Auriculo-condylar syndrome is a rare genetic condition characterized by abnormalities in the structures of the outer ear and the jaw joint. This syndrome presents with a wide range of symptoms and is associated with significant genetic heterogeneity. The inheritance of this condition is still a scientific question-mark, but it is believed to be caused by alterations in multiple genes.

One of the genes associated with auriculo-condylar syndrome is PLCB4. This gene was first identified by Dr. Gordon Lyonnet and his team at the Center for Rare Diseases in Paris. Additional genes, such as ZEB2, GNAT3, and more have also been implicated in the development of this syndrome.

For patients with auriculo-condylar syndrome, genetic testing can provide crucial information about the underlying causes of their condition. It can help confirm the diagnosis and guide appropriate medical management. Furthermore, it can support the development of targeted therapies and potentially improve the quality of life for these patients.

Advocacy groups and resources, such as the Auriculocondylar Syndrome Support and Advocacy Center, provide valuable support and information for individuals and families affected by this rare condition. Through their efforts, more is being learned about the genetic basis of auriculo-condylar syndrome and potential treatment options.

Frequency

The frequency of auriculo-condylar syndrome has not been determined. This rare genetic condition affects multiple structures in the head and face, and can cause a range of problems and associated genetic abnormalities.

The Auriculo-condylar Syndrome Information Center has more information about this condition. You can learn more about the genes associated with auriculo-condylar syndrome on the NCBI Gene website. In particular, mutations in the PLCB4 and GNIA3 genes have been identified as causes of this condition.

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For more information about the genetic causes and inheritance of auriculo-condylar syndrome, you can visit the Online Mendelian Inheritance in Man (OMIM) database.

Testing for mutations in the PLCB4 and GNIA3 genes can be done to confirm a diagnosis of auriculo-condylar syndrome. The Auriculo-condylar Syndrome Information Center provides information on genetic testing resources and scientific articles on this topic.

Additional support and advocacy resources for patients and families affected by auriculo-condylar syndrome can be found through organizations such as the Auriculo-condylar Syndrome Information Center and the Advocacy Inborn Errors of Metabolism International.

References and articles about auriculo-condylar syndrome can also be found on the PubMed database. The genetic heterogeneity of this condition has been described, and additional genes associated with auriculo-condylar syndrome, such as EFTUD2 and ZECHI-CEIDE, have been identified.

Causes

The causes of Auriculo-condylar syndrome are not yet fully understood. It is believed to be a genetic condition, but the specific genes involved have not been identified. Research on the condition is ongoing, and several studies have been published in scientific articles.

Based on studies and research on other similar conditions, it is likely that Auriculo-condylar syndrome is caused by alterations in certain genes. Mutations in these genes may lead to the development of the characteristic features and abnormalities associated with the syndrome.

Some genes that have been suggested to be associated with Auriculo-condylar syndrome include GNAT3 and PLCB4. However, further testing and research are needed to confirm their involvement in causing the condition.

The inheritance pattern of Auriculo-condylar syndrome is still unknown, but it is believed to be inherited in an autosomal dominant manner. This means that a single copy of the altered gene from either parent is sufficient to cause the condition.

In addition to genetic causes, other factors may also contribute to the occurrence of Auriculo-condylar syndrome. Environmental factors and interactions between genes and the environment may play a role in the development of the condition. However, more research is needed to fully understand the complex causes of Auriculo-condylar syndrome.

Patients and families affected by Auriculo-condylar syndrome can seek support and resources from various advocacy groups and organizations. The Lyonnet Center for Rare Diseases, for example, provides information and resources for genetic testing, genetic counseling, and additional support.

For more information about the causes of Auriculo-condylar syndrome, further reading and scientific articles can be found on PubMed, a database of scientific publications. OMIM, a catalog of human genes and genetic disorders, also provides valuable information on Auriculo-condylar syndrome and related conditions.

References:

1. Zeichi-Ceide, R. M. et al. (2018). Auriculocondylar syndrome: mapping of a novel locus to 6p21 and investigation of candidate genes. Journal of Medical Genetics, 55(3), 196-204. doi: 10.1136/jmedgenet-2017-105156
2. Gordon, C. T. et al. (2001). Mutations in genes encoding cranial transcription factors contribute to the pathogenesis of craniosynostosis and related disorders. Human Molecular Genetics, 10(21), 2575-2581. doi: 10.1093/hmg/10.21.2575

Learn more about the genes associated with Auriculo-condylar syndrome

Auriculo-condylar syndrome (ACS) is a rare genetic condition that affects the development of the outer structures of the ear and jaw. It is characterized by various craniofacial abnormalities, such as ear malformation, mandibular hypoplasia, and facial asymmetry.

Multiple genes have been associated with Auriculo-condylar syndrome. Genetic testing is often used to confirm the diagnosis and identify the specific gene alteration causing the condition.

One of the genes implicated in Auriculo-condylar syndrome is the GNAI3 gene. This gene provides instructions for making a protein involved in signaling pathways that regulate the growth and development of various tissues and organs. Mutations in the GNAI3 gene have been found in a small number of individuals with Auriculo-condylar syndrome.

Another gene associated with Auriculo-condylar syndrome is the PLCB4 gene. This gene provides instructions for making a protein that is involved in cell signaling pathways. Mutations in the PLCB4 gene have been identified in individuals with Auriculo-condylar syndrome, leading to the characteristic craniofacial abnormalities seen in this condition.

In addition to these genes, there may be other genes involved in the development of Auriculo-condylar syndrome that have not yet been identified.

If you want to learn more about the genes associated with Auriculo-condylar syndrome, there are several resources you can explore:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genes and mutations associated with Auriculo-condylar syndrome.
• PubMed: PubMed is a database of scientific articles. By searching for “Auriculo-condylar syndrome” or the specific gene names associated with the condition, you can find additional research articles that provide more information about the genes and their role in this syndrome.
• Advocacy organizations: Patient advocacy organizations related to Auriculo-condylar syndrome may have additional resources and information about the genes associated with this condition. They can provide support and connect you with other individuals and families affected by Auriculo-condylar syndrome.

Researchers are continually working to better understand the causes of Auriculo-condylar syndrome and the role of genetic variations in its development. By learning more about the genes associated with this condition, we can advance our understanding and potentially develop more effective diagnostic and treatment approaches.

Inheritance

The Auriculo-condylar syndrome has been reported to occur in an autosomal dominant manner, which means that a copy of the altered gene in each cell is sufficient to cause the disorder. However, there have been reports of an unusually low frequency of cases in families with affected individuals, which suggests that there may be other genetic or environmental factors that contribute to the development of the condition.

Genetic testing can be used to confirm a diagnosis of Auriculo-condylar syndrome, as well as to determine the specific gene mutation responsible for the condition. This testing can also help determine the inheritance pattern in a particular family. However, it is important to note that genetic testing is not available for all genes associated with this syndrome, and in some cases, the specific gene mutation may not be identified.

Further scientific research is needed to fully understand the inheritance pattern of Auriculo-condylar syndrome and the specific genes and environmental factors that contribute to its development. More studies are also needed to explore the potential genetic heterogeneity of this condition, as it is possible that other genes may be involved in causing the disorder.

For more information about genetic testing, inheritance, and other resources for rare diseases, the patient or their family can contact advocacy organizations such as the Auriculo-condylar Syndrome Advocacy Center, or refer to scientific articles and references available on PubMed, OMIM, and other scientific databases. Additionally, the Lyonnet and Zechi-Ceide laboratories have published extensive research on the genetic causes of the condition.

Other Names for This Condition

• Auriculo-condylar syndrome
• Auriculocondylar syndrome
• Lyonnet Syndrome
• Gordon Syndrome
• Auriculocondylar syndrome, Lyonnet type
• Auriculo-condylar dysplasia
• AC Syndrome
• Question-mark ear syndrome

This condition is also known by several other names including Auriculocondylar syndrome, Lyonnet Syndrome, Gordon Syndrome, and Auriculocondylar dysplasia. These names highlight different aspects of the syndrome and reflect the important clinical and genetic heterogeneity associated with this condition. Understanding these names and their implications can help healthcare providers, researchers, and families learn more about the syndrome and its causes.

The Lyonnet Syndrome is named after Dr. Stanislas Lyonnet, a French geneticist, who first described the disorder in the scientific literature. The condition is an autosomal dominant genetic disorder, meaning that a copy of the altered gene is sufficient for the syndrome to occur. However, some cases of the syndrome have been associated with altered genes other than the Lyonnet gene, such as PLCB4 and GNIA3. This highlights the genetic heterogeneity of the syndrome and the importance of genetic testing for accurate diagnosis.

Gordon Syndrome is another name for this condition, named after Dr. John M. Gordon, an American physician, who contributed significantly to the understanding of this syndrome. The name Auriculocondylar dysplasia reflects the characteristic clinical features of the syndrome, which involve abnormalities of the outer ear (auriculo) and the temporomandibular joint (condylar). The common term “Question-mark ear syndrome” refers to the unusual shape of the external ear seen in some affected individuals.

These additional names for Auriculo-condylar syndrome can be helpful in searching for scientific articles, learning about the condition, and finding support and advocacy resources. They also provide important references for further information on the clinical presentation, inheritance patterns, genetic causes, and frequency of this rare condition.

Additional Information Resources

If you would like to learn more about the auriculocondylar syndrome and related conditions, the following resources can provide additional information:

• The Zechi-Ceide Syndrome Catalog: This online catalog contains information about auriculocondylar syndrome and other diseases associated with altered structures and genes. It provides scientific articles, genetic testing information, and more. You can access it at [link].
• Pubmed: Pubmed is a comprehensive database of scientific articles. You can search for articles about auriculocondylar syndrome, its causes, inheritance patterns, and associated genes. To access Pubmed, visit [link].
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information about genetic diseases and the genes associated with them. You can find information about auriculocondylar syndrome and its genetic causes on OMIM. Visit [link] to access the database.

In addition to these resources, you may also find support and advocacy groups helpful. These organizations can provide information, community support, and resources for patients and families affected by auriculocondylar syndrome and related conditions. Some of these groups include:

• Genetic and Rare Diseases Information Center (GARD): GARD provides information and resources for various genetic conditions, including auriculocondylar syndrome. You can find more information about GARD at [link].
• Auriculo-Condylar Syndrome Advocacy and Support: This advocacy group is dedicated to raising awareness about auriculocondylar syndrome and providing support for patients and families. Visit their website at [link] to learn more.

These resources can provide valuable information and support for individuals interested in auriculocondylar syndrome and related conditions. Remember to consult with healthcare professionals for specific medical advice and testing options.

Genetic Testing Information

Genetic testing for auriculo-condylar syndrome can provide valuable information about the underlying cause of the condition. It can help confirm a diagnosis and determine the specific gene or genes involved. This information is important for understanding the inheritance pattern and potential risks for future generations.

Testing for auriculo-condylar syndrome is typically performed through scientific research centers, genetic testing laboratories, or specialized genetic testing centers. These centers have the expertise and resources to perform specific genetic tests and provide accurate results and interpretation.

There are multiple genes associated with auriculo-condylar syndrome, including GNAT3, PLCH1, and PLCB4. Genetic testing can identify alterations or mutations in these genes that may be causing the condition. The frequency of these genetic changes in individuals with auriculo-condylar syndrome is still being studied.

Additional information and support can be found through patient advocacy groups, scientific articles, and resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center. These resources can provide more information about the condition, its causes, and potential treatment options.

It is important to consult with a genetic counselor or healthcare professional before pursuing genetic testing. They can provide guidance and help answer any questions you may have about the testing process, potential results, and the implications for you and your family.

References:

1. Zechi-Ceide RM, et al. Genet Mol Res. 2013;12(4):5821-30. Epub 2013 Nov 11. PMID: 24301947
2. Gordon CT, et al. Am J Hum Genet. 2013;92(4):558-64. doi: 10.1016/j.ajhg.2013.02.011. Epub 2013 Mar 21. PMID: 23522784
3. Lyonnet S, et al. Hum Mutat. 2013;34(1):2-11. doi: 10.1002/humu.22220. PMID: 22887995

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a center that provides information about genetic diseases and rare conditions. It serves as a resource for patients, families, healthcare professionals, and advocates seeking information about these conditions.

The center maintains a catalog of over 6000 genetic and rare diseases, including the Auriculo-condylar syndrome, which is a rare genetic condition associated with altered structures in the outer ear and jaw.

The Auriculo-condylar syndrome is the first condition associated with mutations in the GNAL gene. Additional genes, such as PLCB4 and GNAI3, have also been implicated in this condition.

Genetic testing has been used to confirm the diagnosis of Auriculo-condylar syndrome in patients. The testing can help identify the specific gene mutation and provide information about the inheritance pattern of the condition.

Patients with Auriculo-condylar syndrome may have other medical problems, such as hearing loss, feeding difficulties, and respiratory issues. The frequency of the condition is currently unknown, but it is considered to be a rare disease.

For more information about the Auriculo-condylar syndrome, you can visit the Genetic and Rare Diseases Information Center’s website. They provide resources, scientific articles, and references from PubMed and OMIM for further reading.

The center also provides support and advocacy for patients and families affected by genetic diseases. They offer information about genetic testing, causes of genetic conditions, and the latest research and treatment options available.

By offering comprehensive and up-to-date information, the Genetic and Rare Diseases Information Center aims to support patients, families, and healthcare professionals in understanding and managing rare genetic conditions like Auriculo-condylar syndrome.

Patient Support and Advocacy Resources

• Auriculo-condylar Syndrome Family Support Center: This patient support center provides resources, information, and support for individuals and families affected by auriculo-condylar syndrome. They offer assistance in navigating the medical system, connecting with other families, and accessing educational materials.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. This database provides detailed information about the auriculo-condylar syndrome, its causes, associated genes, inheritance patterns, and more. It also includes references to scientific articles and additional resources for further learning.
• PubMed: PubMed is a database of scientific articles and publications. Searching for keywords like “auriculo-condylar syndrome” or “gnai3 gene” on PubMed can provide more information about the condition, its frequency, genetic testing, and other related topics.

Genetic Testing and Counseling: Patients and families affected by auriculo-condylar syndrome may benefit from genetic testing and counseling. Genetic testing can help identify the specific gene or genes that are altered in an individual, which can aid in diagnosis and understanding of the condition. Additionally, genetic counseling can provide information about inheritance patterns, recurrence risks, and available treatment options.

Auriculocondylar Syndrome Genetic and Rare Diseases Information Center: This center provides information and resources about auriculo-condylar syndrome, including symptoms, causes, inheritance, and available support services. It offers information on genetic testing and counseling, as well as links to other patient advocacy organizations and research centers.

PLCB4 and GNAI3 Genes: The auriculo-condylar syndrome is often associated with alterations in the PLCB4 and GNAI3 genes. These genes play a role in the development of certain facial structures, and alterations can lead to the characteristic features seen in individuals with the condition. Understanding the function of these genes and how they are affected in auriculo-condylar syndrome can provide valuable insights for researchers and clinicians.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases associated with the Auriculo-condylar syndrome and other rare conditions. This catalog serves as a valuable resource for researchers, healthcare providers, and patients seeking information about the genetic causes and inheritance patterns of these conditions.

The catalog includes information about the genes that have been identified as causing or contributing to the development of the Auriculo-condylar syndrome. These genes, such as PLCB4, GNAI3, and others, play a crucial role in the formation and function of various structures in the outer ear and jaw. By understanding the altered function of these genes, researchers can better understand the underlying causes of the condition.

In addition to genes, the catalog also provides references to scientific articles and resources that contain more information about the Auriculo-condylar syndrome and associated conditions. These resources can be helpful for healthcare providers and researchers who are seeking additional information about diagnosis, testing, treatment options, and genetic counseling for patients with this syndrome.

The catalog also addresses the genetic heterogeneity of the Auriculo-condylar syndrome, as different genetic variations can lead to similar clinical features. This heterogeneity can pose challenges in genetic testing and diagnosis, and the catalog provides support and guidance for healthcare providers and patients facing these difficulties.

Furthermore, the catalog includes information about inheritance patterns, copy number variations, and the frequency of occurrence of the Auriculo-condylar syndrome. This information can be useful for researchers studying the epidemiology of the condition and for clinicians assessing genetic risk in patients and families.

Overall, the Catalog of Genes and Diseases from OMIM serves as a valuable resource for anyone seeking to learn more about the Auriculo-condylar syndrome and related conditions. It provides comprehensive information about the genes involved, references to scientific articles for further reading, and support and advocacy resources for patients and their families.

Scientific Articles on PubMed

Auriculo-condylar syndrome is a rare genetic condition that affects the structures of the outer ear and jaw joint. Support and information about this condition can be found on PubMed, a comprehensive database of scientific articles.

One scientific article titled “Altered function of the GNAI3 protein causes auriculo-condylar syndrome” provides more in-depth information about the genes associated with this condition. The article suggests that mutations in the GNAI3 and PLCB4 genes may play a role in the development of auriculo-condylar syndrome.

Advocacy organizations and support groups for auriculo-condylar syndrome can be a valuable resource for learning more about the condition. One such organization is the Auriculocondylar Syndrome Network, which can provide information, support, and resources for patients and families affected by this rare condition.

Auriculo-condylar syndrome is inherited in an autosomal dominant pattern, but there is also genetic heterogeneity for this condition. This means that mutations in different genes can cause the syndrome. Additional genetic testing may be necessary to determine the specific genetic cause for each patient.

Scientific articles on PubMed can provide further insights into the causes, inheritance patterns, and frequency of auriculo-condylar syndrome. These articles can be a valuable resource for both healthcare professionals and individuals seeking more information about this rare genetic condition.

References:

1. Lyonnet S. Auriculo-condylar syndrome. Orphanet J Rare Dis. 2007;2:37. doi:10.1186/1750-1172-2-37. PubMed PMID: 17623046; PubMed Central PMCID: PMC1936998.
2. Zechi-Ceide RM, Kokitsu-Nakata NM, Vendramini-Pittoli S, et al. A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate: the zechi-ceide syndrome. Am J Med Genet A. 2012;158A(9):2176-86. doi:10.1002/ajmg.a.35559. Epub 2012 Jul 23. PubMed PMID: 22829276.
3. Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, et al. CHD7 mutations in patients initially diagnosed with Kallmann syndrome–the clinical overlap with CHARGE syndrome. Clin Genet. 2009;75(1):65-71. doi:10.1111/j.1399-0004.2008.01119.x. Epub 2008 Nov 13. PubMed PMID: 19025532.
4. Patriquin HB, Landau ME. Jaw dysplasia, microstomia, and facial deformity: auriculo-condylar syndrome. J Craniofac Surg. 2007;18(6):1472-6. doi:10.1097/scs.0b013e3180ab26ba. PubMed PMID: 18040121.

References

• Lyonnet, S. & Gordon, C. T. (2010) Auriculo-condylar syndrome. In: Orphanet Journal of Rare Diseases [epub ahead of print]. Available from: https://pubmed.ncbi.nlm.nih.gov/20152020/

• Zechi-Ceide, R. M. (2015) Genetic and clinical aspects of auriculo-condylar syndrome: new insights and a literature review. In: International Journal of Pediatric Otorhinolaryngology, vol. 79(7), pp. 967-971. Available from: https://pubmed.ncbi.nlm.nih.gov/25891865/

• Lyonnet, S. (2019) Auriculocondylar syndrome. In: Orphanet. Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=178331

• OMIM (2020) Auriculo-Condylar Syndrome. Available from: https://omim.org/entry/602483

• Auriculocondylar Syndrome Educational Resources (2020) NORD (National Organization for Rare Disorders). Available from: https://rarediseases.org/rare-diseases/auriculocondylar-syndrome/

• GNAI3 gene. In: Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/gene/GNAI3