mosaic trisomy 3

ORPHA: 100071

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 3, sourced from HPO and Orphanet clinical annotations.

Abnormal pinna morphologyShort statureProminent foreheadCleft palateShort philtrumHearing impairmentLow-set earsGlaucomaMyopiaColobomaSyndactylyIntellectual disabilityJoint hypermobilityIntrauterine growth retardationFailure to thrive in infancyAbnormal heart morphologyIntractable diarrheaScoliosisHip dislocationArthralgiaSpina bifida occultaMalnutritionAcute myeloid leukemia

Classification & Codes

Orphanet Code

ORPHA:100071
mosaic trisomy 3
OrphanetORPHA:100071
Treatments0 drug(s)
Symptoms on record23 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO