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

Marshall Syndrome


Synonyms of Marshall Syndrome
  • Deafness-Myopia-Cataract-Saddle Nose, Marshall Type

Disorder Subdivisions



    General Discussion
    Marshall syndrome is a rare autosomal dominant genetic disorder caused by mutations in the COL11A1 gene. Major symptoms may include a distinctive face with a flattened nasal bridge and nostrils that are tilted upward, widely spaced eyes, nearsightedness, cataracts and hearing loss.

    Organizations related to Marshall Syndrome
    • 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
    • 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
    • European Skeletal Dysplasia Network (ESDN)
      Wellcome Trust Centre for Cell-Matrix Research
      Manchester None M13 9PT
      Phone #: 44 -161- 275 5642
      800 #: N/A
      e-mail: info@esdn.org
      Home page: http://www.esdn.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
    • 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 Foundation for Facial Reconstruction
      317 East 34th St.
      New York NY 10016
      Phone #: 212-263-6656
      800 #: 800-422-3223
      e-mail: whitney@nffr.org
      Home page: http://www.nffr.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