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exstrophy-epispadias complex (EEC) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

exstrophy-epispadias complex

MONDO:0017919

Also known as:EECOEIS complexOEIS syndrome

Overview

A spectrum of genitourinary malformations ranging in severity from epispadias (E) and classical bladder exstrophy (CEB) to exstrophy of the cloaca (EC) as the most severe form. Depending on severity, the EEC may involve the urinary system, the musculoskeletal system, the pelvis, the pelvic floor, the abdominal wall, the genitalia and sometimes the spine and the anus.

GeneticsSporadic (not inherited)

TreatmentsNo approved treatments · 1 in pipeline

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 common findings: Vesicoureteral reflux, Abnormal abdominal wall morphology, Abdominal wall defect, and Cystocele; and sometimes findings: Urinary incontinence, Inguinal hernia, Bifid scrotum, and Renal duplication and others. 64 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	9	Pelvic kidney, Renal agenesis, Urinary incontinence

Diagnosis

Biomarker and diagnostic research for exstrophy-epispadias complex has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for exstrophy-epispadias complex. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for exstrophy-epispadias complex, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for exstrophy-epispadias complex. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

Prognosis

Phenotype severity distribution: 4 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 exstrophy-epispadias complex.

64 publications have been identified in PubMed for exstrophy-epispadias complex. Research spans Review / Meta-Analysis (23%), Case Report / Case Series (23%), and Clinical Trial Publication (19%).

Research Type	Count	% of Total
Research summaries	15	23%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:258040

Orphanet

European rare disease database

Orphanet:322

GARD

Genetic and Rare Diseases Info Center

GARD:2207

Questions for Your Care Team

→What is the current development status of Primary Human Satellite cell-derived muscle stem cells, and when might it become available?
→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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Kisho

exstrophy-epispadias complex

Overview

Clinical Presentation

Diagnosis

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications

exstrophy-epispadias complex

Overview

Clinical Presentation

Diagnosis

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications