Diagnosis is typically achieved by observation of symptoms; however, genetic testing provides a full confirmation. The microcephaly, intestinal atresia and some of the eye abnormalities are observable on prenatal ultrasound. Brain MRI scans can reveal any brain anomalies that could be associated with the syndrome. Methods of genetic detection include whole exome sequencing and panel testing, which involves sequencing a selection of potential genes involved. Sanger sequencing can confirm the nature of the mutation. Once a family has been identified as being carriers for mutated CENPF genes, prenatal diagnosis and preimplantation genetic diagnosis can be offered for future conceptions.
Strømme syndrome
Melkersson–Rosenthal syndrome
Helsmoortel-Van der Aa syndrome
Van Wyk and Grumbach syndrome
Sensenbrenner syndrome
Van der Woude syndrome
Nezelof syndrome
Senter syndrome