ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
MONDO:0016457Mondo
Findings
No curated finding names ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0016457), read 2026-09-29. CC BY 4.0.
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of eye movementHPOHP:0000496
- Very frequent (80% to 99% of cases)
- Absent eyelashesHPOHP:0000561
- Very frequent (80% to 99% of cases)
- Absent lacrimal punctumHPOHP:0001092
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Biparietal narrowingHPOHP:0004422
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Very frequent (80% to 99% of cases)
Show the remaining 6
- Abnormal pinna morphologyHPOHP:0000377
- Frequent (30% to 79% of cases)
- MicroretrognathiaHPOHP:0000308
- Frequent (30% to 79% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Frequent (30% to 79% of cases)
- Sloping foreheadHPOHP:0000340
- Frequent (30% to 79% of cases)
- Thick vermilion borderHPOHP:0012471
- Frequent (30% to 79% of cases)
- Tricuspid regurgitationHPOHP:0005180
- Frequent (30% to 79% of cases)
Where it sits
- A kind of