Rothmund-Thomson syndrome type 2 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, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life. The disease is Rothmund-Thomson syndrome type 2 (MONDO_0016369). Also known as: RTS2, Rothmund-Thomson syndrome, type 2, poikiloderma of Rothmund-Thomson type 2.