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Cockayne 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 diseaseCockayne 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 syndromeCockayne syndrome - dwarfism, senile appearance, pigmentary degeneration of the retina, optic atrophy, deafness, sensitivity to sunlight, and mental retardation. Synonym(s): Cockayne diseaseWeber-Cockayne syndrome - see under Weber, Frederick ParkesFinancialSeec/s |