Acrocallosal Syndrome

Abstract

Acrocallosal syndrome is characterized by polydactyly of the hands and feet in combination with brain abnormalities such as corpus callosum agenesis and Dandy–Walker malformation. Polydactyly of the hands is usually postaxial with an extra digit or pedunculated postminimus only. Cutaneous syndactyly of the 4th and 5th fingers and preaxial polydactyly of the feet are further characteristic features. Facial dysmorphic features include macrocephaly; large anterior fontanel; prominent forehead; hypertelorism; small, low-set, and malformed ears; short nose with a broad nasal bridge and anteverted nostrils; high arched palate; and open mouth with thick lips. Brain malformations are often cystic and may include cerebral atrophy, hypothalamic dysfunction, hypoplasia of the pons, abnormalities of the cerebellum, partial micropolygyria, partial pachygyria, and heterotopia.