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Lung diseases

Congenital diaphragmatic hernia (CDH)

An opening that forms in the baby's diaphragm while in the womb. Abdominal organs move into the chest. The lungs cannot develop enough.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Orphanet has a guideline for emergency doctors for this disease (language: French). See on Orphanet

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Lung diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

The diaphragm is the muscle that separates the chest from the abdomen and helps with breathing. If the diaphragm does not fully develop while the baby is in the womb, an opening is left. Organs such as the stomach and intestines move into the chest. The lungs are squeezed and stay small. Because of this, there can be serious breathing problems at birth.

Which symptoms can occur?

Symptoms usually begin right after birth.

  • Severe breathing difficulty at birth (common)
  • Fast breathing
  • Fast heartbeat
  • Bluish skin
  • An abdomen that looks flatter than normal
  • Breathing problems or abdominal pain at a later age (in 5–10 in 100)

How is it diagnosed?

It is often seen on ultrasound during pregnancy. After birth, an examination and a chest X-ray confirm the diagnosis. Other developmental problems are also looked for.

Treatment and care

The opening is repaired with surgery. The organs are placed back in the abdomen. The baby receives breathing support before and after surgery. Some babies need a heart-lung machine. The outcome depends largely on how well the lungs have developed. After going home, breathing, feeding and growth are followed up regularly. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

A diaphragmatic hernia that occurs on its own is rarely inherited. In most families, only one child is affected. Sometimes it is part of a syndrome or a chromosome difference. In that case, the chance of it happening again in the family depends on that condition. Genetic counselling is recommended.

Source: MedlinePlus Genetics: Congenital diaphragmatic hernia · MedlinePlus: Diaphragmatic hernia · Orphanet: Congenital diaphragmatic hernia (ORPHA:2140)

Key facts

When does it usually start?
Newborn period
Gene(s) involved
ZFPM2, GATA6, LONP1

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Diaphragmatic hernia

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 34 active interventional studies for this disease. 24 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Lung diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:2140 · ICD-11 LB00.0

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.