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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My son has Marshall syndrome.  Years ago, they stated that life expectency was late teens to early twenties, but now I can't seem to find any such information.  Could you possibly clarify this?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is the average lifespan for an individual with Marshall syndrome?

There is limited information on the average lifespan for an individual with Marshall syndrome.  One article describes a family with many affected relatives in several generations and refers to individuals who have Marshall syndrome and are in their 30s and 40s.[1]  There are also specific reports of individuals who are suspected to have Marshall syndrome and are doing well at ages 29 and 35.[2][3] 

It appears from the medical literature that individuals with Marshall syndrome may have relatively normal life expectancy.[1]  The main features of Marshall syndrome are not expected to be life-threatening, though the severity of symptoms may vary among affected individuals.[4]  Only one article in the medical literature stated that lifespan may be shortened because of this condition; the authors suggested that respiratory problems related to Marshall syndrome may lead to a reduced lifespan.[5]  However, respiratory problems are currently not considered a feature of this disease and no other article mentions this concern.[4]
Last updated: 7/13/2012

References
  • Griffith AJ, Sprunger LK, Sirko-Osadsa DA, Tiller GE, Meisler MH, Warman ML. Marshall syndrome associated with a splicing defect at the COL11A1 locus. American Journal of Human Genetics. 1998; 62:816-823. http://www.ncbi.nlm.nih.gov/pubmed/9529347. Accessed 7/13/2012.
  • Ala-Kokko L, Shanske AL. Mosaicism in Marshall Syndrome. American Journal of Medical Genetics. Part A. 2009; 149A:1327-1330. http://www.ncbi.nlm.nih.gov/pubmed/19449424. Accessed 7/11/2012.
  • Shanske AL, Bogdanow A, Shprintzen RJ, Marion RW. The Marshall Syndrome: Report of a New Family and Review of the Literature. American Journal of Medical Genetics. 1997; 70:52-57. http://www.ncbi.nlm.nih.gov/pubmed/9129742. Accessed 7/11/2012.
  • McKusick VA, O'Neill MJF. Marshall syndrome. Online Mendelian Inheritance in Man. 2007; http://omim.org/entry/154780. Accessed 7/12/2012.
  • Fitch N. The syndromes of Marshall and Weaver. Journal of Medical Genetics. 1980; 17:174-178. http://www.ncbi.nlm.nih.gov/pubmed/7401127. Accessed 7/11/2012.
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.