trisomy 10p
MeSH: C538290ORPHA: 171929
Overview
Trisomy 10p is a syndrome of mental retardation/multiple congenital malformations (MR-MCA) that is caused by the total or partial duplication of the short arm of chromosome 10
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 10p, sourced from HPO and Orphanet clinical annotations.
Intellectual disabilityGrowth delayIntrauterine growth retardationSmall for gestational ageAbnormality of the genitourinary systemAbnormal lip morphologyDolichocephalyHypertelorismHigh foreheadAbnormality of the noseAbnormality of the eyeAbnormality of the earAbnormality of the skeletal systemAbnormality of the handSeizureAbnormal foot morphologyAbnormal facial shapeProminent foreheadAbnormality of the kidneyRectovaginal fistulaOrofacial cleftHigh palateThin vermilion borderRetrognathiaEpicanthusMicrognathiaPosteriorly rotated earsLow-set earsMacrotiaAnteverted naresDownslanted palpebral fissuresUpslanted palpebral fissureGeneralized hypotoniaDandy-Walker malformationAbnormal hip joint morphologyAbnormal heart morphologyTalipes equinovarusShort toeFrontal bossingDysphagiaGastroesophageal refluxPoor suckFocal clonic seizureIncoordinationHemivertebraeShort noseDecreased muscle massDepressed nasal bridgeMultiple renal cystsUlnar deviated club handsAbnormal auditory evoked potentialsThumb contractureSimplified gyral patternWide cranial suturesEEG with burst suppressionLow voltage EEGEEG with focal spikesSevere global developmental delayPrimary microcephalyAbsent gallbladderCamptodactylyShort palpebral fissurePeriventricular white matter hypodensities
Classification & Codes
MeSH Code
C538290Orphanet Code
ORPHA:171929trisomy 10p
| MeSH | C538290 |
| Orphanet | ORPHA:171929 |
| Treatments | 0 drug(s) |
| Symptoms on record | 63 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO