Cockayne Syndrome

**Definition:** A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.

**Tree numbers:** - C05.116.099.343.250 - C10.574.500.362 - C16.131.077.250 - C16.320.240.562 - C16.320.400.200 - C18.452.284.250

**Synonyms:** - Dwarfism-Retinal Atrophy-Deafness Syndrome - Progeria-Like Syndrome - Progeroid Nanism