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 44 free, full-text research articles on human participants. First 3 results:

Health-related quality of life in young adults with congenital central hypoventilation syndrome due to PHOX2B mutations: a cross-sectional study.
 

Author(s): Emilienne Verkaeren, Agnès Brion, Amélie Hurbault, Cécile Chenivesse, Capucine Morelot-Panzini, Jésus Gonzalez-Bermejo, Valérie Attali, Thomas Similowski, Christian Straus

Journal:

 

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disease due to PHOX2B mutations. CCHS patients suffer from many autonomic disorders, dominated clinically by defective ventilatory automatisms. From birth, the life of CCHS patients depends on ventilatory support ...

Last Updated: 1 Jul 2015

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Using non-invasive bi-level positive airway pressure ventilator via tracheostomy in children with congenital central hypoventilation syndrome: two case reports.
 

Author(s): Aroonwan Preutthipan, Teeradej Kuptanon, Harutai Kamalaporn, Anchalee Leejakpai, Malinee Nugboon, Duangrurdee Wattanasirichaigoon

Journal:

 

Due to the economic downturn in Thailand, two baby girls with congenital central hypoventilation syndrome had to wait for several months to obtain definite diagnosis and long-term mechanical ventilation. Genetic investigation later revealed 20/25 polyalanine expansion of PHOX2B gene ...

Last Updated: 3 Jul 2015

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Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome.
 

Author(s): Hiroko Nobuta, Maria Roberta Cilio, Olivier Danhaive, Hui-Hsin Tsai, Srinivasan Tupal, Sandra M Chang, Alice Murnen, Faith Kreitzer, Verenice Bravo, Catherine Czeisler, Hamza Numan Gokozan, Patrick Gygli, Sean Bush, Debra E Weese-Mayer, Bruce Conklin, Siu-Pok Yee, Eric J Huang, Paul A Gray, David Rowitch, José Javier Otero

Journal: Acta Neuropathol.. 2015 Aug;130(2):171-83.

 

Human congenital central hypoventilation syndrome (CCHS), resulting from mutations in transcription factor PHOX2B, manifests with impaired responses to hypoxemia and hypercapnia especially during sleep. To identify brainstem structures developmentally affected in CCHS, we analyzed ...

Last Updated: 16 Jul 2015

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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 4 free, full-text review articles on human participants. First 3 results:

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: 27 Sep 2010

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The control of breathing with reference to congenital central hypoventilation syndrome.
 

Author(s): F Child, J Couriel

Journal: J R Soc Med. 1998 Sep;91(9):479-83.

 

Last Updated: 18 Dec 1998

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Congenital central hypoventilation syndrome and Hirschsprung's disease.
 

Author(s): G D Croaker, E Shi, E Simpson, T Cartmill, D T Cass

Journal: Arch. Dis. Child.. 1998 Apr;78(4):316-22.

 

Five cases of the Hirschsprung's disease-congenital central hypoventilation syndrome (CCHS) association are presented and 41 other published cases reviewed. These children have a distinct pattern of associated features, an equal sex incidence, and a characteristic spectrum of disease ...

Last Updated: 18 Jun 1998

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Therapeutic Effect of Desogestrel on Ventilatory Control in Patients With Congenital Central Hypoventilation Syndrome
 

Status: Not yet recruiting

Condition Summary: Congenital Central Hypoventilation Syndrome

 

Last Updated: 13 Feb 2012

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European Home Mechanical Ventilation Registry
 

Status: Recruiting

Condition Summary: Pulmonary Disease, Chronic Obstructive; Amyotrophic Lateral Sclerosis; Spinal Cord Injury; Muscular Dystrophies; Obesity Hypoventilation Syndrome; Kyphoscoliosis; Congenital Central Hypoventilation Syndrome; Duchenne Muscular Dystrophy; Myopathies; Myotonic Dystrophy

 

Last Updated: 8 Dec 2014

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PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood
 

Status: Recruiting

Condition Summary: Central Alveolar Hypoventilation Syndrome

 

Last Updated: 6 Nov 2012

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