{"entity":{"id":"dyskeratosis-congenita","kind":"term","name":"Dyskeratosis congenita and telomere biology disorders","aka":["telomere biology disorder","telomere biology disorders","short telomere syndrome"],"tldr":"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.\n\nAACR 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.","asOf":"2026-11-04","wikipedia":"https://en.wikipedia.org/wiki/Dyskeratosis_congenita","links":[{"label":"Nakano, Clin Cancer Res 2024: cancer screening in children with genomic instability disorders (AACR update)","url":"https://doi.org/10.1158/1078-0432.ccr-24-1098"},{"label":"Maese, Clin Cancer Res 2024: surveillance for children with predisposition to haematopoietic malignancy (AACR update)","url":"https://doi.org/10.1158/1078-0432.ccr-24-0685"},{"label":"Orphanet ORPHA:1775","url":"https://www.orpha.net/en/disease/detail/1775"}],"tags":["gap-fill","hereditary"],"related":["germline-myeloid-predisposition"],"cancers":["mds","aml","head-and-neck"],"sections":[],"technologies":["allogeneic-hsct","germline-testing"],"targets":["tert"],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["hereditary-cancer-syndromes"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Orphanet ORPHA:1775 (dyskeratosis congenita). NHS England tests DKC1, TERT and TERC under R91 (cytopenia, not Fanconi anaemia)."],"category":"Genomics & genetics"},"route":"/terms/dyskeratosis-congenita/","neighbours":{"term":[{"id":"germline-myeloid-predisposition","kind":"term","name":"Germline predisposition to myeloid neoplasms (inherited predisposition to AML and MDS)","route":"/terms/germline-myeloid-predisposition/"},{"id":"hereditary-cancer-syndromes","kind":"term","name":"Hereditary cancer syndromes","route":"/terms/hereditary-cancer-syndromes/"}],"cancer":[{"id":"aml","kind":"cancer","name":"Acute myeloid leukaemia","route":"/cancers/aml/"},{"id":"head-and-neck","kind":"cancer","name":"Head and neck squamous cell carcinoma","route":"/cancers/head-and-neck/"},{"id":"mds","kind":"cancer","name":"Myelodysplastic syndromes / neoplasms (MDS)","route":"/cancers/mds/"}],"technology":[{"id":"allogeneic-hsct","kind":"technology","name":"Allogeneic stem cell transplantation","route":"/technologies/allogeneic-hsct/"},{"id":"germline-testing","kind":"technology","name":"Germline (hereditary) testing","route":"/technologies/germline-testing/"}],"target":[{"id":"tert","kind":"target","name":"TERT","route":"/targets/tert/"}]}}