Marshall-Smith syndrome

Definition:

Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. The majority of reported cases died in infancy or early childhood commonly from respiratory compromise. A study demonstrates that NFIX haploinsufficiency is responsible for MSS.

References:

[1]. Adam C Shaw, et al. Phenotype and natural history in Marshall-Smith syndrome. Am J Med Genet A. 2010 Nov;152A(11):2714-26. [Content Brief]

[2]. Margaret P Adam, et al. Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. Am J Med Genet A. 2005 Aug 30;137(2):117-24. [Content Brief]

[3]. R E Marshall, et al. Syndrome of accelerated skeletal maturation and relative failure to thrive: a newly recognized clinical growth disorder. J Pediatr. 1971 Jan;78(1):95-101. [Content Brief]

[4]. Valérie Malan, et al. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet. 2010 Aug 13;87(2):189-98. [Content Brief]

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