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Filippi syndrome
rareFilippi 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.
- Identifiers
- MONDO:0010092 OMIM:272440Orphanet:3255
- Causal genes
- CKAP2L
- Part of
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityPolydactyly-syndactyly-triphalangism
- Also known as
- FLPIS · Scott craniodigital syndrome with mental retardation · syndactyly type I with microcephaly and intellectual disability · syndactyly type I with microcephaly and mental retardation · syndactyly, type I, with microcephaly and mental retardation
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