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Genetic and Rare Diseases Information Center (GARD)

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Reynolds syndrome


Other Names for this Disease

  • Primary biliary cirrhosis, scleroderma, Raynaud disease, and telangiectasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Reynolds syndrome is a condition characterized by scleroderma with primary biliary cirrhosis. Scleroderma is mainly limited to CREST syndrome, which includes calcinosis cutis (calcium deposits in the skin), Raynaud's phenomenon, esophageal dysfunction (acid reflux and decrease in motility in the esophagus), sclerodactyly, and telangiectasis. Diffuse scleroderma, or scleroderma that affects blood vessels, internal organs, and the skin, has also been reported.[1] Although generally considered an autoimmune disorder, other causes have been suggested, including genetics.[2][3] Reynolds syndrome may be caused by mutations in the LBR gene and inherited in an autosomal dominant fashion.[4]
Last updated: 7/25/2011

References

  1. Reynolds syndrome. Orphanet. April 2003; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=779. Accessed 7/25/2011.
  2. Cabane J.. Is Reynolds syndrome a genetic laminopathy?. Gastroenterol Clin Biol. 2010; http://www.ncbi.nlm.nih.gov/pubmed/20800400. Accessed 7/25/2011.
  3. Gaudy-Marqueste C, Roll P, Esteves-Vieira V et al. LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome. J Med Genet. 2010; http://www.ncbi.nlm.nih.gov/pubmed/20522425. Accessed 7/25/2011.
  4. Reynolds Syndrome. Online Mendelian Inheritance of Man (OMIM). July 2010; http://omim.org/entry/613471. Accessed 7/25/2011.
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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 Reynolds syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Primary biliary cirrhosis, scleroderma, Raynaud disease, and telangiectasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.