Medical Dictionary

Cockayne syndrome

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noun Cock·ayne syndrome \kä-ˈkān-\
variants: also

Cockayne's syndrome

Medical Definition of Cockayne syndrome

  1. :  a rare disease that is marked especially by growth and developmental failure, photosensitivity, and premature aging, and that is either present at birth or has an onset during infancy or childhood Children with Cockayne syndrome … develop cataracts, deafness and muscle-wasting, and usually die of infections such as pneumonia before they reach their twenties.—New Scientist, 15 Mar. 2003 Cockayne syndrome is inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome. The affected genes code for proteins which play a role in the repair of damaged DNA.

Biographical Note for cockayne syndrome

Cockayne

,

Edward Alfred

(1880–1956), British physician. After service in Russia with the British Royal Navy during World War I, Cockayne became outpatient physician at Middlesex Hospital as well as at the Hospital for Sick Children, both in London. In 1934 he rose to the position of full professor at the Hospital for Sick Children and remained there for the rest of his career. His major interests were endocrinology and rare genetic diseases in children. In 1934 he published the monograph Inherited Abnormalities of the Skin and its Appendages, the first book to be exclusively concerned with genodermatoses. Cockayne syndrome was first described in 1936, in an article on a form of dwarfism marked by retinal atrophy and deafness.


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