Stromme syndrome

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.