dyskeratosis congenita
MeSH: D019871ORPHA: 1775
Overview
rare progressive congenital disorder with a highly variable phenotype
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 dyskeratosis congenita, sourced from HPO and Orphanet clinical annotations.
Abnormal morphology of female internal genitaliaAbnormal testis morphologyAbnormality of the dentitionHypoplasia of the maxillaHearing impairmentBlepharitisAbnormal eyelash morphologyCataractAbnormal eyebrow morphologyAbnormality of the pharynxHypodontiaCarious teethTaurodontiaPeriodontitisDiabetes mellitusOsteoporosisHyperhidrosisPalmoplantar keratodermaHypermelanotic maculeHypopigmented skin patchesAbnormal fingernail morphologyGlobal developmental delayCirrhosisHepatic failureIntrauterine growth retardationAlopeciaSplenomegalyThrombocytopeniaAbnormality of neutrophilsAnemiaAbnormality of coagulationMalabsorptionRecurrent respiratory infectionsPremature graying of hairHepatomegalyCerebral calcificationTracheoesophageal fistulaScoliosisNeoplasmLymphomaOral leukoplakiaRecurrent fracturesNeoplasm of the pancreasShort statureCellular immunodeficiencyBone marrow hypocellularityAplasia/Hypoplasia of the skinAbnormal blistering of the skinSparse hairNail dystrophyUrethral stenosisEsophageal stenosisAplastic/hypoplastic toenailAvascular necrosisWhite hairAnorectal anomalyMaculeTelangiectasia of the skinDisplacement of the urethral meatusCoarse metaphyseal trabecularizationSkin vesicleSkin ulcer
Classification & Codes
MeSH Code
D019871Orphanet Code
ORPHA:1775dyskeratosis congenita
| MeSH | D019871 |
| Orphanet | ORPHA:1775 |
| Treatments | 0 drug(s) |
| Symptoms on record | 62 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO