What is Chudley-McCullough syndrome?

Chudley-McCullough syndrome (CMS) is an autosomal recessive condition characterized by sensorineural hearing loss, near normal development, and a distinctive combination of brain malformations: partial agenesis of the corpus callosum, cerebellar dysplasia, frontal heterotopia, frontal polymicrogyria, and arachnoid cysts. Some patients develop hydrocephalus. It is important to diagnose CMS, since typically, patients with these types of brain malformations have very substantial developmental problems and seizures; therefore it is essential to diagnose CMS because the neurodevelopmental prognosis is quite good.