The characteristic features of Werner syndrome include short stature, premature graying and balding, wizened face, beaked nose, cataracts, scleroderma-like skin changes (especially in the extremities), subcutaneous calcification (deposits of calcium beneath the skin), premature arteriosclerosis, muscular atrophy and tendencies to diabetes mellitus and to tumors (especially, osteosarcoma and meningioma).
The gene for Werner syndrome, symbolized WRN, is on chromosome 8 (in the region of bands 8p12-p11.2. It is a RECQL2 gene which encodes what is termed a RecQ DNA helicase. Bloom syndrome, which has features quite different from those of Werner syndrome, is caused by defects in another human RecQ-like helicase, RECQL3.
Werner syndrome has been much studied as a genetic model of aging. It is named for the German physician Otto Werner (1879-1936). In his doctoral dissertation in 1904, Werner described 4 sisters with cataracts and scleroderma-like skin. The name "Werner's syndrome" was first used in 1934 by two Americans, BS Oppenheimer and Kugel VH, who rediscovered Werner's dissertation.