Rothmund-Thomson syndrome type 1
ORPHA: 221008
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 1, sourced from HPO and Orphanet clinical annotations.
PoikilodermaJuvenile cataractCryptorchidismAbnormality of the dentitionDevelopmental cataractHyperpigmentation of the skinTelangiectasiaHypopigmentation of the skinFacial erythemaGrowth delaySmall for gestational ageNail dysplasiaShort statureDermal atrophyMultiple skeletal anomaliesSparse hairHypogonadismFacial edemaCarious teethAbnormal dental enamel morphologyDelayed eruption of teethMicrodontiaHypothyroidismIntellectual disabilityGlobal developmental delayDecreased total neutrophil countAnemiaVomitingDiarrheaMyelodysplasiaAttention deficit hyperactivity disorderAlopecia totalisPlantar hyperkeratosisAbnormal blistering of the skinNeoplasm of the skinPremature ovarian insufficiencyTooth agenesisAbnormality of immune system physiologyFunctional abnormality of the gastrointestinal tractBone fractureMetaphyseal striationsNasogastric tube feedingAbnormal trabecular bone morphologyAplasia/Hypoplasia of the eyebrowSparse or absent eyelashesOsteopeniaLeukemiaAplastic anemiaOsteosarcomaBasal cell carcinomaDelayed skeletal maturationSquamous cell carcinomaMelanomaGenu varumPatellar hypoplasiaCalcinosisAbnormality of the radial headAbnormal ulnar metaphysis morphologyMetaphyseal sclerosisPatellar aplasiaFinger symphalangismShort phalanx of fingerShort metacarpalPorokeratosis
Classification & Codes
Orphanet Code
ORPHA:221008Rothmund-Thomson syndrome type 1
| Orphanet | ORPHA:221008 |
| Treatments | 0 drug(s) |
| Symptoms on record | 64 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO