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oculodental syndrome, Rutherfurd type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

oculodental syndrome, Rutherfurd type

MONDO:0008396

Also known as:Rutherfurd syndromecorneal dystrophy with gum Hypertrophygingival Hypertrophy with corneal dystrophy

Overview

Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.

GeneticsAutosomal dominant

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: Gingival fibromatosis, Gingival overgrowth, and Delayed eruption of teeth; and common findings: Visual impairment, Impaired mastication, Abnormal dental morphology, and Cloudy or opaque cornea (corneal opacity). 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	4	Opacification of the corneal stroma, Clouding of the cornea (corneal dystrophy), Visual impairment

Prognosis

Phenotype severity distribution: 3 very common features, 4 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 oculodental syndrome, Rutherfurd type.

1 publication has been identified in PubMed for oculodental syndrome, Rutherfurd type. Research spans Review / Meta-Analysis (100%).

Recent Publications

Chen J (2024). [PMID: 39027997](https://pubmed.ncbi.nlm.nih.gov/39027997/). *Mol Med Rep*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:26 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:180900

Orphanet

European rare disease database

Orphanet:2709

GARD

Genetic and Rare Diseases Info Center

GARD:212

Questions for Your Care Team

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oculodental syndrome, Rutherfurd type

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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