Chudley-McCullough syndrome

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Chudley-McCullough syndrome is a rare genetic syndromic deafness characterized by severe to profound bilateral sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus varying degrees of partial corpus callosum agenesis colpocephaly cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria bilateral frontal subcortical heteropia) and in some arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version May 2024

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Chudley-McCullough syndrome?

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