Stromme syndrome

Definition:

Stromme syndrome is a rare multiple congenital malformation syndrome consisting in apple peel intestinal atresia, ocular anomalies, microcephaly, and developmental delay. It is an autosomal-recessive disease caused by mutations in CENPF that can result in a wide phenotypic spectrum. Although ocular anomalies and intestinal atresia seemed to be consistent features of the syndromic phenotype, phenotypic variabilities in the patients have been reported.

References:

[1]. Ferda Ozkinay, et al. A further family of Stromme syndrome carrying CENPF mutation. Am J Med Genet A. 2017 Jun;173(6):1668-1672. [Content Brief]

[2]. Isabel Filges, et al. Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Hum Mutat. 2016 Apr;37(4):359-63. [Content Brief]

[3]. Marco Castori, et al. Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome. Eur J Med Genet. 2010 May-Jun;53(3):149-52. [Content Brief]

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