Cockayne syndrome (CS) is a rare autosomal recessive disease. It is mainly caused by pathogenic variants in the ERCC6 and ERCC8 genes, which cause CSB and CSA types respectively. The variants lead to transcription-coupled nucleotide excision repair defects, causing multi-system damages including growth retardation, intellectual and motor developmental disorder, premature aging, malnutrition, photosensitivity, neurodegenerative diseases, retinitis pigmentosa, liver damage, and bone disorders. In recent years, with the development of molecular biology and genomic technologies, the pathological mechanisms of Cockayne syndrome have gradually become clear. A significant progress has also been made in diagnosis and treatment strategies.