Strømme syndrome is a clinically variable disorder which was initially defined by the triad of apple peal intestinal atresia, ocular anomalies and microcephaly. However, the clinical presentation is variable and can lack the cardinal clinical signs. Therefore, the term CENPF-related disorder may be more appropriate. The phenotype can also include structural brain anomalies, genitourinary and cardiac anomalies, other clinical signs overlapping with ciliopathies as well as developmental delay and/or intellectual disability. Severity can vary from mid-gestation lethality, to a multisystem syndromic disorder to non-syndromic microcephaly. It is a rare disorder, the exact prevalence is unknown, only a limited number of individuals is reported in the literature. The inheritance is autosomal recessive.
CENPF