mosaic trisomy 9

MeSH: C535454ORPHA: 99776

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 9, sourced from HPO and Orphanet clinical annotations.

CryptorchidismHorseshoe kidneyRenal dysplasiaHydronephrosisAbnormality of the uterusCleft palateHigh palateLarge fontanellesMicrocephalyProminent occiputHypertelorismMicrognathiaLow-set earsBulbous noseWebbed neckShort neckCystic hygromaMicrophthalmiaUpslanted palpebral fissureHypotelorismSingle umbilical arteryIntellectual disabilityGlobal developmental delayDandy-Walker malformationLimitation of joint mobilityIntrauterine growth retardationPolyhydramniosOligohydramniosVentricular septal defectAtrial septal defectPatent ductus arteriosusDextrocardiaAbnormal heart valve morphologyEndocardial fibroelastosisAspleniaTalipes equinovarusHydrops fetalisSmall nailRocker bottom footDeep plantar creasesTessier cleftAbnormal lung lobationVentriculomegalySpina bifidaIntestinal malrotationScoliosisSkeletal dysplasiaHip dislocationHemivertebraeMicromeliaElbow dislocationBiparietal narrowingMultiple renal cystsSupernumerary ribsDeep palmar creaseCorneal opacityHypoplasia of penisAbnormal fallopian tube morphologyHypoplastic female external genitaliaFinger clinodactylyCamptodactyly of fingerAbnormal liver lobulation

Classification & Codes

MeSH Code

C535454

Orphanet Code

ORPHA:99776
mosaic trisomy 9
MeSHC535454
OrphanetORPHA:99776
Treatments0 drug(s)
Symptoms on record62 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO