Cockayne syndrome

(redirected from Neill-Dingwall 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