trisomy 20p
MeSH: C535371ORPHA: 261318
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 trisomy 20p, sourced from HPO and Orphanet clinical annotations.
Full cheeksRound faceProtruding earShort neckThick eyebrowHypotoniaGait disturbanceJoint hypermobilityAbnormal facial shapeAbnormal speech patternIncoordinationHighly arched eyebrowAbnormality of chromosome segregationAbnormal form of the vertebral bodiesAbnormal autonomic nervous system physiologyCognitive impairmentHerniaInguinal herniaAbnormality of the dentitionAbnormal palate morphologyBrachycephalyEpicanthusLow anterior hairlineHypertelorismMicrognathiaPosteriorly rotated earsMacrotiaAnteverted naresStrabismusUpslanted palpebral fissureBrachydactylyPlagiocephalyUmbilical herniaAbnormal foot morphologyTalipesLow posterior hairlineCoarse hairSpina bifidaShort noseAbnormal hip bone morphologyFinger syndactylyThick hairCryptorchidismHypospadiasMacroorchidismAbnormality of the ureterAbnormality of the kidneyHydronephrosisEverted lower lip vermilionThin vermilion borderDolichocephalySmooth philtrumShort philtrumDownslanted palpebral fissuresBlepharophimosisMicrodontiaPlatyspondylyPreaxial hand polydactylyFrontal bossingScoliosisDownturned corners of mouthKyphosisVertebral segmentation defectReduced bone mineral densityEctopic anusMultiple renal cystsWide intermamillary distanceAbnormal antihelix morphologyAbnormal cardiovascular system morphologyCamptodactyly of fingerAbnormal localization of kidney
Classification & Codes
MeSH Code
C535371Orphanet Code
ORPHA:261318trisomy 20p
| MeSH | C535371 |
| Orphanet | ORPHA:261318 |
| Treatments | 0 drug(s) |
| Symptoms on record | 71 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO