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Filippi syndrome

MONDO:0010092

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.

Also known as: Filippi syndrome, type 1 syndactyly-microcephaly-intellectual disability syndrome, FILIPPI syndrome, FLPIS, Scott craniodigital syndrome with intellectual disability, Scott craniodigital syndrome with mental retardation, syndactyly type I with microcephaly and intellectual disability, syndactyly type I with microcephaly and mental retardation

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