Rare diseases · Sign or symptom
Congenital diaphragmatic hernia
HP:0000776
What it means
The presence of a hernia of the diaphragm present at birth.
Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period.
Rare diseases that can present with this73
Very common80–99%
9Common30–79%
18- 7q11.23microduplication syndrome
- Beckwith-Wiedemann syndrome
- Congenital unilateral hypoplasia of depressor anguli oris
- Cooper-Jabs syndrome
- Distal 7q11.23 microduplication syndrome
- Distal deletion 15q syndrome
- Donnai-Barrow syndrome
- Limb body wall complex
- Lowry-MacLean syndrome
- Matthew-Wood syndrome
- Neuronal intestinal pseudoobstruction
- PAGOD syndrome
- Schisis association
- SERKAL syndrome
- Thakker-Donnai syndrome
- Trisomy 18 syndrome
- VACTERL/VATER association
- Wolf-Hirschhorn syndrome
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Diaphragmatic hernia
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.