# Rothmund-Thomson syndrome

Source: https://onco.cc/terms/rothmund-thomson-syndrome/  
OnCo record `rothmund-thomson-syndrome` (Term). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

Rothmund-Thomson syndrome is a rare inherited condition with a distinctive skin rash called poikiloderma, and its type 2 form, caused by faults in RECQL4, carries a high risk of bone cancer in childhood. Families are taught the signs of bone cancer, and a baseline skeletal survey is done by age five.

## Summary

Autosomal recessive; type 2 is biallelic RECQL4 (a RecQ helicase), type 1 ANAPC1; CRIPT and DNA2 have been reported in others. Osteosarcoma prevalence in type 2 is about 30%, median onset 9 to 10, estimated probability about 50% by 20; skin cancer about 5%. Osteosarcoma outcomes are not worse than without RTS, so full-dose treatment is given unless toxicity develops.

AACR 2024: whole-body MRI could be used for osteosarcoma surveillance after weighing risks and benefits (benefit of early detection is uncertain and skeletal anomalies cause false positives); awareness of bone pain and swelling; baseline skeletal survey by five; sun protection; annual physical, eye and skin examination.

## Fields

- Kind: Term
- Last checked: 2026-11-04
- Also known as: Rothmund-Thomson syndrome type 2; RECQL4 syndrome
- Tags: gap-fill; hereditary

## Notes

- Orphanet ORPHA:221016 (Rothmund-Thomson syndrome type 2).

## Sources

- Wikipedia: https://en.wikipedia.org/wiki/Rothmund–Thomson_syndrome
- Nakano, Clin Cancer Res 2024: cancer screening in children with genomic instability disorders (AACR update): https://doi.org/10.1158/1078-0432.ccr-24-1098
- Orphanet ORPHA:221016: https://www.orpha.net/en/disease/detail/221016

## Connected records

- cancers: [Osteosarcoma](https://onco.cc/cancers/osteosarcoma/)
- technologies: [Germline (hereditary) testing](https://onco.cc/technologies/germline-testing/), [Whole-body MRI](https://onco.cc/technologies/whole-body-mri/)
- targets: [RECQL4](https://onco.cc/targets/recql4/)
- terms: [Hereditary cancer syndromes](https://onco.cc/terms/hereditary-cancer-syndromes/)

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