A hereditary multisystem disorder characterized by premature aging, dwarfism, premature graying of the hair (canities|), alopecia, scleroderma like skin changes, trophic leg ulcers, cataracts, hypogonadism, diabetes mellitus, calcification of blood vessels, and osteoporosis. The extremities are extremely thin or spindly, the hands small, and the fingers short and deformed. Poorly developed genitalia and breasts and menstrual disorders are common. Except for the short stature other features develop in adult life, commonly in the third or fourth decade. Grating hair, scanty eyebrows, a pinched or beaked nose, protuberant eyes and the absence of eyelashes contribute to the presenile appearance. Either sex may be affected. Inheritance is autosomal recessive. Tendency to occur in brother and sister. This syndrome may also occur in forme fruste with only some of the signs present.
- C. W. O. Werner:
Über Katarakt in Verbindung mit Sklerodermie.
Doctoral thesis, University of Kiel. Schmidt and Klaunig, Kiel. 1904.