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 ?
Physical examination revealed height of 126 cm, weight of 25 kg, and characteristic findings of Cockayne syndrome including microcephaly, short stature, and xeroderma pigmentosum.
Xeroderma pigmentosum-Cockayne syndrome is a rare clinically overlapping genetic disorder characterized by somatic and neurological abnormalities of Cockayne syndrome and skin and eye manifestations of Xeroderma pigmentosum.7 In making the diagnosis for this patient, the clinical features were evidently indicative of Cockayne syndrome.
At 15 months, my baby Shelton was diagnosed with Cockayne Syndrome. In May we saw the geneticist in person for the actual conformation and findings.
Robbins, "Cockayne syndrome and xeroderma pigmentosum: DNA repair disorders with overlaps and paradoxes," Neurology, vol.
The results indicated that NR was effective at restoring NAD+ levels in mitochondria and rescuing phenotypes associated with a devastating accelerated aging disease known as Cockayne Syndrome (CS).
Today, Sarah is meeting with other parents of children with Cockayne syndrome from across the country.
He was the only child in Wales with the most severe form of genetically inherited Cockayne Syndrome - a premature ageing disorder of which he had the most severe strain.
They include muscular dystrophy, all childhood cancers and conditions such as Lowe syndrome, Cockayne syndrome and multiple endocrine neoplasia, also known as Men.
Nick and Amy both have Cockayne Syndrome, an incurable genetic disorder so rare it is thought there are only a handful of patients with it in the UK.