Cockayne syndrome
Definition
Cockayne syndrome (CS) is a rare inherited disorder that results in an extreme sensitivity to ultraviolet (UV) irradiation, mental retardation, and precocious (premature) aging.
Description
Since first reported in 1936 by Dr. Edward A. Cockayne, less than 200 cases of this disorder have been documented in medical literature. At birth, newborns with CS may have microcephaly (small-sized head) and low birthweight. During the first year of life they do not feed well and, as a result, they suffer from growth failure and delayed development. Ultimately, the disease usually results in death during the teenage years.
Genetic profile
CS results from mutations in the CSA
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