Cockayne syndrome

(redirected from Cockayne disease)

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 ?
Florid intracranial calcification in children is caused by birth anoxia, Cockayne disease, tuberous sclerosis, or infections such as toxoplasmosis or cytomegalovirus.
Its first product for Cockayne disease, a rare genetic disease in which children suffer from accelerated ageing while developing severe ageing diseases, is in late stage preclinical development.