mosaic trisomy 20
ORPHA: 1724
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 mosaic trisomy 20, sourced from HPO and Orphanet clinical annotations.
ClinodactylyDysplastic tricuspid valveCleft lipFloppy infantRetrognathiaAbnormal spinal cord morphologyDepigmentation/hyperpigmentation of skinHypopigmented streaksMild global developmental delayChronic constipationDown-sloping shouldersCryptorchidismAbnormality of the kidneyHorseshoe kidneyCleft palateMicrognathiaHearing impairmentLong neckStrabismusUpslanted palpebral fissureDelayed speech and language developmentNarrow chestHypotoniaDysarthriaMotor delaySpecific learning disabilityIntrauterine growth retardationVentricular septal defectAbnormal mitral valve morphologyScoliosisKyphosisVertebral fusionFused cervical vertebraeSpinal canal stenosisVertebral segmentation defectCraniofacial asymmetryLimited pronation/supination of forearmWide intermamillary distance
Classification & Codes
Orphanet Code
ORPHA:1724mosaic trisomy 20
| Orphanet | ORPHA:1724 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO