Cockayne syndrome
Pronunciation: kok′ān
Definition: dwarfism, precociously senile appearance, pigmentary degeneration of the retina, optic atrophy, deafness, sensitivity to sunlight, microcephaly, and mental retardation; autosomal recessive inheritance associated with defective excision repair of DNA. There are various complementation groups.
Synonym(s): Cockayne disease
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