Rothmund-Thomson syndrome

Rothmund-Thomson syndrome (RTS) is an extremely rare autosomal recessive disorder with heterogeneous clinical features.

It is characterized by many features which include:

  • poikiloderma: characteristic rash, typically develops in infancy
  • sparse hair, eyelashes, and/or eyebrows
  • small stature
  • skeletal anomalies
  • dental abnormalities
  • cataracts

The syndrome carries an increased risk for certain malignancies, especially osteosarcoma 1-3

The syndrome was originally described by August von Rothmund (1830-1906) in 1868. Further descriptions were published by Matthew Sydney Thomson (1894-1969) in 1936.

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Article Information

rID: 15253
Tag: cases
Synonyms or Alternate Spellings:
  • Rothmund-Thomson syndrome (RTS)

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