Rothmund-Thomson Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive inherited syndrome usually caused by mutations in the RECQL4 gene. It is characterized by poikilodermatous skin changes, sparse hair, cataracts, small stature, skeletal abnormalities, and an increased predisposition to cancer, particularly osteosarcoma.

**Synonyms:** - RTS - RTS - Rothmund Thomson Syndrome - Rothmund-Thompson Syndrome - Rothmund-Thomson syndrome