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Anatomy and Subtypes: Bochdalek, Morgagni, and Genetics

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Congenital diaphragmatic hernias are classified by their location—such as Bochdalek or Morgagni—and whether they are isolated or tied to a genetic syndrome. Genetic testing like CMA and WES helps doctors understand the cause and predict the baby's long-term outcome.

Key Takeaways

  • • Bochdalek hernias are the most common type of CDH, typically occurring on the back left side of the diaphragm and causing severe respiratory distress at birth.
  • • Morgagni hernias occur in the front of the diaphragm and are less common, sometimes not causing severe symptoms immediately.
  • • About 60% of CDH cases are isolated, meaning there are no other major genetic or structural issues.
  • • Syndromic CDH is associated with conditions like Pallister-Killian or Cornelia de Lange syndrome and requires specialized long-term care.
  • • Genetic tests like Chromosomal Microarray (CMA) and Whole Exome Sequencing (WES) are critical for determining if CDH is isolated or syndromic.

Understanding the specific anatomy and genetic background of your baby’s CDH helps your medical team build a precise care plan. CDH is not a “one-size-fits-all” diagnosis; where the hole is located and whether it is linked to a genetic syndrome are key factors in your baby’s journey.

Anatomical Subtypes: Where is the Hole?

The diaphragm is a large, dome-shaped muscle. Depending on where the opening occurred during development, the hernia is classified into one of three main types:

Bochdalek Hernia (Posterolateral)

This is the most common type of CDH, accounting for the vast majority of cases in newborns [1].

  • Location: It occurs in the back and side of the diaphragm (posterolateral) [1].
  • Side: It is most often found on the left side [1]. When it does occur on the right side, the liver is almost always pushed “up” into the chest, which changes how doctors evaluate the imaging and plan for care.
  • Impact: Because it happens early in development, it is frequently associated with severe respiratory distress at birth because the lungs had less room to grow [1][2].

Morgagni Hernia (Anterior)

This type is much less common and occurs in the front of the diaphragm (anterior) [1].

  • Discovery: Unlike Bochdalek hernias, Morgagni hernias are sometimes diagnosed later in childhood or even adulthood because they may not cause severe symptoms immediately [3][4].

Central CDH

This is a rare form of CDH where the defect is located in the central tendon (the middle part) of the diaphragm rather than the edges.

The Role of Genetic Testing

Because CDH can sometimes be part of a broader genetic syndrome, doctors often recommend two main types of genetic tests:

  1. Chromosomal Microarray (CMA): This test looks for extra or missing pieces of genetic material (called copy number variations) [5][6].
  2. Whole Exome Sequencing (WES): This is a deeper dive that looks at specific “spelling errors” in individual genes [5].

Why Testing Matters

Identifying a genetic cause—such as Pallister-Killian syndrome, Cornelia de Lange syndrome, or Fryns syndrome—is vital because it changes the prognosis (the predicted outcome) [7][8].

  • Isolated CDH: About 60% of cases are “isolated,” meaning no other major genetic or structural issues are found. These babies often have a more straightforward recovery path [9][10].
  • Syndromic CDH: When a syndrome is identified, it may mean the baby faces other challenges, such as heart defects or different neurodevelopmental needs [11][12]. Knowing this early allows your team to bring in the right specialists from the start to provide the best long-term support [13][14].

Frequently Asked Questions

What is the difference between a Bochdalek and a Morgagni hernia?
A Bochdalek hernia occurs in the back and side of the diaphragm and is the most common type of CDH in newborns. A Morgagni hernia happens in the front of the diaphragm and is much less common, sometimes remaining undiagnosed until childhood or adulthood.
Why do doctors recommend genetic testing for a baby with CDH?
Genetic testing helps determine if the hernia is an isolated issue or part of a broader genetic syndrome. Knowing the exact genetic makeup allows the medical team to anticipate other health challenges and build a more precise, long-term care plan.
What does it mean if my baby's CDH is isolated?
Isolated CDH means that the hernia is the only major structural or genetic issue found in your baby. Babies with isolated CDH typically do not have an underlying genetic syndrome, which often leads to a more straightforward recovery path.
What genetic tests are used to evaluate CDH?
Doctors commonly use Chromosomal Microarray (CMA) to look for missing or extra pieces of DNA, and Whole Exome Sequencing (WES) to find specific errors in individual genes. These tests help identify specific underlying syndromes that can affect your child's prognosis.

Questions for Your Doctor

  • • Was my child's diagnosis a Bochdalek, Morgagni, or Central hernia, and how does that affect their surgery?
  • • What specific genetic tests (like CMA or WES) have been performed, and what have we learned from them?
  • • If a genetic syndrome was found, how does that change the long-term care plan for my baby?
  • • Based on the anatomical type of CDH, what is the likelihood of other structural issues, like heart defects?
  • • How do the results of these genetic tests help you predict my child's recovery and neurodevelopment?

Questions for You

  • • Has our care team explained the difference between 'isolated' and 'syndromic' CDH in a way I understand?
  • • What questions do I have about the results of my baby's genetic testing?
  • • Are there other physical features or health concerns my baby has that I should mention to the genetics team?
  • • How am I feeling about the information we've received regarding our child's long-term outlook?

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References

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    Death by late presenting of diaphragmatic hernia in an infant: case report and review of the literature.

    Ben Abderrahim S, Jedidi M, Ben Daly A, et al.

    Egyptian journal of forensic sciences 2022; (12(1)):39 doi:10.1186/s41935-022-00299-x.

    PMID: 36158167
  2. 2

    Management advances for congenital diaphragmatic hernia: integrating prenatal and postnatal perspectives.

    Baschat AA, Desiraju S, Bernier ML, et al.

    Translational pediatrics 2024; (13(4)):643-662 doi:10.21037/tp-23-602.

    PMID: 38715680
  3. 3

    Symptomatic congenital Morgagni hernia presenting as a chest pain: a case report.

    Mohamed M, Al-Hillan A, Shah J, et al.

    Journal of medical case reports 2020; (14(1)):13 doi:10.1186/s13256-019-2336-9.

    PMID: 31952551
  4. 4

    Open Versus Minimally Invasive Morgagni Hernia Repair in Pediatric Surgery: A Review.

    Safari D, Mohajer Z, Ghobadinezhad F, Ashjaei B

    Journal of laparoendoscopic & advanced surgical techniques. Part A 2025; (35(3)):257-265 doi:10.1089/lap.2024.0262.

    PMID: 39882965
  5. 5

    Genetic Diagnosis and Clinical Features of Fetuses With Congenital Diaphragmatic Hernia.

    Lü Y, Yu Y, Chang J, et al.

    Prenatal diagnosis 2025; (45(12)):1651-1659 doi:10.1002/pd.6727.

    PMID: 39681544
  6. 6

    Systematic analysis of copy number variation associated with congenital diaphragmatic hernia.

    Zhu Q, High FA, Zhang C, et al.

    Proceedings of the National Academy of Sciences of the United States of America 2018; (115(20)):5247-5252 doi:10.1073/pnas.1714885115.

    PMID: 29712845
  7. 7

    Congenital diaphragmatic hernia in patient with 1p36 deletion.

    Zihra M, Rehmaan I, Amjed S, et al.

    Clinical case reports 2024; (12(2)):e8502 doi:10.1002/ccr3.8502.

    PMID: 38344352
  8. 8

    Unusual case of delayed congenital diaphragmatic hernia in Loeys-Dietz syndrome: a case report.

    Lobaton GO, Chen YJ, Jelin E, Garcia AV

    Journal of surgical case reports 2021; (2021(1)):rjaa604 doi:10.1093/jscr/rjaa604.

    PMID: 33569167
  9. 9

    Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias.

    Bogenschutz EL, Fox ZD, Farrell A, et al.

    HGG advances 2020; (1(1)) doi:10.1016/j.xhgg.2020.100008.

    PMID: 33263113
  10. 10

    Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing.

    Kammoun M, Souche E, Brady P, et al.

    Prenatal diagnosis 2018; (38(9)):654-663 doi:10.1002/pd.5327.

    PMID: 29966037
  11. 11

    Neurodevelopmental impairment in children with congenital diaphragmatic hernia: Not an uncommon complication for survivors.

    Montalva L, Raffler G, Riccio A, et al.

    Journal of pediatric surgery 2020; (55(4)):625-634 doi:10.1016/j.jpedsurg.2019.05.021.

    PMID: 31227219
  12. 12

    Genetics of diaphragmatic hernia.

    Schreiner Y, Schaible T, Rafat N

    European journal of human genetics : EJHG 2021; (29(12)):1729-1733 doi:10.1038/s41431-021-00972-0.

    PMID: 34621023
  13. 13

    Congenital Diaphragmatic Hernia: Considerations for the Adult General Surgeon.

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    The Surgical clinics of North America 2022; (102(5)):739-757 doi:10.1016/j.suc.2022.07.007.

    PMID: 36209743
  14. 14

    Increased risk of clinically relevant neurodevelopmental disorders in survivors of congenital diaphragmatic hernia: a population-based study.

    Kutasy B, Skoglund C, Löf-Granström A, et al.

    Pediatric surgery international 2024; (40(1)):304 doi:10.1007/s00383-024-05871-1.

    PMID: 39528855

This page provides educational information about CDH subtypes and genetics. Always consult your pediatric surgeon and genetic counselor for medical advice tailored to your baby's specific diagnosis.

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