Cockayne syndrome


Cockayne syndrome
A genetic disorder characterized by dwarfism, prematurely aging, visual problems and deafness, sensitivity to sunlight, and mental retardation. The disease is due to a defect in the process of repairing RNA. Copying mistakes are frequent. In Cockayne syndrome, one of the enzymes that normally corrects copying errors in dividing cells called RNA polymerase II is defective. The children usually have poor growth before and after birth and are mentally retarded. Eye problems include retinal degeneration, optic nerve atrophy, sunken eyes, poor lid closure and drying of the cornea. The ears tend to be malformed with hearing loss. The head is abnormally small (microcephaly). The arms and legs are disproportionately long with large hands and feet and flexion contractures of joints. The children burn after even minimal sun exposure. They suffer steady deterioration of their neurons. Their abilities to hear, to see, even to feel or smell are progressively lost. Death is often from early atherosclerosis. The disease is inherited as an autosomal recessive trait. The gene, called CSA, is on chromosome 5. Parents with one CSA gene are normal. Each of their children stands a 1 in 4 (25%) risk of receiving two CSA genes, one from each parent, and of having Cockayne syndrome. There are several types of Cockayne syndrome. In Type I, the classic form of Cockayne syndrome, the boys and girls usually die in their teens. In Type II, which rarer and more severe, death usually occurs by age 6 or 7. The syndrome is named for Edward Alfred Cockayne (1880-1956), a London physician who concentrated on diseases of children, particularly hereditary diseases. His 'Inherited Abnormalities of the Skin and its Appendages,' published in 1933, was an extensive collation of family pedigrees from the literature. Cockayne reported the syndrome in 1946.

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Cock·ayne syndrome kä-'kān- n a rare disease that is inherited as an autosomal recessive trait, is marked esp. by growth and developmental failure, photosensitivity, and premature aging, and that is either present at birth or has an onset during infancy or childhood called also Cockayne's 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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Cock·ayne syndrome (kok-ānґ) [Edward Alfred Cockayne, English physician, 1880–1956] see under syndrome.

Medical dictionary. 2011.

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