pericardial and diaphragmatic defect

ORPHA: 2847

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

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

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with pericardial and diaphragmatic defect, sourced from HPO and Orphanet clinical annotations.

Aplasia of the left hemidiaphragmPartial diaphragmatic absence of pericardiumPulmonary hypoplasiaNeonatal respiratory distressHypoxemiaAbnormal sternum morphologyPectus excavatumCongenital diaphragmatic herniaAbnormal heart morphologyAtrial septal defectTetralogy of FallotPatent ductus arteriosusBicuspid aortic valveMitral stenosisPalpitationsMeckel diverticulumIntestinal malrotationAbnormal gastrointestinal tract morphologyPulmonary sequestrationChest pain

Classification & Codes

Orphanet Code

ORPHA:2847

pericardial and diaphragmatic defect

Orphanet	`ORPHA:2847`
Treatments	0 drug(s)
Symptoms on record	20 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO