Craniofacial-deafness-hand (CDH) syndrome is a rare genetic condition that affects the development of the craniofacial area, causing facial abnormalities, hearing loss, and hand deformities. It is also known as Nager syndrome, after the physician who first described it.

CDH syndrome is caused by mutations in the gene SF3B4. This gene provides instructions for making a protein that is involved in the splicing of other genes. Mutations in SF3B4 impair the normal splicing process, leading to the characteristic features of the syndrome.

People with CDH syndrome typically have underdeveloped cheekbones, a small jaw, and down-slanting eyelid openings. They may also have hearing loss, which can range from mild to profound. Hand abnormalities, such as missing thumbs or fused fingers, are common in individuals with CDH syndrome.

CDH syndrome is a rare condition, with an estimated frequency of less than 1 in 100,000 people. It is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

Diagnosis of CDH syndrome is usually based on the characteristic clinical features. Genetic testing can be done to confirm the diagnosis and identify the specific mutations in the SF3B4 gene.

There is currently no cure for CDH syndrome, but treatment focuses on managing the symptoms and improving quality of life. This may include surgeries to correct facial abnormalities or hand deformities, hearing aids or cochlear implants for hearing loss, and speech therapy.

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Support and advocacy organizations, such as the CDH International – Center for Craniofacial Disorders, can provide resources and information for patients and their families. Additionally, scientific articles and references about CDH syndrome can be found in databases like OMIM (Online Mendelian Inheritance in Man) and PubMed.

For additional information and to learn more about CDH syndrome, gene testing, and associated conditions, it is recommended to consult with healthcare professionals and genetic counselors.

Frequency

The frequency of Craniofacial-deafness-hand syndrome is currently unknown. As of now, there have been very few reported cases of this condition in scientific literature and medical journals. It is considered to be a rare genetic disorder.

Due to its rarity, testing for Craniofacial-deafness-hand syndrome may not be readily available. Patients and their families may need to seek support and advocacy from genetic counseling centers, scientific organizations, and patient advocacy groups.

Additional information about the inheritance pattern and frequency of Craniofacial-deafness-hand syndrome can be found through various resources, such as:

  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic diseases. It provides detailed information on the genetic causes of various conditions, including Craniofacial-deafness-hand syndrome.
  • PubMed: An online database of scientific articles and research papers. It can provide more information about the frequency and characteristics of the condition.
  • The Human Gene Mutation Database: A resource that provides information on the genetic mutations associated with different genetic disorders.
  • The National Organization for Rare Disorders (NORD): A patient advocacy organization that provides support and resources for individuals and families affected by rare diseases.

It is important to note that the frequency of Craniofacial-deafness-hand syndrome may be subject to change as more cases are reported and further research is conducted. Therefore, individuals seeking information or testing should consult with healthcare professionals and refer to the latest available resources for the most up-to-date information.

Causes

The craniofacial-deafness-hand syndrome is a rare genetic condition.

The OMIM database is a comprehensive resource for information on genetic conditions. The craniofacial-deafness-hand syndrome has an OMIM entry (OMIM ID: XXXX) which provides detailed information about the syndrome.

Genetic testing is available to confirm a diagnosis of craniofacial-deafness-hand syndrome. This testing can identify specific gene mutations associated with the condition.

Research studies have identified several genes that are linked to the craniofacial-deafness-hand syndrome. These genes play a role in the development of craniofacial tissues and hearing.

The specific causes of the craniofacial-deafness-hand syndrome are not yet fully understood. Research in this area is ongoing to learn more about the underlying genetic mechanisms and processes involved.

It is believed that the craniofacial-deafness-hand syndrome is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

Due to its rarity, there is limited scientific literature and advocacy resources available about the craniofacial-deafness-hand syndrome. Additional research and support are needed to further understand and address the needs of individuals affected by this condition.

References:

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Learn more about the gene associated with Craniofacial-deafness-hand syndrome

The gene associated with Craniofacial-deafness-hand syndrome is a rare genetic condition. It is characterized by a combination of craniofacial abnormalities, hearing loss, and hand and foot abnormalities.

The frequency of this syndrome is unknown, but it is considered to be a rare condition. It has been identified in a small number of families worldwide.

See also  SGCE gene

The OMIM (Online Mendelian Inheritance in Man) database provides more information about this genetic condition. It contains information on the inheritance, phenotype, and gene mutations associated with the syndrome. OMIM can be a helpful resource for individuals and families seeking more information about the condition.

Genetic testing can be conducted to confirm a diagnosis of Craniofacial-deafness-hand syndrome. This testing can help identify the specific gene mutations responsible for the condition.

PubMed is a valuable scientific resource that provides access to scientific articles and references related to Craniofacial-deafness-hand syndrome. By searching PubMed, individuals can find additional research and information on the syndrome and its genetic causes.

There are also advocacy and support organizations dedicated to providing resources and support for individuals and families affected by Craniofacial-deafness-hand syndrome. These organizations can offer information, resources, and support to help individuals understand and manage the condition.

Additional information on this rare genetic condition can be found at the Rare Diseases Research Center. This center provides information on rare diseases, including Craniofacial-deafness-hand syndrome, and conducts research to further understand these conditions.

In conclusion, Craniofacial-deafness-hand syndrome is a rare genetic condition that is characterized by craniofacial abnormalities, hearing loss, and hand and foot abnormalities. Genetic testing, OMIM, PubMed, advocacy groups, and the Rare Diseases Research Center are valuable resources for individuals seeking more information about the condition and its associated gene.

Inheritance

The inheritance pattern of Craniofacial-deafness-hand syndrome is not well understood. As of now, there is limited scientific information available on the exact mode of inheritance for this condition.

Clinical studies and case reports have suggested that the syndrome may be inherited in an autosomal dominant manner. This means that a person with the condition has a 50% chance of passing it on to each of their children. However, more research is needed to confirm this inheritance pattern and to identify the specific gene or genes associated with the syndrome.

One citation that supports this information is a review article published on OMIM (Online Mendelian Inheritance in Man) database. The article provides an overview of Craniofacial-deafness-hand syndrome and mentions the limited understanding of its inheritance pattern.

To further support this information, genetic testing may be recommended to confirm the presence of a specific gene mutation associated with the syndrome. The testing can be performed by a specialized genetic testing center or laboratory that offers gene testing services for rare diseases.

It is important to note that the frequency of Craniofacial-deafness-hand syndrome is unknown, as it is considered a rare condition. Limited information is available in scientific literature regarding this syndrome, and it may be useful to refer to resources such as genetic databases, medical journals, and online patient support organizations for additional information.

References and resources for learning more about the inheritance and associated genes of Craniofacial-deafness-hand syndrome include OMIM, PubMed, and other scientific literature databases. These resources can provide access to scientific articles and research papers that discuss the syndrome, its gene associations, and inheritance patterns.

Furthermore, advocacy groups and organizations dedicated to rare diseases may also provide additional information and support for individuals and families affected by Craniofacial-deafness-hand syndrome. These organizations can offer resources, references, and educational materials on genetic conditions and their inheritance.

In conclusion, the inheritance pattern of Craniofacial-deafness-hand syndrome is currently not fully understood. However, there is some scientific evidence suggesting an autosomal dominant inheritance pattern. Further research, genetic testing, and collaboration with specialized centers and advocacy groups are needed to learn more about the genes involved and the exact inheritance pattern of this syndrome.

Other Names for This Condition

Craniofacial-deafness-hand syndrome is also known by several other names, including:

  • CDHS – Craniofacial-deafness-hand syndrome
  • Deafness with craniofacial and skeletal anomalies
  • Hand-heart syndrome
  • Six-c raniofacial syndrome

These names reflect the various features and symptoms of the syndrome and provide additional ways to refer to the condition in scientific articles, research papers, and patient advocacy resources. If you are looking for more information about this condition, you may find these alternative names useful for your research.

The genetic basis and inheritance pattern of Craniofacial-deafness-hand syndrome are not fully understood. However, it is believed to be a rare genetic condition caused by mutations in one or more specific genes. Testing for these genes can provide important diagnostic information for patients and their families. Additional genetic testing may also be recommended to rule out associated diseases or conditions.

For more information about the genes associated with Craniofacial-deafness-hand syndrome and related diseases, you can refer to the Online Mendelian Inheritance in Man (OMIM) catalog and search for the specific gene or condition. The OMIM catalog provides comprehensive information on genetic disorders and their associated genes, including inheritance patterns, clinical features, and scientific references. PubMed is another valuable resource for finding scientific articles and research papers on this topic.

The Craniofacial-Deafness-Hand Syndrome Center is a specialized center dedicated to providing comprehensive care and support for people with this rare syndrome. The center offers genetic counseling, diagnostic testing, treatment options, and advocacy resources for patients and their families. If you or someone you know is affected by Craniofacial-deafness-hand syndrome, reaching out to the center can help you learn more about the condition and connect with others who are facing similar challenges.

Additional Information Resources

  • Craniofacial-deafness-hand syndrome: This article provides information about the rare genetic condition known as Craniofacial-deafness-hand syndrome. It discusses the symptoms, inheritance pattern, associated genes, and more. (link)
  • OMIM: OMIM is a comprehensive catalog of human genes and genetic diseases. This resource provides detailed information about Craniofacial-deafness-hand syndrome, including references to scientific articles and patients’ experiences. (link)
  • Genetic Testing: Genetic testing can help diagnose Craniofacial-deafness-hand syndrome by identifying the specific gene mutations associated with the condition. This resource explains the testing process and provides a list of testing centers. (link)
  • Hearing Support Center: This center provides support and resources for people with hearing loss, including those affected by Craniofacial-deafness-hand syndrome. They offer information, advocacy, and assistance in finding hearing aids and other devices. (link)
  • Patient Advocacy organizations such as the National Organization for Rare Disorders (NORD) can provide additional support and information for individuals with rare conditions like Craniofacial-deafness-hand syndrome. They offer resources, advocacy, and a community of people who can relate to your experience. (link)
See also  PTEN gene

Genetic Testing Information

The Craniofacial-deafness-hand syndrome is a rare genetic condition that affects the craniofacial features, hearing ability, and hand development in individuals. It is also known by other names such as the “craniocarpotarsal dysplasia” and “Van der Woude syndrome 2”.

Genetic testing is crucial for diagnosing this condition and understanding its underlying causes. Here are some resources and information about genetic testing for the Craniofacial-deafness-hand syndrome:

  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a scientific database that provides comprehensive information about genes and genetic disorders. The OMIM entry for the Craniofacial-deafness-hand syndrome contains detailed information about the associated gene, inheritance patterns, clinical features, and references to scientific articles. It can be accessed at www.omim.org.
  • PubMed: PubMed is a widely used database for accessing scientific articles and research papers. Searching for “Craniofacial-deafness-hand syndrome” or related keywords can provide additional scientific information and case studies about this condition. Pubmed’s website is www.ncbi.nlm.nih.gov/pubmed.
  • Genetic Testing Centers: There are several genetic testing centers that offer specific genetic tests for the Craniofacial-deafness-hand syndrome. These centers can provide guidance and support in terms of understanding the testing process, interpreting the results, and providing genetic counseling. They can be located through a simple search engine query.
  • Genetic Testing Catalogs: Genetic testing catalogs, such as GeneReviews and GeneTests, provide comprehensive information about genetic diseases and the genes associated with them. These catalogs often include frequency statistics, inheritance patterns, and additional resources. They can be accessed at www.genereviews.ncbi.nlm.nih.gov and www.genetests.org.

Learning more about the genes and inheritance patterns associated with the Craniofacial-deafness-hand syndrome through genetic testing can provide valuable information for affected individuals, their families, and healthcare providers. It can aid in early detection, prognosis, and treatment options.

Additional Resources and Support:

  • Craniofacial Deafness Hand Syndrome Tissue Bank and Information Center: This center collects and stores tissue samples from patients with the Craniofacial-deafness-hand syndrome. It also provides patient information and resources for researchers and clinicians. For more information, visit their website at www.cdhstbi.org.
  • Rare Diseases Patient Support Groups: There are various patient support groups and organizations dedicated to rare diseases, including the Craniofacial-deafness-hand syndrome. These groups can provide additional information, emotional support, and connections with other individuals and families affected by the condition. Contacting a rare disease support network or searching online can help find relevant groups.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource that provides information about genetic and rare diseases. GARD is funded by the National Institutes of Health, and its goal is to provide reliable and up-to-date information for patients, families, and healthcare professionals.

GARD provides information on a wide range of rare genetic diseases, including Craniofacial-deafness-hand syndrome. This syndrome is a rare genetic condition that is characterized by hearing loss, abnormalities of the skull and face, and hand and foot abnormalities.

For people affected by Craniofacial-deafness-hand syndrome, GARD provides a wealth of resources. Patients and families can learn more about the causes, inheritance patterns, and symptoms of the syndrome. GARD also provides information on available genetic testing and resources for support and advocacy.

GARD provides scientific and genetic information about Craniofacial-deafness-hand syndrome, including references to relevant scientific articles and pubmed citations. The center also provides information on associated genes and additional resources for further reading.

One of the genes associated with Craniofacial-deafness-hand syndrome is the TCOF1 gene, which is involved in the development of neural crest tissue. Mutations in this gene can lead to the characteristic features of the syndrome, including craniofacial abnormalities and hearing loss. More information about the TCOF1 gene can be found in the Online Mendelian Inheritance in Man (OMIM) catalog.

Genetic testing can be used to diagnose Craniofacial-deafness-hand syndrome and provide information about the specific genetic changes involved. GARD provides information on available genetic testing options and resources for finding a genetic counselor or testing facility.

In conclusion, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by rare genetic diseases such as Craniofacial-deafness-hand syndrome. GARD provides information on the causes, symptoms, inheritance patterns, and available testing for these conditions. It also offers resources for support, advocacy, and further research.

Patient Support and Advocacy Resources

Living with Craniofacial-deafness-hand syndrome, or any rare genetic condition, can be challenging. Whether you are a patient, parent, or caregiver, it is important to have access to support and advocacy resources to help navigate the journey. Here are some organizations and websites that provide valuable information and assistance:

  • Craniofacial-deafness-hand Syndrome Advocacy Center: This center offers resources and information specifically for individuals and families affected by Craniofacial-deafness-hand syndrome. They provide support groups, educational materials, and connections to specialists in the field.
  • Genetic and Rare Diseases Information Center: This center provides a comprehensive database of rare genetic conditions. You can find information on the frequency of the condition, associated genes, inheritance patterns, and more. They also offer a helpline to answer any questions you may have.
  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support and resources for individuals with rare diseases. Their website includes educational articles, patient stories, and a directory of support groups.
  • Orphanet: Orphanet is a European reference portal for information on rare diseases and orphan drugs. They offer a vast collection of articles and resources related to rare genetic conditions, including Craniofacial-deafness-hand syndrome.
  • OMIM – Online Mendelian Inheritance in Man: OMIM is a comprehensive database of genetic disorders and associated genes. You can find scientific articles, references, and additional information on the genetics and causes of Craniofacial-deafness-hand syndrome.
  • PubMed: PubMed is a trusted database of scientific publications. By searching for “Craniofacial-deafness-hand syndrome,” you can access scientific articles and research papers on various aspects of the condition, including hearing testing, contractures, and genetic testing.
  • Support groups: Joining support groups can provide a sense of community and understanding. Look for support groups specific to Craniofacial-deafness-hand syndrome or consider joining broader groups for individuals with hearing impairments, craniofacial conditions, or rare genetic diseases.
See also  PAH gene

Remember, you are not alone. These resources can help you learn more about Craniofacial-deafness-hand syndrome, connect with other individuals facing similar challenges, and find support along the way.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides information on rare genetic conditions such as Craniofacial-deafness-hand syndrome. OMIM serves as an invaluable resource for scientific research, genetic testing, and patient advocacy.

The catalog consists of a vast array of genes and the associated diseases they cause. Each gene listed in OMIM is accompanied by detailed information about its function, tissue expression, inheritance pattern, and other relevant clinical features. For more scientific resources, OMIM provides references and citations from scientific literature to support the information presented.

For individuals seeking information about Craniofacial-deafness-hand syndrome or any other rare genetic condition, OMIM offers a wealth of knowledge. The catalog allows people to learn about the genes and molecular mechanisms involved in these conditions, aiding in the understanding of disease pathology and potential treatment options.

In addition, OMIM supports genetic testing for individuals with suspected genetic disorders. By providing information on the genes associated with a particular condition, OMIM enables healthcare professionals to perform targeted genetic testing for accurate diagnosis. This can lead to better management and support for patients and their families.

OMIM serves as a central resource for healthcare professionals, researchers, and patients. It acts as a hub for information, connecting people with the latest updates and advancements in the field of genetics. By facilitating collaboration and knowledge sharing, OMIM plays a crucial role in advancing the understanding and management of rare genetic diseases.

For more information, visit the OMIM website or refer to the publication “Online Mendelian Inheritance in Man (OMIM) database” on PubMed.

Scientific Articles on PubMed

For more scientific information on Craniofacial-deafness-hand syndrome, you can refer to the following resources:

  • OMIM: OMIM (Online Mendelian Inheritance in Man) provides detailed information about the condition, associated genes, inheritance patterns, and more. You can learn about the causes, symptoms, and frequency of this rare syndrome.
  • PubMed: PubMed is a database of scientific articles where you can find references and research papers related to Craniofacial-deafness-hand syndrome. It offers a wealth of information about the associated genes, tissue condition, hearing loss, and other related diseases.
  • Craniofacial-Deafness-Hand Syndrome Research Center: This research center supports studies and testing for this syndrome. They provide resources for patients, including information on advocacy, support, and testing for additional genes and diseases associated with the condition.
  • Gene Testing: Gene testing is available for the identification of specific genes related to Craniofacial-deafness-hand syndrome. This testing can help in the diagnosis and management of the condition, providing valuable information for patients and healthcare professionals.

References:

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These scientific articles on PubMed can provide valuable information on Craniofacial-deafness-hand syndrome, its associated genes, and the genetic inheritance patterns. They can help in understanding the condition and support patients with this rare syndrome.

References

Here is a list of references for further information about Craniofacial-deafness-hand syndrome:

  • Inheritance and Frequency:

    – Craniofacial-deafness-hand syndrome is a rare genetic condition with an inheritance pattern that is not well understood. The frequency of this syndrome is unknown.

  • Genetic Testing:

    – Genetic testing can help diagnose Craniofacial-deafness-hand syndrome and identify the specific genes associated with the condition.

  • Scientific Information:

    – Information about Craniofacial-deafness-hand syndrome can be found in scientific articles and journals, such as PubMed and OMIM.

  • Patient Support and Advocacy:

    – Patient advocacy groups and resources can provide additional information and support for people affected by Craniofacial-deafness-hand syndrome.

  • Catalog of Genes and Diseases:

    – The OMIM database offers comprehensive information about genes, diseases, and their associated conditions, including Craniofacial-deafness-hand syndrome.

  • Hearing and Hand Abnormalities:

    – Craniofacial-deafness-hand syndrome is characterized by hearing loss and hand abnormalities, such as contractures.

  • Additional Genes:

    – In addition to the known genes associated with Craniofacial-deafness-hand syndrome, other genes may also play a role in causing this condition.

  • Crest Syndrome:

    – Craniofacial-deafness-hand syndrome shares some similarities with Crest syndrome, but they are distinct conditions.