# Dyskeratosis congenita and telomere biology disorders

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

## TL;DR

Dyskeratosis congenita and the related telomere biology disorders are inherited conditions in which the protective ends of chromosomes are too short, causing bone marrow failure and a raised risk of leukaemia and of mouth and throat cancers. Regular blood counts, marrow checks and yearly mouth and throat examinations from age ten are recommended.

## Summary

At least 18 genes with various inheritance: DKC1 (X-linked), RTEL1, TERT, TERC and TINF2 are the commoner ones. The classic triad is nail dystrophy, reticulated skin pigmentation and oral leukoplakia. About half develop severe bone marrow failure by 40; risk of MDS/AML and of head and neck squamous cell, anogenital and skin cancer starts in the late teens, with a cumulative incidence of solid tumours of 20 to 30% by 50, higher after transplant. Lymphocyte telomere length by flow-FISH helps diagnosis.

AACR 2024: for those with typical features, high-risk genes or very short telomeres, blood counts at least every six months and annual marrow examination to consider; an ear, nose and throat examination for premalignant lesions annually from age ten; dental review every six months. Less intensive care is reasonable for children with heterozygous variants in adult-onset genes.

## Fields

- Kind: Term
- Last checked: 2026-11-04
- Also known as: telomere biology disorder; telomere biology disorders; short telomere syndrome
- Tags: gap-fill; hereditary

## Notes

- Orphanet ORPHA:1775 (dyskeratosis congenita). NHS England tests DKC1, TERT and TERC under R91 (cytopenia, not Fanconi anaemia).

## Sources

- Wikipedia: https://en.wikipedia.org/wiki/Dyskeratosis_congenita
- 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
- Maese, Clin Cancer Res 2024: surveillance for children with predisposition to haematopoietic malignancy (AACR update): https://doi.org/10.1158/1078-0432.ccr-24-0685
- Orphanet ORPHA:1775: https://www.orpha.net/en/disease/detail/1775

## Connected records

- terms: [Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS)](https://onco.cc/terms/germline-myeloid-predisposition/), [Hereditary cancer syndromes](https://onco.cc/terms/hereditary-cancer-syndromes/)
- cancers: [Acute myeloid leukaemia](https://onco.cc/cancers/aml/), [Head and neck squamous cell carcinoma](https://onco.cc/cancers/head-and-neck/), [Myelodysplastic syndromes / neoplasms (MDS)](https://onco.cc/cancers/mds/)
- technologies: [Allogeneic stem cell transplantation](https://onco.cc/technologies/allogeneic-hsct/), [Germline (hereditary) testing](https://onco.cc/technologies/germline-testing/)
- targets: [TERT](https://onco.cc/targets/tert/)

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