 #: --
e-mail: crouzons-owner@yahoogroups.com
Home page: http://www.crouzon.org (http://www.crouzon.org/)
Crouzon's/Meniere's Support Network
3757 North Catherine Drive
Prescott Valley AZ 86314-8320
Phone #: --
800 #: --
e-mail: katy@northlink.com
Home page: N/A
FACES: The National Craniofacial Association
P.O. Box 11082
Chattanooga TN 37401
Phone #: 423-266-1632
800 #: 800-332-2373
e-mail: faces@faces-cranio.org
Home page: http://www.faces-cranio.org (http://www.faces-cranio.org/)
Forward Face, Inc.
317 East 34th Street
New York NY 10016
Phone #: 212-684-5860
800 #: 800-393-3223
e-mail: info@forwardface.org
Home page: http://www.forwardface.org (http://www.forwardface.org/)
Headlines - Craniofacial Support
128 Beesmoor Road
Bristol Intl BS36 2JP
Phone #: 44--014-54-850557
800 #: N/A
e-mail: info@headlines.org.uk
Home page: http://www.headlines.org.uk (http://www.headlines.org.uk/)
Let Them Hear Foundation
1900 University Ave #101
East Palo Alto CA 94303
Phone #: 650-462-3143
800 #: 877-735-2929
e-mail: info@letthemhear.org
Home page: http://www.letthemhear.org (http://www.letthemhear.org/)
Let's Face It (USA)
P.O. Box 29972
Bellingham WA 98228-1972
Phone #: 360-676-7325
800 #: --
e-mail: faceit@umich.edu
Home page: http://www.dent.umich.edu/faceit (http://www.dent.umich.edu/faceit)
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com (http://www.marchofdimes.com/)
NIH/Nat'l Institute on Deafness & Other Communication Disorders Information Clearinghouse
1 Communication Ave
Bethesda MD 20892-3456
Phone #: 301-402-0900
800 #: 800-241-1044
e-mail: nidcdinfo@nidcd.nih.gov
Home page: http://www.nidcd.nih.gov (http://www.nidcd.nih.gov/)
NIH/National Eye Institute
Building 31 Rm 6A32
Bethesda MD 20892-2510
Phone #: 301-496-5248
800 #: --
e-mail: 2020@nei.nih.gov
Home page: http://www.nei.nih.gov/ (http://www.nei.nih.gov/)
National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown MA 02472
Phone #: 617-972-7441
800 #: 800-562-6265
e-mail: napvi@perkins.org
Home page: http://www.napvi.org (http://www.napvi.org/)
National Craniofacial Foundation
3100 Carlisle Street
Dallas TX 75204
Phone #: --
800 #: 800-535-3643
e-mail: N/A
Home page: N/A
Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K None 1220
Phone #: 45 -33 -14 00 10
800 #: N/A
e-mail: mail@sjaeldnediagnoser
Home page: http://www.raredisorders.dk (http://www.raredisorders.dk/)
Society for the Rehabilitation of the Facially Disfigured, Inc.
550 First Avenue
New York NY 10016
Phone #: 212-340-5400
800 #: --
e-mail: N/A
Home page: N/A
The Arc (a national organization on mental retardation)
1010 Wayne Ave
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/ (http://www.thearc.org/)

[DANA]

My goddness thanks for all the information.

I do agree that Elizabeth and Remy have some of the same facial features. Especially the wide eye look. She kinda looks surprised alot. But we just thought "Oh how cute" you know?

I did have my genetics appt. Sorry I dont think I ever mentioned that. They said she probably had a genetic mutation because never my husband or I have had issues. He did also say that Crouzon is a dominant gene. Basically you only have to have one "bad" gene to have the disorder. Where as usually you need two, one from each parent. So her kids will each have a 50/50 chance of having some type of cranio issue, especially Crouzon. Make sense?

[4myboys]

So did they confirm that she had it for sure? My plastic surgeon now says Remy may not as he only has his saggital suture fused. He said it is still possible however more rare. He said we will know for sure after our genetics appt has the blood work done. Geez what a roller coaster ride. :) I kind of feel like whatever the outcome I am fine with - I am so grateful that we have all these resources and I know my baby will have a fabulous life no matter what. The only thing that bothers me is the 50/50 chance for his children as some of these children have serious issues but I think most do well.

I seriously think our babies could be brother and sister - too cute. And it's the same for us everyone just loves his eyes.

Sounds like you are doing well, take care.

[craniomommynbaby]

I copied the links on Crouzon's Syndrome into the sticky for links. I hope you don't mind. That was a very information-rich post.

[DANA]

I dont know how they confirm Crouzons, but the genetics Dr. seemed pretty sure she had it. She does have two fusions. Bicoronal and metopic. So I think it makes her a good candidate. They didnt draw any blood from her, only me. To rule out hemochromatosis which is too much iron in the blood. (runs in hubby family). Guess we will see soon.

PS what is a sticky link?

Thanks Dana

[Melissa]

Her pic kind of reminds me of Bryson's from when he was a baby, too...

http://i70.photobucket.com/albums/i119/mshooper2/Family%20and%20Friends%201/Bryson8daysold.jpg

[DANA]

Ok so our babies are too cute. Who would ever guess they needed extra help!!