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Congenital diaphragmatic hernia (CDH) is defined in the MONDO ontology as a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax. The packet certifies no associated genes, no inheritance pattern, and no onset category, and prevalence is listed as unknown. Disease subtypes are present in the packet, including diaphragmatic hernia 1, 2, 3, and 4 (the last with cardiovascular defects) and anterior diaphragmatic hernia.
No phenotype annotations are certified in this packet. The MONDO definition describes the condition as leading to respiratory insufficiency and persistent pulmonary hypertension. Further clinical description is not certified here.
Data assembled from 4 of 12 sources · Last updated Nov 4, 2026, 6:00 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
The genetic basis, mechanism, and inheritance of this condition are not certified in this packet. No genes are listed, and no statement about causes beyond the structural description of the diaphragmatic defect in the definition is supported here.
Diagnostic methods, imaging findings, and newborn screening information are not certified in this packet.
Treatment coverage, including foundational therapies, approved treatments, and management guidance, is not certified in this packet. No approved treatment records are present.
44 trials found
Natural history and prognosis are not certified in this packet. The MONDO definition characterizes the condition as carrying high mortality, and no further outcome information is supplied.
Certified active trial records are numerous for congenital diaphragmatic hernia. Examples in the packet include NCT06739356, a North American Fetal Therapy Network study of long-term outcomes following fetoscopic endoluminal tracheal occlusion in severe left and right congenital diaphragmatic hernia (recruiting, sponsor The University of Texas Health Science Center, Houston); NCT02596802, a study titled Fetoscopic Endoluminal Tracheal Occlusion (FETO) for Congenital Diaphragm Hernia (active not recruiting, sponsor Anthony Johnson); NCT06884423, titled Safety and Efficacy of FETO in CDH: A Phase III Trial (recruiting, sponsor Holly L Hedrick, MD); NCT07767825, a pilot trial of FETO in fetuses with severe CDH (not yet recruiting, NYU Langone Health); and NCT05213676, titled De-implementing Inhaled Nitric Oxide for Congenital Diaphragmatic Hernia (Phase 4, recruiting, The University of Texas Health Science Center, Houston). Record titles do not establish what an intervention does. Active clinical trials for this condition are listed on ClinicalTrials.gov.
AI-curated news mentioning congenital diaphragmatic hernia
Updated Sep 12, 2026
A recent study highlights alterations in endothelial cell bioenergetics associated with congenital diaphragmatic hernia. This research could provide insights into the underlying mechanisms of the disease and potential therapeutic targets.
A case report highlights a rare complication of severe delayed diaphragmatic hernia with total gastric migration following cytoreductive surgery. This finding contributes to the understanding of post-surgical complications in rare disease contexts.