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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Marshall syndrome


Other Names for this Disease

  • Deafness, myopia, cataract, saddle nose-Marshall type
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Overview

Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Those with Marshall syndrome can also have short stature. Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome; but this remains controversial.[1] Marshall syndrome is caused by mutations in the COL11A1 gene and is inherited in an autosomal dominant fashion.[2]
Last updated: 11/29/2011

References

  1. Stickler syndrome. Genetics Home Reference. July 2008 ; http://ghr.nlm.nih.gov/condition/stickler-syndrome. Accessed 11/29/2011.
  2. Marshall syndrome. Orphanet. March 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=560. Accessed 11/29/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Marshall syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Deafness, myopia, cataract, saddle nose-Marshall type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.