Filippi syndrome

Filippi syndrome (also known as syndactyly type I with microcephaly and intellectual disability, or craniodigital syndrome of Filippi) is an extremely rare genetic disorder characterized by the combination of microcephaly (abnormally small head), cutaneous syndactyly (webbing of the fingers and/or toes), intellectual disability, short stature, and distinctive facial features. The condition was first described by Italian geneticist Giancarlo Filippi in 1985. The syndrome affects multiple body systems. Craniofacial features typically include a broad nasal bridge, thin nostrils, a high forehead, and micrognathia (small jaw). Syndactyly most commonly involves the third and fourth fingers and the second and third toes. Growth retardation is present from birth, and affected individuals typically have significant intellectual disability with delayed speech and motor development. Additional features may include sparse hair, teeth abnormalities, cryptorchidism in males, and seizures in some cases. Filippi syndrome has been associated with mutations in the CKAP2L gene (also known as Radmis), which encodes a protein involved in mitotic spindle function and cell division. Only a small number of cases have been reported in the medical literature worldwide. There is currently no specific cure or targeted therapy for Filippi syndrome. Management is supportive and symptomatic, involving multidisciplinary care including surgical correction of syndactyly when indicated, developmental and educational support, speech therapy, and monitoring for seizures and other complications.

Common questions about Filippi syndrome