A patient with Cockayne Syndrome may show a number of clinical findings.


Inheritance: autosomal recessive



(1) classic (CSI)

(2) severe (CSII)

(3) mild and slowly progressive


Clinical features:

(1) defective growth affecting height and weight (cachectic dwarfism)

(2) wizened (bird-like) facies (resembling the mummified head of Ramses II)

(3) microcephaly

(4) delayed psychomotor development

(5) frequent dental caries

(6) cataracts

(7) optic hypoplasia or atrophy

(8) progressive pigmentary retinopathy

(9) hearing loss

(10) calcification of the basal ganglia and other locations in the brain

(11) skin photosensitivity

(12) thin, dry hair

(13) limb ataxia and incoordination, with gait abnormality

(14) tremor

(15) increased muscle tone

(16) hypogonadism

(17) premature aging with death before adulthood


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