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A complex inherited and congenital disorder characterized by the association of dwarfism, deafness, microcephaly, facial anomalies, ataxia, photosensitivity, retinal atrophy, and renal insufficiency with premature aging and atherosclerosis.

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Deafness-Dwarfism-Retinal Atrophy; Dwarfism with Renal Atrophy and Deafness; Neill-Dingwall Syndrome; Progeroid Nanism.

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First described by the English Physician Edward Alfred Cockayne in 1936.

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Occurs in approximately 1:200,000 live births. No ethnic or sexual predilection has been reported.

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Autosomal recessive. Cockayne syndrome (CS) type I (also called type A, see Clinical Aspects) results from a defect in the CS type A or CSA or ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8) gene, which is located on chromosome 5. Cells carrying the mutated ERCC8 gene exhibit a hypersensitivity to ultraviolet light. After exposure to ultraviolet light, these cells fail to recover their ability to synthesize ribonucleic acid and to repair or excise and degrade lesions in deoxyribonucleic acid strands. In CS type II (type B), the mutation affects the transcription-coupled and global genome DNA excision repair gene ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6), which has been mapped to 10q11.

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A defective transcription-coupled repair of oxidative damages to the DNA contributes to developmental defects.

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In classic CS type I, the diagnosis is based on the clinical findings, whereas the “nonclassic” form is confirmed by DNA repair assays in lymphoblasts or skin fibroblasts. In older children, classic CS type I should be suspected in the presence of both major and three minor criteria. In infants or toddlers, the diagnosis is likely when one minor and both major criteria are fulfilled and abnormalities in DNA repair are present. The major criteria consist of (1) postnatal growth retardation (height and weight below the fifth percentile at 2 years of age resulting in “cachectic dwarfism” appearance) and (2) progressive neurologic dysfunction (early developmental delay and progressive deterioration). Intracranial pericapillary calcifications (in cortex and basal ganglia), leukodystrophy with scattered neuronal loss, and normal pressure hydrocephalus may be present. The seven minor criteria are (1) dermal photosensitivity (poikiloderma), (2) pigmentary retinopathy, blindness, and/or cataracts, (3) diffuse and segmental peripheral demyelination with decreased nerve conduction velocity, (4) sensorineural hearing loss, (5) sclerotic epiphyses, vertebral and pelvic abnormalities, thickening of the calvarium, (6) thin skin and brittle hair, sunken eyes, and stooped standing posture, and (7) dental cavities. In CS type II, the diagnosis is based on the findings of failure to thrive beginning right from birth with severely delayed gains in height and weight combined with absent or minimal progress in the neurologic development. Eye anomalies are frequent and include congenital cataracts and other structural ocular defects such as microphthalmos and microcornea.

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Premature aging is the hallmark of all types of CS. CS I (type A or “classic” form) presents in infancy and is less severe than CS ...

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