FG syndrome's major clinical features include intellectual disability, usually severe; hyperactive behavior, often with an outgoing personality; severe constipation, with or without structural anomalies in the anus such as imperforate anus; macrocephaly; severe hypotonia; a characteristic facial appearance due to hypotonia, giving a droopy, " open-mouthed " expression, a thin upper lip, a full or pouting lower lip, and partial or complete loss of the corpus callosum.
12.
Other entities associated with an imperforate anus are trisomies 18 and 21, the cat-eye syndrome ( partial trisomy or tetrasomy of a maternally derived number 22 chromosome ), Baller-Gerold syndrome, Currarino syndrome, caudal regression syndrome, FG syndrome, Johanson-Blizzard syndrome, McKusick-Kaufman syndrome, Pallister-Hall syndrome, short rib-polydactyly syndrome type 1, Townes-Brocks syndrome, 13q deletion syndrome, urorectal septum malformation sequence, and the OEIS complex ( omphalocele, exstrophy of the cloaca, imperforate anus, spinal defects ).
13.
Other entities associated with an imperforate anus are trisomies 18 and 21, the cat-eye syndrome ( partial trisomy or tetrasomy of a maternally derived number 22 chromosome ), Baller-Gerold syndrome, Currarino syndrome, caudal regression syndrome, FG syndrome, Johanson-Blizzard syndrome, McKusick-Kaufman syndrome, Pallister-Hall syndrome, short rib-polydactyly syndrome type 1, Townes-Brocks syndrome, 13q deletion syndrome, urorectal septum malformation sequence, and the OEIS complex ( omphalocele, exstrophy of the cloaca, imperforate anus, spinal defects ).
