Rothmund-Thomson syndrome

Last revised by Daniel J Bell on 17 Jan 2022

Citation, DOI, disclosures and article data

Citation:

Weerakkody Y, Bell D, Smith H, et al. Rothmund-Thomson syndrome. Reference article, Radiopaedia.org (Accessed on 16 Apr 2024) https://doi.org/10.53347/rID-15253

DOI:

https://doi.org/10.53347/rID-15253

Permalink:

https://radiopaedia.org/articles/15253

rID:

15253

Article created:

5 Oct 2011, Yuranga Weerakkody ◉

Disclosures:

At the time the article was created Yuranga Weerakkody had no recorded disclosures.

View Yuranga Weerakkody's current disclosures

Last revised:

17 Jan 2022, Daniel J Bell ◉

Disclosures:

At the time the article was last revised Daniel J Bell had no recorded disclosures.

View Daniel J Bell's current disclosures

Revisions:

4 times, by 3 contributors - see full revision history and disclosures

Systems:

Musculoskeletal, Obstetrics

Sections:

Syndromes

Tags:

cases

Synonyms:

Rothmund-Thomson syndrome (RTS)

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

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
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.