Filippi syndrome
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
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