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Marshall-Smith syndrome

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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


  1. Marshall-Smith Syndrome. Online Mendelian Inheritance in Man (OMIM). 2006; Accessed 1/15/2010.
  2. Travan L, Oretti C, Zennaro F, Demarini S. Am J Med Genet A. 2008; Accessed 1/15/2010.
  3. Watanabe Y, Tanaka Y, Umemura N, Koitabashi T. Masui. 2003; Accessed 1/15/2010.
  4. Babu D. What is Marshall-Smith Syndrome?. MSS Research Foundation. 2007;,en/. Accessed 1/15/2010.
  5. Philip N. Marshall-Smith syndrome. Orphanet. 2006; Accessed 1/15/2010.
  6. Deshpande C, Forrest M, Russell-Eggitt I, Hall CM, Mehta R, Paterson J. Clin Dysmorphol. 2006; Accessed 1/15/2010.
  7. Williams DK, Carlton DR, Green SH, Pearman K, Cole TR. J Med Genet. 1997; Accessed 1/15/2010.
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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 an 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.