Living with Congenital diaphragmatic hernia
A condition present from birth in which a gap in the diaphragm lets organs move into the chest and crowd the lungs.
Understanding Congenital diaphragmatic hernia
The diaphragm may be thin in a spot or absent. The opening lets the stomach and intestines move into the chest and crowd the heart and lungs, which can leave the lungs underdeveloped. In 5 to 10 percent of people, signs appear later, and in about 1 percent there are no symptoms at all.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Breathing difficulties
- Underdeveloped lungs (pulmonary hypoplasia)
- Low blood oxygen
- Thin or missing diaphragm
- Intestinal malrotation
- Abdominal pain in later-onset cases
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include heart and blood vessel specialists and lung and breathing specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
CDH International and Fetal Health Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Heart and blood vessel specialists (cardiologists); Lung and breathing specialists (pulmonologists)
- Expert care
- Expert lists: CDH International, Fetal Health Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CDH International and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD describes abnormal development of the diaphragm before birth, and doesn't list a specific gene or inheritance pattern.
Also known as: agenesis of hemidiaphragm; cdh; cdh - congenital diaphragmatic hernia; congenital diaphragmatic defect; diaphragmatic hernia; dih
Patient organizations
- CDH InternationalCongenital diaphragmatic hernia · United States
- Fetal Health FoundationCongenital diaphragmatic hernia · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital diaphragmatic hernia.
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