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odontomatosis-aortae esophagus stenosis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

odontomatosis-aortae esophagus stenosis syndrome

MONDO:0008118

Also known as:boder syndromeOdontomatosis (multiple odontomas) with dysphagiaodontoma dysphagia syndrome

Overview

Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.

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: Hepatic failure, Difficulty swallowing (dysphagia), Atherosclerosis, and Odontoma; and sometimes findings: Myocarditis and Abnormal cardiovascular system morphology.

Organ System	Phenotype Count	Example Features
Digestive system	2	Hepatic failure, Difficulty swallowing (dysphagia)

Diagnosis

Biomarker and diagnostic research for odontomatosis-aortae esophagus stenosis syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 very 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 odontomatosis-aortae esophagus stenosis syndrome.

30 publications have been identified in PubMed for odontomatosis-aortae esophagus stenosis syndrome. Research spans Case Report / Case Series (53%), Review / Meta-Analysis (13%), and Clinical Trial Publication (13%).

Research Type	Count	% of Total
Patient case studies	16	53%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:31 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:164330

Orphanet

European rare disease database

Orphanet:2724

GARD

Genetic and Rare Diseases Info Center

GARD:238

Questions for Your Care Team

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Kisho

odontomatosis-aortae esophagus stenosis syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

odontomatosis-aortae esophagus stenosis syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications