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pericardial and diaphragmatic defect - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pericardial and diaphragmatic defect

MONDO:0017301

Overview

Pericardial and diaphragmatic defect is a rare combination of absent pericardium with congenital diaphragmatic defect.

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 always present findings: Aplasia of the left hemidiaphragm and Partial diaphragmatic absence of pericardium; and common findings: Pulmonary hypoplasia, Neonatal respiratory distress, and Low blood oxygen levels (hypoxemia). 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	6	Partial diaphragmatic absence of pericardium, Abnormal heart morphology, Atrial septal defect

Prognosis

Phenotype severity distribution: 2 always present features, 3 common features.

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 pericardial and diaphragmatic defect.

35 publications have been identified in PubMed for pericardial and diaphragmatic defect. Research spans Case Report / Case Series (79%), Review / Meta-Analysis (12%), and Clinical Trial Publication (6%).

Research Type	Count	% of Total
Patient case studies	27	79%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 1:39 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2847

GARD

Genetic and Rare Diseases Info Center

GARD:18780

Questions for Your Care Team

→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

pericardial and diaphragmatic defect

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

pericardial and diaphragmatic defect

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications