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

Rare Disease

epispadias

MONDO:0019759

Also known as:epispadias (disease)

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Overview

Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra.

Clinical Trials1 registered

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: Epispadias and Displacement of the urethral meatus; and common findings: Urinary incontinence, Vesicoureteral reflux, and Abnormal pelvic girdle bone morphology. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	1	Urinary incontinence

Prognosis

Phenotype severity distribution: 2 very common features, 3 common features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

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.

1 clinical trial registered. Interventions under study include other interventions and biologic therapy. Pipeline includes 1 PHASE1. Research is primarily sponsored by academic and government institutions.

108 publications have been identified in PubMed for epispadias. Research spans Case Report / Case Series (31%), Clinical Trial Publication (19%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Patient case studies	34

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:10 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:93928

GARD

Genetic and Rare Diseases Info Center

GARD:19235

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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epispadias

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

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epispadias

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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