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Cockayne syndrome

(KAH-kayn SIN-drome)
A rare genetic disorder that is caused by inheriting two mutations (changes) in the ERCC6 gene or in the ERCC8 gene. These genes make proteins involved in DNA repair. Cockayne syndrome is marked by shorter-than-average height, an abnormally small head, premature aging, sensitivity to light, and learning and developmental delays. Other signs and symptoms may include hearing loss, vision problems, tooth decay, bone abnormalities, and nervous system problems. The signs and symptoms usually appear during infancy and get worse over time. Cockayne syndrome is inherited in an autosomal recessive manner.
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Drawing showing an autosomal recessive inheritance pattern between a father, mother, and their four children: an unaffected father (carrier) with a mutated gene and a normal gene on a chromosome pair; an unaffected mother (carrier) with a mutated gene and a normal gene; an unaffected daughter with two normal genes; an unaffected son (carrier) with a mutated gene and a normal gene; an unaffected daughter (carrier) with a mutated gene and a normal gene; and an affected son with two mutated genes.Enlarge this image in new window
Autosomal recessive inheritance is a way a genetic trait or condition can be passed down from parent to child. A genetic condition can occur when the child inherits one copy of a mutated (changed) gene from each parent. The parents of a child with an autosomal recessive condition usually do not have the condition. Unaffected parents are called carriers because they each carry one copy of the mutated gene and can pass it to their children.
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