CS type I, the classical form, is characterized by a normal appearing newborn with symptoms that become apparent in the first wo years of life. Vision, hearing and nervous system functioning gets worse over time, resulting in severe disability.
CS type II, the congenital form, is more severe with obvious Growth failure at birth and little or no neurological development after birth. Serious vision impairments (cataracts and other Structural abnormalities of the eye) are usually present at birth.
CS type III is characterized by essentially normal growth and mental development during the early years, with onset of the typical symptoms of CS later in childhood or teen years. Affected individuals may also have problems with coordination, balance and speech (ataxia) and photosensitivity.
COFS syndrome includes the typical symptoms of CS as well as multiple joint contractures (arthrogryposis) and eye abnormalities.
Brain MRI on children with Cockayne syndrome shows white matter demyelination and cerebellar atrophy.
Children with Cockayne syndrome may have unusual physical features including an abnormally Small head (microcephaly), unusually thin nose, “hollow” or sunken appearance to the eyes, large misshapen ears, poor eyelid closure and/or the abnormal forward projection of both the upper and lower jaws (prognathism). There may be an unusual amount of dental decay due to the abnormal placement of the teeth. Affected individuals typically have large hands and feet and unusually long arms and legs in proportion to the size of their body. Joints may also be abnormally large and remain in a fixed position, and the spine may be curved outward when viewed from the side (kyphosis). Other features of Cockayne syndrome may include decreased Sweating (hypohidrosis), lack of proper tearing in the eyes and/or thin, dry hair.
Neurological symptoms may include rhythmic, quivering movements (tremors), an unsteady gait (ataxia), and/or the inability to coordinate movement. Affected children may experience varying degrees of intellectual disability, partial loss of hearing, and/or the progressive loss of previously acquired intellectual abilities.
The symptoms of Cockayne syndrome that affect the eyes may include progressive clouding of the lens of the eyes (cataracts), Loss of vision because of the wasting of the nerve fibers within the eyes (optic atrophy), Degeneration of the retina, and/or the abnormal accumulation of retinal coloration (pigmentation).
Some people with Cockayne syndrome also have an enlarged liver or spleen (hepatosplenomegaly), abnormally high blood pressure (hypertension), premature accumulation of fatty plaques on the walls of the arteries around the heart (arteriosclerotic disease) kidney disease and/or diabetes. Sexual maturation may be delayed.