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ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome

MONDO:0016457

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.

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Hypoplasia of the maxilla, Long philtrum, Anteverted nares, and Abnormal eye movements (abnormality of eye movement) and others; and common findings: Microretrognathia, Sloping forehead, Posteriorly rotated ears, and Abnormal pinna morphology and others.

Organ System	Phenotype Count	Example Features
Eyes	2	Abnormal eye movements (abnormality of eye movement), Ptosis

Prognosis

Phenotype severity distribution: 12 very common features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome.

1 publication has been identified in PubMed for ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome. Research spans Epidemiology / Natural History (100%).

Recent Publications

Fang F (2025). [PMID: 39934612](https://pubmed.ncbi.nlm.nih.gov/39934612/). *Ophthalmol Ther*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 2:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:228396

GARD

Genetic and Rare Diseases Info Center

GARD:20593

Questions for Your Care Team

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ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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