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Diseases

Genetic and Rare Diseases Information Center (GARD)

Marshall-Smith syndrome


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Overview

Marshall-Smith syndrome is a malformation syndrome characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation.[1][2] Less than 40 cases have been reported in the literature, mostly as single case reports or small series.[2] Early death is common due to respiratory complications.[3][4] The cause of this disease remains unknown, but its sporadic occurrence suggests a de novo (new) dominant mutation.[5] Aggressive management of the early respiratory and feeding problems may improve survival in individuals affected by this condition.[6][7] 
Last updated: 1/15/2010

References

  1. Marshall-Smith Syndrome. Online Mendelian Inheritance in Man (OMIM). 2006; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=602535. Accessed 1/15/2010.
  2. Travan L, Oretti C, Zennaro F, Demarini S. Am J Med Genet A. 2008; http://www.ncbi.nlm.nih.gov/pubmed/18627063. Accessed 1/15/2010.
  3. Watanabe Y, Tanaka Y, Umemura N, Koitabashi T. Masui. 2003; http://www.ncbi.nlm.nih.gov/pubmed/13677277. Accessed 1/15/2010.
  4. Babu D. What is Marshall-Smith Syndrome?. MSS Research Foundation. 2007; http://www.marshallsmith.org/content/view/1/2/lang,en/. Accessed 1/15/2010.
  5. Philip N. Marshall-Smith syndrome. Orphanet. 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=561. Accessed 1/15/2010.
  6. Deshpande C, Forrest M, Russell-Eggitt I, Hall CM, Mehta R, Paterson J. Clin Dysmorphol. 2006; http://www.ncbi.nlm.nih.gov/pubmed/16531739. Accessed 1/15/2010.
  7. Williams DK, Carlton DR, Green SH, Pearman K, Cole TR. J Med Genet. 1997; http://www.ncbi.nlm.nih.gov/pubmed/9350818. Accessed 1/15/2010.
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Basic Information

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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-Smith syndrome. Click on the link to view a sample search on this topic.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.