cachexia, premature aging, dwarfism, skin atrophy, arteriosclerosis, progressive hearing loss, cognitive deficit, spasticity, ataxia, pigmentary retinopathy and optic atrophy
[orpha.net]
Poikiloderma consists of skin atrophy, telangiectasias, and mottled hyperpigmentation and hypopigmentation.
[aocd.org]
Patients present with cutaneous UV-sensitive lesions that generally develop into skin cancer, and also develop characteristic CS manifestations such as microcephaly, hydrocephalus
[orpha.net]