Marshall Syndrome

Synonyms

• Deafness-Myopia-Cataract-Saddle Nose, Marshall Type

Disorder Subdivisions

• None

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.

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



Let's Face It

School of Dentistry / Dentistry Library

1011 N. University

Concord, MA 01742

USA

Tel: (360)676-7325

Email: faceit@umich.edu

Internet: http://www.dent.umich.edu/faceit



American Society for Deaf Children

800 Florida Avenue NE

2047

Washington, DC 20002-3695

Tel: (866)895-4206

Fax: (410)795-0965

Tel: (800)942-2732

TDD: (717)334-7922

Email: asdc@deafchildren.org

Internet: http://www.deafchildren.org



NIH/National Eye Institute

31 Center Dr

MSC 2510

Bethesda, MD 20892-2510

United States

Tel: (301)496-5248

Fax: (301)402-1065

Email: 2020@nei.nih.gov

Internet: http://www.nei.nih.gov/



National Foundation for Facial Reconstruction

333 East 30th Street, Lobby Unit

New York, NY 10016

Tel: (212)263-6656

Fax: (212)263-7534

Internet: http://www.nffr.org



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: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx

Internet: http://rarediseases.info.nih.gov/GARD



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



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

UK

Tel: 44 161 275 5642

Fax: 44 161 275 5082

Email: info@esdn.org

Internet: http://www.esdn.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:  1/29/2009

Copyright  1992, 1999, 2007, 2009 National Organization for Rare Disorders, Inc.