Congenital Central Hypoventilation Syndrome

Common Name(s)

Congenital Central Hypoventilation Syndrome

Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system that causes individuals to hypoventilate (especially during sleep), resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Symptoms usually begin shortly after birth; affected infants hypoventilate upon falling asleep and exhibit a bluish appearance of the skin or lips (cyanosis). Other features may include difficulty regulating heart rate and blood pressure; decreased perception of pain; low body temperature; occasional episodes of profuse sweating; Hirschsprung disease; learning difficulties; eye abnormalities; and a characteristic appearance with a short, wide, somewhat flattened face. It is caused by mutations in the PHOX2B gene and is inherited in an autosomal dominant manner, but over 90 percent of cases result from new mutations and occur in people with no history of the disorder in their family. Treatment typically includes mechanical ventilation or use of a diaphragm pacemaker.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Central Hypoventilation Syndrome" for support, advocacy or research.

CCHS Family Network

The CCHS Family Network's focus is primarily on education and support of our families and CCHS patients, inter-family and family-physician communication, and supporting and facilitating CCHS research. The purpose of the CCHS Family Network is to assist each other, and especially new CCHS families, in coping with issues that arise in living with a family member who is technology (ventilator) dependent and whose respiratory status must be regularly monitored. We work to share patient experiences, provide information about healthcare strategies, new technologies and CCHS research and treatment.

Last Updated: 17 Feb 2013

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Central Hypoventilation Syndrome" for support, advocacy or research.

CCHS Family Network

The CCHS Family Network's focus is primarily on education and support of our families and CCHS patients, inter-family and family-physician communication, and supporting and facilitating CCHS research. The purpose of the CCHS Family Network is to assist each other, and especially new CCHS families, in coping with issues that arise in living with a family member who is technology (ventilator) dependent and whose respiratory status must be regularly monitored. We work to share patient experiences, provide information about healthcare strategies, new technologies and CCHS research and treatment.

http://www.cchsnetwork.org

Last Updated: 17 Feb 2013

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital Central Hypoventilation Syndrome" returned 43 free, full-text research articles on human participants. First 3 results:

Normal sleep on mechanical ventilation in adult patients with congenital central alveolar hypoventilation (Ondine's curse syndrome).
 

Author(s): Valérie Attali, Christian Straus, Michel Pottier, Marie-Annick Buzare, Capucine Morélot-Panzini, Isabelle Arnulf, Thomas Similowski

Journal:

 

The purpose of this study was to describe the sleep structure (especially slow wave sleep) in adults with congenital central hypoventilation syndrome (CCHS), a rare genetic disease due to mutations in the PHOX2B gene. Fourteen patients aged 23 (19.0; 24.8) years old (median [1-3rd ...

Last Updated: 31 Dec 1969

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Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene.
 

Author(s): Eva Klaskova, Jiri Drabek, Milada Hobzova, Vratislav Smolka, Miroslav Seda, Jiri Hyjanek, Rastislav Slavkovsky, Jana Stranska, Martin Prochazka

Journal: Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016 Dec;160(4):495-498.

 

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder resulting from mutations in the PHOX2B gene located on chromosome 4p12.3, characterized by hypoventilation secondary to missing responses to both hypercapnia and hypoxia.

Last Updated: 31 Dec 1969

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Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear Import.
 

Author(s): Simona Di Lascio, Debora Belperio, Roberta Benfante, Diego Fornasari

Journal: J. Biol. Chem.. 2016 Jun;291(25):13375-93.

 

Heterozygous mutations of the human PHOX2B gene, a key regulator of autonomic nervous system development, lead to congenital central hypoventilation syndrome (CCHS), a neurodevelopmental disorder characterized by a failure in the autonomic control of breathing. Polyalanine expansions ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Congenital Central Hypoventilation Syndrome" returned 6 free, full-text review articles on human participants. First 3 results:

Respiratory and autonomic dysfunction in congenital central hypoventilation syndrome.
 

Author(s): Thiago S Moreira, Ana C Takakura, Catherine Czeisler, Jose J Otero

Journal: J. Neurophysiol.. 2016 Aug;116(2):742-52.

 

The developmental lineage of the PHOX2B-expressing neurons in the retrotrapezoid nucleus (RTN) has been extensively studied. These cells are thought to function as central respiratory chemoreceptors, i.e., the mechanism by which brain Pco2 regulates breathing. The molecular and cellular ...

Last Updated: 31 Dec 1969

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Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review.
 

Author(s): Renata Lazari Sandoval, Carlos Moreno Zaconeta, Paulo Roberto Margotto, Maria Teresinha de Oliveira Cardoso, Evely Mirella Santos França, Cristina Touguinha Neves Medina, Talyta Matos Canó, Aline Saliba de Faria

Journal: Rev Paul Pediatr. 2016 Sep;34(3):374-8.

 

To report the case of a newborn with recurrent episodes of apnea, diagnosed with Congenital Central hypoventilation syndrome (CCHS) associated with Hirschsprung's disease (HD), configuring Haddad syndrome.

Last Updated: 31 Dec 1969

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Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation.
 

Author(s): Pallavi P Patwari, Michael S Carroll, Casey M Rand, Rajesh Kumar, Ronald Harper, Debra E Weese-Mayer

Journal: Respir Physiol Neurobiol. 2010 Oct;173(3):322-35.

 

The paired-like homeobox 2B gene (PHOX2B) is the disease-defining gene for congenital central hypoventilation syndrome (CCHS). Individuals with CCHS typically present in the newborn period with alveolar hypoventilation during sleep and often during wakefulness, altered respiratory ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

International Congenital Central Hypoventilation Syndrome (CCHS) Registry
 

Status: Recruiting

Condition Summary: Congenital Central Hypoventilation Syndrome

 

Last Updated: 7 Dec 2017

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Evaluation of the Awakening Capability by a Vibrating Bracelet (BRASSARD)
 

Status: Recruiting

Condition Summary: Congenital Central Hypoventilation Syndrome; Patients With Nocturnal Ventilatory Assistance; Healthy Volunteers

 

Last Updated: 20 Feb 2017

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