Filippi syndrome
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0800066
polydactyly-syndactyly-triphalangism
is_a
FLPIS
related
Filippi syndrome
exact
Scott craniodigital syndrome with mental retardation
related
syndactyly type I with microcephaly and intellectual disability
related
syndactyly type I with microcephaly and mental retardation
related
syndactyly, type I, with microcephaly and mental retardation
related
type 1 syndactyly-microcephaly-intellectual disability syndrome
exact
unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly
related
unusual facial appearance, microcephaly, growth and mental retardation and syndactyly
related