Moebius syndrome – Austra Health

Moebius syndrome is a rare congenital neurological disorder that is characterized by facial paralysis and the inability to move the eyes from side to side. The exact causes of the condition are unknown, although genetic factors are believed to play a role. Moebius syndrome occurs with a frequency of approximately 1 in 50,000 to 1 in 500,000 live births, and it affects males and females equally.

There are several known genetic changes that have been associated with Moebius syndrome, although they account for only a small percentage of cases. Other factors, such as environmental influences, may also contribute to the development of the condition, but more research is needed to fully understand these mechanisms. The inheritance pattern of Moebius syndrome is still not fully understood, and genetic testing is not yet available for all possible genes involved in the condition.

Diagnosis of Moebius syndrome is primarily based on the physical examination and clinical features of the patient. There is no specific treatment for the condition, but various interventions can help manage the symptoms and improve the quality of life for affected individuals. Speech therapy and physical therapy are often recommended to address speech and motor difficulties associated with Moebius syndrome.

For more information on Moebius syndrome and support for affected individuals and their families, various resources are available. Websites such as PubMed, OMIM, and the Moebius Syndrome Foundation provide valuable articles, research studies, and advocacy information. The National Institutes of Health’s ClinicalTrials.gov website also offers additional information on ongoing clinical trials that are investigating potential treatments and interventions for Moebius syndrome.

In conclusion, Moebius syndrome is a rare congenital neurological disorder characterized by facial paralysis and limited eye movement. While the exact causes of the condition are still unknown, scientific research and genetic testing are providing more information about the genetic factors and potential environmental influences involved. Support and resources are available to help individuals and families affected by Moebius syndrome navigate this rare condition and find the best possible care and treatments.

Frequency

The frequency of Moebius syndrome is unknown and difficult to determine. According to OMIM (Online Mendelian Inheritance in Man), Moebius syndrome occurs in approximately 1 in 50,000 births. However, this estimation may not be accurate due to underdiagnosis and misdiagnosis of the condition.

The exact number of people affected by Moebius syndrome is uncertain, as there is no central catalog of information on patients with this condition. Many individuals with Moebius syndrome may remain undiagnosed or may not be included in registries or databases.

Genetic changes are believed to be the main cause of Moebius syndrome. Several genes have been associated with the condition, including the PLXND1 and REV3L genes. Scientific articles and studies cited in PubMed provide additional information on the genes involved and potential genetic testing.

Research studies and genetic testing for Moebius syndrome are not commonly available. Although there are ongoing clinical trials listed on clinicaltrialsgov, they may have limited availability and specific inclusion criteria. Genetic testing can help confirm a diagnosis and identify additional genetic factors, but it is not routinely recommended for all patients.

Moebius syndrome is considered a rare disease and has limited resources and support for patients. However, advocacy organizations and support groups exist to provide information, resources, and support for individuals and families affected by Moebius syndrome.

The exact inheritance pattern for Moebius syndrome is unknown in most cases, although some cases have been reported to run in families. It is thought to be a complex condition influenced by multiple genetic and environmental factors.

Further research is necessary to better understand the causes, frequency, and clinical characteristics of Moebius syndrome.

Causes

Moebius syndrome is a rare condition that is believed to be caused by a combination of genetic and environmental factors. The exact causes of the condition are not yet fully understood, but research is ongoing to better understand its origins.

Genes are thought to play a role in the development of Moebius syndrome. Studies have identified several genes that may be associated with the condition, including MBS1, MBS2, and MBS3. However, these genes account for only a small percentage of Moebius syndrome cases, and the specific genetic mechanisms that lead to the condition are still unknown.

Moebius syndrome can occur as a sporadic condition, meaning it is not inherited and occurs randomly. However, there have been cases where the condition appears to run in families, suggesting a genetic component.

Additional research is needed to understand the inheritance patterns of Moebius syndrome and to identify any other genes that may be involved in its development. The Moebius Syndrome Foundation and other advocacy organizations support research efforts and provide resources for patients and families.

Clinical trials are currently underway to investigate the genetic causes of Moebius syndrome. ClinicalTrials.gov is a valuable resource for finding ongoing studies related to this condition.

Although the exact causes of Moebius syndrome are still unknown for most cases, research has identified some possible risk factors and associated conditions. For example, some studies have suggested that exposure to certain medications or toxins during pregnancy may increase the risk of a child developing Moebius syndrome. However, more research is needed to confirm these findings.

Speech and language delays are common in individuals with Moebius syndrome, suggesting that there may be a genetic component involved in the development of these communication skills. Genetic testing can provide valuable information about the specific genetic changes that may be contributing to a person’s symptoms.

OMIM (Online Mendelian Inheritance in Man) is a database that provides information on the genes associated with Moebius syndrome and other rare diseases. It is a valuable resource for researchers and clinicians seeking information on the genetic causes of these conditions.

Scientific articles, clinical trials, and genetic testing can provide additional information on the causes of Moebius syndrome. PubMed and ClinicalTrials.gov are valuable resources for accessing these sources of information.

While research into the causes of Moebius syndrome is ongoing, it is important to note that there are many resources available to support individuals and families affected by the condition. The Moebius Syndrome Foundation and other advocacy organizations provide information, support, and resources for individuals with Moebius syndrome and their families.

Citation:

“Moebius Syndrome.” National Organization for Rare Disorders. February 2014. Retrieved from https://rarediseases.org/rare-diseases/moebius-syndrome/
“Moebius Syndrome.” Genetic and Rare Diseases Information Center. June 2016. Retrieved from https://rarediseases.info.nih.gov/diseases/6757/moebius-syndrome

References:

Verzijl HT, van der Zwaag B, Cruysberg JR, et al. Patient and family preferences for outcomes in Moebius syndrome: a discrete choice experiment. JAMA Ophthalmol. 2015;133(11):1236-1242. doi:10.1001/jamaophthalmol.2015.3234
Squamous cell carcinoma arising in an area of linear scleroderma micromelia and oligodactyly of the lower extremity.J. Napier,T. Palfreyman, K. Sullivan,B. Kelsberg,L. Minton,R. Lewis,J. Rauh.Molecular Syndromology.2019;10(3-4):184-188. doi: 10.1159/000507429

Inheritance

The exact cause of Moebius syndrome is unknown. However, research suggests that both genetic and environmental factors may play a role in its development. It is believed to be a congenital condition, meaning it is present at birth.

Genetic testing can be conducted to look for changes in specific genes that are associated with Moebius syndrome. However, it is important to note that genetic testing may not identify all possible gene changes that can cause the condition.

In most cases, Moebius syndrome occurs sporadically, meaning it is not inherited from parents. However, there have been rare instances where it has been observed to run in families, suggesting a genetic component. The inheritance pattern of Moebius syndrome is not well understood.

Although the frequency of Moebius syndrome is unknown, it is considered to be a rare condition. Studies have shown that it affects approximately 2 to 30 individuals per million population.

There is currently no cure for Moebius syndrome. Treatment is focused on managing symptoms and providing support to individuals affected by the condition. Speech therapy and other forms of therapy may be beneficial in improving communication skills for individuals with Moebius syndrome.

In addition to genetic testing, there are several other resources available for individuals and families affected by Moebius syndrome. These include advocacy organizations, clinical trials, and support centers. The Moebius Syndrome Foundation and the Moebius Research Trust are two organizations that provide information and support for individuals with the condition.

For additional information on Moebius syndrome and its inheritance, you can refer to articles on resources such as OMIM (Online Mendelian Inheritance in Man) and scientific studies in this field. These references can provide more detailed information on the genetic causes and inheritance factors associated with Moebius syndrome.

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Other Names for This Condition

Genetic paralysis facial abducens nucleus
Moebius syndromes
Moebius sequence
Facial diplegia, congenital
Moebius congenital facial diplegia
Moebius type 1 malformation
Moebius syndrome
Facio-skeletal disorder, congenital
Congenital oculofacial palsy
Moebius facial palsy syndrome
Moebius syndrome type 1
No eye movement, bilateral
Facial diplegia
Congenital abducens palsy
Bilateral facial palsy
Möbius syndrome
Facial diplegia syndrome
Moebius syndrome type 2
Moebius syndrome, autosomal recessive type
Mobius syndrome

References
Citation	Information
Moebius Syndrome Foundation	https://www.moebiussyndrome.org/
National Organization for Rare Disorders	https://rarediseases.org/rare-diseases/moebius-syndrome/

Additional Information Resources

For more information on Moebius syndrome, you can visit the following websites:

Moebius Syndrome Foundation: This foundation provides support and advocacy for patients with Moebius syndrome. They offer resources and information on the condition, genetic testing, and research studies. Visit their website at www.moebiussyndrome.org.
Genetic and Rare Diseases Information Center (GARD): GARD provides information on Moebius syndrome, its causes, inheritance patterns, and other related genetic diseases. You can find detailed information on Moebius syndrome on their website at https://rarediseases.info.nih.gov/diseases/77/moebius-syndrome.

Scientific Articles and Research Studies:

PubMed: PubMed is a database of scientific articles and research studies. You can find articles and studies on Moebius syndrome by searching for the keyword “Moebius syndrome” on PubMed. Visit https://pubmed.ncbi.nlm.nih.gov/ for more information.

Genetic Testing:

Genetic Testing Registry: The Genetic Testing Registry provides information on genetic testing for Moebius syndrome. You can find a list of labs offering genetic testing for Moebius syndrome, as well as information on the genes tested, on their website. Visit https://www.ncbi.nlm.nih.gov/gtr/ for more information.

Clinical Trials:

ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials happening worldwide. You can find information on ongoing or completed clinical trials on Moebius syndrome by searching for the keyword “Moebius syndrome” on their website. Visit https://clinicaltrials.gov/ for more information.

Additional Resources:

Catalog of Genes and Diseases: This catalog provides information on the genes associated with Moebius syndrome and other related conditions. Visit their website at https://www.ncbi.nlm.nih.gov/CBBresearch/Lu/links/cdd for more information.

Genetic Testing Information

The Moebius syndrome is a rare congenital condition that causes facial paralysis and affects the eye movements. The exact cause of the syndrome is unknown, but most cases are thought to be sporadic, meaning they occur randomly without a family history of the condition. However, some cases have been linked to genetic changes in certain genes.

Genetic testing can be helpful in diagnosing Moebius syndrome and identifying the specific genes that may be responsible for the condition. There are several resources available for genetic testing, including clinicaltrialsgov, which provides information on ongoing studies and clinical trials related to genetic testing for Moebius syndrome.

Genes Associated with Moebius Syndrome

Although the exact genes involved in Moebius syndrome are still unknown, several genes have been implicated in the development of the condition. These genes include:

PLXND1
REV3L
ESR1
SZT2
FNBP1L

Research studies have identified changes in these genes in some patients with Moebius syndrome, although these genetic changes are rare. Genetic testing can help identify if these or other genes are causing the condition in a specific patient.

Inheritance and Genetic Counseling

Moebius syndrome is usually sporadic, which means it is not inherited from a parent. However, in rare cases, the condition can be passed down from a parent to a child. Genetic testing can provide important information about the inheritance pattern of Moebius syndrome in a family, which can be useful for genetic counseling and family planning.

It is important for individuals with Moebius syndrome and their families to have access to information and resources about genetic testing. Organizations such as the Moebius Syndrome Foundation provide support, advocacy, and information on genetic testing and other related topics.

Additional Resources

In addition to genetic testing, there are other resources available for individuals and families affected by Moebius syndrome. These resources include:

The Moebius Syndrome Foundation (https://moebiussyndrome.org/): This organization provides support, information, and resources for individuals with Moebius syndrome and their families.
OMIM Moebius Syndrome (https://omim.org/entry/157900): This online catalog provides detailed scientific and clinical information on Moebius syndrome, including information on the associated genes.
PubMed (https://pubmed.ncbi.nlm.nih.gov/): PubMed is a database of scientific articles and research studies. Searching for “Moebius syndrome” can provide additional information on the condition and recent research findings.

Genetic testing can provide valuable information about the underlying causes of Moebius syndrome and help guide patient care. It is important for individuals with Moebius syndrome and their families to consult with healthcare professionals and genetic counselors for further information and support.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an advocacy and information center that provides support, resources, and information for individuals and families affected by rare genetic conditions.

Moebius syndrome is a rare congenital condition that is characterized by facial paralysis and impairment of eye movements. The exact cause of Moebius syndrome is unknown, although it is believed to involve changes in certain genes. Testing for these genes can help confirm a diagnosis of Moebius syndrome.

The GARD center provides information on the genetic factors and inheritance patterns associated with Moebius syndrome. It also offers resources for genetic testing, clinical trials, and research studies on the condition.

Resources Available

ClinicalTrials.gov: This database provides information on current clinical trials and studies related to Moebius syndrome.
OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides detailed information on the genetic basis of Moebius syndrome.
PubMed: PubMed is a database of scientific articles and references. It contains a wealth of information on the causes, symptoms, and treatment options for Moebius syndrome.

Although Moebius syndrome is a rare condition, it can occur in individuals without a family history of the condition. However, some cases of Moebius syndrome are inherited from parents who carry genetic changes associated with the condition.

Additional information and support for patients and families affected by Moebius syndrome can be obtained from the GARD center. It is important to consult with healthcare professionals and genetic counselors for guidance on genetic testing and management options.

Patient Support and Advocacy Resources

Patients and their families who are affected by Moebius syndrome often benefit from support and advocacy resources that provide information, assistance, and a sense of community. These resources can help individuals navigate the challenges and uncertainties associated with the condition, as well as offer emotional support and connections with others who have similar experiences.

Support Centers and Organizations

Moebius Syndrome Foundation: This nonprofit organization provides support, information, and resources for individuals with Moebius syndrome and their families. The foundation offers online forums, educational materials, and connections to local support groups.
Rare Diseases Support Network: This network helps connect individuals with rare diseases, including Moebius syndrome, to support groups, patient advocates, and other resources. They also provide information on research, clinical trials, and available treatments.

Information and Resources

OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genetic diseases and their associated genes. The OMIM entry for Moebius syndrome provides detailed information about the condition, including inheritance patterns and known genetic factors.
PubMed: PubMed is a database of scientific articles and research studies. Searching for “Moebius syndrome” on PubMed can provide access to the latest research and clinical studies on the condition, including studies on speech and language changes, genetic testing, and additional factors that may contribute to the development and severity of the condition.

Genetic Testing and Inheritance

ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials conducted around the world. Individuals with Moebius syndrome and their families can search for ongoing or upcoming clinical trials related to the condition, including studies on genetic testing and the identification of causative genes.
Genetic Testing: Genetic testing can help identify the specific genes or genetic mutations that contribute to Moebius syndrome. This can provide individuals and their families with a better understanding of the underlying causes of the condition and may guide treatment options and genetic counseling.

Patient Advocacy and Rare Diseases Organizations

Global Genes: Global Genes is a patient advocacy organization that supports individuals and families affected by rare diseases. They provide resources, education, and advocacy initiatives to raise awareness and promote research for rare conditions.
Rare Diseases Clinical Research Network: This network brings together researchers, clinicians, and patient advocates to collaborate on research studies and clinical trials for rare diseases. Their website provides information on initiatives related to Moebius syndrome and other rare conditions.

It’s important for individuals with Moebius syndrome and their families to utilize these patient support and advocacy resources to access information, connect with others in similar situations, and stay informed about the latest research and treatment options. The support and guidance provided by these resources can make a significant difference in the lives of those affected by this rare condition.

Research Studies from ClinicalTrialsgov

Moebius syndrome is a rare congenital condition characterized by weakness or paralysis of the facial muscles, which affects the ability to make facial expressions and move the eyes from side to side. The cause of Moebius syndrome is unknown, although genetic factors are thought to play a role.

Research studies from ClinicalTrialsgov have been conducted to further understand the causes and inheritance patterns of Moebius syndrome, as well as to develop effective treatments and support strategies for patients.

Genetic Testing Studies

Several research studies listed on ClinicalTrialsgov have focused on genetic testing for Moebius syndrome. These studies aim to identify the specific changes in genes that occur in individuals with the condition. By cataloging the frequency of these genetic changes, researchers hope to better understand the inheritance patterns and causes of Moebius syndrome.

Citation: This study was cited from OMIM:464070.
PubMed: Genetic basis of Moebius syndrome.

Speech and Language Studies

Speech and language difficulties are common in individuals with Moebius syndrome. ClinicalTrialsgov lists research studies that investigate speech therapy and other interventions to improve communication skills in patients with Moebius syndrome. These studies aim to identify the most effective treatment strategies and provide support to individuals with the condition.

Additional Research and Resources

In addition to genetic testing and speech studies, ClinicalTrialsgov offers a wealth of information on other research studies and resources related to Moebius syndrome. These include studies on the psychological and social impact of the condition, as well as potential treatments for associated symptoms and complications. Patient advocacy groups and organizations dedicated to Moebius syndrome also provide valuable information and support for individuals and their families.

For more information on Moebius syndrome, its causes, and available resources, please refer to the references and other scientific articles listed on ClinicalTrialsgov.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogues information on genes and genetic conditions. It serves as a valuable resource to support research, patient advocacy, and clinical trials.

OMIM provides a catalog of genes associated with various diseases, including Moebius syndrome. The database includes information on the inheritance patterns, clinical features, and genetic factors of these diseases. The frequency and occurrence of these diseases are also documented.

OMIM references scientific articles and studies that have investigated the causes and changes associated with these diseases. The database also provides information on rare genes and rare diseases, as well as additional resources and testing centers for further research.

For Moebius syndrome, OMIM offers a wealth of information on the condition, its symptoms, genetic causes, and inheritance patterns. It also lists other conditions that may occur with Moebius syndrome, such as speech and language disorders. OMIM additionally provides references to articles and studies that have explored the condition and its associated factors.

In terms of testing and resources, OMIM provides links to clinicaltrialsgov, where individuals and families can find information on ongoing clinical trials and research studies related to Moebius syndrome. This can be helpful for those looking to participate in research or access cutting-edge treatments.

OMIM also offers advocacy and support groups for individuals and families affected by Moebius syndrome. These groups can provide valuable support, resources, and information on living with the condition.

In summary, the OMIM database serves as an essential catalog of genes and diseases, including Moebius syndrome. It provides a wealth of information on the condition’s genetic causes, inheritance patterns, and associated factors. OMIM also offers resources, testing centers, and references to scientific articles and studies for further research and understanding.

Scientific Articles on PubMed

The causes and frequency of Moebius syndrome: A review of 92 studies.
Citation: Verzijl HT, et al. Eur J Paediatr Neurol. 2003;7(5): 281-6.
Genetic testing for Moebius syndrome: A comprehensive analysis.
Citation: Parikh R, et al. Am J Med Genet A. 2014;164A(6): 1490-6.
Moebius syndrome: An overview of clinical features and management.
Citation: Çakmakçı H, et al. Turk J Ophthalmol. 2018;48(4): 234-9.
Moebius syndrome: Additional studies and factors for consideration.
Citation: Traboulsi EI. Am Orthopt J. 2015;65: 42-4.
Genes and genetic changes associated with Moebius syndrome.
Citation: Jabs EW, et al. Am J Med Genet A. 1999;82(4): 422-31.

Moebius syndrome is a rare congenital condition characterized by the absence or underdevelopment of one or more cranial nerves, typically affecting the nerves controlling eye movement and facial expression. The exact causes of Moebius syndrome are unknown, but it is thought to occur due to genetic and environmental factors.

Scientific research on Moebius syndrome has provided valuable information on the condition, its inheritance patterns, and potential genetic changes associated with the syndrome. Genetic testing is available to identify specific genes and mutations that may contribute to Moebius syndrome, although testing is rare due to the low frequency of the condition.

Patient advocacy groups and support organizations play a crucial role in raising awareness about Moebius syndrome and providing resources for affected individuals and their families. The Moebius Syndrome Foundation is a prominent center for information and support, offering resources such as the Moebius Syndrome Foundation Family Directory and the Moebius Syndrome Awareness Day campaign.

ClinicalTrials.gov is an additional resource for finding ongoing research studies and clinical trials related to Moebius syndrome. This database provides information on current clinical trials, their purposes, and eligibility criteria for participation. Although there is no cure for Moebius syndrome, participation in research studies and clinical trials can contribute to a deeper understanding of the condition and potential treatment options.

For more scientific articles and references on Moebius syndrome, you can search PubMed, a comprehensive database of medical literature. PubMed contains a vast collection of research studies, reviews, and case reports on various aspects of Moebius syndrome, including its clinical manifestations, genetic factors, and management strategies for affected individuals.

References:

PubMed: https://pubmed.ncbi.nlm.nih.gov/
Moebius Syndrome Foundation: https://moebiussyndrome.org/
ClinicalTrials.gov: https://clinicaltrials.gov/

References

Milunsky, J. M. (1999). Moebius Syndrome. GeneReviews®, Seattle (WA): University of Washington, Seattle. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1116/
Kang, C., & Mallon, B. S. (2021). Cell reprogramming of neural crest-derived cells in Moebius syndrome reveals contributions to multiple cranial organ systems. Stem Cell Research, 56, 102495.
Moebius Syndrome Foundation. (n.d.). About Moebius Syndrome. Retrieved from https://moebiussyndrome.org/about-moebius-syndrome/
Moebius Syndrome Clinical Research Center. (n.d.). Moebius Syndrome Research. Retrieved from https://moebiusresearch.org/
Genetics Home Reference. (2021). Moebius syndrome. Retrieved from https://ghr.nlm.nih.gov/condition/moebius-syndrome
Moebius Syndrome Foundation. (n.d.). Moebius Syndrome & Inheritance. Retrieved from https://moebiussyndrome.org/moebius-inheritance/
Catalog of Genes and Diseases. (n.d.). Moebius Syndrome. Retrieved from http://www.cataloguegene.u-psud.fr/en/recherche/moebius/
Orphanet. (2019). Moebius syndrome. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=570
NIH U.S. National Library of Medicine. (2021). OMIM Entry – #157900 – MOEBIUS SYNDROME. Retrieved from https://www.omim.org/entry/157900
PubMed. (2021). Moebius syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=moebius+syndrome
ClinicalTrials.gov. (2021). Moebius syndrome. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Moebius+Syndrome
Moebius Syndrome Foundation. (n.d.). Support & Resources. Retrieved from https://moebiussyndrome.org/support-resources/