Treacher Collins Syndrome

National Organization for Rare Disorders, Inc.

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: contactCCA@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
Suite 901A
New York, NY 10016
Tel: (212)684-5860
Fax: (212)684-5864
Tel: (800)393-3223
Email: camille@forwardface.org
Internet: http://www.forwardface.org

Let's Face It
University of Michigan
School of Dentistry / Dentistry Library
1011 N. University
Ann Arbor, MI 48109-1078
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

American Council of the Blind
2200 Wilson Boulevard, Suite 650
Arlington, VA 22201
Tel: (202)467-5081
Fax: (202)465-5085
Tel: (800)424-8666
Email: mailman@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)778-9176
Fax: (423)778-8172
Tel: (800)418-3223
Email: terry.smyth@erlanger.org
Internet: http://www.craniofacialfoundation.org/www

MUMS 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/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

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

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Tel: (650)462-3143
Fax: (650)462-3144
Tel: (877)735-2929
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

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

For a Complete Report

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

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