Important
It is possible that the main title of the report Treacher Collins Syndromeis not the name you expected.

Synonyms

• Treacher Collins-Franceschetti Syndrome 1
• Mandibulofacial Dysostosis
• MFD1
• TCOF1
• Franceschetti-Zwalen-Klein Syndrome
• TCS

Disorder Subdivisions

• None

General Discussion

Treacher Collins syndrome is a rare genetic disorder characterized by distinctive abnormalities of the craniofacial area due to underdevelopment (hypoplasia) of certain bones of the head including the cheekbones and nearby structures (zygomatic complex and the jaw. The specific symptoms and physical characteristics associated with Treacher Collins syndrome may vary greatly from case to case. Craniofacial abnormalities tend to involve the cheekbones, jaws, mouth, ears, and/or eyes. In addition to the various facial abnormalities, affected individuals may have malformations of the external ears and middle ear structures and eye (ocular) abnormalities including an abnormal downward slant to the opening between the upper and lower eyelids (palpebral fissures). Affected individuals may develop hearing loss and breathing (respiratory) difficulties. In some cases, affected individuals may have mild symptoms and may go undiagnosed. In approximately 40 percent of cases, Treacher Collins syndrome has autosomal dominant inheritance. However, in about 60 percent of cases, a positive family history is not found. These cases likely represent new genetic changes (mutations) that occur randomly, with no apparent cause (sporadic).

Resources

Children's Craniofacial Association
13140 Coit Road
Suite 517
Dallas
TX
75240
USA
Tel: (214)570-9099
Fax: (214)570-8811
800: (800)535-3643
csmith@ccakids.com
http://www.ccakids.com

FACES: The National Craniofacial Association
P.O. Box 11082
Chattanooga
TN
37401
Tel: (423)266-1632
Fax: (423)267-3124
800: (800)332-2373
faces@faces-cranio.org
http://www.faces-cranio.org

Forward Face, Inc.
317 East 34th Street
Room 901
New York
NY
10016
Tel: (212)684-5860
Fax: (212)684-5864
800: (800)393-3223
info@forwardface.org
http://www.forwardface.org

Let's Face It (USA)
P.O. Box 29972
Bellingham
WA
98228-1972
USA
Tel: (360)676-7325
faceit@umich.edu
http://www.dent.umich.edu/faceit

AmeriFace
PO Box 751112
Las Vegas
NV
89136
USA
Tel: (702)769-9264
Fax: (702)341-5351
800: (888)486-1209
info@ameriface.org
http://www.ameriface.org

American Society for Deaf Children
PO Box 3355
Gettysburg
PA
17325
Tel: (800)942-6084
Fax: (717)334-8808
800: (800)942-2732
TDD: (717)334-7922
ASDC1@aol.com
http://www.deafchildren.org

Council of Families with Visual Impairment
1155 15th St. NW
Suite 1004
Washington
DC
20005
Tel: (202)465-5081
Fax: (202)465-5085
info@acb.org
http://www.acb.org/

Ear Anomalies Reconstructed: Atresia/Microtia Support Group
72 Durand Road
Maplewood
NJ
07040
USA
Tel: (973)761-5438
Fax: (973)378-8930
atresiamicrotia-subscribe@yahoogroups.comNIH/Nat'l Institute on Deafness & Other Communication Disorders Information Clearinghouse
1 Communication Ave
Bethesda
MD
20892-3456
Tel: (301)402-0900
Fax: (301)907-8830
800: (800)241-1044
TDD: (800)241-1105
nidcdinfo@nidcd.nih.gov
http://www.nidcd.nih.gov

Craniofacial Foundation of America
975 East Third Street
Chattanooga
TN
37403
Tel: (423)778-9192
Fax: (423)778-8172
800: (800)418-3223
farmertm@erlanger.org
http://www.craniofacialcenter.com

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

Atresia/Microtia Online E-mail Support Group
AtresiaMicrotia-owner@yahoogroups.com
http://health.groups.yahoo.com/group/AtresiaMicrotia

Let Them Hear Foundation
1900 University Ave #101
East Palo Alto
CA
94303
Tel: (650)462-3143
Fax: (650)462-3143
800: (877)735-2929
info@letthemhear.org
http://www.letthemhear.org

American Academy of Audiology
11730 Plaza America
#300
Reston
VA
20190
Tel: (703)790-8466
Fax: (703)790-8631
800: (800)222-2336
info@audiology.org
http://www.audiology.org