Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Treacher Collins Syndrome


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

Disorder Subdivisions



    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).

    Organizations related to Treacher Collins Syndrome
    • AmeriFace
      PO Box 751112
      Las Vegas NV 89136
      Phone #: 702-769-9264
      800 #: 888-486-1209
      e-mail: info@ameriface.org
      Home page: http://www.ameriface.org
    • American Academy of Audiology
      11730 Plaza America
      Reston VA 20190
      Phone #: 703-790-8466
      800 #: 800-222-2336
      e-mail: info@audiology.org
      Home page: http://www.audiology.org
    • American Society for Deaf Children
      PO Box 3355
      Gettysburg PA 17325
      Phone #: 800-942-6084
      800 #: 800-942-2732
      e-mail: ASDC1@aol.com
      Home page: http://www.deafchildren.org
    • Atresia/Microtia Online E-mail Support Group
      None
      None None None
      Phone #: N/A
      800 #: N/A
      e-mail: AtresiaMicrotia-owner@yahoogroups.com
      Home page: http://health.groups.yahoo.com/group/AtresiaMicrotia
    • 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/
    • Craniofacial Foundation of America
      975 East Third Street
      Chattanooga TN 37403
      Phone #: 423-778-9192
      800 #: 800-418-3223
      e-mail: farmertm@erlanger.org
      Home page: http://www.craniofacialcenter.com
    • Ear Anomalies Reconstructed: Atresia/Microtia Support Group
      72 Durand Road
      Maplewood NJ 07040
      Phone #: 973-761-5438
      800 #: --
      e-mail: atresiamicrotia-subscribe@yahoogroups.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
    • 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
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • 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



    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