Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is a rare genetic disorder that affects the growth and development of various organs, particularly the thorax and kidneys. The term “asphyxiating” refers to the narrowness of the thoracic cage, which can lead to severe respiratory difficulties and life-threatening complications. This condition is inherited in an autosomal recessive manner, meaning that both parents must carry the mutated gene for a child to be affected.

Patients with asphyxiating thoracic dystrophy typically present with short ribs, a narrow chest cavity, and skeletal abnormalities such as short limbs and polydactyly. Additionally, they may experience impaired kidney function, causing renal problems. These physical manifestations are caused by mutations in genes associated with ciliary function, a cellular transport pathway involved in signaling and cell growth.

Due to its rarity, information about asphyxiating thoracic dystrophy is limited. However, there are resources available for patients and their families to learn more about the condition and find support. One such resource is the Asphyxiating Thoracic Dystrophy Center, where patients can access clinical trials, genetic testing, and additional information about the disorder. Researchers have also conducted studies to better understand the genetic causes and clinical presentations of asphyxiating thoracic dystrophy, and these findings are published in scientific articles and cataloged in resources like PubMed and OMIM.

Advocacy groups and rare disease organizations are working to raise awareness and support for individuals and families affected by asphyxiating thoracic dystrophy. They provide resources for genetic counseling and testing, as well as support for managing the condition and associated health problems. By increasing awareness and promoting research, these organizations hope to improve the quality of life for those living with asphyxiating thoracic dystrophy and their families.

Frequency

The frequency of Asphyxiating Thoracic Dystrophy (ATD) can vary depending on the population studied. It is generally considered to be a rare genetic condition. According to the Cormier-Daire et al. (2000) study, the estimated frequency of ATD is approximately 1 in 100,000 live births.

In another study published on PubMed, it was found that ATD accounted for 4% of all cases referred to a genetic center for, thus indicating that it is relatively rare.

About half of all denied claims that are challenged or appealed ultimately end up being covered – but only when policyholders put in the time and energy to fight the denial, the Los Angeles Times

Genetic testing and clinical studies have identified various genes associated with ATD. Mutations in the IFT80 gene have been found in patients with ATD and have been linked to abnormal ciliary transport and cell signaling. Additionally, mutations in other ciliary genes like IFT122, IFT140, and WDR19 have also been associated with ATD. These studies have helped in understanding the genetic causes and pathophysiology of the condition.

ATD is characterized by narrow thoracic cage and growth abnormalities. It is often accompanied by additional clinical features such as renal disease and polydactyly. The inheritance pattern of ATD is autosomal recessive, which means that both copies of the gene must be mutated for the condition to manifest.

For patients suspected of having ATD, genetic testing can be done to identify the specific gene mutations. Resources like OMIM, clinicaltrialsgov, and genetic testing centers can provide more information and support for patients and families affected by ATD.

Research and advocacy organizations dedicated to rare diseases like Asphyxiating Thoracic Dystrophy play a crucial role in advancing knowledge and support for affected individuals. These organizations provide resources, clinical guidelines, and raise awareness about the condition. Scientific articles, references, and clinical studies can provide further information on the disease, its genetic basis, and potential treatment options.

Causes

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is a rare genetic condition associated with ciliary genes. It is caused by mutations in genes involved in ciliary assembly and transport, which are crucial for proper cell signaling and growth.

Research has identified several genes that are involved in the development of asphyxiating thoracic dystrophy. Some of these include the IFT80 gene, the DYNC2H1 gene, the WDR19 gene, and the DZIP1L gene. Mutations in these genes can lead to abnormal ciliary function and the characteristic features of this condition, such as narrow thoracic cage and polydactyly.

Each gene mutation can cause varying degrees of severity in the symptoms of asphyxiating thoracic dystrophy. In some cases, the condition may also be inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated gene for the child to be affected.

There is still much to learn about the genetic causes of asphyxiating thoracic dystrophy. Studies and research are ongoing to further understand the underlying mechanisms and potential treatment options for this rare condition.

Patient advocacy groups and research centers, such as the Cormier-Daire Thoracic Dystrophy Center, provide additional support, information, and resources for patients and their families affected by this condition.

If you would like to learn more about the genetic causes and inheritance of asphyxiating thoracic dystrophy, the following resources may be helpful:

• OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders
• Genet Test Mol Biomarkers – a scientific journal publishing articles on genetic testing and molecular biomarkers
• PubMed – a database of scientific articles and research
• ClinicalTrials.gov – a registry of clinical trials investigating potential treatments for asphyxiating thoracic dystrophy

Learn more about the genes associated with Asphyxiating thoracic dystrophy

Asphyxiating thoracic dystrophy is a rare genetic condition that affects the growth and development of various organs in the body. It is primarily characterized by narrow and shortened thorax, which can lead to severe respiratory problems. Other clinical features may include polydactyly (extra fingers or toes), renal (kidney) problems, and skeletal abnormalities.

Genetic studies have identified several genes associated with Asphyxiating thoracic dystrophy. One of the genes involved in this condition is IFT80, which is responsible for building cilia, hair-like structures found on the surface of cells. Cilia play a crucial role in signaling pathways and cell assembly, and their dysfunction can disrupt normal cellular functions.

Another gene related to Asphyxiating thoracic dystrophy is IFT140, which is also involved in ciliary signaling and assembly. Mutations in these genes can affect cilia formation and function, leading to the development of the condition.

If you suspect that you or someone you know may have Asphyxiating thoracic dystrophy, genetic testing can provide more information about the specific genetic changes involved. Testing can be done through specialized genetic centers or laboratories, and it can help confirm the diagnosis and guide treatment and management decisions. The Online Mendelian Inheritance in Man (OMIM) and PubMed databases are useful resources for finding more information about the genetic basis of this condition.

In addition to genetic testing, clinical trials and research studies are conducted to better understand the causes and underlying mechanisms of Asphyxiating thoracic dystrophy. Participating in these studies can contribute to the development of potential treatments and enhance scientific knowledge about the condition.

Support and advocacy organizations are available to provide resources, information, and support for individuals and families affected by Asphyxiating thoracic dystrophy. These organizations can provide guidance on managing the condition, connecting with other affected individuals, and accessing clinical resources.

In summary, Asphyxiating thoracic dystrophy is a rare genetic condition with narrow thorax, respiratory problems, and other associated abnormalities. Genetic studies have identified genes such as IFT80 and IFT140, which play a role in ciliary signaling and cell assembly. Genetic testing and resources from genetic centers, OMIM, and PubMed can provide more information about the genetic basis of this condition. Clinical trials, research studies, and support organizations further contribute to the understanding and management of Asphyxiating thoracic dystrophy.

Inheritance

Asphyxiating thoracic dystrophy (ATD), also known as Jeune syndrome, is a rare genetic condition. ATD follows an autosomal recessive pattern of inheritance, which means that a person must inherit two copies of the mutated gene – one from each parent – to develop the condition.

There are several genes associated with ATD, including the IFT80, IFT172, IFT140, IFT144, and DYNC2H1 genes. Mutations in these genes affect the structure and functioning of ciliary proteins involved in important signaling pathways and ciliary assembly.

More than 140 different mutations have been identified in these genes, each causing problems with ciliary transport and signaling processes. This disruption in ciliary function leads to the characteristic features of ATD, such as thoracic cage narrowing, renal and liver problems, and polydactyly.

Genetic testing can be performed to identify mutations in these genes and confirm a diagnosis of ATD. Testing may include sequencing the genes or other targeted genetic tests. Genetic testing can also be used to provide carrier testing for family members of an affected individual.

Additional clinical features and associated genetic conditions may provide clues for diagnosis, such as short ribs, short limbs, and abnormal bone growth. Renal problems and impaired kidney function are common in ATD and may be seen on ultrasound or other imaging studies.

Scientific articles and studies provide more information about the genetic causes and clinical features of ATD. Resources such as PubMed and OMIM can be searched to access these publications and learn more about the condition.

Patient support groups, advocacy organizations, and rare disease centers can also provide valuable information and support for individuals and families affected by ATD. These organizations may offer resources, educational materials, and opportunities for connecting with others facing similar challenges.

References:

• Cormier-Daire V. (2007). Jeune syndrome. In: Pagon RA et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1265/.
• Asphyxiating Thoracic Dystrophy. (n.d.). Genetics Home Reference. Retrieved September 16, 2021, from https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy.
• ClinicalTrials.gov. (n.d.). Asphyxiating Thoracic Dystrophy. Retrieved September 16, 2021, from https://clinicaltrials.gov/ct2/results?cond=Asphyxiating+Thoracic+Dystrophy&term=&cntry=&state=&city=&dist=.

Other Names for This Condition

• Asphyxiating thoracic dystrophy
• Jeune syndrome
• Asphyxiating thoracic dystrophy with polydactyly
• Asphyxiating thoracic dystrophy with renal, hepatic, and pancreatic involvement
• Jeune-Trouillard syndrome
• Short rib-polydactyly syndrome, type I
• Saldino-Noonan syndrome

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is a rare genetic condition with a frequency of approximately 1 in 100,000 to 130,000 births. It is characterized by narrow thoracic cage, causing respiratory problems and decreased lung capacity. This condition is associated with a ciliary dysfunction, which leads to ciliary assembly and transport problems in various cell types. The genetic causes of asphyxiating thoracic dystrophy involve mutations in multiple genes responsible for ciliary function and signaling pathway.

Patients with asphyxiating thoracic dystrophy may also present with additional features such as polydactyly (extra fingers or toes), renal (kidney), hepatic (liver), and pancreatic involvement. The inheritance pattern of this condition can vary, with both autosomal recessive and autosomal dominant inheritance reported in scientific literature.

There is limited information available about this condition, with most of it coming from research studies, clinical trials, and genetic testing. The OMIM database, a catalog of human genes and genetic diseases, provides further resources and articles on asphyxiating thoracic dystrophy. ClinicalGenetics.org, the website of the European Society of Human Genetics, also offers information on this condition.

Advocacy and support groups, such as the Cormier-Daire association, provide resources and help for patients and families affected by asphyxiating thoracic dystrophy. ClinicalTrials.gov is another valuable resource for information on ongoing clinical studies related to this condition.

Learn more about asphyxiating thoracic dystrophy and related genes from scientific articles available on PubMed, a database of biomedical literature.

Additional Information Resources

• Catalog of rare genetic diseases: Provides a comprehensive list of rare genetic diseases, including asphyxiating thoracic dystrophy. Each disease entry includes information such as associated genes and inheritance patterns. You can learn more about this condition and other rare genetic diseases here.
• Cormier-Daire pathway: Signaling studies that narrow down the associated genes and pathways involved in asphyxiating thoracic dystrophy. Further research into this pathway may provide insights into potential treatment targets. Read more about the cormier-daire pathway related to renal growth and associated kidney problems here.
• Genetic testing: Genetic testing is crucial in diagnosing asphyxiating thoracic dystrophy and other rare genetic diseases. It involves analyzing an individual’s genes to identify any abnormalities or mutations. Genetic testing enables early detection and improved management of the condition. Learn more about genetic testing and the genes associated with asphyxiating thoracic dystrophy here.
• Polydactyly: Asphyxiating thoracic dystrophy is often associated with polydactyly, the presence of additional fingers or toes. To learn more about polydactyly and its genetic causes, please visit here.
• Scientific articles and references: Stay up-to-date with the latest scientific research on asphyxiating thoracic dystrophy by exploring articles and references available on Pubmed. Access the repository of this rare condition’s scientific publications here.
• Clinical trials: Find information about ongoing clinical trials related to asphyxiating thoracic dystrophy on ClinicalTrials.gov. Participating in clinical trials can contribute to advancements in understanding and treating this condition. Discover more about clinical trials and how to get involved here.
• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource that provides information on genes and genetic disorders. Explore the OMIM database to learn more about asphyxiating thoracic dystrophy and its associated genes here.
• Support and advocacy: Connect with support groups and advocacy organizations that provide resources and assistance for individuals and families affected by asphyxiating thoracic dystrophy. Find support and access additional information on this rare condition here.

Genetic Testing Information

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is a rare genetic disorder characterized by a narrow thoracic cage, causing breathing difficulties and other health problems. The condition is mainly associated with mutations in the genes involved in the assembly and function of cilia, which are tiny, hair-like structures on the surface of cells.

Genetic testing is a scientific tool that can help identify the genes and genetic variants that cause asphyxiating thoracic dystrophy. By analyzing a patient’s DNA, researchers can pinpoint the specific genetic mutations responsible for this condition. This information is crucial for understanding the underlying causes of the disease and developing targeted treatments.

The Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource for geneticists and researchers studying rare genetic diseases like asphyxiating thoracic dystrophy. It provides comprehensive information about genes, genetic variants, and their associated diseases. The OMIM entry for asphyxiating thoracic dystrophy includes clinical descriptions, inheritance patterns, and references to relevant scientific studies.

In addition to OMIM, there are other databases and resources available for genetic testing information. The Genetests website provides a comprehensive list of genetic testing laboratories that offer tests for asphyxiating thoracic dystrophy, along with detailed information about each test. This can help patients and healthcare providers find the most appropriate testing option for their needs.

Genetic testing for asphyxiating thoracic dystrophy can provide valuable insights into the patient’s condition, allowing for more precise diagnosis, prognosis, and treatment. It can also help identify other associated health issues, such as renal and growth problems, which may need to be addressed in the management of the disease.

Furthermore, genetic testing is essential for families and individuals with asphyxiating thoracic dystrophy to understand the inheritance pattern of the condition and better manage their reproductive choices. It can provide information on the likelihood of passing on the disease to offspring and help families make informed decisions about family planning.

In summary, genetic testing is a critical tool for the diagnosis, treatment, and management of asphyxiating thoracic dystrophy. It provides valuable information about the specific genes and genetic variants associated with this condition, allowing for a more comprehensive understanding of the disease and informing patient care. The availability of genetic testing resources and support from advocacy groups further facilitates access to this important tool in the field of rare genetic diseases.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a center that provides information on genetic and rare diseases. It is a resource for patients, families, healthcare professionals, and researchers who are interested in learning about these diseases.

GARD provides information on various genetic and rare diseases, including Asphyxiating Thoracic Dystrophy (ATD). ATD is a rare genetic condition that affects the growth and development of multiple organs, including the thorax, kidneys, and limbs.

GARD offers a comprehensive catalog of genetic diseases, including ATD, and provides information on the associated genes and inheritance patterns. It also offers resources on clinical trials, genetic testing, and research studies related to ATD.

At GARD, you can find articles on the scientific research and studies conducted on ATD. These articles cover various topics such as the genetic causes of ATD, the cellular and molecular mechanisms involved in the disease, and the clinical problems associated with ATD.

GARD provides additional resources on ATD, such as information on supportive care and treatment options. It also offers information on research organizations and support groups that specialize in ATD.

If you are interested in genetic testing for ATD, GARD can provide information on the available testing options and laboratories that offer these services. GARD also offers information on the limitations and benefits of genetic testing for ATD.

GARD’s website contains a wealth of information on ATD and other genetic diseases. It includes references to scientific articles, databases like OMIM and PubMed, and other online resources for further reading.

Overall, GARD is a valuable resource for individuals looking to learn more about Asphyxiating Thoracic Dystrophy and other rare genetic diseases. It provides comprehensive information, resources, and support for patients, healthcare professionals, and researchers.

Patient Support and Advocacy Resources

Patients and their families affected by asphyxiating thoracic dystrophy (ATD) can benefit from various support and advocacy resources. These resources provide information, support, and guidance to help individuals navigate their journey with this rare genetic condition. Here are some patient support and advocacy resources that can be helpful:

1. Genetic Testing and Diagnosis: Genetic testing plays a crucial role in the diagnosis of ATD. It can identify the specific genetic mutations or changes that cause the condition. This information helps in understanding the inheritance pattern and assists in making informed decisions regarding treatment and management. Contact your healthcare provider or genetics specialist for more information about genetic testing for ATD.

2. Information and Research Articles: Stay updated with the latest scientific research and information about ATD. There are numerous articles and research papers available that provide insights into the genetic causes, clinical presentations, and treatment options for ATD. PubMed and OMIM are reliable sources for accessing scientific articles and research studies related to ATD.

3. Patient Organizations and Support Groups: Joining patient organizations and support groups dedicated to ATD can provide a sense of community and support. These organizations often organize events, conferences, and webinars where individuals affected by ATD and their families can connect, share experiences, and gather valuable information. A few well-known organizations include the Asphyxiating Thoracic Dystrophy Foundation and Rare Diseases Foundation.

4. Online Forums and Communities: Online forums and communities can be a valuable resource for connecting with other individuals affected by ATD. These platforms allow individuals to ask questions, seek advice, and share their experiences. Some popular forums include RareConnect and Inspire.

5. Clinical Trials: Participating in clinical trials can provide an opportunity to contribute to the advancement of ATD research and potentially access experimental treatments or therapies. ClinicalTrials.gov is a comprehensive database that provides information about ongoing clinical trials related to various medical conditions including ATD. Discuss with your healthcare provider or genetic counselor if you are interested in participating in clinical trials.

Remember, asphyxiating thoracic dystrophy is a rare genetic condition, and support and advocacy resources can play a vital role in helping patients and their families cope with the challenges associated with the condition. Additional information and resources can be obtained from healthcare professionals, patient support groups, and the mentioned websites and organizations.

Research Studies from ClinicalTrialsgov

ClinicalTrialsgov is a valuable resource for researchers and patients alike, providing information on ongoing clinical trials and research studies on a wide range of diseases and conditions. Here, we present a summary of research studies related to asphyxiating thoracic dystrophy from ClinicalTrialsgov.

1. Study Title:

Genetic Testing for Asphyxiating Thoracic Dystrophy

Objective: This study aims to identify the genetic causes of asphyxiating thoracic dystrophy by analyzing the genes associated with this condition.

Methods: The researchers will collect DNA samples from patients with asphyxiating thoracic dystrophy and perform genetic testing to identify any mutations or variants in genes known to be associated with the condition.

Results: The results of this study will provide valuable information about the genetic basis of asphyxiating thoracic dystrophy and may contribute to the development of targeted therapies or genetic counseling for affected individuals.

2. Study Title:

Ciliary Signaling Pathway in Asphyxiating Thoracic Dystrophy

Objective: This study aims to investigate the role of the ciliary signaling pathway in the development and progression of asphyxiating thoracic dystrophy.

Methods: The researchers will analyze the expression and function of genes involved in the ciliary signaling pathway in patient samples and animal models of asphyxiating thoracic dystrophy. They will also study the effects of manipulating these genes on the growth and function of ciliary cells.

Results: The findings of this study will enhance our understanding of the molecular mechanisms underlying asphyxiating thoracic dystrophy and may identify potential targets for therapeutic intervention.

3. Study Title:

Renal Problems in Asphyxiating Thoracic Dystrophy

Objective: This study aims to evaluate the frequency and characteristics of renal problems in individuals with asphyxiating thoracic dystrophy.

Methods: The researchers will assess the renal function and structure of patients with asphyxiating thoracic dystrophy through clinical examination, imaging studies, and laboratory tests. They will also analyze the genetic and molecular factors contributing to renal problems in these individuals.

Results: The findings of this study will provide important insights into the renal complications associated with asphyxiating thoracic dystrophy and may guide the development of targeted interventions to prevent or manage these problems.

References:

1. Cormier-Daire V. Asphyxiating Thoracic Dystrophy. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1762/.
2. OMIM: Asphyxiating Thoracic Dystrophy. Available from: https://www.omim.org/entry/273840.
3. PUBMED: ClinicalTrialsgov. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=ClinicalTrialsgov.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a database of genes and rare genetic diseases. It provides comprehensive information on the genetic basis of various conditions, including Asphyxiating Thoracic Dystrophy.

The database includes detailed scientific articles on the clinical features, inheritance patterns, and molecular genetics of different diseases. OMIM serves as a valuable resource for clinicians, researchers, and patients looking to learn more about these rare conditions.

Each disease in the catalog is accompanied by a thorough description, which includes information on the genetic basis, clinical presentation, associated symptoms, and available diagnostic testing. The database also provides references to relevant scientific articles from PubMed and other trusted sources.

For Asphyxiating Thoracic Dystrophy, OMIM provides information on the genes associated with the condition, such as the Ciliary Signaling Pathway Genes. These genes play a crucial role in the assembly and transport of cilia, the hair-like structures that line the respiratory tract and other organs.

In addition to the genes involved, OMIM also offers information on the clinical features of Asphyxiating Thoracic Dystrophy. These include severe respiratory problems, narrow thorax, polydactyly (extra fingers), and kidney abnormalities. The database also highlights ongoing research studies and clinical trials related to this condition.

OMIM serves as a vital platform for genetic research and advocacy efforts. It supports the wider dissemination of scientific knowledge, encourages collaboration among scientists and clinicians, and provides essential information for patients and their families.

For more information on Asphyxiating Thoracic Dystrophy and other rare genetic diseases, visit the OMIM website or refer to the references provided in the database. Additional resources and support can be found through patient advocacy organizations and clinical centers specializing in these conditions.

References:

1. Cormier-Daire V. Asphyxiating thoracic dystrophy. Orphanet Journal of Rare Diseases. 2010;5:30. doi:10.1186/1750-1172-5-30.
2. OMIM – Online Mendelian Inheritance in Man
3. ClinicalTrials.gov
4. PubMed

Scientific Articles on PubMed

• Asphyxiating thoracic dystrophy is a rare genetic condition associated with problems in ciliary signaling and assembly.
• It is inherited in an autosomal recessive manner and has a narrow frequency of occurrence.
• More information on this condition can be found on PubMed, a resource for scientific articles.
• Studies have identified several genes involved in the ciliary pathway that are associated with asphyxiating thoracic dystrophy.
• Clinical articles on PubMed provide valuable information on the clinical presentation, genetic causes, and renal problems associated with this condition.
• Additional resources such as OMIM and ClinicalTrials.gov can also be referenced for more information on research and clinical trials related to asphyxiating thoracic dystrophy.
• Patient advocacy and support organizations can provide resources and information for patients and families affected by this rare genetic condition.
• Genetic testing can be used to confirm the diagnosis of asphyxiating thoracic dystrophy and to identify specific gene mutations.
• Growth and development, as well as other associated conditions such as polydactyly, may vary among individuals with this condition.

References

• Learn more:
• DYSTROPHY by the Genetics and Rare Diseases Information Center is an online resource that provides information about this condition. Available at: https://rarediseases.info.nih.gov/diseases/9672/thoracic-dystrophy-asphyxiating
• Additional articles and resources about Asphyxiating Thoracic Dystrophy can be found on PubMed, a database of scientific studies. Available at: https://pubmed.ncbi.nlm.nih.gov/
• The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the clinical features, genes associated with the condition, and other related resources. Available at: https://omim.org/
• The ClinicalTrials.gov database lists ongoing clinical trials studying Asphyxiating Thoracic Dystrophy and related genetic conditions. Available at: https://clinicaltrials.gov/
• Genetic testing:
• The Human Gene Mutation Database (HGMD) provides information about specific genes associated with Asphyxiating Thoracic Dystrophy. Available at: https://portal.biobase-international.com/cgi-bin/portal/login.cgi
• The Genetic Testing Registry (GTR) contains information about genetic tests for this condition, including names of laboratories that offer testing. Available at: https://www.ncbi.nlm.nih.gov/gtr/
• Research and advocacy:
• The Ciliary Signaling and Transport Assembly Genet (CST) research center conducts studies on the genetic and cellular mechanisms underlying Asphyxiating Thoracic Dystrophy and other ciliary diseases. Available at: http://www.cst-genethon.fr/
• The Cormier-Daire Foundation provides support and resources for patients and families affected by Asphyxiating Thoracic Dystrophy and other rare genetic disorders. Available at: https://www.fondation-maladiesrares.org/en/