What is Texas Children’s Cancer Center and Hematology Service doing to study and treat Rothmund-Thomson Syndrome?
We are conducting research on the biology and genetic basis of Rothmund-Thomson Syndrome (RTS) which is a rare medical disorder. Mutations in the RTS gene have recently been identified, and we are performing mutational analysis on a research basis on patients with RTS. We are also interested in learning more about the medical problems associated with RTS. Children or adults with this syndrome can have one or more of the following problems: • Unusual skin coloration beginning in early childhood (poikiloderma) • Cataracts at a very young age (juvenile cataracts) • Bone abnormalities • Sparseness of hair or eyebrows/eyelashes • Increased risk of certain types of cancer including skin cancers and bone cancers (osteosarcoma) We are interested in identifying patients or families with this disorder anywhere in the United States or internationally. For families in the Houston area, children and adults with Rothmund-Thomson syndrome or related disorders can be evaluated in the Texas Children’s
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