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Disease Profile
Congenital central hypoventilation syndrome
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
Infancy
ICD-10
G47.3
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)
CCHS; Idiopathic congenital central alveolar hypoventilation; Congenital failure of autonomic control;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
CCHS is caused by a variation (
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 | ||
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
5%-29% of people have these symptoms | ||
Aganglionic megacolon |
Enlarged colon lacking nerve cells
|
0002251 |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Ganglioneuroblastoma | 0006747 | |
Ganglioneuroma | 0003005 | |
Muscular |
Low or weak muscle tone
|
0001252 |
0001250 | ||
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of temperature regulation |
Poor temperature regulation
|
0004370 |
Abnormality of the cardiovascular system |
Cardiovascular abnormality
|
0001626 |
Abnormality of the mouth |
Abnormal mouth
|
0000153 |
Apnea | 0002104 | |
0000006 | ||
Central hypoventilation | 0007110 | |
Constipation | 0002019 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Hypercapnia |
High blood carbon dioxide level
|
0012416 |
Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] |
0000975 |
Hypoventilation |
Slow breathing
Under breathing
[ more ] |
0002791 |
Hypoxemia |
Low blood oxygen level
|
0012418 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Treatment
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.
Management Guidelines
- Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
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
-
American Sleep Association
110 W. Ninth Street, Suite 826
Wilmington, DE 19801
Fax: 940-234-3357
E-mail: https://www.sleepassociation.org/index.php?p=contactus
Website: https://www.sleepassociation.org/
Organizations Providing General Support
-
International Foundation for Functional Gastrointestinal Disorders (IFFGD)
3015 Dunes West Blvd. Suite 512
Mount Pleasant, SC 29466
Telephone: +1-414-964-1799
Website: https://iffgd.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
- Genetics Home Reference (GHR) contains information on Congenital central hypoventilation syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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 central hypoventilation syndrome. Click on the link to view a sample search on this topic.
References
- Debra E Weese-Mayer, Mary L Marazita, Casey M Rand, and Elizabeth M Berry-Kravis. Congenital Central Hypoventilation Syndrome. GeneReviews. January 30, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1427/.
- Congenital central hypoventilation syndrome. Genetics Home Reference. September 2008; https://www.ghr.nlm.nih.gov/condition/congenital-central-hypoventilation-syndrome.
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