Cockayne syndrome (Q56856): Difference between revisions

Cockayne syndrome (CS) is a multisystem condition characterised by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit. The annual incidence of CS is close to 1/200,000 in European countries. Disease severity and the age of onset are variable. In classical type I CS, the first symptoms usually appear during the first year of life. Early-onset cases with more severe symptoms (type II) and late-onset cases with milder symptoms (type III) have also been described. CS belongs to the family of NER (nucleotide excision repair)-related disorders.