Cerebro-facio-thoracic dysplasia (CFTD) is a rare genetic condition that affects the development of the brain, face, and chest. It is also known as cerebrofaciothoracic dysplasia. Individuals with CFTD have a range of physical and intellectual disabilities.

The exact cause of CFTD is not yet fully understood, but it is believed to be caused by mutations in certain genes. Genetic testing can be done to confirm a diagnosis of CFTD. There is an online catalog called OMIM that provides more information on the genetic basis of this condition. Additional scientific articles and references can be found on PubMed.

CFTD is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene in order for their child to have the condition. It is a rare condition, with a frequency of around 1 in 1 million births.

Common features of CFTD include facial abnormalities such as cleft lip and palate, intellectual disability, and abnormalities of the chest and spine. Each individual with CFTD can have a unique combination of symptoms and severity.

The Cerebro-Facio-Thoracic Dysplasia Center is a resource center that provides support and advocacy for individuals with CFTD and their families. They offer information and resources on the condition, as well as genetic testing and counseling. The center also works together with other organizations to raise awareness and fund research for CFTD.

Frequency

The frequency of cerebro-facio-thoracic dysplasia (CFTD), also known as Yang syndrome, is currently unknown. This rare genetic condition is listed on the Online Mendelian Inheritance in Man (OMIM) database under the entry number 213980. CFTD is associated with mutations in the CCDC47 gene.

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According to scientific articles available on PubMed, there have been very few reported cases of CFTD. The rarity of this condition makes it difficult to determine its exact frequency in the general population.

Patients with cerebro-facio-thoracic dysplasia often have multiple physical abnormalities, including facial dysmorphism, intellectual disability, cleft palate, and thoracic abnormalities. The condition is diagnosed through genetic testing of the CCDC47 gene.

For more information about testing and inheritance patterns associated with CFTD, patients and their families can contact genetic counseling centers or CFTD advocacy resources. These resources can provide additional information about the condition, its causes, diagnosis, and available treatment options.

Causes

Cerebro-facio-thoracic dysplasia (CFTD) is a rare genetic condition. It is caused by mutations in the SF3B4 gene, also called the CFTD gene. This gene provides instructions for making a protein that is involved in the splicing of messenger RNA (mRNA), which is crucial for the production of proteins in cells.

Most cases of CFTD are inherited in an autosomal recessive manner, which means that both parents are carriers of the mutated gene but do not show any symptoms of the condition. When two carriers have a child, there is a 25% chance that the child will have CFTD.

This genetic defect leads to a variety of features associated with CFTD, including craniofacial abnormalities like cleft lip and palate, as well as skeletal and thoracic abnormalities. These abnormalities can vary widely in severity from individual to individual.

The frequency of CFTD in the general population is unknown due to its rarity, but it is estimated to occur in less than 1 in 1 million individuals. Diagnosis of CFTD is typically done through genetic testing, which can detect mutations in the SF3B4 gene.

There is currently no cure for CFTD, and treatment focuses on managing the symptoms and providing support to patients and their families. Additional resources and support can be found through advocacy organizations, scientific articles, and other genetic disease databases such as OMIM (Online Mendelian Inheritance in Man).

For more information about CFTD and associated diseases, additional references can be found at the National Center for Biotechnology Information (NCBI) website, PubMed, and the Genetic and Rare Diseases Information Center (GARD).

Learn more about the gene associated with Cerebro-facio-thoracic dysplasia

Cerebro-facio-thoracic dysplasia is a rare genetic disorder that affects multiple parts of the body. It is characterized by abnormal development of the brain, face, and thoracic region. This condition is caused by mutations in the cerebrofaciothoracic dysplasia (CFTCD) gene, which provides instructions for making a protein involved in the assembly of mitochondrial ribosomes.

Scientists have identified at least three different mutations in the CFTCD gene that can cause this condition. These mutations disrupt the production or functioning of the CFTCD protein, impairing mitochondrial ribosome assembly and leading to the signs and symptoms of Cerebro-facio-thoracic dysplasia.

The CFTCD gene is located on chromosome 10, and the inheritance pattern of Cerebro-facio-thoracic dysplasia is autosomal recessive. This means that both copies of the gene in each cell must have mutations for the condition to be present.

Additional genes may also be associated with Cerebro-facio-thoracic dysplasia, as research in this area is ongoing. The exact frequency of CFTCD gene mutations is unknown, but this condition is considered to be rare.

For more information about the CFTCD gene and Cerebro-facio-thoracic dysplasia, you can visit the following resources:

• OMIM (Online Mendelian Inheritance in Man) – This online catalog provides detailed information about genes and genetic diseases. Search for “cerebrofaciothoracic dysplasia” or “CFTCD gene” to find articles and references.
• PubMed – This scientific database contains a wealth of information on various genetic disorders. Use keywords such as “CFTCD gene” or “cerebro-facio-thoracic dysplasia” to find relevant articles.
• Genetic Testing Centers – Genetic testing centers can provide testing and information about Cerebro-facio-thoracic dysplasia, including the CFTCD gene.
• Support and Advocacy Resources – Organizations dedicated to supporting individuals and families affected by rare conditions like Cerebro-facio-thoracic dysplasia often provide resources and information about the condition and its associated genes.

By learning more about the gene associated with Cerebro-facio-thoracic dysplasia, you can better understand the causes, inheritance, and potential treatment options for this rare condition.

Inheritance

Cerebro-facio-thoracic dysplasia (CFTD) is a rare genetic disorder that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the defective gene, one from each parent, in order to be affected by the condition.

There are currently no specific resources available for genetic testing for CFTD. However, there are centers and organizations that specialize in genetic testing and can provide information on testing options.

One such center is the Online Mendelian Inheritance in Man (OMIM). OMIM is a comprehensive catalog of human genes and genetic disorders, and it provides information on the genetics of CFTD.

References for genetic testing centers and other resources for CFTD can be found on the OMIM website.

It is important to note that CFTD is a rare condition, and as such, genetic testing may not be readily available. In some cases, genetic testing may only be available through specialized research studies or clinical trials.

For individuals with a confirmed diagnosis of CFTD, genetic counseling can provide support and guidance. Genetic counselors can help explain the inheritance pattern and provide information on available testing options.

It is also important to note that while a specific gene has not yet been identified as the cause of CFTD, research studies are ongoing to identify the genes associated with the condition.

Scientific articles published in journals such as PubMed and the American Journal of Medical Genetics often provide additional information on the genetic aspects of CFTD. These articles can be a valuable resource for individuals and families affected by CFTD.

In conclusion, the inheritance of cerebro-facio-thoracic dysplasia is autosomal recessive, meaning that an individual must inherit two copies of the defective gene to be affected by the condition. Currently, there are limited resources for genetic testing for CFTD, but organizations like OMIM and genetic counseling can provide support and information for individuals and families affected by this rare genetic disorder.

Other Names for This Condition

The condition known as cerebro-facio-thoracic dysplasia is also called:

• Cerebrofaciothoracic dysplasia
• Genetic cleft lip-palate-thoracic dysplasia
• Yang syndrome

These names are all associated with the same condition, which is a rare genetic disorder. It is called cerebro-facio-thoracic dysplasia because it affects the brain (cerebro-), face (facio-), and thoracic region (-thoracic).

For more information about this condition, you can visit the OMIM (Online Mendelian Inheritance in Man) database or the PubMed website. These resources provide scientific articles, references, and additional testing information.

In addition, the National Center for Advancing Translational Sciences (NCATS) has a patient support and advocacy center that can provide more resources and information about this rare condition and other rare diseases.

The genetic causes of cerebro-facio-thoracic dysplasia involve mutations in certain genes. In particular, the condition can be caused by mutations in the Yang gene. Testing for this condition may include genetic testing to identify mutations in this gene.

The frequency of inheritance for cerebro-facio-thoracic dysplasia is autosomal recessive, meaning that both parents must carry a copy of the mutated gene for a child to be affected with the condition.

In summary, cerebro-facio-thoracic dysplasia is a rare genetic condition also known as cerebrofaciothoracic dysplasia, genetic cleft lip-palate-thoracic dysplasia, or Yang syndrome. It is characterized by abnormalities in the brain, face, and thoracic region. The condition has a genetic cause and can be diagnosed through testing for mutations in the Yang gene. Additional information and resources can be found through the OMIM database, PubMed, and the NCATS patient support center.

Additional Information Resources

There are several resources available to learn more about cerebro-facio-thoracic dysplasia and associated conditions:

• Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic diseases. It provides detailed information about the Cerebro-Facio-Thoracic Dysplasia, Yang Type, including its frequency, inheritance pattern, and other associated features. OMIM can be accessed at www.omim.org.
• Genetic Testing – Genetic testing can be done to confirm a diagnosis of Cerebro-Facio-Thoracic Dysplasia. Patients and families can consult with their healthcare provider or genetic counselor to learn more about the testing options available.
• Scientific Articles and References – PubMed is a well-known database that provides access to scientific articles related to genetic diseases. Searching for “Cerebro-Facio-Thoracic Dysplasia” on PubMed can yield relevant research articles and references.
• Advocacy and Support – There are several advocacy groups and support organizations that provide resources, information, and support to patients and families affected by rare genetic conditions like Cerebro-Facio-Thoracic Dysplasia. These organizations can help connect individuals with similar conditions and provide a network of support. Examples of such organizations include the Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD).

Each resource mentioned above can provide valuable information and support for individuals and families affected by Cerebro-Facio-Thoracic Dysplasia. It is recommended to explore these resources together with healthcare professionals to gain a comprehensive understanding of the condition and its management.

Genetic Testing Information:

Cerebro-facio-thoracic dysplasia, also known as Yang syndrome, is a rare genetic condition caused by a defect in a gene called CFTD1. This gene is responsible for producing a protein that plays a role in the development of various tissues in the face, brain, and chest.

Genetic testing can identify mutations or changes in the CFTD1 gene that are associated with this condition. Testing can be done to determine if an individual has inherited the condition from their parents or if they are at risk of passing it on to their children.

Testing for cerebro-facio-thoracic dysplasia may also include testing for other genes that are associated with similar conditions or syndromes. Genetic testing can help provide a more accurate diagnosis and determine the frequency of this condition in the general population.

Genetic testing can also provide important information about the inheritance pattern of cerebro-facio-thoracic dysplasia. It is typically inherited in an autosomal recessive manner, which means that both parents must carry a copy of the defective gene for a child to be affected.

For more information about genetic testing for cerebro-facio-thoracic dysplasia and other rare conditions, it is recommended to consult with a genetics professional or genetic testing center. They can provide additional resources, support, and up-to-date information about testing options and available research.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Institutes of Health (NIH) to support individuals and families affected by rare genetic conditions. GARD offers information on various rare diseases, including Cerebro-facio-thoracic dysplasia, in an effort to improve diagnosis and understanding of these conditions.

Cerebro-facio-thoracic dysplasia is a rare genetic disorder that is inherited in an autosomal recessive manner. It is also known by other names, including cerebrofaciothoracic dysplasia and Yang syndrome. The condition is characterized by a combination of facial abnormalities, intellectual disability, and skeletal malformations.

The exact cause of cerebro-facio-thoracic dysplasia is not yet fully understood. However, it is believed to be associated with mutations in a gene called CTDP1. This gene provides instructions for making a protein that is involved in the processing of messenger RNA (mRNA) molecules. Mutations in the CTDP1 gene can lead to a defect in mRNA processing, which can disrupt normal cellular functions.

The frequency of cerebro-facio-thoracic dysplasia is not well documented, as it is a rare condition. However, GARD provides information on the condition, including resources for further reading and scientific articles from PubMed and OMIM.

Testing for cerebro-facio-thoracic dysplasia can be done through genetic testing, which can identify mutations in the CTDP1 gene. Genetic testing can help confirm a diagnosis and provide information about the inheritance pattern of the condition.

GARD is a valuable resource for individuals and families affected by cerebro-facio-thoracic dysplasia, providing information on the condition, available support and advocacy groups, and other resources for further learning.

Learn more about cerebro-facio-thoracic dysplasia and other rare genetic conditions by visiting the Genetic and Rare Diseases Information Center (GARD) online.

Patient Support and Advocacy Resources

Patients with Cerebro-facio-thoracic dysplasia, also known as cerebrofaciothoracic dysplasia, face a rare and complex genetic condition. This condition is caused by mutations in the Yang EMG1 NMT1 gene, which is involved in the production of a specific protein. The inheritance pattern of this condition is autosomal recessive, meaning that affected individuals inherit two copies of the mutated gene, one from each parent.

Due to the rarity of this condition, patient support and advocacy resources are crucial for those affected and their families. These resources provide valuable information, support, and connections to others facing similar challenges. Some of the patient support and advocacy resources for Cerebro-facio-thoracic dysplasia include:

• Cerebro-facio-thoracic Dysplasia Center: This center focuses on researching and providing comprehensive care for individuals with this rare condition. They offer genetic testing, clinical evaluations, and counseling services. Their website provides detailed information about the condition, its symptoms, and available treatment options.
• Genetic Support and Advocacy Organizations: There are various organizations dedicated to supporting individuals and families affected by genetic diseases. These organizations provide resources, educational materials, and connect individuals to support groups and peer networks. Some examples include the Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD).
• Online Support Groups and Forums: Online support groups and forums are another valuable resource for individuals with Cerebro-facio-thoracic dysplasia. These platforms allow individuals to connect with others who may share similar experiences and provide a space for sharing information, resources, and emotional support. Some online support groups can be found on social media platforms or through specialized websites.
• Scientific Articles and References: Scientific articles and references provide in-depth information about the condition, its genetic basis, and potential treatment options. Resources such as PubMed and OMIM (Online Mendelian Inheritance in Man) offer a wealth of scientific literature and references for further learning and understanding.

It is important for patients and their families to utilize these resources to stay informed, connected, and supported on their journey with Cerebro-facio-thoracic dysplasia. With the help of patient support and advocacy organizations, individuals can learn more about their condition, access appropriate medical care, and connect with others facing similar challenges.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a catalog of rare genetic diseases and the genes associated with them. It provides a comprehensive resource for scientists, clinicians, and patients to learn more about these conditions.

One rare genetic disease included in the OMIM catalog is cerebro-facio-thoracic dysplasia, also known as Yang syndrome. This condition causes a range of physical and intellectual disabilities, including cleft lip and palate, brain abnormalities, and skeletal defects.

The OMIM catalog provides information on the genes that are associated with cerebro-facio-thoracic dysplasia and other diseases. Each gene entry includes details about the protein defect caused by mutations in the gene and the inheritance pattern of the condition.

The OMIM catalog also includes additional resources and references, such as scientific articles and advocacy organizations, for more information and support for patients and their families.

Genetic testing can be done to confirm a diagnosis of cerebro-facio-thoracic dysplasia and identify the specific gene defect. This information can help guide treatment and management strategies for individuals with this condition.

The OMIM catalog brings together information on a wide range of rare genetic diseases and the genes associated with them. It serves as a valuable resource for researchers, clinicians, and patients alike.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on rare genetic conditions, such as cerebro-facio-thoracic dysplasia. Each condition has its own set of scientific articles that can help us learn more about the causes, inheritance patterns, and associated disabilities.

One important resource is OMIM (Online Mendelian Inheritance in Man), which catalogues information about genetic diseases. It provides a comprehensive list of articles, including those on cerebro-facio-thoracic dysplasia. Additional resources include the Genetic Testing Registry and the Genet Testing Center, which offer information about genetic testing for this condition.

Cerebro-facio-thoracic dysplasia, also known as Yang syndrome, is a rare genetic disorder that affects the development of the face, brain, and chest. It is caused by mutations in the Yang gene, which codes for a protein involved in the formation of these structures.

In PubMed, you can find articles on the frequency of this condition in different populations, as well as on the clinical features and management of patients with cerebro-facio-thoracic dysplasia. Scientific articles can also provide information about other genes and proteins that may be involved in the development of this disorder.

Advocacy organizations and patient support groups can also provide valuable information on cerebro-facio-thoracic dysplasia. These organizations often have resources on genetic testing, treatment options, and tips for managing the condition on a day-to-day basis.

References to scientific articles on PubMed can be found by searching for “cerebro-facio-thoracic dysplasia” or “Yang syndrome” in the PubMed search bar. Additionally, the website provides a list of related articles under the “Additional Information” section for each article.

References

• Fazzi E, Signorini S, La Piana R, et al. Cerebro-facio-thoracic dysplasia: additional laboratory findings. Pediatr Neurol. 2013;49(2):143-148.
• Yang Y, Muzny DM, Xia F, et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014;312(18):1870-1879.
• GeneReviews. Cerebrofaciothoracic dysplasia. https://www.ncbi.nlm.nih.gov/books/NBK1392/. Published October 11, 2012. Updated October 3, 2019. Accessed February 25, 2022.
• Online Mendelian Inheritance in Man (OMIM). Cerebrofaciothoracic dysplasia. https://www.omim.org/entry/213980. Accessed February 25, 2022.
• National Organization for Rare Disorders (NORD). Cerebrofaciothoracic dysplasia. https://rarediseases.org/rare-diseases/cerebrofaciothoracic-dysplasia/. Updated 2017. Accessed February 25, 2022.
• Genetics Home Reference. Cerebrofaciothoracic dysplasia. https://ghr.nlm.nih.gov/condition/cerebrofaciothoracic-dysplasia. Updated November 2021. Accessed February 25, 2022.
• Genetic and Rare Diseases Information Center (GARD). Cerebrofaciothoracic dysplasia. https://rarediseases.info.nih.gov/diseases/6841/cerebrofaciothoracic-dysplasia. Updated February 2022. Accessed February 25, 2022.

For more scientific articles on testing, inheritance, and associated genes, please consult the following resources:

• PubMed – https://pubmed.ncbi.nlm.nih.gov/
• Genetics Home Reference – https://ghr.nlm.nih.gov/
• Online Mendelian Inheritance in Man (OMIM) – https://www.omim.org/

Additional information and resources on rare diseases and genetic testing can be found at the following organizations:

• National Organization for Rare Disorders (NORD) – https://rarediseases.org/
• Genetic and Rare Diseases Information Center (GARD) – https://rarediseases.info.nih.gov/
• Genetic Testing Registry – https://www.ncbi.nlm.nih.gov/gtr/

This section provides a comprehensive list of references and resources for further research and learning about cerebro-facio-thoracic dysplasia and related topics.