/Filippi syndrome

Filippi syndrome

Rare Disease

MONDO:0010092

Also Known As

Filippi syndrometype 1 syndactyly-microcephaly-intellectual disability syndromeFILIPPI syndromeFLPISScott craniodigital syndrome with intellectual disabilityScott craniodigital syndrome with mental retardationsyndactyly type I with microcephaly and intellectual disabilitysyndactyly type I with microcephaly and mental retardationsyndactyly, type I, with microcephaly and intellectual disabilitysyndactyly, type I, with microcephaly and mental retardationunusual facial appearance, microcephaly, growth and intellectual disability and syndactylyunusual facial appearance, microcephaly, growth and mental retardation and syndactyly

Definition

Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.