By Gary M. White, MD
Cockayne syndrome (CS) is an autosomal recessive disorder associated with abnormal UV hypersensitivity, growth retardation, and psycho-neural abnormalities, e.g. developmental delay, mental retardation, sensorineural hearing loss, microcephaly.
- Up to 3/4 of patients will develop a photosensitive rash, typically malar, but there is no increased risk in skin cancers.
- CS can result from mutations in either the ERCC6 or the ERCC8 gene (also known as the CSA and CSB genes respectively). These genes are involved in repairing damaged DNA.
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