Diaphragmatic Hernia


Condition Description

Diaphragmatic hernia is a congenital opening in the diaphragm with herniation of abdominal contents into the chest cavity. The diaphragm is a large dome-shaped muscle that separates the chest from the abdominal cavity. The diaphragm moves up and down during respirations to assist with lung expansion and compression.

The cause of a diaphragmatic hernia is unknown. Early in fetal life (in about the 6th week) the cells that form the diaphragm fail to fuse and thus the kidney, stomach and intestines can shift from the abdomen into the chest. This usually occur on the left side of the chest and will cause under-development of the left lung as well as decreased growth of the right lung because of the displacement of the heart to the right (called dextrocardia). Breath sounds are decreased on the left and the heart sounds are heard on the right side of the chest. Babies with a diaphragmatic hernia can have a flat abdomen because some of the organs are within the chest cavity. Babies will have severe respiratory difficulties very soon after birth because the lungs are not able to function properly.


Diaphragmatic hernia occurs in 1 of 2000-5000 live births, and 80-90% are on the left side of the chest. Boys are more likely to be affected. There is a 2% chance of a subsequent child being born with the defect.

Common Associated Conditions

Congenital diaphragmatic hernia may occur as a part of Fryns syndrome, an autosomal recessive disorder with variable features, including cleft lip or palate, and malformation of fingers and toes.

Short-term Treatment and Outcomes

Babies with diaphragmatic hernia are extremely ill and require immediate mechanical ventilation to breathe and surgery to repair the defect. The repair involves placing the organs in the abdominal cavity and closing the opening in the diaphragm. This does not guarantee recovery, however, because the baby's lungs will be small and under-developed. If diagnosed early in pregnancy, fetal surgery may be considered, but this is done in only at a very few medical centers. ECMO (extracorporeal membrane oxygenation), a heart-lung bypass machine may be used for a few days to oxygenate the baby's blood and allow the lungs to expand and begin to grow. Babies will need prolonged care in a neonatal intensive care unit with maximal nutrition and care in order to heal the surgical wound and for the lung tissue to grow.

Long-Term Treatment and Outcomes

Due to prenatal diagnosis and prompt post-natal care and surgery, 80% of babies with diaphragmatic hernias survive. Lung tissue can develop during infancy if nutrition is adequate and complications do not occur.

Common Complications

Complications include persistent pulmonary hypertension, recurrent lung infections and gastrointestinal problems.

Implications for Children's Development

Many babies with diaphragmatic hernias are surviving and doing very well if they were born at a major medical center with neonatal intensive care and pediatric surgery facilities. Their hospitalization and time on a ventilator might be quite long, and parents need to be supported to be with the baby and to provide the care to the baby in as many ways as possible. Good nutrition will help the baby to grow and heal and make gains in development. Babies can respond well to help from early intervention therapy programs once their health is stable and can catch up remarkably in their development and growth.

For more information, including resources for parents and general information about diaphragmatic hernia, visit the following websites: