Inheritance of Hernias

Is it a random event or intertwined with genetics?

What is a Hernia?

A hernia is when organ and or fat tissue are compressed through a thin opening or hole created in the connective tissue or muscle.

They most commonly occur around the belly button, the inner groin for guys (inguinal), and the out groin (femoral), or following surgury by the site of incision as this makes the muscle layer thinner (incisional).

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Hernia: animation

From the National Health Service

Genetic factors contributing to congenital diaphragmatic hernias

Teratogenic (fetal) factors are being examined in multi gene mutations that may cause CDH through anatomic construction of the body to have weaker points. The study I found used Fluorescence in situ hybridization (FISH) which basically means they die probes in order to highlight DNA sequences for identification. They began to narrow the search toward lung development however this was only a preliminary study and did not go into more detail.


Tibboel, D. G. 1996. Etiologic and genetic factors in congenital diaphragmatic hernia. Department of Paediatric Surgery, Sophia Children's Hospital, Rotterdam, Netherlands. (sorry it wont let me reverse indent for the citation)

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Image of FISH technique under a microscope

More on genetics and hernias

1 in every 3000 live births shows an incidence of CDH, making it a common birth defect. That means with the current 324,746,732 people recorded in the US about 108,249 have some form of CDH. ( Posterolateral hernias are the most common which make up 90% of the cases. The study shows that there may be a link to abnormal human diaphragm development between 4-12 weeks of gestation. A new theory for the development of the diaphragm is under investigation, looking at if it develops from 4 different parts or one part leads into the growth of another. (the septum, pleuroperitoneal folds, posterolateral section, and dorsal)

Chormosomal differences have been seen in most cases of CDH using FISH to identify them. Trisomy 13,18, 21 and 45 are the most common form of anomaly for patients, this could mean deletion, duplication, inversion or translation of the chromosomes related to CDH.

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Future research could look into possibilities to repair, exclude (for duplicates), or replace defective chromosomes related to CDH.

The above article is taken from The world meter for the US population and this article for the rest of the information.

Holder, A.M. M. Klassens, D. Tibboel, A. de Klein, B. Lee, (2007) Genetic Factors in Congenital Diaphragmatic Hernia. American Journal of Human Genetics. 80:825-845.

Congenital Diaphragmatic Hernia Action Day

Tuesday, April 19th 2016 at 9pm

This is an online event.

Feel free to donate to the cause at:

This year is the second annual Hernia day on April 19th

They are having marches in DC as well if you are over there around this time.

American Hernia Society

For more information feel free to check out:

Below is my own information as well.