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Rothmund-Thomson Syndrome

An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.

Year introduced: 2006 (1964)

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Tree Number(s): C16.131.831.775, C16.320.850.765, C16.614.760, C17.800.804.775, C17.800.827.775, C18.452.284.760

MeSH Unique ID: D011038

Entry Terms:

  • Rothmund Thomson Syndrome
  • Syndrome, Rothmund-Thomson
  • Poikiloderma Congenitale of Rothmund-Thomson
  • Poikiloderma Atrophicans and Cataract
  • Congenital Poikiloderma
  • Poikiloderma Congenitale
  • Congenitale, Poikiloderma
  • Congenitales, Poikiloderma
  • Poikiloderma Congenitales
  • Poikiloderma of Rothmund-Thomson
  • Poikiloderma of Rothmund Thomson
  • Rothmund-Thomson Poikiloderma
  • Rothmund-Thomson Poikilodermas

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