Schinzel-Giedion midface retraction syndrome

Definition:

Schinzel-Giedion midface retraction syndrome is a rare congenital disorder characterized by severe mental retardation, midface retraction, cardiac and urogenital malformations, skeletal malformations, and neuroepithelial neoplasia. The disorder is lethal and respiratory failure is the major cause of death.

References:

[1]. Alexander Hoischen, et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet. 2010 Jun;42(6):483-5. [Content Brief]

[2]. Anna M Lehman, et al. Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria. Am J Med Genet A. 2008 May 15;146A(10):1299-306. [Content Brief]

[3]. P Labrune, et al. Three new cases of the Schinzel-Giedion syndrome and review of the literature. Am J Med Genet. 1994 Mar 1;50(1):90-3. [Content Brief]

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