mosaic trisomy 14
MeSH: C535489ORPHA: 1703
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 14, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsWide mouthHigh palateMicrognathiaProminent nasal bridgeWide nasal bridgeShort neckIntellectual disabilityGlobal developmental delayFailure to thriveFrontal bossingAbnormality of chromosome segregationAbnormal cardiovascular system morphologyCryptorchidismHypospadiasCleft palateHypertelorismAnteverted naresBlepharophimosisNarrow chestSeizureEctopic anusBilateral single transverse palmar creasesMicrotiaHypoplasia of penisPtosisAbnormal rib morphologyAplasia/Hypoplasia affecting the eyeCamptodactyly of fingerLower limb asymmetry
Classification & Codes
MeSH Code
C535489Orphanet Code
ORPHA:1703mosaic trisomy 14
| MeSH | C535489 |
| Orphanet | ORPHA:1703 |
| Treatments | 0 drug(s) |
| Symptoms on record | 30 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO