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Disease Profile
Congenital diaphragmatic hernia
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Neonatal
ICD-10
Q79.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
CDH; Congenital diaphragmatic defect; Unilateral agenesis of diaphragm;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Lung Diseases
Summary
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
0000776 | ||
30%-79% of people have these symptoms | ||
Abnormality of cardiovascular system morphology | 0030680 | |
Aplasia/Hypoplasia of the diaphragm |
Absent/small diaprhagm
Absent/underdeveloped diaprhagm
[ more ] |
0010315 |
Hypoxemia |
Low blood oxygen level
|
0012418 |
Intestinal malrotation | 0002566 | |
Prominent sternum | 0000884 | |
Pulmonary hypoplasia |
Small lung
Underdeveloped lung
[ more ] |
0002089 |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
Percent of people who have these symptoms is not available through HPO | ||
Multifactorial inheritance | 0001426 |
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
CDH should be differentiated from cystic malformation of the lung.
Visit the Orphanet disease page for more information.
|
Organizations
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.
Organizations Supporting this Disease
-
Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane, Suite 104
Orlando, FL 32814
Telephone: +1-407-895-0802
E-mail: [email protected]
Website: https://www.birthdefects.org/ -
Breath of Hope: Congenital Diaphragmatic Hernia (CDH) Awareness
PO Box 6627
Charlottesville, VA 22906-6627
Toll-free: 888-264-2340
E-mail: [email protected]
Website: https://www.breathofhopeinc.com -
CDH UK
The Denes, Lynn Road
Tilney All Saints
Kings Lynn
Norfolk
PE34 4RT
United Kingdom
Telephone: 0800 731 6991
E-mail: [email protected]
Website: https://www.cdhuk.org.uk/ -
CHERUBS
3650 Rogers Road
#290
Wake Forest, NC 27587
Telephone: 919-610-0129
Fax: 815-425-9155
E-mail: [email protected]
Website: https://www.cherubs-cdh.org
Learn more
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.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Congenital diaphragmatic hernia. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital diaphragmatic hernia. Click on the link to view a sample search on this topic.
References
- Congenital diaphragmatic hernia. Genetics Home Reference. September, 2013; https://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia.
- Daniel S Schwartz. Congenital Diaphragmatic Hernias. Medscape Reference. July 29, 2016; https://emedicine.medscape.com/article/426142-overview.
- Diaphragmatic hernia. MedlinePlus. April 27, 2015; https://medlineplus.gov/ency/article/001135.htm.
- Hedrick HL and Adzick NS. Congenital diaphragmatic hernia in the neonate. UpToDate. Waltham, MA: UpToDate; February, 2017; https://www.uptodate.com/contents/congenital-diaphragmatic-hernia-in-the-neonate.
- Barbara R Pober, Meaghan K Russell, and Kate Guernsey Ackerman. Congenital Diaphragmatic Hernia Overview. GeneReviews. March 16, 2010; https://www.ncbi.nlm.nih.gov/books/NBK1359/.
- Hedrick HL and Adzick NS. Congenital diaphragmatic hernia: Prenatal diagnosis and management. UpToDate. Waltham, MA: UpToDate; February, 2017;
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