Cockayne syndrome

(redirected from Cockayne's syndrome)

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
Farlex Partner Medical Dictionary © Farlex 2012

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.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

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.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

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.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

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
Medical Eponyms © Farlex 2012
References in periodicals archive ?
The differential diagnosis of XP should be performed with two other syndromes caused by mutations of excision repair pathway genes: Cockayne's syndrome (CS) and Trichothiodystrophy (TTD).
Cockayne's syndrome may create confusion but pangeria is distinguished by loss and greying of hair, the lack of photosensitivity and ocular changes and the absence of disproportionately large extremities.1,3
Unlike most other "accelerated aging diseases" (such as Werner's syndrome, Cockayne's syndrome, or xeroderma pigmentosum), progeria is not caused by defective DNA repair.
The reported findings included homozygous changes to the ERCC6 gene, a gene associated with Cockayne's syndrome, a rare autosomal recessive syndrome that is usually fatal in childhood.
Now, just back from Boston, she has been told she could receive a drug expected to become available early next year and which could halt the progress of the debilitating Cockayne's syndrome.
Instead, the family raised the money to take her to the US where specialists at Boston children's hospital diagnosed a rare type of Cockayne's syndrome.
But specialists in the US said she has a rare type of Cockayne's syndrome.
LMA has been used in patients with various pediatric syndromes, including craniodiaphyseal dysplasia, the mucopolysaccharidoses, Freeman-Sheldon syndrome, Hurler's syndrome, and Cockayne's syndrome. (12-16) In such cases, a weight-appropriate LMA is inserted after an adequate depth of anesthesia, without any paralytic agents, has been achieved.
Keywords: age-related disease, Cockayne's syndrome, Hutchinson-Gilford progeria, premature ageing syndromes, senescence-accelerated mouse, Werner's syndrome
Often referred to as `segmental progeroid syndromes' [2], the most widely studied of these are Hutchinson-Gilford progeria, Werner's syndrome and Cockayne's syndrome, but the group also includes Bloom's syndrome, ataxia telangiectasia and Down's syndrome.
Cockayne's syndrome (Figure 2) is a rare autosomal recessive disorder [18] which usually becomes apparent around the second year of life (although onset in the first few months after birth has been described [19]) and was first described in 1936.
Instead, the family raised the money to take her to America where specialists say she has a rare type of Cockayne's syndrome.