Rothmund-Thomson syndrome (RTS)

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
• 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:

• Osteosarkom
• Radiusaplasie
• Daumenaplasie
• radial ray anomalies

und weiter:

• radial ray anomaly
• Baller-Gerold-Syndrom
• DeSanctis-Cacchione-Syndrom