blepharophimosis, ptosis, and epicanthus inversus syndrome
MeSH: C562419ORPHA: 126
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 blepharophimosis, ptosis, and epicanthus inversus syndrome, sourced from HPO and Orphanet clinical annotations.
EpicanthusPtosisBlepharophimosisDepressed nasal bridgeMyopiaAbnormal lacrimal duct morphologyStrabismusNystagmusSynophrys
Classification & Codes
MeSH Code
C562419Orphanet Code
ORPHA:126blepharophimosis, ptosis, and epicanthus inversus syndrome
| MeSH | C562419 |
| Orphanet | ORPHA:126 |
| Treatments | 0 drug(s) |
| Symptoms on record | 9 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO