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pentalogy of Cantrell - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pentalogy of Cantrell

MONDO:0010742

Also known as:Cantrell deformityCantrell syndromethoraco-abdominal syndrome

Overview

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.

GeneticsX-linked

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: Ectopia cordis, Cleft palate, Anencephaly, and Pulmonary hypoplasia and 10 more.

Organ System	Phenotype Count	Example Features
Head and neck	2	Cleft palate, Cleft upper lip
Lungs and breathing

Diagnosis

Biomarker and diagnostic research for pentalogy of Cantrell has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 pentalogy of Cantrell.

34 publications have been identified in PubMed for pentalogy of Cantrell. Research spans Case Report / Case Series (76%), Other (15%), and Diagnostic / Biomarker (3%).

Research Type	Count	% of Total
Patient case studies	26	76%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:02 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:313850

Orphanet

European rare disease database

Orphanet:1335

GARD

Genetic and Rare Diseases Info Center

GARD:7359

Questions for Your Care Team

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pentalogy of Cantrell

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

pentalogy of Cantrell

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications