Fanconi anemia
MeSH: D005199ORPHA: 84
Overview
human genetic 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 Fanconi anemia, sourced from HPO and Orphanet clinical annotations.
HypogonadismCleft palateHigh palateHydrocephalusDolichocephalyEpicanthusHypertelorismFacial asymmetrySloping foreheadMicrognathiaHearing abnormalityHearing impairmentChoanal atresiaAbnormality of the eyeAstigmatismStrabismusAbnormal eyelid morphologyAbnormality of visionVisual impairmentPtosisCataractProptosisMicrophthalmiaUpslanted palpebral fissureNystagmusBicornuate uterusAbnormality of the hypothalamus-pituitary axisTriphalangeal thumbHyperreflexiaAbnormality of the liverGrowth delayIntrauterine growth retardationUmbilical herniaOligohydramniosAtrial septal defectTetralogy of FallotHypertrophic cardiomyopathyPatent ductus arteriosusAbnormal aortic valve morphologyAbnormal aortic morphologyAbnormal foot morphologyPes planusToe syndactylyWeight lossFrontal bossingAnal atresiaVentriculomegalyMeckel diverticulumAganglionic megacolonSpina bifidaTracheoesophageal fistulaAbnormal femur morphologyHip dislocationMyelodysplasiaHypoplasia of the ulnaClinodactyly of the 5th fingerReduced bone mineral densityAbnormal carotid artery morphologyFinger syndactylyAplasia/Hypoplasia of fingersCranial nerve paralysisMultiple cafe-au-lait spotsAplasia/Hypoplasia of the irisRenal hypoplasia/aplasiaAplasia/Hypoplasia of the uvulaAbsent testisDecreased fertility in malesAbnormal nervous system morphologyAbnormal morphology of ulnaArteriovenous malformationAbnormal localization of kidneyAbnormal preputium morphologyClubbing of toesDuodenal stenosisAbnormality of skin pigmentationHypopigmented skin patchesAbnormal thumb morphologyAbnormality of blood and blood-forming tissuesThrombocytopeniaDecreased total leukocyte countAnemiaAbnormality of the upper limbAbnormality of chromosome stabilityShort staturePyridoxine-responsive sideroblastic anemiaAplasia/Hypoplasia of the radiusIrregular hyperpigmentationAbnormality of the urinary systemMicrocephalyIntellectual disabilityGlobal developmental delayAbnormal cardiac septum morphologyScoliosisNeoplasmAlmond-shaped palpebral fissureAbnormal renal morphologyShort palpebral fissureRecurrent urinary tract infectionsAzoospermiaCryptorchidismAbnormal testis morphologyHypospadiasHydroureterRenal insufficiencyAbnormality of the uterusAbnormal pinna morphology
Classification & Codes
MeSH Code
D005199Orphanet Code
ORPHA:84Fanconi anemia
| MeSH | D005199 |
| Orphanet | ORPHA:84 |
| Treatments | 0 drug(s) |
| Symptoms on record | 106 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO