ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
ORPHA: 228396
Overview
Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild 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 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome, sourced from HPO and Orphanet clinical annotations.
MicroretrognathiaHypoplasia of the maxillaSloping foreheadLong philtrumPosteriorly rotated earsAbnormal pinna morphologyAnteverted naresAbnormality of eye movementTelecanthusPtosisAbsent eyelashesThick eyebrowAbsent lacrimal punctumHighly arched eyebrowClinodactyly of the 5th fingerBiparietal narrowingTricuspid regurgitationThick vermilion border
Classification & Codes
Orphanet Code
ORPHA:228396ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
| Orphanet | ORPHA:228396 |
| Treatments | 0 drug(s) |
| Symptoms on record | 18 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO