pentalogy of Cantrell
Findings
No curated finding names pentalogy of Cantrell yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.
Definition from the Mondo Disease Ontology (MONDO:0010742), read 2026-09-29. CC BY 4.0.
Features
25 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 cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- Abnormal pericardium morphologyHPOHP:0001697
- Very frequent (80% to 99% of cases)
- Abnormal sternum morphologyHPOHP:0000766
- Very frequent (80% to 99% of cases)
- Congenital diaphragmatic herniaHPOHP:0000776
- Very frequent (80% to 99% of cases)
- OmphaloceleHPOHP:0001539
- Very frequent (80% to 99% of cases)
- Ventricular septal defectHPOHP:0001629
- Very frequent (80% to 99% of cases)
Show the remaining 13
- Cleft palateHPOHP:0000175
- Occasional (5% to 29% of cases)
- EncephaloceleHPOHP:0002084
- Occasional (5% to 29% of cases)
- HydrocephalusHPOHP:0000238
- Occasional (5% to 29% of cases)
- HypospadiasHPOHP:0000047
- Occasional (5% to 29% of cases)
- Non-midline cleft of the upper lipHPOHP:0100335
- Occasional (5% to 29% of cases)
- Orofacial cleftHPOHP:0000202
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: pentalogy of Cantrell
- Also called
- Cantrell deformityCantrell syndromethoraco-abdominal syndrome