Cockayne syndrome is characterized by growth retardation, microcephaly, photosensitivity, and a prematurely aged appearance. In the classical and most common form of Cockayne syndrome (Type I), growth and development generally proceed at a normal rate in infancy, with symptoms becoming apparent after 1 or 2 years of age. An early-onset or congenital form of Cockayne syndrome (Type II) is apparent at birth. This form of the syndrome generally involves more severe symptoms and earlier death. There is some recent evidence that there may be a third form, Cockayne syndrome Type III, which involves a late onset of symptoms (National Organization for Rare Disorders, Inc., 1995).
A congenital syndrome characterized by dwarfism, gait disturbance, microcephaly, ocular atrophy, photosensitivity, and premature aging.
This autosomal recessive genetic disorder gives rise to premature aging and the progressive deterioration of the nervous system. The syndrome is characterized by dwarfism and an unusually accelerated aging process. Individuals affected by this condition exhibit extremely delicate and sun-sensitive skin. Visual impairments may arise due to retinal degeneration or the wasting away (atrophy) of the optic nerve. Deafness and learning difficulties can also be present. The age of symptom onset and the disease’s progression vary among individuals.
Unfortunately, there is currently no cure available for the aging process or the neurological symptoms associated with this condition. However, individuals affected by the syndrome can take measures to safeguard their skin from sun damage. This can be achieved by avoiding exposure to ultraviolet light or by applying a suitable sunblock to protect exposed skin when spending time outdoors in sunlight.