|
skos:definition |
MSH: A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.,NCI: A genetic condition characterized by short stature, premature aging, sensitivity to light, and possibly deafness and mental retardation.,JABL: A syndrome of hypersensitivity to sunlight, dwarfism, microcephaly, psychomotor retardation, prematurely senile appearance, and retinal pigmentation. The syndrome is sometimes differentiated as Type 1 or A (onset at age 2 years or later), Type 2 or B (named later COMFAK, q.v.), and Type 3
|
