Helpul Links

[Katie]

We can use this thread to share links with helpful syndrome information! If you have a link to share, please reply with it!


Here is a chart showing the frequency of the most common craniosynostosis syndromes, what gene they are located on, and what year they were first described. If you click on the number in the OMIM row, it will give you a brief history and description of the syndrome:

http://www-ermm.cbcu.cam.ac.uk/03005805h.htm

[KatieK]

Listing of craniosynostosis syndromes with accompanying signs and symptoms:
http://en.wikipedia.org/wiki/Craniosynostosis#Syndromes

[KatieK]

Article on Loeys-Dietz syndrome:
http://www.hhmi.org/news/dietz20060824.html

LDS often involves craniosynostosis, along with widely-spaced eyes and either a split uvula, broad-based uvula, or cleft palate. Other symptoms may include joint laxity, long fingers, or bluish-gray sclerae (whites of the eyes).

This syndrome carries risk for aortic root enlargement, aneurysm formation, and artery rupture. Establishing this diagnosis with genetic testing is very important, since early treatment with vascular surgery can be life-saving.

[Katie]

Thank you for that article on LDS, that is a syndrome I had not heard of before!

[craniomommynbaby]

4MyBoys posted these links in another thread on Crouzon's Syndrome.

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/r...ouzon+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

* 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

* 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

* 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/

* 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

* 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

* 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

* 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

* 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

* 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

* 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

* 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

* 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/

* 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

* 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

* 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/

[Lori]

So glad I found this! Here is a site that helped me...

University Health System-San Antonio TX.
Cranio, Sagittal, Coronal, Metopic, and Lambdoidal
http://www.craniosynostosis.net/default.htm

[Jacksmum3]

HI I have a link that might be of use to some of you? www.headlines.org.uk/HL15%20Muenke%20Syndrome.pdf (http://www.headlines.org.uk/HL15%20Muenke%20Syndrome.pdf)