Cockayne syndrome

Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.

Abnormality of DNA repair

An abnormality of the process of DNA repair, that is, of the process of restoring DNA after damage.


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PMID (PMCID)
19496505
 MIXED_SAMPLE Infant, Newborn
Blepharokeratoconjunctivitis in Cockayne syndrome.
Bhojwani R, Lloyd IC, Alam S, Ashworth J.
J Pediatr Ophthalmol Strabismus. 2009;46(3):184-5.
Cockayne syndrome is a multisystemic, autosomal recessive disease resulting from abnormalities of DNA repair.