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oculootodental syndrome (OOD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oculootodental syndrome

MONDO:0020494

Also known as:OOD

Overview

Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.

ResearchLimited published research (2 articles)

Prognosis

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 oculootodental syndrome.

2 publications have been identified in PubMed for oculootodental syndrome. Research spans Case Report / Case Series (100%).

Recent Publications

Rahi H (2025). [PMID: 39976283](https://pubmed.ncbi.nlm.nih.gov/39976283/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Souza DAS (2024). [PMID: 38905602](https://pubmed.ncbi.nlm.nih.gov/38905602/). *General dentistry*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:99806

GARD

Genetic and Rare Diseases Info Center

GARD:16910

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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oculootodental syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team