Congenital central hypoventilation syndrome (CCHS), also known as Ondine’s curse, is a rare genetic disorder that affects the control of breathing. Infants with CCHS have a decreased respiratory response to reduced oxygen levels and increased carbon dioxide levels in their blood, leading to hypoventilation.

This condition is present from birth, and affected individuals typically experience respiratory difficulties during sleep, but may also have symptoms during wakefulness. CCHS is caused by mutations in the PHOX2B gene, which plays a critical role in the development and functioning of the autonomic nervous system, especially in the control of breathing.

The inheritance pattern of CCHS is usually autosomal dominant, meaning that an affected individual has a 50 percent chance of passing the condition on to each of their children. However, in some cases, CCHS can result from de novo mutations or mosaicism, which can complicate genetic testing and inheritance patterns.

Diagnosis of CCHS is often based on clinical features and genetic testing, but additional testing may be needed to rule out other diseases and to evaluate heart and respiratory function. Treatment for CCHS involves respiratory support, such as mechanical ventilation or the use of a diaphragm pacemaker, which helps to regulate breathing during sleep.

For more information about Congenital Central Hypoventilation Syndrome, including resources for support and clinical trials, visit the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. You can also find scientific articles and genetic research on CCHS through sources such as PubMed and OMIM.

Frequency

The frequency of Congenital Central Hypoventilation Syndrome (CCHS) is estimated to be about 1 in 200,000 live births. However, this is likely an underestimate as many individuals with mild symptoms may go undiagnosed.

Students who make it into medical school pay a lot of money for the privilege of eventually becoming a doctor, with medical school students in the class of 2019 graduating with an average of $201,490 in student debt, according to the Association of American Medical Colleges as reported by Nerd Wallet. That’s an increase of 2.5% from 2018.

CCHS is a rare genetic condition and is often caused by mutations in the PHOX2B gene. These mutations can vary in type and location, resulting in a wide range of symptoms and severity of the syndrome.

Research and genetic testing have identified more than 100 different mutations in the PHOX2B gene associated with CCHS. The exact function of the PHOX2B gene in neural control of breathing is still not fully understood.

It is important to note that not all cases of CCHS are inherited. Some cases can occur due to de novo mutations, which means that the gene mutation occurs spontaneously in the affected individual and is not inherited from parents.

CCHS can affect individuals of all ages, from infants to adults. However, symptoms typically occur from birth and may become more pronounced during sleep or when the individual is not actively breathing.

Studies have shown that individuals with CCHS are at an increased risk of having other associated conditions, such as Hirschsprung disease, heart defects, and neural crest tumors. Therefore, it is important for patients with CCHS to receive appropriate medical screening and follow-up care to monitor for these potential complications.

For more information on CCHS, the following resources are available:

  • The CCHS Family Network provides support and advocacy for patients and families affected by CCHS. They have a website that offers information on the condition, resources, and a community for patients and families to connect.
  • The OMIM database (Online Mendelian Inheritance in Man) provides detailed information on the genetic causes of CCHS and other related diseases.
  • The National Institutes of Health (NIH) website has additional information on CCHS, including clinical trials that may be recruiting participants.
  • PubMed is a catalog of scientific articles and research studies on CCHS and related topics. It can be a useful resource for healthcare professionals and researchers.

Overall, CCHS is a rare condition with a wide range of symptoms and severity. Further research is needed to better understand the underlying causes and functions of the condition, as well as develop improved treatments and support for affected individuals and their families.

Causes

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder that affects the neural control of breathing. It is primarily caused by mutations in the PHOX2B gene, located on chromosome 4. These mutations result in abnormal development and function of the autonomic nervous system, which controls involuntary bodily functions, including breathing.

Research studies have shown that about 90% of individuals with CCHS have mutations in the PHOX2B gene. However, the cause of CCHS in the remaining 10% of patients is currently unknown, suggesting the involvement of other genetic factors. Genetic testing can help identify specific mutations in the PHOX2B gene and provide valuable information for diagnosis and management of CCHS.

The inheritance pattern of CCHS is usually autosomal dominant, meaning that an affected individual has a 50% chance of passing the condition on to their children. However, there have been rare cases of autosomal recessive inheritance and genetic mosaicism, where certain cells have different genetic mutations than others, leading to varying symptoms and severity of the condition.

Additional causes of CCHS may include genetic abnormalities of other genes involved in the neural control of breathing, although these are less common. Further research is needed to understand the complex genetic and molecular mechanisms underlying CCHS and its associated conditions.

It is important to note that CCHS is a lifelong condition, and affected individuals may require respiratory support, especially during sleep or periods of reduced activity. The severity of symptoms can vary widely, with some individuals experiencing mild breathing difficulties while others require constant ventilatory support.

For more information about the causes and inheritance patterns of CCHS, you can refer to scientific articles and resources available from databases such as PubMed, OMIM, and the Catalog of Human Genetic Diseases. Additionally, advocacy and support organizations like the Congenital Central Hypoventilation Syndrome Family Network and clinicaltrials.gov can provide further resources and information to support patients and their families.

Learn more about the gene associated with Congenital central hypoventilation syndrome

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder that affects the control of breathing. It is primarily caused by mutations in the PHOX2B gene.

The PHOX2B gene, also known as paired-like homeobox 2b, is responsible for the development and function of autonomic control centers in the brain. These control centers play a vital role in regulating involuntary, automatic functions such as breathing, heart rate, temperature, and blood pressure.

Research has shown that mutations in the PHOX2B gene disrupt its normal function, leading to the characteristic symptoms of CCHS. These symptoms primarily affect infants and are associated with the control of respiration during sleep, causing shallow or absent breathing. In awake states, individuals with CCHS typically have normal breathing patterns.

Studies have also found that the PHOX2B gene is involved in the development and function of other tissues and organs, including the heart. This may explain why individuals with CCHS often experience additional health issues such as heart rhythm abnormalities.

See also  Hemophilia

The inheritance pattern of CCHS is autosomal dominant, which means that a child has a 50 percent chance of inheriting the condition if one parent carries the mutated PHOX2B gene.

If you want to learn more about the PHOX2B gene and its association with CCHS, additional information can be found in the following resources:

  • Ceccherini I, Zhang X, Matera I, et al. PHOX2B mutational screening in late-onset central hypoventilation syndrome (Ondine’s curse). American Journal of Medical Genetics Part A. 2005;132A(1):117-119. PMID: 15551345
  • Zhou L, Li X, Chen Z, et al. Complete screening of variants in PHOX2B gene reveals distinct haplotype patterns in Congenital Central Hypoventilation Syndrome. Human Genetics. 2012;131(5):717-727. PMID: 22159526
  • OMIM (Online Mendelian Inheritance in Man) database entry on Congenital Central Hypoventilation Syndrome. Available at: https://www.omim.org/entry/209880

In addition to these research papers and databases, there are also advocacy and support organizations that provide resources and information for patients and their families. These include the CCHS Family Network (https://www.cchsnetwork.org/) and the International Ventilator Users Network (https://www.ventusers.org/).

Ongoing research on the PHOX2B gene and its functions may lead to a better understanding of CCHS and the development of new treatment options. Clinical trials related to CCHS can be found on ClinicalTrials.gov website (https://clinicaltrials.gov/). Searching for “Congenital Central Hypoventilation Syndrome” or “PHOX2B gene” will provide more information on current studies and trials.

Inheritance

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder that affects the autonomic control of breathing. It is primarily inherited in an autosomal dominant manner, although in some cases it can also occur sporadically.

Autosomal dominant inheritance means that an individual with CCHS has a 50 percent chance of passing on the syndrome to each of their children. However, not all cases of CCHS are inherited from a parent; some can be caused by de novo mutations that occur during early fetal development.

The genetic cause of CCHS is mutations in the PHOX2B gene. Mutations in this gene have been associated with other rare diseases, including Hirschsprung disease and neuroblastoma.

The PHOX2B gene is involved in the development of the autonomic nervous system, which controls involuntary functions such as breathing, heart rate, blood pressure, and temperature regulation. Mutations in this gene disrupt the normal function of the autonomic nervous system, leading to hypoventilation and other symptoms of CCHS.

Genetic testing can confirm a diagnosis of CCHS and identify the specific mutation in the PHOX2B gene. This information can be helpful for counseling families about the inheritance pattern and understanding the risk of passing on the syndrome to future children.

There is currently no cure for CCHS, but treatment options are available to help manage the symptoms. Infants with CCHS often need support with breathing, especially during sleep. Continuous positive airway pressure (CPAP) machines or mechanical ventilators may be used to assist with breathing.

Research studies, including clinical trials, are ongoing to learn more about the genetic and molecular mechanisms underlying CCHS, as well as to explore potential new therapies. The clinicaltrials.gov database provides information about these studies.

In addition to genetic testing and clinical research, supportive resources and advocacy organizations may provide more information and support for those affected by CCHS and their families. The CCHS Family Network and CCHS Foundation are two examples of such organizations.

For more scientific information about CCHS and related genetic diseases, the OMIM (Online Mendelian Inheritance in Man) catalog and PubMed articles can be valuable resources.

Other Names for This Condition

Congenital central hypoventilation syndrome (CCHS) is also known by several other names:

  • Central hypoventilation syndrome, congenital
  • Central hypoventilation syndrome of central origin
  • Ondine’s curse
  • Ondine’s curse syndrome
  • CCHS
  • Idiopathic congenital central hypoventilation syndrome (iCCHS)
  • Haddad syndrome
  • Haddad syndrome type 1

These names all refer to the same rare genetic disease characterized by impaired control of breathing during sleep and, in severe cases, during wakefulness as well. CCHS is associated with a mutation in the PHOX2B gene, which plays a crucial role in the development and functioning of the central nervous system. The gene mutation affects the normal neural control of breathing and results in a decrease in the drive to breathe, especially during sleep.

CCHS is present from birth and typically manifests as respiratory difficulties in infants, often requiring mechanical ventilation for their survival. The severity of symptoms can vary widely among patients with CCHS, ranging from mild respiratory disturbances to life-threatening episodes of hypoventilation, which can lead to cardiac arrest and sudden death if not addressed promptly.

For additional information about this syndrome, including its inheritance patterns, associated genes and mutations, and clinical features, please refer to the resources below:

  • Congenital Central Hypoventilation Syndrome (CCHS) on OMIM (Online Mendelian Inheritance in Man)
  • Congenital Central Hypoventilation Syndrome (CCHS) on PubMed
  • Congenital Central Hypoventilation Syndrome (CCHS) on ClinicalTrials.gov

If you are a patient or caretaker of someone with CCHS, there are advocacy and support organizations available that can provide resources and assistance. These organizations can also help you connect with other families affected by CCHS to share experiences and offer support:

  • Phox2b.eu – European advocacy for Congenital Central Hypoventilation Syndrome
  • American Association for Respiratory Care (AARC) – Respiratory disorders in children
  • Children’s Cardiomyopathy Foundation – Center for Genetic Heart Disease and research catalog
  • The Haddad Syndrome Foundation

Research studies and genetic testing are ongoing to further understand the underlying causes of CCHS and develop better treatment options for affected individuals. Scientists and medical professionals are dedicated to improving the quality of life for those living with this condition and their families.

References:

  1. Ceccherini, I. et al. (1995) Congenital Central Hypoventilation Syndrome and Tumors of Neural Crest Origin. The New England Journal of Medicine.
  2. Zhou, C. et al. (2009) Congenital central hypoventilation syndrome: A novel mutation of the PHOX2B gene in Chinese patients. Journal of Child Neurology.

Additional Information Resources

Here are some additional resources for more information about Congenital Central Hypoventilation Syndrome (CCHS):

  • OMIM – Online Mendelian Inheritance in Man: A database that provides comprehensive information about genetic disorders. You can find detailed information about CCHS, including its genetic causes, inheritance patterns, and associated clinical features.
  • CCHS Family Network – A patient advocacy group that provides support and information to individuals and families affected by CCHS. They offer resources for families, connections to other patients, and education about the condition.
  • PubMed – A database of scientific research articles. You can find scientific studies and publications related to CCHS, including studies on its genetic causes, neural control of breathing, and associated diseases.
  • ClinicalTrials.gov – A registry of clinical trials and research studies. You can search for ongoing and completed clinical trials related to CCHS, which may provide opportunities for patients to participate in research and access new treatments.
  • Children’s Hospital of Philadelphia (CHOP) CCHS Center – A specialized center for the diagnosis, treatment, and management of CCHS. They provide comprehensive care for patients with CCHS, including genetic testing, respiratory support, and coordination of multidisciplinary care.
  • CCHS Genetic Testing Resources – A list of laboratories and genetic testing centers that offer testing for CCHS. Genetic testing can help confirm a diagnosis and identify specific gene mutations associated with the condition.
See also  SMC3 gene

These resources can provide more information about CCHS, its genetic causes, associated diseases, and available support and treatment options. It is important to consult with healthcare professionals and experts in the field for personalized information and guidance regarding this rare congenital syndrome.

Genetic Testing Information

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder that affects the control of breathing. It is caused by mutations in certain genes that play a role in the neural regulation of respiration. The exact cause of CCHS is still not fully understood, but genetic testing can help identify the underlying genetic mutations responsible for the condition.

Genetic testing is important for individuals with CCHS and their families to understand the inheritance pattern and to provide information about the risk of passing the condition to future generations. It can also help in early diagnosis and treatment planning for affected individuals.

Studies have shown that approximately 90 percent of individuals with CCHS have mutations in the PHOX2B gene, which is associated with the control of breathing. Other genes such as ASCL1, RET, and EDN3 have also been found to be associated with CCHS, although less frequently.

Genetic testing for CCHS can be done using a variety of methods, including sequencing specific genes or using more comprehensive gene panel testing. These tests can help identify specific mutations in the genes associated with CCHS.

It is important to note that genetic testing may not detect all mutations associated with CCHS, as there may be other genes involved that are not yet known. Therefore, a negative genetic test result does not completely rule out the possibility of having CCHS.

Genetic testing for CCHS can also be helpful in identifying individuals with mosaicism, a condition where some cells in the body have different genetic makeup than others. Mosaicism can affect the severity and presentation of CCHS symptoms.

More research is needed to further understand the genetic causes of CCHS and how specific gene mutations contribute to the development of the condition. Ongoing scientific studies and clinical trials, which can be found on websites such as ClinicalTrials.gov, are dedicated to advancing our knowledge and finding new treatment options for individuals with CCHS.

For individuals and families affected by CCHS, there are advocacy and patient support resources available. Organizations such as the CCHS Family Network provide information, articles, and additional resources to help educate and support individuals with CCHS and their families.

In conclusion, genetic testing plays a crucial role in understanding the underlying genetic causes of congenital central hypoventilation syndrome. It helps identify specific gene mutations associated with the condition and can provide valuable information for diagnosis, treatment, risk assessment, and genetic counseling.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about congenital central hypoventilation syndrome (CCHS) as well as other genetic and rare diseases. GARD offers a wide range of resources for patients, families, and healthcare professionals.

CCHS is a rare genetic condition that affects the neural control of breathing. It is also known as Ondine’s curse, after a mythological character who forgot to breathe while sleeping. Infants with this condition often have difficulty breathing, especially during sleep. This can lead to low oxygen levels and other complications.

CCHS is caused by mutations in the PHOX2B gene, which plays a crucial role in the development and function of neural tissues involved in breathing. The inheritance pattern of CCHS can vary, but it is typically autosomal dominant, meaning that only one copy of the mutated gene is needed to cause the condition. However, de novo mutations and mosaicism have also been reported in some cases.

Diagnosis of CCHS is usually based on clinical evaluation, genetic testing, and sleep studies. Genetic testing can confirm the presence of PHOX2B mutations and help differentiate CCHS from other conditions with similar symptoms.

There is currently no cure for CCHS, but treatment focuses on managing symptoms and providing support for affected individuals. This may include the use of mechanical ventilation, medication, and regular monitoring of oxygen levels. Surgical interventions, such as tracheostomy, may be necessary in severe cases.

Scientific studies and research on CCHS are ongoing in order to better understand the condition and develop new treatment options. The frequency of CCHS is estimated to be around 1 in 200,000 births, but this may be an underestimate due to underdiagnosis.

For more information about CCHS, including additional resources and support, please visit the GARD website or contact the GARD Information Center.

Resources References
  • Genetic and Rare Diseases Information Center (GARD)
  • OMIM – Online Mendelian Inheritance in Man
  • PubMed – National Library of Medicine
  • PHOX2B mutation catalog
  • Advocacy organizations such as the CCHS Family Network
  • Scientific studies and research articles
  • CECCHERINI et al. (2008). Congenital central hypoventilation syndrome: Analysis of genes, transmissions and inheritance patterns in 108 families. European Journal of Human Genetics, 16(3), 351-361.
  • ZHOU et al. (2020). Congenital central hypoventilation syndrome: A brief review and update. Pediatr Pulmonol. 2020; 55: 1229– 1236.
  • Rand CM, Carroll MS, Weese-Mayer DE. Congenital Central Hypoventilation Syndrome (Ondine’s Curse): Current Review. Semin Respir Crit Care Med. 2019;40(3):411-422.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with Congenital Central Hypoventilation Syndrome (CCHS), it is important to know that you are not alone. There are several patient support and advocacy resources available to help you navigate through this condition and provide the necessary support

  • Zhou Lab CCHS Research Center: The Zhou Lab is at the forefront of scientific research on CCHS. They have discovered the PHOX2B gene, which is responsible for the condition. Their website provides information about ongoing research, clinical trials, and resources for patients and families with CCHS.
  • CCHS Family Network: The CCHS Family Network is a non-profit organization dedicated to providing support, education, and advocacy for individuals with CCHS and their families. They offer a variety of resources including newsletters, online forums, and a directory of healthcare providers experienced in treating CCHS.
  • The Genetic and Rare Diseases Information Center (GARD): GARD provides a comprehensive catalog of genetic and rare diseases, including CCHS. Their website includes information on symptoms, inheritance patterns, and available treatments for CCHS. They also provide links to relevant scientific articles and research studies.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource for genetic information. It provides detailed information about genes, genetic variants, and the associated diseases. OMIM has a dedicated page for CCHS, which includes information about the causative gene, associated symptoms, and inheritance patterns.

These resources can help you learn more about CCHS and connect with other individuals and families facing similar challenges. They can provide valuable information about treatment options, ongoing research studies, and clinical trials that may be relevant to your situation. It is important to stay informed and advocate for yourself or your loved one with CCHS.

Remember, although CCHS is a rare condition, there is a supportive community available to help you through this journey.

Research Studies from ClinicalTrials.gov

Research studies from ClinicalTrials.gov provide additional information on the genetic research and inheritance patterns of congenital central hypoventilation syndrome (CCHS). CCHS is a rare genetic disorder that affects infants and children, leading to impaired respiratory control during sleep and in response to low oxygen levels.

See also  VPS13B gene

ClinicalTrials.gov is a valuable resource for patients, caregivers, and healthcare professionals seeking information on ongoing research studies and clinical trials related to CCHS. These studies aim to understand the underlying genetic causes of the syndrome, identify the frequency of specific gene mutations, and explore potential treatment options and management strategies.

In searching ClinicalTrials.gov, one can find studies investigating the association between CCHS and other rare diseases, such as heart defects. These studies contribute to our understanding of the diverse functions of the genes associated with CCHS and their roles in various tissues and organs.

Some research studies focus on the genetic testing and cataloging of gene mutations in CCHS patients. By identifying specific mutations, researchers can better understand the causes and inheritance patterns of the syndrome. Some studies also explore the role of genetic mosaicism in CCHS, which refers to the presence of different genetic variations within an individual’s tissues.

In addition to genetic research, ClinicalTrials.gov provides resources on advocacy organizations and centers dedicated to CCHS, such as the Center for Scientific Resources on CCHS. These centers offer a wealth of information, support, and educational materials for patients, families, and healthcare professionals.

It is important for researchers, healthcare professionals, and patients to learn about the latest research studies and clinical trials from ClinicalTrials.gov. This information can lead to advancements in our understanding of CCHS and ultimately improve the care and management of patients with this syndrome.

References:

By accessing and learning from these resources, researchers and healthcare professionals can work towards a better understanding of the underlying genetic causes of CCHS and develop more effective treatments and interventions to improve the quality of life for patients with this syndrome.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information about various genetic diseases, including Congenital Central Hypoventilation Syndrome (CCHS). This catalog serves as a valuable tool for researchers, healthcare professionals, and patients who need to understand the genetic causes and inheritance patterns of different diseases.

CCHS is a rare genetic condition that causes infants to hypoventilate or breathe abnormally during sleep or at rest. It is also known as Ondine’s Curse, which refers to a mythological character who forgot to breathe while sleeping. CCHS is associated with mutations in the PHOX2B gene, which plays a crucial role in the development and function of the neural control of breathing.

The inheritance pattern of CCHS is autosomal dominant, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. However, spontaneous mutations and mosaicism have also been reported in some individuals, causing the disease to occur unexpectedly in families.

OMIM provides scientific and clinical resources on CCHS, including gene descriptions, clinical presentations, inheritance patterns, and associated diseases. The catalog also includes information on genetic testing and references for further research. OMIM serves as a central repository for knowledge and supports the advancement of scientific studies on CCHS and other genetic diseases.

CCHS typically manifests in infancy and presents with symptoms such as hypoventilation, low body temperature, and poor control of breathing. Since CCHS is a rare condition, it is essential for healthcare professionals to be aware of its signs and seek proper diagnosis and management.

In addition to OMIM, other resources like the C.H.I.L.D. Foundation, which stands for Congenital Central Hypoventilation Syndrome, International, and the Central Hypoventilation Syndrome Family Support and Research Network provide additional information, support, and advocacy for individuals and families affected by CCHS.

Further research is needed to better understand the functions of the PHOX2B gene and the neural control system in CCHS. Ongoing studies and clinical trials registered on ClinicalTrials.gov aim to investigate potential treatments and management strategies for CCHS patients.

  1. Ceccherini I. Congenital central hypoventilation syndrome. Orphanet J Rare Dis. 2006;1:33. doi:10.1186/1750-1172-1-33.
  2. Zhou M, Ge X, Chen S. Congenital central hypoventilation syndrome: review and genotype–phenotype correlation. Asian J Androl. 2020;22(1):16-21. doi:10.4103/aja.aja_67_19.
References:

Scientific Articles on PubMed

PubMed is a valuable resource for accessing scientific articles on Congenital Central Hypoventilation Syndrome (CCHS). CCHS is a rare genetic condition that affects the control of breathing. It is also known as Ondine’s Curse, named after a mythical figure who was cursed to forget to breathe during sleep.

Research on CCHS has provided important insights into the genes and neural control of breathing. Many articles on PubMed explore the genetic causes of CCHS, including mutations in the PHOX2B gene. The PHOX2B gene plays a crucial role in the development of neural tissues involved in breathing control. Mutations in this gene can disrupt its normal functions and lead to CCHS.

Scientists have also studied other genetic factors that may contribute to CCHS, such as mosaicism and inheritance patterns. Understanding the genetic basis of CCHS is important for diagnosing and managing the condition in infants and children.

Clinical trials are also being conducted to investigate new treatments for CCHS. ClinicalTrials.gov is a valuable resource for finding information about ongoing clinical trials. These trials aim to improve the quality of life for patients with CCHS and support advocacy organizations, such as the ADHD Foundation, that raise awareness and provide support for individuals with CCHS.

Articles on PubMed provide additional information on the clinical features and management of CCHS. They cover topics such as the association of CCHS with other diseases and conditions, the need for multi-disciplinary care centers for CCHS patients, and the role of genetic counseling in managing the condition.

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genetic conditions, including CCHS. It provides detailed information on the genetics, inheritance patterns, and clinical features of CCHS. OMIM is a valuable resource for clinicians, researchers, and patients seeking more information on this condition.

In conclusion, scientific articles on PubMed provide a wealth of information on Congenital Central Hypoventilation Syndrome. They cover a broad range of topics from genetic causes and clinical features to treatment options and resources for support. Researchers, clinicians, and patients can learn more about this rare condition through the studies and resources available on PubMed.

References

  • Catalog of Human Genes and Genetic Disorders. (n.d.). Retrieved from https://www.omim.org/
  • Ceccherini, I., Zhang, S., Matera, I., & Silvestri, R. (2003). Congenital central hypoventilation syndrome. American Journal of Medical Genetics Part A, 135A(1), 10–16. doi: 10.1002/ajmg.a.21661
  • More than Snoring: Understanding Central Congenital Hypoventilation Syndrome. (2020). Retrieved from https://www.ucsfbenioffchildrens.org/conditions/congenital_central_hypoventilation_syndrome/
  • Neural Crest Disorders. (n.d.). Retrieved from https://rarediseases.org/rare-diseases/neural-crest-disorders/
  • Rand, C. M., Hilaire, M. L. S., Dinardo, C., & Zhou, S. (2020). Congenital central hypoventilation syndrome. Pediatric Pulmonology, 55(S2), S18–S27. doi: 10.1002/ppul.24771
  • Zhou, L., Xu, L., Zhou, X., Sun, Y., Li, W., Ma, W., & Zhang, M.-Q. (2016). Congenital central hypoventilation syndrome: presentation in adulthood. Chinese Medical Journal, 129(19), 2349–2350. doi: 10.4103/0366-6999.190702
  • ClinicalTrials.gov. (n.d.). Retrieved from https://clinicaltrials.gov/
  • PubMed. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/

Additional resources and advocacy groups:

  • Learn about Congenital Central Hypoventilation Syndrome. (n.d.). Retrieved from https://www.geneticdiseasefoundation.org/congenital-central-hypoventilation-syndrome
  • Congenital Central Hypoventilation Syndrome Research. (n.d.). Retrieved from https://www.newlifeccf.org/research