This website provides information on patients with mutations in the CENPF gene, including clinical data, molecular data, management and research options.

The Strømme syndrome/CENPF-related disorder caused by mutations in the CENPF gene is a multisystem disorder characterized by
•    Small bowel intestinal atresia (particularly apple peel intestinal atresia)
•    Ocular anomalies (including anterior segment anomalies and microphthalmia)
•    Developmental delay and/or intellectual disability
•    Microcephaly
•    Genitourinary anomalies

Not all individuals with a mutation in the CENPF gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the CENPF gene.

Isabel Filges, Prof. MD, PhD, Medical Genetics, Institute of Medical Genetics and Pathology, Department Theragnostics, Department Clinical Research, University Hospital of Basel and University of Basel, Basel, Switzerland, Isabel.filges@usb.ch