This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin, eyes, bones, and teeth. Signs and symptoms can include a characteristic facial rash (poikiloderma); sparse hair, eyelashes, and/or eyebrows; short stature; skeletal (bone) and dental abnormalities; cataracts; premature aging; and an increased risk for cancer, especially osteosarcoma. Gastrointestinal problems or blood disorders may also occur. It is inherited in an autosomal recessive manner and most often caused by changes (mutations) in the RECQL4 gene. In some cases, the genetic cause is unknown. Treatment focuses on the specific signs and symptoms present and may include laser treatment for skin abnormalities; surgery for cataracts; and standard treatment for cancer.
For more information, visit GARD.