Rare Rheumatology News

Disease Profile

Congenital diaphragmatic hernia

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset





Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

CDH; Congenital diaphragmatic defect; Unilateral agenesis of diaphragm;


Congenital and Genetic Diseases; Digestive Diseases; Lung Diseases


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]


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.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Congenital diaphragmatic hernia
30%-79% of people have these symptoms
Abnormality of cardiovascular system morphology
Aplasia/Hypoplasia of the diaphragm
Absent/small diaprhagm
Absent/underdeveloped diaprhagm

[ more ]

Low blood oxygen level
Intestinal malrotation
Prominent sternum
Pulmonary hypoplasia
Small lung
Underdeveloped lung

[ more ]

Respiratory distress
Breathing difficulties
Difficulty breathing

[ more ]

Percent of people who have these symptoms is not available through HPO
Multifactorial inheritance


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]


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

    Learn more

    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.


        1. Congenital diaphragmatic hernia. Genetics Home Reference. September, 2013; https://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia.
        2. Daniel S Schwartz. Congenital Diaphragmatic Hernias. Medscape Reference. July 29, 2016; https://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; https://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;

        Rare Rheumatology News