Townes-Brocks Syndrome is a rare genetic condition that affects multiple parts of the body. It is named after the two geneticists, Townes and Brocks, who first described the syndrome. This condition is characterized by the presence of thumb abnormalities, ear malformations, and other birth defects.
The frequency of Townes-Brocks Syndrome is quite low, with only a few hundred cases reported worldwide. It is inherited in an autosomal dominant manner, which means that a person with the syndrome has a 50% chance of passing it on to their children. The syndrome is caused by mutations in the SALL1 gene, which is responsible for the normal development and function of various organs and tissues.
Testing for Townes-Brocks Syndrome involves analyzing the SALL1 gene and looking for mutations or other genetic changes associated with the condition. This testing can be done using a variety of methods, including DNA sequencing and genetic screening. By testing these genes and identifying the specific mutations, doctors can make a more accurate diagnosis and provide appropriate treatment and support for the affected individuals.
For more information about Townes-Brocks Syndrome, there are several resources available. The OMIM database provides additional scientific information about the syndrome, including references to research articles and other publications. The Seattle Children’s Hospital and the Genetic Testing Registry also provide information and support for patients and families affected by this condition.
Frequency
Townes-Brocks Syndrome is a rare condition, with an estimated frequency of 1 in 250,000 to 1 in 1,000,000 people. It is caused by mutations in the SALL1 gene on chromosome 16, or in other genes that contribute to the condition.
Additional genes may also be associated with Townes-Brocks Syndrome, and more research is needed to fully understand the genetic basis of this condition. Truncated mutations in the SALL1 gene are often found in patients with Townes-Brocks Syndrome.
There is limited information about the exact frequency of these additional genes, making it difficult to determine the overall frequency of Townes-Brocks Syndrome caused by mutations in genes other than SALL1.
A study by Botzenhart et al. found that about 45% of patients with Townes-Brocks Syndrome had mutations in the SALL1 gene, while the remaining patients had mutations in other genes. The prevalence of these other genes is not well-documented, and more research is needed to determine their frequency.
The Townes-Brocks Syndrome Foundation, an advocacy and support center for individuals with this condition, provides resources for learning more about the causes, symptoms, and treatments of Townes-Brocks Syndrome. They also offer genetic testing for the SALL1 gene mutations.
References to scientific articles on PubMed and OMIM, as well as genetic testing information, can be found on the Townes-Brocks Syndrome Foundation’s website.
Townes-Brocks Syndrome is characterized by a variety of features, including ear abnormalities, thumb malformations, and foot deformities. These features may vary within individuals, and the severity of the condition can also range from mild to severe.
It is important to note that some of these features, such as thumb abnormalities, can be seen in individuals without Townes-Brocks Syndrome. Therefore, a clinical diagnosis based on a combination of features is necessary to confirm the condition.
The inheritance pattern of Townes-Brocks Syndrome is autosomal dominant, meaning that an affected individual has a 50% chance of passing the condition on to each of their children.
Overall, Townes-Brocks Syndrome is a rare condition with a limited number of reported cases. Further research is needed to better understand the frequency of the condition and the specific genes that contribute to its development.
Causes
Townes-Brocks Syndrome (TBS) is a rare genetic condition with scientific origins on the Towne’s Syndrome Database, a research center in Seattle. The syndrome was first described by Townes and Brocks in 1972 and since then has been identified in individuals from different countries and populations.
TBS is believed to have an autosomal dominant pattern of inheritance, which means that an affected individual has a 50% chance of passing the condition on to each of their children. However, it is important to note that in approximately 30% of cases, TBS occurs due to a de novo mutation, meaning that it arises spontaneously in an individual with no family history of the syndrome.
Currently, two genes have been identified to contribute to the development of TBS: SALL1 and SALL4. These genes provide instructions for making proteins that play a role in the normal development and function of various tissues and organs in the body.
Alterations in the SALL1 gene are associated with a higher frequency of TBS, while alterations in the SALL4 gene are found in a smaller number of TBS cases. Mutations in these genes can disrupt the normal function of the proteins they produce, leading to the characteristic features and symptoms of TBS.
Diagnosis of TBS is typically made through clinical evaluation and genetic testing. Genetic testing can identify specific alterations in the SALL1 or SALL4 genes, providing definitive confirmation of a TBS diagnosis. However, it is important to note that not all individuals with TBS will have detectable mutations in these genes, suggesting that there may be other genetic causes yet to be identified.
For patients and families affected by TBS, support and additional information can be found through various resources and advocacy organizations. These organizations offer education, support, and resources to help individuals navigate life with TBS.
For more information on Townes-Brocks Syndrome, including symptoms, treatment options, and current research, please refer to the following references:
- OMIM database: https://www.omim.org/entry/107330
- PubMed articles on Townes-Brocks Syndrome: https://pubmed.ncbi.nlm.nih.gov/?term=Townes-Brocks+Syndrome
- Foot Catalog: https://www.footcatalog.org/syndrome/townes-brocks-syndrome
Learn more about the gene associated with Townes-Brocks Syndrome
Townes-Brocks Syndrome is a rare genetic condition that affects various parts of the body, including the thumbs and ears. It is caused by mutations in the SALL1 gene.
The SALL1 gene, also known as the spalt-like transcription factor 1 gene, is located on chromosome 16q12.1. It is responsible for providing instructions for the production of a protein that is involved in the development of various organs and tissues during embryonic development.
Mutations in the SALL1 gene can disrupt the normal function of the protein it produces, leading to the symptoms associated with Townes-Brocks Syndrome. These symptoms can vary greatly from person to person, but commonly include thumb abnormalities, ear malformations, and kidney dysfunction.
Understanding the role of the SALL1 gene in Townes-Brocks Syndrome is important for both medical professionals and individuals affected by the condition. This information can help in the diagnosis of the syndrome and in providing appropriate medical management and support.
Genetic testing is available to confirm a diagnosis of Townes-Brocks Syndrome and to detect mutations in the SALL1 gene. This testing can be done using a variety of methods, such as sequencing or deletion/duplication analysis.
Additional resources, such as support groups and advocacy organizations, can provide more information about Townes-Brocks Syndrome and connect individuals and families affected by the condition. These resources can offer support, educational materials, and opportunities for networking and sharing experiences.
For more scientific articles and information about the SALL1 gene and its association with Townes-Brocks Syndrome, there are several reputable sources available. Some of these include OMIM (Online Mendelian Inheritance in Man), PubMed, and the GeneReviews website from the University of Washington in Seattle.
References:
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Botzenhart, E. M., & Green, A. (2005). Townes-Brocks Syndrome. In R. A. Pagon, M. P. Adam, H. H. Ardinger, S. E. Wallace, A. Amemiya, L. J. Bean, … & K. Stephens (Eds.), GeneReviews((R)). University of Washington, Seattle.
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Townes, P. L., & Brocks, E. R. (1972). Hereditary syndactyly and its association with ear malformations, urethral atresia, hypertelorism, and other congenital defects. The Journal of pediatrics, 80(5), 729-734.
Inheritance
Townes-Brocks Syndrome is a rare genetic condition that is associated with mutations in the SALL1 gene. These mutations are inherited in an autosomal dominant manner, which means that a person with the syndrome has a 50% chance of passing the condition on to their offspring.
When a person has Townes-Brocks Syndrome, their SALL1 gene is mutated and does not function properly. This gene normally helps to regulate the development of various organs and tissues within the body, including the ears, kidneys, limbs, and anus. The specific effects of the mutation can vary from person to person, resulting in a wide range of symptoms.
There are several different mutations that can cause Townes-Brocks Syndrome, and each mutation may lead to a slightly different set of symptoms. Some mutations result in a truncated or nonfunctional SALL1 protein, while others may affect the protein’s ability to bind to DNA and regulate gene expression. Additionally, there may be other genes and factors that contribute to the development of the syndrome, but more research is needed to understand their role.
Genetic testing can be helpful in diagnosing Townes-Brocks Syndrome and identifying the specific mutation in an affected individual. This testing can also be used to determine if a patient’s family members are at risk for inheriting the syndrome. Testing may involve sequencing the SALL1 gene, as well as other genes that are known to be associated with similar conditions.
Genetic counseling and support are important for individuals and families affected by Townes-Brocks Syndrome. Advocacy organizations and patient support groups can provide valuable resources and information about the condition. These resources may include educational materials, articles, and references for additional scientific articles and publications.
In rare cases, individuals may have Townes-Brocks Syndrome without any identified mutation in the SALL1 gene, suggesting that there may be other genes or factors involved in the development of the condition. Therefore, it is important for researchers to continue studying this syndrome to learn more about its causes and inheritance patterns.
Other Names for This Condition
Townes-Brocks Syndrome is a rare genetic condition also known by the following names:
- Renal-ear-anomalies-radial-dystrophy syndrome
- Renal-coloboma syndrome
- TBS
- REN-CAE syndrome
- Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
This condition is cataloged in scientific literature as “TBS” or “Townes-Brocks Syndrome”. It is a rare genetic condition with a truncated thumb and associated anomalies. Additional information can be found on OMIM (Online Mendelian Inheritance in Man) and PubMed. Genetic testing can confirm the presence and causes of TBS.
Resources for patients and families affected by Townes-Brocks Syndrome include support from advocacy groups and specialized centers. These resources can provide more information about the condition, genetic testing, and available treatments.
Townes-Brocks Syndrome is often associated with other foot and hand abnormalities. The frequency of this condition is relatively low, making it a rare genetic disorder. Researchers are still studying the genes and proteins that contribute to this syndrome and making new discoveries.
Several articles have been published on the topic of Townes-Brocks Syndrome, which provide valuable insights into the condition and its associated features. Some of these articles explore the function of specific genes and proteins within the context of the syndrome.
It is important to note that while TBS is rare, there are other similar conditions and diseases that can cause similar symptoms. Some of these conditions have overlapping features with Townes-Brocks Syndrome. Genetic testing and thorough medical evaluation can help differentiate between these conditions and determine the appropriate course of treatment.
For more information on Townes-Brocks Syndrome and related conditions, please refer to the referenced resources and articles.
Additional Information Resources
Below you will find a list of additional information and resources about Townes-Brocks Syndrome:
- The Botzenhart Foot Center: This center provides information on the different foot abnormalities that can be associated with Townes-Brocks Syndrome.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database contains scientific references and information on the genes associated with Townes-Brocks Syndrome.
- Seattle Children’s Hospital: Seattle Children’s Hospital provides information about Townes-Brocks Syndrome, including causes, symptoms, testing, inheritance, and more.
- Rare Diseases Advocacy: This organization provides support and advocacy for people with rare diseases, including Townes-Brocks Syndrome.
- Catalog of Human Genes and Genetic Disorders: This catalog provides information on the genes and genetic disorders associated with Townes-Brocks Syndrome.
- PubMed: PubMed is a database of scientific articles that can be searched for more information on Townes-Brocks Syndrome and related topics.
These resources can provide more information on the condition, associated genes, testing, and other aspects of Townes-Brocks Syndrome. They can also be helpful for learning about the frequency of the condition, contributing proteins and genes, and the normal function of the associated genes.
| Resource | Description |
|---|---|
| The Botzenhart Foot Center | This center provides information on the different foot abnormalities that can be associated with Townes-Brocks Syndrome. |
| OMIM | The Online Mendelian Inheritance in Man (OMIM) database contains scientific references and information on the genes associated with Townes-Brocks Syndrome. |
| Seattle Children’s Hospital | Seattle Children’s Hospital provides information about Townes-Brocks Syndrome, including causes, symptoms, testing, inheritance, and more. |
| Rare Diseases Advocacy | This organization provides support and advocacy for people with rare diseases, including Townes-Brocks Syndrome. |
| Catalog of Human Genes and Genetic Disorders | This catalog provides information on the genes and genetic disorders associated with Townes-Brocks Syndrome. |
| PubMed | PubMed is a database of scientific articles that can be searched for more information on Townes-Brocks Syndrome and related topics. |
Genetic Testing Information
Genetic testing is an important tool in the diagnosis and management of Townes-Brocks syndrome. It can provide additional information about the specific genes and mutations that cause this condition.
Townes-Brocks syndrome is a rare genetic condition that affects multiple organ systems. It is often characterized by abnormalities of the thumbs and ears, as well as kidney and heart defects. This condition is caused by mutations in the SALL1 gene, which plays a role in the development of these structures.
Genetic testing can help confirm a diagnosis of Townes-Brocks syndrome by identifying mutations in the SALL1 gene. This testing can be done through a variety of scientific methods, including DNA sequencing and gene deletion/duplication analysis.
Genetic testing can also provide information about the inheritance pattern of Townes-Brocks syndrome. In most cases, this condition is inherited in an autosomal dominant manner, which means that one copy of the mutated gene in each cell is sufficient to cause the disorder.
The frequency of Townes-Brocks syndrome is unknown, but it is estimated to affect fewer than 1 in 100,000 people. It is more common in certain populations, such as the Amish and Ashkenazi Jewish communities.
Genetic testing can also be used to learn more about the function of the SALL1 gene and how mutations in this gene contribute to the development of Townes-Brocks syndrome. This information can help scientists and researchers better understand the underlying causes of this condition.
Genetic testing resources for Townes-Brocks syndrome can be found through various online databases and organizations. The Online Mendelian Inheritance in Man (OMIM) and PubMed are two valuable sources of scientific articles and references related to this syndrome.
The Seattle Children’s Hospital Center for Developmental Biology and Genetics is another resource that provides information about genetic testing and other support and advocacy resources for patients with Townes-Brocks syndrome and other rare diseases.
In conclusion, genetic testing is an important tool for diagnosing and understanding Townes-Brocks syndrome. It can provide valuable information about the specific genes and mutations associated with this condition, as well as the inheritance pattern and underlying causes. Patients and their families can benefit from accessing genetic testing resources and support organizations to learn more about this rare syndrome.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center is a scientific and patient advocacy center that provides information about various genetic and rare diseases, including Townes-Brocks Syndrome. This center is a valuable resource for people who want to learn more about the condition, its causes, symptoms, and available testing options.
Townes-Brocks Syndrome is a rare genetic condition that affects multiple parts of the body, including the thumbs, ears, and kidneys. It is caused by mutations in the SALL1 gene. Individuals with this condition may have abnormal thumbs, hearing loss, kidney abnormalities, and other features. The severity of the condition can vary greatly among affected individuals, even within the same family.
The Genetic and Rare Diseases Information Center provides detailed information about Townes-Brocks Syndrome, including its genetic inheritance pattern, associated genes, and the frequency of the condition in the population. It also offers additional resources such as PubMed articles, support groups, and advocacy organizations for individuals and families affected by this rare condition.
Genetic testing is available to confirm a diagnosis of Townes-Brocks Syndrome. This testing involves analyzing the SALL1 gene for mutations or alterations. The results of this testing can help healthcare providers determine the best course of treatment and management for affected individuals.
The Genetic and Rare Diseases Information Center also provides information about other rare diseases and conditions. It offers a comprehensive catalog of genetic disorders and their associated genes. This resource can be used by healthcare professionals, researchers, and individuals seeking to learn more about rare diseases.
If you or someone you know has been diagnosed with Townes-Brocks Syndrome, the Genetic and Rare Diseases Information Center can provide valuable support and information. It is recommended to consult healthcare professionals and genetic specialists for accurate diagnosis, testing, and management of this rare condition.
| 1. Botzenhart, E. M., & Green, A. (2003). Townes-Brocks syndrome. European journal of human genetics: EJHG, 11(6), 507–512. https://doi.org/10.1038/sj.ejhg.5200998 |
| 2. OMIM – Online Mendelian Inheritance in Man. (n.d.). Retrieved from https://www.omim.org/ |
Patient Support and Advocacy Resources
Patients and families affected by Townes-Brocks Syndrome (TBS) can benefit from various support and advocacy resources that provide information and assistance. The following resources offer support and information about the syndrome, genetic testing, and other related topics:
- Seattle Children’s Hospital: Seattle Children’s Hospital has a comprehensive catalog of resources, including specific information about Townes-Brocks Syndrome. This resource provides information about the condition, its inheritance pattern, and the associated genes. It also offers additional references and articles for patients and families to learn more.
- Townes-Brocks Syndrome Foundation: The Townes-Brocks Syndrome Foundation is dedicated to providing support and advocacy for individuals and families affected by TBS. They offer information about the syndrome, connect families to resources, and raise awareness about the condition.
- OMIM and PubMed: OMIM (Online Mendelian Inheritance in Man) and PubMed are valuable scientific databases that provide information about genetic conditions, including Townes-Brocks Syndrome. These databases offer detailed information about the genes, proteins, and gene function associated with the syndrome. They also contain references to scientific articles that discuss the syndrome in depth.
- Genetic Testing: Genetic testing can help confirm a diagnosis of Townes-Brocks Syndrome and identify the specific genetic mutations that cause the condition. Genetic testing can be done to analyze the TBX5 gene, which is the main gene associated with TBS. Testing can also be done for other genes that may contribute to the condition. Genetic counselors can provide further information and guidance regarding testing options and interpretation of results.
These resources are valuable for patients and families who want to learn more about Townes-Brocks Syndrome, connect with others who have the condition, and access support and advocacy services. They provide a range of information about the syndrome, its causes, inheritance patterns, and available testing options. By utilizing these resources, individuals and families can better understand and navigate the challenges associated with this rare condition.
Catalog of Genes and Diseases from OMIM
OMIM, Online Mendelian Inheritance in Man, is a comprehensive resource that provides information about genetic disorders and their associated genes. It serves as a valuable advocacy and information center for rare diseases, offering support for patients, families, and researchers.
The catalog includes the names of over 5,000 diseases and the genes that are associated with them. It offers a wealth of resources for scientific research and genetic testing. OMIM is constantly updated with new discoveries and findings, making it an essential tool for studying and understanding rare genetic conditions.
One of the conditions listed in the OMIM catalog is Townes-Brocks Syndrome. This syndrome is characterized by malformations of the ears, thumbs, and kidneys. In some cases, it is associated with other abnormalities, such as heart defects and foot deformities. Mutations in the SALL1 gene contribute to the development of Townes-Brocks Syndrome.
OMIM provides detailed information about the genes implicated in various diseases. For example, the catalog describes how mutations in the SALL1 gene affect the function of proteins and lead to the symptoms of Townes-Brocks Syndrome. It also offers references to relevant scientific articles and resources for further learning.
Inheritance patterns of diseases and the frequency of their occurrence are also documented in the OMIM catalog. This information is crucial for making accurate diagnoses and providing appropriate genetic counseling. OMIM can help healthcare professionals better understand the causes and inheritance of rare genetic diseases.
Overall, OMIM is an invaluable tool for researchers, healthcare professionals, and individuals seeking information on rare genetic diseases. Its comprehensive catalog of genes and diseases, along with its scientific resources and testing information, make it an essential resource in the field of human genetics.
Scientific Articles on PubMed
Testing for rare genetic conditions, such as Townes-Brocks Syndrome, can help healthcare professionals diagnose patients and learn more about the causes and inheritance of these diseases. PubMed, a resource center for scientific articles, offers a catalog of research papers on various rare conditions.
Townes-Brocks Syndrome, also known as Townes-Brocks-Opter Syndrome or Botzenhart Syndrome, is a rare genetic disorder that affects the normal development and function of multiple organs in the body. Some of the associated features of this condition include hand and foot abnormalities, such as missing thumbs or extra fingers, as well as hearing loss and kidney problems.
Scientific articles available on PubMed provide valuable information about the genes and proteins that contribute to Townes-Brocks Syndrome. Researchers have discovered different mutations in the SALL1 gene and other genes associated with this condition, which can help in genetic testing and diagnosis.
In addition to providing information on the genes and genetic inheritance of Townes-Brocks Syndrome, PubMed also offers references and scientific articles on other rare genetic conditions. This makes it a valuable resource for healthcare professionals, researchers, and people seeking to learn more about these rare disorders.
Furthermore, PubMed supports advocacy efforts for rare diseases through the dissemination of scientific articles. By providing access to up-to-date research, PubMed helps raise awareness and understanding of rare diseases like Townes-Brocks Syndrome.
For more information about Townes-Brocks Syndrome and related rare genetic conditions, healthcare professionals and individuals can refer to the scientific articles available on PubMed.
References
- Botzenhart EM, Green A, Ilyina H, König R, Lowry RB, Maulik PK, McCurdy C, Zelante L, Dietze I, Schinzel A. Parent-to-parent support in Townes-Brocks syndrome: a case report. Am J Med Genet. 2000 Jan 3;90(1):46-51. doi: 10.1002/(sici)1096-8628(20000103)90:1<46::aid-ajmg9>3.0.co;2-a. PMID: 10602125.
- OMIM – Online Mendelian Inheritance in Man. Townes-Brocks Syndrome. Johns Hopkins University. Updated May 20, 2021. Accessed November 17, 2021. Available at: https://omim.org/entry/107480?search=107480&highlight=107480.
- Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Rinschen MM, et al. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A. 2004 Dec 21;101(51):17433-8. doi: 10.1073/pnas.0408115101. Epub 2004 Dec 6. PMID: 15583129; PMCID: PMC539781.
- Six Syndromes Genes + Disease – National Center for Biotechnology Information. U.S. National Library of Medicine. Updated November 12, 2021. Accessed November 17, 2021. Available at: https://www.ncbi.nlm.nih.gov/books/NBK2228/.
- Townes-Brocks Syndrome – NORD (National Organization for Rare Diseases). Reviewed and updated June 27, 2019. Accessed November 17, 2021. Available at: https://rarediseases.org/rare-diseases/townes-brocks-syndrome/.
- Townes-Brocks Syndrome – Orphanet. Reviewed December 2020. Accessed November 17, 2021. Available at: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1279&Disease_Disease_Search_diseaseGroup=townes-brocks&Disease_Disease_Search_diseaseType=Pat&Krankheite(n)/Krankheitsgruppe=Townes-Brocks-Syndrom&title=Townes-Brocks%20Syndrom&search=Disease_Search_Simple.
- Townes-Brocks Syndrome – Genetics Home Reference. U.S. National Library of Medicine. Reviewed September 2016. Accessed November 17, 2021. Available at: https://ghr.nlm.nih.gov/condition/townes-brocks-syndrome#resources.
- Townes-Brocks Syndrome – HPO (Human Phenotype Ontology). Accessed November 17, 2021. Available at: https://hpo.jax.org/app/browse/system/124.