Inheritance: autosomal recessive
Types:
(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
