mosaic trisomy 1
ORPHA: 1692
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 trisomy 1, sourced from HPO and Orphanet clinical annotations.
Increased nuchal translucencyCongenital diaphragmatic herniaOmphaloceleRenal cystMicrophthalmiaLateral ventricle dilatationAgenesis of corpus callosumCerebellar vermis hypoplasiaCamptodactyly of finger2-3 finger cutaneous syndactylyHypoplastic thumbnailPulmonary hypoplasiaCoarse facial featuresDepressed nasal bridgeWide nasal bridgeLow-set earsWide mouthMicroretrognathiaPolyhydramniosOpacification of the corneal stromaOrofacial cleftRenal cortical cystsPosterior fossa cystEnlarged cisterna magnaCleft palateHand clenchingRocker bottom footAbnormal pinna morphologyMacrocephalyFrontal bossingMicropenisArachnodactylySmall nailComplete duplication of thumb phalanxToe syndactylyBroad 2nd toeDeviation of the 5th toeBroad toePolymicrogyriaCerebellar hypoplasiaElbow flexion contracturePenile hypospadiasSingle transverse palmar creaseLong toeFacial asymmetryCongenital bilateral ptosisThick lower lip vermilionShort upper lipAbsent distal interphalangeal creasesThoracic scoliosisKnee joint hypermobilityPulmonary artery atresiaVentricular septal defectModerate intellectual disabilitySingle umbilical arterySmall anterior fontanelleDownslanted palpebral fissuresCoarctation of aortaFinger clinodactylyHepatic agenesis
Classification & Codes
Orphanet Code
ORPHA:1692mosaic trisomy 1
| Orphanet | ORPHA:1692 |
| Treatments | 0 drug(s) |
| Symptoms on record | 60 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO