Rothmund-Thomson syndrome type 1 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, and rapidly progressive bilateral juvenile cataracts. In contrast to RTS2, patients with RTS1 do not appear to have an increased risk of developing cancer. The disease is Rothmund-Thomson syndrome type 1 (MONDO_0016368). Also known as: RTS1, Rothmund-Thomson syndrome, type 1, poikiloderma of Rothmund-Thomson type 1.