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Rothmund-Thomson Syndrome

Abstract

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NORD is very grateful to Lisa L. Wang, MD, Texas Children's Cancer Center, Baylor College of Medicine, for assistance in the preparation of this report.

Synonyms of Rothmund-Thomson Syndrome

  • poikiloderma atrophicans and cataract
  • poikiloderma congenitale
  • RTS

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Rothmund-Thomson syndrome (RTS) is a rare genetic disorder that can affect many parts of the body. The disorder is characterized by distinctive abnormalities of the skin, sparse hair, eyelashes and/or eyebrows, small stature, skeletal and dental abnormalities, and an increased risk of cancer, especially bone cancer (osteosarcoma). Patients typically begin having signs of RTS during infancy, and the first feature to appear is a rash that starts on the cheeks and later spreads to other parts of the body. The rash gradually becomes chronic and persists for life. Other features may appear that involve other areas of the body such as the eyes, bones, teeth, and hair, and patients may often be small in size compared to their peers. Patients are at an increased risk for developing cancer, particularly certain types of skin and bone cancer. Lifespan is generally felt to be normal in the absence of death due to cancer, although follow-up data in the published literature are limited. RTS is inherited as an autosomal recessive genetic condition. The gene defect in two-thirds of cases is due to mutations in a gene called RECQL4. For the other one-third of patients, the gene(s) involved has not yet been identified.

Organizations related to Rothmund-Thomson Syndrome

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., skin abnormalities, visual abnormalities, short stature, dental malformations, mental retardation, etc.].)

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