The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Very frequent (present in 80%-99% of cases) |
|
| Multifactorial inheritance | - |
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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.[4]
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.[4]
While reports of normal or near-normal long-term outcomes are increasing, many survivors have long-term complications.[5] These may include chronic respiratory disease, recurrent hernia (abnormal opening) or patch problems, spine or chest wall abnormalities, gastrointestinal difficulties, and neurological impairment.[4]
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
Fifth International Conference on Pediatric Mechanical Circulatory Support Systems and Pediatric Cardiopulmonary Perfusion
Thursday, May 28, 2009 -
Saturday, May 30, 2009
Location: Hilton Anatole,
Dallas,
TX
Description: The main objective of this conference was to focus on the current problems associated with pediatric cardiac patients during and after acute or chronic cardiac support. At this conference, we brought together many distinguished physicians and scientists to define precisely the current problems and to suggest solutions with novel approaches.
Contact: Dr. Frank Evans, NHLBI301-402-2647
Co-funding Institute(s): National Heart, Lung, and Blood Institute
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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
What is the survival rate for a newborn with lung-head ratio > 1.8? My baby was diagnosed with congenital diaphragmatic hernia during 30 weeks of pregnancy. Also, would I need to plan for delivery before 40 weeks? See answer
What environmental factors can cause this? Could it be a toxin breathed in during pregnancy or something you ate or drank? See answer
