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This syndrome is characterized by the association of microtia, eye coloboma, and imperforation of the nasolacrimal duct.
Features include: Microtia.
Biomarker and diagnostic research for microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome.
134 publications have been identified in PubMed for microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome. Kisho has analyzed 92 by research type. Research spans Review / Meta-Analysis (51%), Case Report / Case Series (20%), and Basic Science / Preclinical (15%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 47 |
Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 9:23 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Patient case studies | 18 | 20% |
Laboratory research | 14 | 15% |
Disease patterns and progression | 7 | 8% |
Testing and diagnosis research | 2 | 2% |
Clinical study results | 2 | 2% |
New treatment approaches | 2 | 2% |
Zubair A (2026). [PMID: 42124745](https://pubmed.ncbi.nlm.nih.gov/42124745/). *Cureus*. [Review / Meta-Analysis]
Lin LY (2026). [PMID: 40884111](https://pubmed.ncbi.nlm.nih.gov/40884111/). *Semin Ophthalmol*. [Diagnostic / Biomarker]
Fang J (2026). [PMID: 41105201](https://pubmed.ncbi.nlm.nih.gov/41105201/). *Graefes Arch Clin Exp Ophthalmol*. [Epidemiology / Natural History]
Alnuman R (2026). [PMID: 41700357](https://pubmed.ncbi.nlm.nih.gov/41700357/). *Orbit*. [Case Report / Case Series]
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Basic Science / Preclinical]
Mendoza S (2026). [PMID: 40009876](https://pubmed.ncbi.nlm.nih.gov/40009876/). *Retin Cases Brief Rep*. [Case Report / Case Series]
Steinmetz A (2026). [PMID: 39988334](https://pubmed.ncbi.nlm.nih.gov/39988334/). *Vet Ophthalmol*. [Case Report / Case Series]
Sakuma H (2025). [PMID: 39143740](https://pubmed.ncbi.nlm.nih.gov/39143740/). *Dev Med Child Neurol*. [Review / Meta-Analysis]
Garcia-Diez AI (2025). [PMID: 40610162](https://pubmed.ncbi.nlm.nih.gov/40610162/). *Magn Reson Imaging Clin N Am*. [Review / Meta-Analysis]
Cardoso DL (2025). [PMID: 40393099](https://pubmed.ncbi.nlm.nih.gov/40393099/). *Eur J Radiol*. [Review / Meta-Analysis]