Cockayne syndrome

Cockayne syndrome, also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder marked by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight, eye disorders, and signs of premature aging. Failure to thrive together with neurological problems are the core criteria used for diagnosis, while photosensitivity, hearing loss, eye abnormalities, and dental cavities are other very common features, and problems can affect any or all of the internal organs. The condition is grouped with a set of disorders called leukodystrophies, which involve degradation of the brain's white matter. There are two primary types: Cockayne syndrome type A, arising from mutations in the ERCC8 gene, and Cockayne syndrome type B, arising from mutations in the ERCC6 gene. The underlying problem is a defect in a DNA repair mechanism, and unlike most other DNA repair disorders, people with Cockayne syndrome are not at increased risk of cancer or infection. It is a rare but destructive disease that usually results in death within the first or second decade of life. It is named after the English physician Edward Alfred Cockayne, who first described it in 1936 and again in 1946, while the alternate name Neill-Dingwall syndrome honors Mary M. Dingwall and Catherine A. Neill, who described two affected brothers and linked their findings, including brain calcifications, to Cockayne's earlier description.