Rothmund-Thomson syndrome (RTS) is an extremely rare autosomal recessive disorder with heterogeneous clinical features.
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Clinical presentation
It is characterised by many features which include:
- poikiloderma: characteristic rash, typically develops in infancy
- sparse hair, eyelashes, and/or eyebrows
- small stature
- skeletal anomalies
-
skeletal dysplasias 4
- absent or malformed bones: radial ray anomalies (absent radii, absent thumb)
- osteopenia
- delayed bone formation
-
skeletal dysplasias 4
- dental abnormalities
- cataracts
Treatment and prognosis
Complications
The syndrome carries an increased risk for certain malignancies, especially osteosarcoma 1-3.
History and etymology
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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