Cockayne Syndrome

Abstract

Cockayne syndrome is a rare autosomal recessive disease of complex clinical phenotype that usually presents in early childhood. Characteristically the child presents with delayed milestones, growth and mental retardation associated with typical facies, photosensitivity, retinitis pigmentosa, deafness and ataxia. The various features are attributed to abnormal transcription rather than abnormal repair of photodamaged DNA. Based on clinical criteria a classical case of Cockayne syndrome in a 7 year old girl is described.