Atlas One · Host Biology · Scale 07 — System

Rothmund-Thomson Syndrome

Rothmund-Thomson syndrome is caused by biallelic RECQL4 mutations; poikiloderma (onset 3-6 months), skeletal abnormalities, juvenile cataracts; ~30% osteosarcoma risk (peak age 11-14 years); SCE not elevated; management centers on osteosarcoma surveillance.

Also known as: Rothmund-Thomson syndrome, Rothmund-Thomson, RTS syndrome, RECQL4 syndrome, Rothmund Thomson poikiloderma, Rothmund-Thomson osteosarcoma, RTS osteosarcoma, Rothmund-Thomson RECQL4, poikiloderma with osteosarcoma

Scale 07 — SystemScale
draftStatus
2026-06-07Last Reviewed
This is an auto-generated stub page built from atlas entry frontmatter. A richer hand-crafted page is planned. See the atlas source for the full entry including detailed body sections.
rothmund-thomson

Rothmund-Thomson Syndrome

Rothmund-Thomson syndrome is caused by biallelic RECQL4 mutations; poikiloderma (onset 3-6 months), skeletal abnormalities, juvenile cataracts; ~30% osteosarcoma risk (peak age 11-14 years); SCE not elevated; management centers on osteosarcoma surveillance.

Entry Metadata

FieldValue
IDrothmund-thomson
NameRothmund-Thomson Syndrome
Statusdraft
Last reviewed2026-06-07
Atlas01-human
Scale07-system

Cross-Atlas Connections

connects-toRecql4 connects-toWrn connects-toBlm connects-toWerner Syndrome connects-toOsteosarcoma connects-toSkin connects-toOsteoblast connects-toBloom Syndrome connects-toEye connects-toMusculoskeletal System connects-toLi Fraumeni Syndrome connects-toRetinoblastoma connects-toBasal Cell Carcinoma connects-toFibroblast connects-toCdkn2A connects-toEwing Sarcoma connects-toPhoton connects-toP53 connects-toBone Marrow connects-toIntegumentary System connects-toReproductive System connects-toMds connects-toAtm connects-toCollagen connects-toMdm2 connects-toRad51 connects-toOxygen connects-toNatural Killer Cell connects-toCalcium connects-toT Cytotoxic Cell connects-toVegf connects-toPhosphorus connects-toEndothelial Cell connects-toFibrosis connects-toElectron connects-toOsteoclast connects-toIron connects-toGrowth Hormone connects-toAml connects-toPlatelet connects-toMelanoma connects-toErythrocyte connects-toVitamin D connects-toAplastic Anemia connects-toTert connects-toThymus connects-toHnscc connects-toBrca2 connects-toDendritic Cell connects-toRb1 connects-toSepsis connects-toVenous Thromboembolism connects-toOsteoporosis connects-toAnemia Of Chronic Disease connects-toCkd connects-toHeart Failure connects-toAspergillus Fumigatus connects-toMajor Depressive Disorder connects-toWound Healing connects-toEndocrine System connects-toGeneralized Anxiety Disorder connects-toDigestive System connects-toRespiratory System connects-toVaricella Zoster Virus connects-toImmune System connects-toRenal System connects-toCardiovascular System connects-toNervous System connects-toTargeted Therapy connects-toLymphatic System connects-toCancer Chemotherapy connects-toCheckpoint Inhibitors connects-toCortical Bone connects-toAlveolus connects-toRhabdomyosarcoma connects-toAll connects-toMutyh Associated Polyposis connects-toHepatic Lobule connects-toAtp connects-toBrca1 connects-toCmml connects-toCovid 19 Disease connects-toCdk4 6 connects-toIgf 1 connects-toMyc connects-toAkt connects-toCyclin D1 connects-toHif 1Alpha connects-toCdkn1A connects-toRankl connects-toCaspase 3 connects-toXanthine Oxidase connects-toCgas Sting connects-toPdgf connects-toE2F1 connects-toNfe2L2 connects-toWnt Beta Catenin connects-toAtrx connects-toPik3Ca connects-toErk1 2 connects-toKras connects-toBcl 2 connects-toJak1 2 connects-toMtor connects-toPten connects-toGalectin 3 connects-toStat1 connects-toFoxo connects-toSmad4 connects-toGsk 3B connects-toPerforin connects-toS100A8 A9 connects-toSrc Kinase connects-toDnmt3A connects-toAutophagy connects-toAmpk connects-toCcr5 connects-toArid1A connects-toCxcl12 connects-toIl 6 connects-toIl 1B connects-toPth connects-toSclerostin connects-toAngiopoietin connects-toMhc Class Ii connects-toIl 2 connects-toPd 1 connects-toHemoglobin connects-toTroponin Complex connects-toIl 10 connects-toIl 4 connects-toProstaglandins connects-toLung connects-toIl 13 connects-toBloom Syndrome connects-toIron connects-toPhoton connects-toType I Interferon connects-toLeptin connects-toAdiponectin connects-toResistin connects-toIfn Gamma connects-toIl 12 connects-toIl 5 connects-toIge connects-toMast Cell connects-toT Helper Cell connects-toPlasma Cell connects-toMacrophage connects-toB Cell connects-toComplement C3 connects-toTslp connects-toErythropoietin connects-toBradykinin connects-toC1 Esterase Inhibitor connects-toHistamine connects-toPeriostin connects-toMelatonin connects-toTestosterone connects-toSerotonin connects-toOxytocin connects-toVasopressin connects-toProlactin connects-toSelenium connects-toIodine connects-toSodium connects-toMagnesium connects-toCopper connects-toZinc connects-toCarbon connects-toChloride connects-toHydrogen connects-toNitrogen connects-toPotassium connects-toSulfur connects-toGlp 1 connects-toAngiotensin Ii connects-toFibronectin connects-toNotch connects-toActivin A connects-toCgrp connects-toTgf Beta connects-toCalcitonin connects-toSubstance P connects-toInsulin Receptor connects-toAldosterone connects-toAndrogen Receptor connects-toNorepinephrine connects-toAdrenomedullin connects-toBdnf connects-toOsteopontin connects-toFgfr connects-toEpinephrine

Sources