Rothmund-Thomson syndrome
MeSH: D011038ORPHA: 2909
Overview
human disease
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, sourced from HPO and Orphanet clinical annotations.
Skin rashPoikilodermaMalar rashAbnormality of the dentitionSparse eyelashesInfertilityAbnormality of the skeletal systemSmall for gestational ageShort statureReduced bone mineral densityPlantar hyperkeratosisReticular hyperpigmentationAbnormal blistering of the skinSparse hairPalmar hyperkeratosisSparse eyebrowFacial edemaCarious teethAbnormal dental enamel morphologyDelayed eruption of teethHypoplasia of teethMicrodontiaOsteopeniaHypopigmentation of the skinJuvenile cataractSelective tooth agenesisAbnormal nail morphologySmall nailAbnormality of blood and blood-forming tissuesVomitingDiarrheaNail dysplasiaIncreased susceptibility to fracturesHypoplasia of the ulnaBroad ulnaAplasia/Hypoplasia of the patellaAplasia/Hypoplasia of the radiusAplasia/Hypoplasia of the skinNeoplasm of the skinShort thumbSupernumerary toothMetaphyseal striationsTelangiectasia of the skinAbnormal trabecular bone morphologyDecreased total neutrophil countAnemiaLeukemiaAplastic anemiaBasal cell carcinomaSquamous cell carcinomaMelanomaMyelodysplasiaCalcinosisAlopecia totalisNasogastric tube feeding in infancyPorokeratosis
Classification & Codes
MeSH Code
D011038Orphanet Code
ORPHA:2909Rothmund-Thomson syndrome
| MeSH | D011038 |
| Orphanet | ORPHA:2909 |
| Treatments | 0 drug(s) |
| Symptoms on record | 56 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO