20p12.3 microdeletion syndrome
ORPHA: 261295
Overview
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.
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 20p12.3 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
Narrow mouthMacrocephalyMalar flatteningEpicanthusFull cheeksHypertelorismHypoplasia of the maxillaLong philtrumThickened helicesWide nasal bridgeDownslanted palpebral fissuresPectus carinatumSeizureHypotoniaGlobal developmental delayAtrial septal defectWolff-Parkinson-White syndromeVentriculomegalyShort statureDepressed nasal bridgeMicrotiaBroad hallux phalanxBroad thumb
Classification & Codes
Orphanet Code
ORPHA:26129520p12.3 microdeletion syndrome
| Orphanet | ORPHA:261295 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO