Cockayne Syndrome - Key Clinical Features

(1) Pre- or post-natal growth failure (height and weight <5th centile by two years of age).

(2) Progressive neurologic dysfunction manifested as early developmental delay in most individuals, followed by progressive behavioral and intellectual deterioration in all individuals. Brain MRI reveals leukodystrophy and intracranial calcifications are seen in some individuals.

(3) Pigmentary retinopathy and/or cataracts. Congenital cataracts with other structural defects of the eye (microphthalmia, microcornea, iris hypoplasia) are suggestive for the severe form of CS.

(4) Cutaneous photosensitivity.

(5) Demyelinating peripheral neuropathy diagnosed by electromyography, nerve conduction testing, and/or nerve biopsy.

(6) Sensorineural hearing loss.

(7) Dental caries.

(8) Characteristic radiographic findings of thickening of the calvarium, sclerotic epiphyses, vertebral and pelvic abnormalities.

(9) A characteristic physical appearance of "cachectic dwarfism" with thinning of the skin and hair, sunken eyes, and a stooped standing posture.