Parents

Individuals with disease-causing variants in CENPF can present with the classical triad of intestinal atresia, eye anomalies and a small head circumference which corresponds to Strømme syndrome. They can also present with only part of these anomalies, or additional other organ anomalies of the brain, heart and genitourinary tract. The overall severity can vary a lot, from severe organ anomalies that are detected during pregnancy to isolated microcephaly with mild developmental delay manifesting in childhood. The name CENPF-related disorder therefore seems to be more appropriate in order to account for the entire disease spectrum. It is a rare condition and not many patients are described yet. The condition is autosomal recessive which means that it is caused by two disease–causing variants, one in each of the two copies of the CENPF-gene. Mostly, each parent is a healthy carrier of one variant, and the recurrence risk for a future child is 25%.