Rothmund-Thomson syndrome type 2
ORPHA: 221016
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Rothmund-Thomson syndrome type 2, sourced from HPO and Orphanet clinical annotations.
Hyperpigmentation of the skinHypopigmentation of the skinPoikilodermaErythemaAbnormality of the dentitionFacial erythemaGrowth delaySmall for gestational ageNail dysplasiaShort statureDermal atrophyMultiple skeletal anomaliesSparse hairAplasia/Hypoplasia of the eyebrowSparse or absent eyelashesCryptorchidismCleft palateHigh palateFacial edemaSlender noseDevelopmental cataractCarious teethAbnormal dental enamel morphologyDelayed eruption of teethMicrodontiaOsteopeniaJoint dislocationDecreased total neutrophil countAnemiaVomitingDiarrheaLymphomaOsteosarcomaBasal cell carcinomaDelayed skeletal maturationPathologic fractureSquamous cell carcinomaMyelodysplasiaGenu varumPatellar hypoplasiaLong noseAbnormality of the radial headAbnormal ulnar metaphysis morphologyMetaphyseal sclerosisPatellar aplasiaAplasia/hypoplasia involving bones of the upper limbsAlopecia totalisPlantar hyperkeratosisAbnormal blistering of the skinNeoplasm of the skinShort phalanx of fingerTooth agenesisShort metacarpalAbnormality of immune system physiologyFunctional abnormality of the gastrointestinal tractMetaphyseal striationsNasogastric tube feedingSynostosis involving bones of the upper limbsAbnormal trabecular bone morphologyJuvenile cataractLeukemiaAplastic anemiaMelanomaCalcinosisFinger symphalangismPorokeratosis
Classification & Codes
Orphanet Code
ORPHA:221016Rothmund-Thomson syndrome type 2
| Orphanet | ORPHA:221016 |
| Treatments | 0 drug(s) |
| Symptoms on record | 66 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO