trisomy 17p
MeSH: C538048ORPHA: 261290
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 17p, sourced from HPO and Orphanet clinical annotations.
Polycystic kidney dysplasiaHydronephrosisWide mouthMacroglossiaNarrow mouthCleft palateOrofacial cleftHigh palateHydrocephalusMicrocephalyMalar flatteningCoarse facial featuresHypertelorismSmooth philtrumMicrognathiaHearing impairmentLow-set earsWide noseProminent noseShort neckStrabismusDownslanted palpebral fissuresPtosisCataractTapered fingerIntellectual disabilityHypotoniaGlobal developmental delayHypertoniaFlexion contractureGrowth delayIntrauterine growth retardationPatent ductus arteriosusAortic valve stenosisTalipesLow posterior hairlineGeneralized hirsutismScoliosisSkeletal muscle atrophyClinodactyly of the 5th fingerShort statureHypoplastic left ventricleProminent metopic ridgeUrethral stenosisHypoplasia of penisHigh anterior hairlineThick nasal alaeUrethral valveBroad eyebrowThick vermilion border
Classification & Codes
MeSH Code
C538048Orphanet Code
ORPHA:261290trisomy 17p
| MeSH | C538048 |
| Orphanet | ORPHA:261290 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO