exstrophy-epispadias complex
Findings
No curated finding names exstrophy-epispadias complex yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0017919), read 2026-09-29. CC BY 4.0.
Features
40 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abdominal wall defectHPOHP:0010866
- Frequent (30% to 79% of cases)
- Abnormal abdominal wall morphologyHPOHP:0004298
- Frequent (30% to 79% of cases)
- Bladder exstrophyHPOHP:0002836
- Frequent (30% to 79% of cases)
- CystoceleHPOHP:0100645
- Frequent (30% to 79% of cases)
- EpispadiasHPOHP:0000039
- Frequent (30% to 79% of cases)
- Vesicoureteral refluxHPOHP:0000076
- Frequent (30% to 79% of cases)
- Abnormal joint morphologyHPO
Show the remaining 28
- Bifid scrotumHPOHP:0000048
- Occasional (5% to 29% of cases)
- Bifid uterusHPOHP:0000136
- Occasional (5% to 29% of cases)
- Bladder duplicationHPOHP:0025489
- Occasional (5% to 29% of cases)
- Bladder fistulaHPOHP:0004321
- Occasional (5% to 29% of cases)
- Female sexual dysfunctionHPOHP:0030014
- Occasional (5% to 29% of cases)
- Horseshoe kidneyHPOHP:0000085
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
3 names
Resolves to: exstrophy-epispadias complex
- Also called
- EECOEIS complexOEIS syndrome