trisomy 12p
MeSH: C538299ORPHA: 1699
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 trisomy 12p, sourced from HPO and Orphanet clinical annotations.
Everted lower lip vermilionTurricephalyMalar flatteningEpicanthusFull cheeksHypertelorismMicrognathiaWide nasal bridgeShort neckThickened nuchal skin foldThick eyebrowLarge handsIntellectual disabilityGlobal developmental delayDownturned corners of mouthAbnormality of chromosome segregationShort noseClinodactyly of the 5th fingerAbnormal antihelix morphologyFlat faceLow-set earsProptosisDelayed skeletal maturationShort statureAbnormal cardiovascular system morphologyAbnormality of the urinary systemCleft palateAnal atresiaSupernumerary nippleAplasia/Hypoplasia of the irisAplasia/Hypoplasia affecting the eye
Classification & Codes
MeSH Code
C538299Orphanet Code
ORPHA:1699trisomy 12p
| MeSH | C538299 |
| Orphanet | ORPHA:1699 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO