Treacher Collins Syndrome

Important
It is possible that the main title of the report Treacher Collins Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

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
Tel: (800)535-3643
Email: csmith@ccakids.com
Internet: http://www.ccakids.com

FACES: The National Craniofacial Association
P.O. Box 11082
Chattanooga, TN 37401
Tel: (423)266-1632
Fax: (423)267-3124
Tel: (800)332-2373
Email: faces@faces-cranio.org
Internet: 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
Tel: (800)393-3223
Email: info@forwardface.org
Internet: http://www.forwardface.org

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

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

American Society for Deaf Children
PO Box 3355
Gettysburg, PA 17325
Tel: (800)942-6084
Fax: (717)334-8808
Tel: (800)942-2732
TDD: (717)334-7922
Email: ASDC1@aol.com
Internet: 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
Email: info@acb.org
Internet: 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
Email: atresiamicrotia-subscribe@yahoogroups.com

NIH/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
Tel: (800)241-1044
TDD: (800)241-1105
Email: nidcdinfo@nidcd.nih.gov
Internet: http://www.nidcd.nih.gov

Craniofacial Foundation of America
975 East Third Street
Chattanooga, TN 37403
Tel: (423)778-9192
Fax: (423)778-8172
Tel: (800)418-3223
Email: farmertm@erlanger.org
Internet: 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
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Atresia/Microtia Online E-mail Support Group
Email: AtresiaMicrotia-owner@yahoogroups.com
Internet: 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
Tel: (877)735-2929
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

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

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 8/7/2007
Copyright 1989, 1990, 1992, 1996, 1998, 1999, 2000, 2007 National Organization for Rare Disorders, Inc.

Go to top of page

This information does not replace the advice of a doctor. Healthwise disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. How this information was developed to help you make better health decisions.