a genetic condition characterized by short stature, premature aging, sensitivity to light, and possibly deafness and mental retardation.
出典:Wiktionary
出典:Wikipedia
出典:『Wikipedia』 (2011/06/11 17:28 UTC 版)
Cockayne syndrome (also called Weber-Cockayne syndrome, or Neill-Dingwall Syndrome) is a rare autosomal recessive congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.:575 Hearing loss and eye abnormalities (pigmentary retinopathy) are other common features, but problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies. The underlying disorder is a defect in a DNA repair mechanism.