A posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.
Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
The limited documentation surrounding congenital diaphragmatic hernia is primarily due to its rarity, which affects fewer than 1 in 2,500 live births. This rarity results in fewer systematic clinical studies and comprehensive characterizations of the condition. Additionally, the genetic basis is still being explored, contributing to the gaps in understanding.
To navigate congenital diaphragmatic hernia, consider consulting a pediatric surgeon or a specialist in congenital anomalies. Genetic counseling may also be beneficial given the involvement of genetic factors. You can find resources through the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Additionally, inquire about participation in clinical trials, which may provide access to cutting-edge therapies and contribute to the understanding of this condition.
There are currently 42 active clinical trials investigating various aspects of congenital diaphragmatic hernia. These trials may explore new treatment options, surgical techniques, and management strategies. For more information on specific trials and participation opportunities, you can visit ClinicalTrials.gov and search for 'congenital diaphragmatic hernia'.
Actionable guidance for navigating care for congenital diaphragmatic hernia
To navigate congenital diaphragmatic hernia, consider consulting a pediatric surgeon or a specialist in congenital anomalies. Genetic counseling may also be beneficial given the involvement of genetic factors. You can find resources through the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Additionally, inquire about participation in clinical trials, which may provide access to cutting-edge therapies and contribute to the understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.