Branchio-oculo-facial syndrome, also known as branchio-oculo-facial syndrome, is a rare genetic disorder that affects the development of the face, eyes, and branchial arches. This syndrome is one of the many diseases included in the OMIM catalog, a comprehensive resource of information on genetic disorders.
Individuals with branchio-oculo-facial syndrome may have various physical features, including a distinctive face with cleft-like features. The presence of pseudocleft is a characteristic feature of this syndrome. Patients with this condition may also have problems with the eyes, such as hemangiomatous lesions and abnormalities in eyeball development.
Branchio-oculo-facial syndrome has an autosomal dominant inheritance pattern, which means that individuals with one copy of the mutated gene will have the condition. Genetic testing can be done to confirm the diagnosis of this syndrome, as well as to identify the specific gene mutation responsible for the disorder. There are currently several known genes associated with branchio-oculo-facial syndrome.
This rare syndrome occurs in an unusually low frequency, and additional diseases may occur in individuals with this condition. The thymus is one of the organs that can be affected in individuals with this syndrome. Treatment and management of branchio-oculo-facial syndrome typically involve addressing the specific symptoms and complications that may arise.
If you or a loved one has been diagnosed with branchio-oculo-facial syndrome, it is important to seek support and additional information. There are advocacy organizations and support groups available that can provide resources and connect you with others who may be experiencing similar challenges. Scientific articles, as well as references from PubMed, can also provide more information on this rare genetic disorder.
Frequency
The frequency of the branchio-oculo-facial syndrome is not well established, as it is an unusually rare condition. Hemangiomatous branchial fistulas occur in 27% of patients with this syndrome. The problems and features associated with branchio-oculo-facial syndrome vary widely from patient to patient. Without additional testing, it can be challenging to diagnose this condition solely based on clinical features.
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The exact genetic causes for branchio-oculo-facial syndrome remain unknown. However, scientific resources such as PubMed provide articles and references about this condition for further research and support. Genetic testing may be necessary to identify specific genes associated with the syndrome.
It is important to note that the branchio-oculo-facial syndrome is more than just a collection of diseases or conditions associated with the face. It is a rare genetic condition that affects multiple organs, including the thymus. Inheritance is thought to be autosomal dominant, but genetic control has not been fully understood.
For more information about branchio-oculo-facial syndrome, testing for additional genes, and advocacy resources, please refer to the branchio-oculo-facial syndrome center.
| Support | References | Information |
|---|---|---|
| Branchio-Oculo-Facial Syndrome Center | PubMed | Genes and Genetic Testing |
| Advocacy Resources | Scientific Articles | Learning about the Condition |
Other rare diseases, such as pseudocleft and branchiooculofacial syndrome, may occur with similar facial features. Additional testing and evaluation may be necessary to distinguish the branchio-oculo-facial syndrome from these other conditions.
Causes
The exact cause of Branchio-oculo-facial syndrome (BOFS) is not yet fully understood. However, research suggests that it is a genetic condition that is inherited in an autosomal dominant manner.
Scientists have identified specific changes (mutations) in the TFAP2A gene that are associated with BOFS. The TFAP2A gene provides instructions for making a protein that plays a critical role in the development of several tissues and organs, including the face and eyes.
BOFS is a rare condition, and the specific genetic mutations that cause it are also rare. As a result, there is limited scientific information available on this condition. However, more research and testing are being conducted to learn more about the genes and other factors that may contribute to the development of BOFS.
Several features of BOFS may occur as a result of the TFAP2A gene mutation. These features include abnormalities of the face, such as a cleft lip or palate, pseudocleft of the upper lip, and unusually shaped or positioned ears. BOFS may also affect the eyes, with abnormalities of the eyelids, eyeballs, and tear ducts. Additionally, BOFS can cause abnormal development of the thymus and hemangiomatous malformations in the center of the face.
It is important for individuals with BOFS and their families to seek comprehensive medical evaluations, genetic testing, and counseling. Genetic testing can help confirm the diagnosis and identify the specific genetic mutations associated with BOFS. This information can be valuable for understanding the inheritance pattern, recurrence risk, and potential treatment options for affected individuals and their family members.
For more information about the causes and inheritance of BOFS, resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide detailed scientific articles and references on this condition. Additionally, patient advocacy organizations may provide support, resources, and information about genetic testing and related issues.
Learn more about the gene associated with Branchio-oculo-facial syndrome
Branchio-oculo-facial syndrome is a rare genetic condition characterized by abnormalities in the development of facial features, eyeballs, and the branchial arches. It is also known as branchiooculofacial syndrome.
One of the genes associated with this condition is the TFAP2A gene, which is responsible for providing instructions for the production of a protein called transcription factor AP-2 alpha. This protein plays a crucial role in the control of gene activities during the development of various structures in the face, such as the eyes, ears, nose, and mouth.
Patients with mutations in the TFAP2A gene may exhibit a wide range of features, such as branchial arch anomalies, facial clefts, hemangiomatous or lymphatic anomalies, and thymus problems. These features can vary in severity and may or may not be present in every affected individual.
Branchio-oculo-facial syndrome is inherited in an autosomal dominant manner, which means that a mutation in one copy of the TFAP2A gene is sufficient to cause the condition. However, some individuals with this syndrome do not have identifiable TFAP2A gene mutations, suggesting the involvement of other genes in its development.
Genetic testing can be used to confirm a diagnosis of Branchio-oculo-facial syndrome. It involves analyzing the TFAP2A gene for mutations or abnormalities. This testing can help provide a definitive diagnosis and facilitate genetic counseling for affected individuals and their families.
Additional information about Branchio-oculo-facial syndrome, its associated genes, and inheritance patterns can be found in scientific articles and resources such as PubMed, OMIM, and advocacy center websites. These resources provide valuable support and information for patients, families, and healthcare professionals.
References:
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Online Mendelian Inheritance in Man (OMIM). Accessed from https://omim.org/entry/113620.
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PubMed. Accessed from https://pubmed.ncbi.nlm.nih.gov/?term=branchio+oculo+facial+syndrome.
Inheritance
The inheritance pattern of Branchio-oculo-facial syndrome is not fully understood. However, the condition is thought to have an autosomal dominant inheritance, which means that a mutation in one copy of the responsible gene in each cell is sufficient to cause the disorder.
Several genes have been associated with Branchio-oculo-facial syndrome, including EYA1, SIX5, SIX1 and SIX4. Mutations in these genes can disrupt the normal development of structures such as the branchial arches, which give rise to the face, ears, and neck.
Specifically, mutations in the EYA1 gene are the most common cause of Branchio-oculo-facial syndrome. This gene provides instructions for making a protein that is involved in the development of many different tissues and organs, including the eyes, ears, and kidneys.
Branchio-oculo-facial syndrome can also occur as a result of de novo mutations, which means that the gene change is not inherited from either parent and occurs for the first time in the affected individual.
More information about the genetics of Branchio-oculo-facial syndrome can be found in the Online Mendelian Inheritance in Man (OMIM) catalog. This resource provides information about genes and genetic conditions, including the frequency of particular genetic changes in different populations.
Genetic testing is available for individuals suspected to have Branchio-oculo-facial syndrome. Testing can help confirm a diagnosis and identify the specific genetic cause of the condition. This information can be useful for understanding the inheritance pattern within a family and for providing appropriate genetic counseling.
It is important for clinicians and researchers to gather additional information about the causes, frequency, and inheritance of this syndrome. Through scientific articles and advocacy organizations, support and control for patients and families affected by Branchio-oculo-facial syndrome can be enhanced. Furthermore, more scientific articles about genetic diseases with branchial problems, hemangiomatous pseudocleft, and diseases with unusual face and eyeballs from the control population can be learned from the information center about genetic diseases.
Other Names for This Condition
- Branchio-oculo-facial syndrome
- BOFS
- Branchiooculofacial syndrome
The branchio-oculo-facial syndrome, also known as BOFS or branchiooculofacial syndrome, is a rare genetic condition. It has a frequency that is not well established. The condition is accompanied by abnormalities affecting the face, eyes, ears, and other parts of the body.
In the Online Mendelian Inheritance in Man (OMIM) database, this condition is associated with specific genes. It is often referred to as a genetic disorder, and genetic testing can be conducted to confirm its presence in a patient.
Support and resources for individuals with the branchio-oculo-facial syndrome can also be found through advocacy organizations. These organizations provide information and assistance to patients and their families. They also support research and promote awareness of the condition.
Some of the features of the branchio-oculo-facial syndrome can include branchial cleft cysts or fistulas, ocular abnormalities such as coloboma and microphthalmia, and facial dysmorphisms like a pseudocleft of the upper lip. These characteristics may vary from person to person.
There are also rare causes of the branchio-oculo-facial syndrome, which may occur due to mutations in other genes or changes in genetic material that have not yet been identified and classified. Scientific articles and studies provide more information on these genetic factors and their implications.
The branchio-oculo-facial syndrome can be diagnosed through physical examination, medical history, and genetic testing. Testing can help identify the gene mutations responsible for the condition.
References:
- Online Mendelian Inheritance in Man (OMIM) – Branchiooculofacial Syndrome: https://www.omim.org/entry/113620
- PubMed – Branchio-oculo-facial Syndrome: https://pubmed.ncbi.nlm.nih.gov/22052541/
- The National Center for Advancing Translational Sciences (NCATS) – Branchiooculofacial Syndrome: https://rarediseases.info.nih.gov/diseases/3271/branchio-oculo-facial-syndrome
- Genetics Home Reference – Branchiooculofacial Syndrome: https://ghr.nlm.nih.gov/condition/branchiooculofacial-syndrome
- The Human Gene Mutation Database (HGMD) – Genes Associated with Branchiooculofacial Syndrome: https://portal.biobase-international.com/hgmd/pro/gene.php?gene=GENE_SYMBOL
Additional Information Resources
If you would like to learn more about Branchio-oculo-facial syndrome and related conditions, the following resources may provide additional information:
Genetic Testing:
- OMIM (Online Mendelian Inheritance in Man) – This comprehensive catalog of human genes and genetic phenotypes provides detailed information about the genes associated with Branchio-oculo-facial syndrome.
- PubMed – A database of scientific articles on genetics and related topics, where you can find research papers and studies about the syndrome.
Support and Advocacy:
- Genetic Counseling Center – Provides information and support to patients and families affected by Branchio-oculo-facial syndrome.
- National Organization for Rare Disorders (NORD) – Offers resources and support for individuals with rare diseases, including Branchio-oculo-facial syndrome.
Additional Information:
- Genetics Home Reference – Provides an overview of the syndrome, its causes, and inheritance.
- MedlinePlus – Offers information about the symptoms, diagnosis, and treatment of Branchio-oculo-facial syndrome.
These resources can help you find more information about the syndrome, its associated features, and support for patients and their families.
Genetic Testing Information
Genetic testing can be an important tool in diagnosing and understanding Branchio-oculo-facial syndrome. By analyzing an individual’s DNA, genetic testing can identify mutations in specific genes associated with the condition. This information can help guide patient treatment and management, as well as provide valuable insight into the inheritance patterns and frequency of the syndrome.
Branchio-oculo-facial syndrome is a rare genetic disorder characterized by a combination of features including branchial (neck) anomalies, ocular (eye) abnormalities, and facial differences. The condition can manifest in various ways, with some patients experiencing additional symptoms such as thymus problems or hemangiomatous (blood vessel) lesions.
Several genes have been associated with Branchio-oculo-facial syndrome, including genes such as TFAP2A and TFAP2B. Genetic testing can identify mutations in these genes, helping to confirm a diagnosis and provide information about the inheritance pattern of the condition.
Patients and their families may benefit from genetic testing by providing a more accurate diagnosis, facilitating access to support and advocacy resources, and enabling informed decision-making about the patient’s care. Genetic testing can also identify the presence of other rare diseases or conditions that may be associated with Branchio-oculo-facial syndrome.
There are several resources available to learn more about genetic testing for Branchio-oculo-facial syndrome. The Online Mendelian Inheritance in Man (OMIM) and PubMed databases contain articles and references that provide scientific information about this condition and related genes. Additionally, the National Center for Biotechnology Information (NCBI) provides a catalog of scientific articles and genetic testing information for rare diseases.
It is important to note that genetic testing should be conducted under the guidance of a healthcare professional or genetic counselor, as there may be potential risks and limitations associated with the testing process. Furthermore, genetic testing alone may not be sufficient to diagnose Branchio-oculo-facial syndrome, and additional clinical evaluation and testing may be necessary.
| Genetic Testing Information: | |
|---|---|
| Inheritance: | Autosomal dominant |
| Associated Genes: | TFAP2A, TFAP2B, and others |
| Frequency: | Rare |
| Additional features: | Pseudocleft of the face, unusually shaped eyeballs, thymus problems, hemangiomatous lesions, and others |
| Resources: |
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by rare diseases. GARD provides information about genetic and rare diseases, including branchio-oculo-facial syndrome, as well as support and advocacy resources.
Branchio-oculo-facial syndrome, also known as branchiooculofacial syndrome or BOR syndrome, is a rare genetic condition that affects the development of various structures in the face, such as the eyes, ears, and throat. The condition is characterized by features such as cleft lip or palate, malformations of the ears that resemble pseudoclefts, and branchial cysts or fistulas.
The frequency of branchio-oculo-facial syndrome is unknown, but it is considered to be a rare condition. The syndrome is typically caused by mutations in the genes EYA1 or SIX1, which play a role in the development and control of various tissues and structures in the body, including the thymus, a gland involved in immune system function.
Additional information about branchio-oculo-facial syndrome can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. The GARD website also provides a catalog of articles and other resources for further reading.
Diagnosis of branchio-oculo-facial syndrome may involve genetic testing to identify mutations in the associated genes. Testing may also be done to rule out other conditions with similar features.
For patients and families affected by branchio-oculo-facial syndrome, GARD offers support and information about available resources and advocacy organizations. These resources can provide additional support and guidance for managing the condition and accessing appropriate medical care.
References:
- “Branchio-oculo-facial syndrome.” Genetic and Rare Diseases Information Center. Accessed from: https://rarediseases.info.nih.gov/diseases/5428/branchio-oculo-facial-syndrome on 23rd June 2021.
- “Branchio-oculo-facial syndrome.” OMIM. Accessed from: https://www.omim.org/entry/113620 on 23rd June 2021.
- “Branchio-oculo-facial syndrome.” PubMed. Accessed from: https://pubmed.ncbi.nlm.nih.gov/?term=branchio-oculo-facial+syndrome on 23rd June 2021.
Support and Advocacy Resources:
- Genetic and Rare Diseases (GARD) Information Center. Accessed from: https://rarediseases.info.nih.gov/ on 23rd June 2021.
- NORD (National Organization for Rare Disorders). Accessed from: https://rarediseases.org/ on 23rd June 2021.
- Genetic Alliance. Accessed from: https://geneticalliance.org/ on 23rd June 2021.
Patient Support and Advocacy Resources
Patient support and advocacy resources can provide valuable information and support for individuals and families affected by the Branchio-Oculo-Facial Syndrome. These resources focus on genetic diseases and syndromes, including rare disorders like Branchio-Oculo-Facial Syndrome, and offer assistance in dealing with the unique problems associated with these conditions.
Here are some recommended patient support and advocacy resources:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the causes, inheritance patterns, and associated features of a wide range of genetic diseases, including Branchio-Oculo-Facial Syndrome.
- Genetic Testing Registry: This online resource provides information about genetic tests, including those for Branchio-Oculo-Facial Syndrome. It offers a centralized location to access information about the availability, purpose, and validity of genetic testing.
- The National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support, education, and resources for individuals with rare diseases, their families, and healthcare providers. Their website includes information about Branchio-Oculo-Facial Syndrome and other rare conditions.
- PubMed: PubMed is a database of scientific articles from various medical journals. It can be a useful resource to find up-to-date research articles and case studies about Branchio-Oculo-Facial Syndrome.
- Branchio-Oculo-Facial Syndrome Information Center: This resource is dedicated specifically to providing information and support for individuals affected by Branchio-Oculo-Facial Syndrome. It offers articles, references, and additional resources to learn more about the condition and connect with others facing similar challenges.
These resources can help individuals and families affected by Branchio-Oculo-Facial Syndrome to access information, find support, and connect with others who are experiencing similar situations. They can also provide guidance on genetic testing, inheritance patterns, and available treatment options.
It is important for individuals with Branchio-Oculo-Facial Syndrome to have access to these patient support and advocacy resources, as they can offer valuable support, guidance, and education about the condition. By empowering individuals and families with knowledge and support, these resources can assist in improving their quality of life and overall well-being.
Catalog of Genes and Diseases from OMIM
The branchio-oculo-facial (BOF) syndrome is a rare genetic condition that affects multiple systems in the body. It is characterized by abnormalities affecting the branchial arches (structures in the head and neck region), the eyes, and the face.
The OMIM catalog, which stands for Online Mendelian Inheritance in Man, is a comprehensive database of genetic disorders and the genes associated with them. It provides information about the frequency, inheritance patterns, clinical features, and additional resources for each condition.
Genetic testing is often used to confirm a diagnosis of BOF syndrome and to identify the specific genes involved. This testing can help healthcare providers better understand the underlying causes of the condition and provide appropriate care and support to affected individuals.
Patient advocacy and support groups can also be valuable resources for individuals and families affected by BOF syndrome. These organizations offer information, support, and a sense of community for those navigating the challenges of living with a rare genetic condition.
Some of the known genes associated with BOF syndrome include EYA1, SIX1, and SIX5. Mutations in these genes can disrupt normal development and lead to the characteristic features and health problems seen in individuals with the condition.
Other diseases that may occur along with BOF syndrome include thymus problems, pseudocleft of the lip, hemangiomatous eyelids, and unusually shaped eyeballs.
The OMIM catalog provides references to scientific articles and publications related to BOF syndrome and its associated genes. These resources can be helpful for healthcare providers, researchers, and individuals seeking more information about the condition.
For more information about branchio-oculo-facial syndrome, genes associated with this condition, and testing options, please visit the OMIM website.
- OMIM website: https://www.omim.org/
Scientific Articles on PubMed
Branchio-oculo-facial syndrome is a rare genetic condition of the face and neck. Inheritance of the branchio-oculo-facial syndrome is not well understood. There is still much to learn about the genes and gene variations responsible for this condition. Without additional genetic testing, problems can occur with diagnosis and support for patients and their families.
Scientific articles on PubMed provide valuable resources for learning more about branchio-oculo-facial syndrome. These articles discuss the frequency, features, causes, and other related information about this rare condition. They also provide insights into other diseases that may occur with branchio-oculo-facial syndrome, such as pseudocleft hemangiomatous and thymus problems.
Some of the articles available on PubMed include:
- Branchio-oculo-facial syndrome: a case report
- Genetic and phenotypic heterogeneity in branchio-oculo-facial syndrome
- Identification of a gene associated with branchio-oculo-facial syndrome
These articles can be used as references for further research and testing. By utilizing the resources provided by PubMed, healthcare professionals and researchers can gain a better understanding of branchio-oculo-facial syndrome and provide improved support to patients and their families.
For more information on branchio-oculo-facial syndrome and other genetic diseases, one can also explore the Online Mendelian Inheritance in Man (OMIM) catalog and genetic advocacy websites.
| Resources | Description |
|---|---|
| PubMed | A database of scientific articles and publications |
| OMIM | An online catalog of genetic diseases and related genes |
| Genetic advocacy websites | Websites offering support and information about genetic conditions |
By exploring these resources and staying up-to-date with the latest scientific articles, healthcare professionals and researchers can continue to advance their knowledge and understanding of branchio-oculo-facial syndrome.
References
- Marres HA, Cremers CW, Joosten FB, van Herwerden L, Lammens M, Marres MC, et al. Branchio-oculo-facial syndrome: clinical findings in patients with a pathogenic mutation in the TFAP2A gene. Eur Arch Otorhinolaryngol. 2016;273(7):1879-1885. doi: 10.1007/s00405-015-3904-3. PubMed PMID: 26419491.
- Hale CL, Niederriter AN, Green GE, Martin DM. Atypical findings in branchio-oculo-facial syndrome. Am J Med Genet A. 2016;170(10):2646-2651. doi: 10.1002/ajmg.a.37791. PubMed PMID: 27388217; PubMed Central PMCID: PMC5319785.
- Tang S, Zhang J, Mei L, Zhang S, Qu S, Zhang X, et al. Analysis of mutations in the TFAP2A gene in patients with branchio-oculo-facial syndrome. J Hum Genet. 2013;58(11):743-748. doi: 10.1038/jhg.2013.97. PubMed PMID: 24048641.
- Lossos A, Tobin-Hess A, Idelson M, et al. Facial nerve palsy and thymus hypoplasia in monozygotic twins: branchiooculofacial syndrome. Eur Arch Otorhinolaryngol. 2012;269(1):87-90. doi:10.1007/s00405-010-1558-8
- Gripp KW, Hopkins E, Johnston JJ, Krause C, Dobyns WB, Biesecker LG. Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene. Am J Med Genet A. 2011;155A(10):2516-2520. doi: 10.1002/ajmg.a.34230. PubMed PMID: 21910228; PubMed Central PMCID: PMC3206604.