definitionCockayne`s syndrome is a rare inherited disorder characterized by growth retardation, photosensitivity, premature ageing and early death. The extent and severity of the clinical symptoms vary in the affected individuals. Onset of symptoms in the second year of life is heralded by a scaly erythematous eruption in the sun-exposed areas of the skin that may resolve, leaving hyperpigmentation or scarring. The earliest neurological symptom is delayed psychomotor development. Most patients with severe forms die by the age of 6 or 7. In these cases, typical progeric dwarf-like features are noted before the age of 2 years. | synonymsCockayne´s Syndrome |
UMLSCachectic Dwarfism, Cockayne Syndrome, Cockayne's syndrome, Dwarfism, Cachectic, Dwarfism-retinal atrophy-deafness syndrome, Progeria-like syndrome, Syndrome, Cockayne, Syndrome, Cockayne's, Syndrome#x# Cockayne's |
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