[Research progress of genetic study on Filippi syndrome]

Filippi syndrome is a rare autosomal recessive genetic disorder characterized primarily by syndactyly, microcephaly, distinctive facial features, and intellectual disability. It may also involve multiple systemic manifestations including growth retardation, language disorders, visual impairment, cryptorchidism, abnormal dental and skeletal development, and so forth. The pathogenic gene associated with Filippi syndrome has been identified as CKAP2L, which encodes a mitotic spindle protein localized in the spindle, centrosome, and neural progenitor cells. Deficiency of CKAP2L may disrupt the division of neural progenitor cells, resulting in reduced neuronal numbers. Additionally, it may also affect cell division, tissue formation, and apoptosis of interphalangeal space cells during fetal development, thereby contributing to the classic phenotypes of Filippi syndrome. This article has provided a comprehensive review for the genetic underpinnings of Filippi syndrome and its correlation with clinical phenotypes, which may offer insights for further research and clinical diagnosis.