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 ?
Increased cell death likely contributes to features of Cockayne syndrome such as growth failure and premature aging.
The FDA provided greater clarity on the requirements needed to file an IND to initiate a Phase I/II clinical trial in patients with Cockayne Syndrome.
Hayashi, "Melatonin alterations and brain acetylcholine lesions in sleep disorders in Cockayne syndrome," Brain and Development, vol.
Lillie-Mae Chipping from Chester Le Street, who suffers from Cockayne Syndrome, with her mother Sarah
The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.
Amy suffers from Cockayne Syndrome Type Three which means her body is ageing at frightening speed.
Cultured Cockayne syndrome cells are defective in transcriptioncoupled repair of oxidative DNA damage (19, 20).
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.
Somatic cell mutation frequency at the HPRT, t-cell antigen receptor and glycophorin A loci in Cockayne syndrome.
Wirral based charity, Amy & Friends, is awarded PS75,000 to help with their work in supporting children with Cockayne Syndrome and their families.
Further tests revealed that he had problems with hearing and brain development, confirming their suspicion that Thomas has Cockayne Syndrome - a premature ageing disorder which means he is unlikely to live beyond the age of five.