{"entity":{"id":"rothmund-thomson-syndrome","kind":"term","name":"Rothmund-Thomson syndrome","aka":["Rothmund-Thomson syndrome type 2","RECQL4 syndrome"],"tldr":"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.\n\nAACR 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.","asOf":"2026-11-04","wikipedia":"https://en.wikipedia.org/wiki/Rothmund–Thomson_syndrome","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":"Orphanet ORPHA:221016","url":"https://www.orpha.net/en/disease/detail/221016"}],"tags":["gap-fill","hereditary"],"related":[],"cancers":["osteosarcoma"],"sections":[],"technologies":["whole-body-mri","germline-testing"],"targets":["recql4"],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":["hereditary-cancer-syndromes"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":["Orphanet ORPHA:221016 (Rothmund-Thomson syndrome type 2)."],"category":"Genomics & genetics"},"route":"/terms/rothmund-thomson-syndrome/","neighbours":{"cancer":[{"id":"osteosarcoma","kind":"cancer","name":"Osteosarcoma","route":"/cancers/osteosarcoma/"}],"technology":[{"id":"germline-testing","kind":"technology","name":"Germline (hereditary) testing","route":"/technologies/germline-testing/"},{"id":"whole-body-mri","kind":"technology","name":"Whole-body MRI","route":"/technologies/whole-body-mri/"}],"target":[{"id":"recql4","kind":"target","name":"RECQL4","route":"/targets/recql4/"}],"term":[{"id":"hereditary-cancer-syndromes","kind":"term","name":"Hereditary cancer syndromes","route":"/terms/hereditary-cancer-syndromes/"}]}}