Join the RareGuru Community
To connect, share, empower and heal today.
Don’t fight Congenital diaphragmatic hernia alone.
Find your community on the free RareGuru App.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: GARD Last updated on 05-01-20
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.
Last updated on 05-01-20
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:
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.
Last updated on 05-01-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!
To connect, share, empower and heal today.