Definition

A type of inherited disorder caused by mutations (changes) in certain genes involved in DNA repair. Changes in these genes can cause breaks, rearrangements, and other problems in the DNA. There are many different types of DNA repair deficiency syndromes. Most of these syndromes are marked by growth and developmental problems, premature aging, and disorders of the skin and nervous system. Having a DNA repair deficiency syndrome may increase a person’s risk of certain types of cancer. Also called DNA repair disorder.