mosaic variegated aneuploidy syndrome 1
MeSH: C536987ORPHA: 1052
Overview
Human disease
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 variegated aneuploidy syndrome 1, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsEpicanthusMicrognathiaGlaucomaCataractMicrophthalmiaDandy-Walker malformationAscitesPolyhydramniosVentriculomegalyMuscular dystrophyShort statureCorneal opacityIncreased nuchal translucencyMicrocephalyTriangular faceAbnormality of the eyeAbnormality of visionIntellectual disabilityGlobal developmental delayMulticystic kidney dysplasiaAmbiguous genitaliaCleft palateSloping foreheadHigh foreheadHearing impairmentWide noseDepressed nasal ridgeDownslanted palpebral fissuresHypothyroidismAbnormality of the skeletal systemAbnormal skull morphologyAbnormality of skin pigmentationSeizureHypotoniaHoloprosencephalyGrowth delayIntrauterine growth retardationAtrial septal defectAortic regurgitationAbnormal aortic morphologyCoarctation of aortaSubvalvular aortic stenosisFrontal bossingAbnormal lung lobationApneaDuodenal atresiaNeoplasmNephroblastomaOsteolysisAbnormality of the upper limbRhabdomyosarcomaMyelodysplasiaColon cancerClinodactyly of the 5th fingerAcute lymphoblastic leukemiaAplasia/Hypoplasia of the cerebellumAplasia/Hypoplasia of the corpus callosumMultiple cafe-au-lait spotsAbnormality of immune system physiologyStomach cancerAbnormal cardiovascular system morphologyVaginal neoplasmIntestinal polyposis
Classification & Codes
MeSH Code
C536987Orphanet Code
ORPHA:1052mosaic variegated aneuploidy syndrome 1
| MeSH | C536987 |
| Orphanet | ORPHA:1052 |
| Treatments | 0 drug(s) |
| Symptoms on record | 64 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO