Skip to main content
U.S. Department of Health & Human Services
National Institutes of Health
NCATS

COVID-19 is an emerging, rapidly evolving situation.

Get the latest public health information from CDC: https://www.coronavirus.gov (link is external)
Get the latest research information from NIH: https://covid19.nih.gov (link is external)

National Center for Advancing and Translational Sciences National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences
1-888-205-2311
Menu Search
1-888-205-2311
Menu
  • Home
  • Diseases expand submenu for Diseases
    • Browse A-Z
    • Find Diseases By Category expand submenu for Find Diseases By Category
      • Autoimmune / Autoinflammatory diseases
      • Bacterial infections
      • Behavioral and mental disorders
      • Blood Diseases
      • Chromosome Disorders
      • Congenital and Genetic Diseases
      • Connective tissue diseases
      • Digestive Diseases
      • Ear, Nose, and Throat Diseases
      • Endocrine Diseases
      • Environmental Diseases
      • Eye diseases
      • Female Reproductive Diseases
      • Fungal infections
      • Heart Diseases
      • Hereditary Cancer Syndromes
      • Immune System Diseases
      • Kidney and Urinary Diseases
      • Lung Diseases
      • Male Reproductive Diseases
      • Metabolic disorders
      • Mouth Diseases
      • Musculoskeletal Diseases
      • Myelodysplastic Syndromes
      • Nervous System Diseases
      • Newborn Screening
      • Nutritional diseases
      • Parasitic diseases
      • Rare Cancers
      • RDCRN
      • Skin Diseases
      • Viral infections
    • List of FDA Orphan Drugs
    • GARD Information Navigator
    • FAQs About Rare Diseases
  • Guides expand submenu for Guides
    • Patients, Families and Friends expand submenu for Patients, Families and Friends
      • How to Find a Disease Specialist
      • Tips for the Undiagnosed
      • Support for Patients and Families
      • Tips for Finding Financial Aid
      • Help with Travel Costs
      • How to Get Involved in Research
      • FAQs About Chromosome Disorders
      • Medical and Science Glossaries
    • Healthcare Professionals expand submenu for Healthcare Professionals
      • Caring for Your Patient with a Rare Disease
      • ICD Coding for Rare Diseases
      • FindZebra Diagnosis Assist Tool
    • Researchers expand submenu for Researchers
      • Finding Funding Opportunities
    • Teachers and Students expand submenu for Teachers and Students
      • Teaching Resources
  • News expand submenu for News
    • In The Spotlight
    • News Archive
    • Connect with GARD
    • Media Requests
  • About GARD expand submenu for About GARD
    • Contact GARD
    • About GARD
    • Videos
    • Brochures and Publications
  • En Español expand submenu for En Español
    • Enfermedades
    • Contacte GARD
    • Guías de Información expand submenu for Guías de Información
      • Preguntas Más Frecuentes Sobre Enfermedades Raras
      • Como Encontrar un Especialista en su Enfermedad
      • Consejos Para una Condición no Diagnosticada
      • Consejos Para Pacientes y Familias
      • Consejos Para Obtener Ayuda Financiera Para Una Enfermedad
      • Participe en Estudios de Investigación
      • Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos
    • Sobre GARD
  • Home
© Positive Exposure
banner showing people with disabilities and/or their relatives
  1. Home
  2. Diseases
  3. Congenital diaphragmatic hernia
print
  • Table of Contents expand submenu for Table of Contents
    • Summary
    • Symptoms
    • Cause
    • Prognosis
    • Find a Specialist
    • Related Diseases
    • Research
    • Organizations
    • Learn More
    • News & Events
    • GARD Answers
    • References
  • Browse A-Z
  • Find Diseases By Category expand submenu for Find Diseases By Category
    • Autoimmune / Autoinflammatory diseases
    • Bacterial infections
    • Behavioral and mental disorders
    • Blood Diseases
    • Chromosome Disorders
    • Congenital and Genetic Diseases
    • Connective tissue diseases
    • Digestive Diseases
    • Ear, Nose, and Throat Diseases
    • Endocrine Diseases
    • Environmental Diseases
    • Eye diseases
    • Female Reproductive Diseases
    • Fungal infections
    • Heart Diseases
    • Hereditary Cancer Syndromes
    • Immune System Diseases
    • Kidney and Urinary Diseases
    • Lung Diseases
    • Male Reproductive Diseases
    • Metabolic disorders
    • Mouth Diseases
    • Musculoskeletal Diseases
    • Myelodysplastic Syndromes
    • Nervous System Diseases
    • Newborn Screening
    • Nutritional diseases
    • Parasitic diseases
    • Rare Cancers
    • RDCRN
    • Skin Diseases
    • Viral infections
  • List of FDA Orphan Drugs
  • GARD Information Navigator
  • FAQs About Rare Diseases
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Congenital diaphragmatic hernia


Title




Other Names:
CDH; Congenital diaphragmatic defect; Unilateral agenesis of diaphragm; CDH; Congenital diaphragmatic defect; Unilateral agenesis of diaphragm; Agenesis of hemidiaphragm See More
Categories:
Congenital and Genetic Diseases; Digestive Diseases; Lung Diseases

Summary Summary


Listen
Congenital diaphragmatic hernia (CDH) is a condition present before birth characterized by abnormal development of the diaphragm. The diaphragm normally separates the organs in the abdomen from those in the chest. The severity of CDH may range from a thinned area in part of the diaphragm, to its complete absence. CDH may allow the stomach and intestines to move through an opening (hernia) into the chest cavity, crowding the heart and lungs. This can then lead to underdevelopment of the lungs (pulmonary hypoplasia), which may cause life-threatening complications.[1] CDH may be associated with several syndromes (some caused by genetic mutations or a chromosome abnormality), it may be associated with other birth defects, or it may occur with no other abnormalities. It is rarely inherited.[1] Treatment options depend on the type and severity of the defect and typically include surgery.[2] Prenatal diagnosis and medical advances have increased the survival rate, but various long-term complications affecting health and development may occur.[3][4]
Last updated: 3/6/2017

Symptoms Symptoms


Listen

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 9 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Congenital diaphragmatic hernia 0000776
30%-79% of people have these symptoms
Abnormality of cardiovascular system morphology 0030680
Aplasia/Hypoplasia of the diaphragm
Absent/small diaprhagm
Absent/underdeveloped diaprhagm
[ more ]
0010315
Hypoxemia
Low blood oxygen level
0012418
Intestinal malrotation 0002566
Prominent sternum 0000884
Pulmonary hypoplasia
Small lung
Underdeveloped lung
[ more ]
0002089
Respiratory distress
Breathing difficulties
Difficulty breathing
[ more ]
0002098
Percent of people who have these symptoms is not available through HPO
Multifactorial inheritance 0001426
Showing of 9 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Cause Cause


Listen
Congenital diaphragmatic hernia (CDH) can occur as an isolated finding, as part of a genetic syndrome or chromosome abnormality, or with additional birth defects of unknown cause.[5] Some cases have been linked to in utero exposures.[6] In the majority of cases, the cause is not known.[5]
Last updated: 3/7/2017

Prognosis Prognosis


Listen
The long-term outlook (prognosis) for those with congenital diaphragmatic hernia (CDH) depends on a number of factors and is hard to predict. A large defect is more likely to result in pulmonary hypoplasia (underdevelopment of the lungs) and death than a small defect.[6] Other factors associated with decreased survival include:
  • premature birth
  • having a chromosome abnormality or single gene disorder
  • the presence of other severe birth defects such as a heart defect
  • having a right-sided defect or bilateral CDH (on both sides)
  • liver herniation
  • a lower fetal lung volume[5][6][4]

The most serious complication after surgical repair of CDH is  persistent pulmonary hypertension of the newborn (PPHN). Other complications that may occur soon after surgery include hemorrhage, chylothorax, and patch infection.[4]

The postnatal survival rate at tertiary centers (providing specialized care) has improved, with reported rates of 70 to 92 percent. However, these data represent the survival rate of cases that were full-term infants born or transferred to tertiary care centers with available skilled personnel and access to advanced technology.[4]

While reports of normal or near-normal long-term outcomes are increasing, many survivors have long-term complications.[5] These may include chronic respiratory disease, recurrent hernia (abnormal opening) or patch problems, spine or chest wall abnormalities, gastrointestinal difficulties, and neurological impairment.[4]

Last updated: 3/7/2017

Find a Specialist Find a Specialist


Listen

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases


Listen

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
CDH should be differentiated from cystic malformation of the lung.
Visit the Orphanet disease page for more information.

Research Research


Listen

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • ClinicalTrials.gov lists trials that are related to Congenital diaphragmatic hernia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations


Listen

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Birth Defect Research for Children, Inc.
    976 Lake Baldwin Lane, Suite 104
    Orlando, FL 32814
    Telephone: +1-407-895-0802
    E-mail: staff@birthdefects.org
    Website: https://www.birthdefects.org/
  • Breath of Hope: Congenital Diaphragmatic Hernia (CDH) Awareness
    PO Box 6627
    Charlottesville, VA 22906-6627
    Toll-free: 888-264-2340
    E-mail: boh@breathofhopeinc.com
    Website: http://www.breathofhopeinc.com
  • CDH UK
    The Denes, Lynn Road
    Tilney All Saints
    Kings Lynn
    Norfolk
    PE34 4RT
    United Kingdom
    Telephone: 0800 731 6991
    E-mail: committee@cdhuk.org.uk
    Website: http://www.cdhuk.org.uk/
  • CHERUBS
    3650 Rogers Road
    #290
    Wake Forest, NC 27587
    Telephone: 919-610-0129
    Fax: 815-425-9155
    E-mail: info@cdhsupport.org
    Website: http://www.cherubs-cdh.org
Do you know of an organization? We want to hear from you.

Learn More Learn More


Listen

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • Genetics Home Reference (GHR) contains information on Congenital diaphragmatic hernia. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital diaphragmatic hernia. Click on the link to view a sample search on this topic.

News & Events News & Events


Listen

News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


Listen

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Congenital diaphragmatic hernia. Genetics Home Reference. September, 2013; http://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia.
  2. Daniel S Schwartz. Congenital Diaphragmatic Hernias. Medscape Reference. July 29, 2016; http://emedicine.medscape.com/article/426142-overview.
  3. Diaphragmatic hernia. MedlinePlus. April 27, 2015; https://medlineplus.gov/ency/article/001135.htm.
  4. Hedrick HL and Adzick NS. Congenital diaphragmatic hernia in the neonate. UpToDate. Waltham, MA: UpToDate; February, 2017; https://www.uptodate.com/contents/congenital-diaphragmatic-hernia-in-the-neonate.
  5. Barbara R Pober, Meaghan K Russell, and Kate Guernsey Ackerman. Congenital Diaphragmatic Hernia Overview. GeneReviews. March 16, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1359/.
  6. Hedrick HL and Adzick NS. Congenital diaphragmatic hernia: Prenatal diagnosis and management. UpToDate. Waltham, MA: UpToDate; February, 2017;
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

Share this content:

Share this content:

twitter-icon facebook-icon contact-icon link-icons

Copy Link

Link copied to your clipboard.

printer-icon

You May Be Interested In

How to Find a Disease Specialist

How to Find a Disease Specialist

Tips for the Undiagnosed

Tips for the Undiagnosed

Support for Patients and Families

Support for Patients and Families

Tips for Finding Financial Aid

Tips for Finding Financial Aid

Help with Travel Costs

Help with Travel Costs

How to Get Involved in Research

How to Get Involved in Research

FAQs About Chromosome Disorders

FAQs About Chromosome Disorders

Medical and Science Glossaries

Medical and Science Glossaries

Caring for Your Patient with a Rare Disease

Caring for Your Patient with a Rare Disease

ICD Coding for Rare Diseases

ICD Coding for Rare Diseases

FindZebra Diagnosis Assist Tool

FindZebra Diagnosis Assist Tool

Finding Funding Opportunities

Finding Funding Opportunities

Teaching Resources

Teaching Resources

placeholder for the horizontal scroll slider Back to top
GARD Home NCATS Home Site Map Browse Glossary A-Z Privacy Notice Disclaimer Accessibility FOIA OIG

If you have problems viewing PDF files, download the latest version of Adobe Reader

For language access assistance, contact the NCATS Public Information Officer

Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311

contact gard Office of Rare Disease Research Facebook Page Office of Rare Disease Research on Twitter
Listen