Cockayne syndrome


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Cock·ayne syn·drome

(kok'ān), [MIM*216400 and MIM*216411]
dwarfism, precociously senile appearance, pigmentary degeneration of the retina, optic atrophy, deafness, sensitivity to sunlight, microcephaly, and mental retardation; autosomal recessive inheritance associated with defective excision repair of DNA. There are various complementation groups.
Synonym(s): Cockayne disease

Cockayne syndrome

(kŏ-kān′)
n.
An autosomal recessive condition characterized by short stature, microcephaly, photosensitivity, hearing loss, intellectual disability, and an appearance of premature aging.

Cockayne syndrome

An AR condition characterized by dwarfism, microcephaly, 'salt and pepper' choroidoretinitis, optic atrophy, cerebral calcifications, mental retardation, intention tremor, tottering gait, deafness, small trunk, long extremities, ↓ subcutaneous fat, sexual infantilism, hepatosplenomegaly, ASHD, early death. Cf Hutchinson-Gilford syndrome.

Cock·ayne syn·drome

(kok-ān' sin'drōm)
Dwarfism, precociously senile appearance, pigmentary degeneration of the retina, optic atrophy, deafness, sensitivity to sunlight, microcephaly, and mental retardation; autosomal recessive inheritance associated with defective excision repair of DNA. There are various complementation groups.

Cockayne,

Edward Alfred, English physician, 1880-1956.
Cockayne disease - Synonym(s): Cockayne syndrome
Cockayne syndrome - dwarfism, senile appearance, pigmentary degeneration of the retina, optic atrophy, deafness, sensitivity to sunlight, and mental retardation. Synonym(s): Cockayne disease
Weber-Cockayne syndrome - see under Weber, Frederick Parkes
References in periodicals archive ?
I'd learned about a consultant in America who specialised in Cockayne syndrome," says Jayne.
Today, Sarah is meeting with other parents of children with Cockayne syndrome from across the country.
NR Studied as a Treatment for Premature Aging in Cockayne Syndrome and Age Related Neurodegeneration -
I would say Cockayne Syndrome and they had not got a clue.
Cultured Cockayne syndrome cells are defective in transcriptioncoupled repair of oxidative DNA damage (19, 20).
Jodie and Sam Feist, from Margate in Kent, visited Wallasey to see Jayne Hughes, who founded the charity Amy & Friends to support families affected by Cockayne syndrome.
The 21-year-old suffers from Cockayne Syndrome which is characterised by growth failure, movement disorders and shortened life expectancy.
Jayne Hughes set up Amy and Friends after her daughter, Amy, was diagnosed with the debilitating premature ageing disorder Cockayne Syndrome (CS).
Cockayne Syndrome (CS) is a human genetic disorder with diverse clinical symptoms that include hypersensitivity to sunlight, severe mental and physical growth retardation, progressive neurological and retinal degeneration, and skeletal abnormalities.
Conditions include all childhood cancers, muscular dystrophy and Cockayne syndrome, characterised by poor growth and premature ageing.
He was born with a little known genetic condition called Cockayne Syndrome (type 2) which causes premature ageing.
Prof Winter said COFSS is related to another less severe condition, Cockayne Syndrome.