cloacal exstrophy
MONDO:0009774Mondo
Findings
No curated finding names cloacal exstrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A major birth defect representing the severe end of the spectrum of the exstrophy-epispadias complex (EEC) characterized by omphalocele, exstrophy, imperforate anus and spinal defects (also referred to as the OEIS complex), often associated with other malformations.
Definition from the Mondo Disease Ontology (MONDO:0009774), read 2026-09-29. CC BY 4.0.
Features
24 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.
- Abnormal clitoris morphologyHPOHP:0000056
- Very frequent (80% to 99% of cases)
- Bladder exstrophyHPOHP:0002836
- Very frequent (80% to 99% of cases)
- Cloacal exstrophyHPOHP:0010475
- Very frequent (80% to 99% of cases)
- Hypoplasia of penisHPOHP:0008736
- Very frequent (80% to 99% of cases)
- OmphaloceleHPOHP:0001539
- Very frequent (80% to 99% of cases)
- Vesicoureteral refluxHPOHP:0000076
- Very frequent (80% to 99% of cases)
- Abnormal fibula morphologyHPOHP:0002991
- Frequent (30% to 79% of cases)
- Abnormal tibia morphologyHPOHP:0002992
- Frequent (30% to 79% of cases)
- Absent footHPOHP:0011301
- Frequent (30% to 79% of cases)
- Anal atresiaHPOHP:0002023
- Frequent (30% to 79% of cases)
- HemivertebraeHPOHP:0002937
- Frequent (30% to 79% of cases)
- Hip dislocationHPOHP:0002827
- Frequent (30% to 79% of cases)
Show the remaining 12
- Intestinal duplicationHPOHP:0100668
- Frequent (30% to 79% of cases)
- Intestinal malrotationHPOHP:0002566
- Frequent (30% to 79% of cases)
- MyelomeningoceleHPOHP:0002475
- Frequent (30% to 79% of cases)
- Spina bifidaHPOHP:0002414
- Frequent (30% to 79% of cases)
- Talipes equinovarusHPOHP:0001762
- Frequent (30% to 79% of cases)
- Abnormal fallopian tube morphologyHPOHP:0011027
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: cloacal exstrophy
- Also called
- cloacal exstrophy (disease)omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome