Rothmund Thomson Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal recessive genetic disorder that mainly affects the skin. Subjects present with a rash and prominent poikiloderma, juvenile cataracts, saddle shaped nose, skeletal dysplasia and a predisposition to osteosarcoma and skin cancers. The disorder is attributed to mutations of the RECQL4 helicase gene on 8q24.