What are the other Names for this Condition? (Also known as/Synonyms)

• Agenesis of Hemidiaphragm 
• Congenital Diaphragmatic Defect
• Unilateral Agenesis of Diaphragm

What is Congenital Diaphragmatic Hernia? (Definition/Background Information)

• 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
• 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
• Treatment options depend on the type and severity of the defect and typically include surgery
• Prenatal diagnosis and medical advances have increased the survival rate, but various long-term complications affecting health and development may occur

(Source: Congenital Diaphragmatic Hernia; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Congenital Diaphragmatic Hernia? (Age and Sex Distribution)

• Congenital Diaphragmatic Hernia is a rare congenital disorder. The presentation of symptoms are seen at or even before birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Congenital Diaphragmatic Hernia? (Predisposing Factors)

• A positive family history may be an important risk factor, since Congenital Diaphragmatic Hernia can be rarely inherited
• 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

(Source: Congenital Diaphragmatic Hernia; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Congenital Diaphragmatic Hernia? (Etiology)

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.

• Some cases have been linked to in utero exposures
• In the majority of cases, the cause is not known

(Source: Congenital Diaphragmatic Hernia; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

What are the Signs and Symptoms of Congenital Diaphragmatic Hernia?

The signs and symptoms of Congenital Diaphragmatic Hernia may include: (Very frequently present symptoms in 80-99% of the cases)

• Congenital Diaphragmatic Hernia
• Underdevelopment of the lungs (pulmonary hypoplasia)

(Source: Congenital Diaphragmatic Hernia; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Congenital Diaphragmatic Hernia Diagnosed?

Congenital Diaphragmatic Hernia is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Congenital Diaphragmatic Hernia?

The complications of Congenital Diaphragmatic Hernia may include:

• Severe respiratory complications
• Complications of associated syndromes (if any)

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Congenital Diaphragmatic Hernia Treated?

• The treatment options for Congenital Diaphragmatic Hernia depend on the type and severity of the defect and typically include surgery
• Prenatal diagnosis and medical advances have increased the survival rate, but various long-term complications affecting health and development may occur

(Source: Congenital Diaphragmatic Hernia; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Congenital Diaphragmatic Hernia be Prevented?

• Currently, Congenital Diaphragmatic Hernia may not be preventable, since the cause of the disorder is unknown
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Congenital Diaphragmatic Hernia? (Outcomes/Resolutions)  

• 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. 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
• 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
• 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

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

(Source: Congenital Diaphragmatic Hernia; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Additional and Relevant Useful Information for Congenital Diaphragmatic Hernia:

Congenital Diaphragmatic Hernia may also be known as: CDH (Congenital Diaphragmatic Hernia)

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/