Rothmund-Thomson Syndrome

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How do people inherit Rothmund-Thomson syndrome?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

What other names do people use for Rothmund-Thomson syndrome?

  • Congenital poikiloderma

  • Poikiloderma atrophicans and cataract

  • Poikiloderma Congenitale

  • Poikiloderma congenitale of Rothmund-Thomson

  • RTS

Where can I find information about treatment for Rothmund-Thomson syndrome?

Gene reviews: Treatment for Rothmund-Thomson Syndrome

SOURCE: Genetics Home Reference, National Institutes of Health

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