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National Organization for Rare Disorders, Inc.
- deafness-myopia-cataract-saddle nose, Marshall type
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.
Children's Craniofacial Association
13140 Coit Road
Dallas, TX 75240
Let's Face It
School of Dentistry / Dentistry Library
1011 N. University
Concord, MA 01742
American Society for Deaf Children
800 Florida Avenue NE
Washington, DC 20002-3695
NIH/National Eye Institute
31 Center Dr
Bethesda, MD 20892-2510
National Foundation for Facial Reconstruction
333 East 30th Street, Lobby Unit
New York, NY 10016
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
American Academy of Audiology
11730 Plaza America Drive, Suite 300
Reston, VA 20190
European Skeletal Dysplasia Network
Wellcome Trust Centre for Cell-Matrix Research
Faculty of Life Sciences
University of Manchester
Michael Smith Building, Oxford Road
Manchester, M13 9PT
Tel: 44 161 275 5642
Fax: 44 161 275 5082
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, 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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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 email@example.com
Last Updated: 1/19/2012
Copyright 1992, 1999, 2007, 2009, 2012 National Organization for Rare Disorders, Inc.