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Rothmund-Thomson syndrome

Disease definition

Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.

ORPHA:2909

  • Synonym(s):
    • Poikiloderma of Rothmund-Thomson
    • RTS
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q82.8
  • OMIM: 268400
  • UMLS: C0032339
  • MeSH: D011038
  • GARD: 4392
  • MedDRA: -

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