National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Marshall syndrome

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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?
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

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  1. 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.
  2. 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.
  3. 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.
  4. McKusick VA, O'Neill MJF. Marshall syndrome. Online Mendelian Inheritance in Man. 2007; http://omim.org/entry/154780. Accessed 7/12/2012.
  5. 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.