Rothmund-Thomson syndrome
Rothmund-Thomson syndrome (RTS) is an extremely rare autosomal recessive disorder with heterogeneous clinical features.
Clinical presentation
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
- skeletal dysplasias
- absent or malformed bones: radial ray anomalies (absent radii, absent thumb)
- osteopenia
- delayed bone formation
- skeletal dysplasias
- dental abnormalities
- cataracts
Complications
The syndrome carries an increased risk for certain malignancies, especially osteosarcoma .
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.
Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Rothmund-Thomson syndrome:
