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epignathus - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

epignathus

MONDO:0015386

Also known as:epignathus (disease)oropharyngeal teratoma

Overview

Epignathus is a very rare and life threatening intraoral teratoma, usually arising from the maxilla, mandible, palate or base of skull and invading the cranium, nasopharynx or oral cavity. Epignathus is more commonly seen in females, and presents with various manifestations (depending on the tumor size) including obstructive polyhydramnios in the prenatal period and dyspnea, cyanosis, cough, difficulty in sucking and swallowing, and rarely vomiting (due to swallowing difficulties) postnatally. When large, they can lead to airway obstruction, asphyxia and death in the neonatal period.

Diagnosis

Biomarker and diagnostic research for epignathus has been reported in the published literature.

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 epignathus.

20 publications have been identified in PubMed for epignathus. Research spans Case Report / Case Series (70%), Review / Meta-Analysis (20%), and Other (5%).

Research Type	Count	% of Total
Patient case studies	14	70%
Research summaries

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 11:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:141077

GARD

Genetic and Rare Diseases Info Center

GARD:19943

Questions for Your Care Team

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epignathus

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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