Chudley-McCullough syndrome

Orpha code: 314597OMIM code: 604213

Definition

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.

Disease data
Classification

Malformation syndrome

ORPHA code
314597
OMIM code
604213
ICD10 code
-
ICD11 code
-

No additional description.

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