Edward A. Cockayne, a London physician specializing in hereditary diseases of children, first described features of this syndrome in a book published in 1933. It is one of several hereditary forms of genetic disease in which features of premature aging are present.
Type A Cockayne syndrome is one of three types recognized by physicians. The outstanding signs include slow physical growth and delayed mental development within the first few years of life. Individuals may be small and appear undernourished. Small heads and short stature are usually evident. Early development may be normal but milestones are soon lost and children appear to age rapidly. They often seem to age rapidly. A large variety of other symptoms and signs may be seen including hearing loss, joint contractures, a 'humpback', and thin, sparse hair. The skin is highly sensitive to the sun's rays. The teeth have many caries, and there are pigmentary changes in the retina with evidence of damage in the optic nerve. Cataracts are common. Many patients are farsighted and the eyes appear 'sunken'. Hypertension, atherosclerosis, and neurological deterioration lead to death at a young age.
This is an autosomal recessive disorder which requires the presence of two mutations to cause disease. Parents are not affected but carry a single copy of the mutation. If both parents carry the mutation, they can expect that 25% of their offspring will have Cockayne syndrome type A.
The diagnosis is often made by pediatricians and medical geneticists soon after birth based on the clinical features and the progression of symptoms. Most patients die late in adolescence or early in the third decade of life. No specific treatment is available but physical and supportive therapy can be helpful. The skin must be protected from te sun.