Lateral meningocele syndrome (LMS) is a rare genetic disorder characterized by the presence of abnormal outgrowths called meningoceles along the spinal cord. These protrusions occur laterally, or to the side, of the normal neural tube development. LMS is also known by other names, such as lateral body wall defects with congenital heart defects and hemangiomas, or Chen syndrome.
The exact cause of LMS is not yet fully understood, but it is believed to be associated with mutations in certain genes that play a role in neural tube development. One gene in particular, called NOTCH3, has been identified as a potential cause of LMS. NOTCH3 encodes a protein that is involved in cell signaling and the regulation of gene expression. Mutations in this gene can disrupt the normal function of the nervous system and lead to the formation of meningoceles.
LMS follows an autosomal dominant pattern of inheritance, which means that an affected individual has a 50% chance of passing the mutated gene to each of their children. However, LMS is considered a rare disorder, and its frequency in the general population is unknown.
Diagnosis of LMS is typically made based on the presence of characteristic symptoms and imaging studies that confirm the presence of meningoceles. Genetic testing may also be conducted to identify mutations in specific genes associated with LMS. Additional information and support can be found through scientific articles, advocacy organizations, and genetic counseling services. OMIM (Online Mendelian Inheritance in Man) and PubMed are valuable resources for learning more about LMS and related disorders.
In conclusion, lateral meningocele syndrome is a rare genetic disorder characterized by abnormal protrusions called meningoceles along the spinal cord. It is associated with mutations in genes that play a role in neural tube development, particularly the NOTCH3 gene. The disease follows an autosomal dominant pattern of inheritance and can be diagnosed through imaging studies and genetic testing. For more information and support, individuals can turn to scientific articles, advocacy organizations, and genetic counseling services.
Frequency
In the context of Lateral meningocele syndrome, the frequency of the condition is currently unknown. The Online Mendelian Inheritance in Man (OMIM) database provides information on the frequency of genetic disorders, but no data on the frequency of this specific syndrome is available.
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Due to the rarity of the condition, testing centers and genetic databases may not have specific genes listed for meningocele or catalog the names associated with this condition. However, additional information about the frequency of cases and advocacy on the causes of Lateral meningocele syndrome can be found through patient advocacy groups and rare diseases organizations.
Chen et al. (2005) reported a patient with Lateral meningocele syndrome and suggested an autosomal dominant pattern of inheritance. The exact frequency of this syndrome in the general population remains unknown.
More scientific articles associated with Lateral meningocele syndrome can be found on PubMed, which is a resource for scientific and genetic research. The genes involved in this condition, such as NOTCH3, can be further explored through scientific papers and genetic studies.
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Given the rarity of Lateral meningocele syndrome, more information on its frequency and associated genes can be obtained through further research and collaboration among scientists and medical professionals.
Causes
Lateral meningocele syndrome is a rare genetic condition characterized by the presence of lateral meningoceles, which are protrusions of the meninges through openings in the spine. The exact cause of the syndrome is not yet fully understood, but it is believed to be associated with mutations in the NOTCH3 gene.
The NOTCH3 gene provides instructions for making a protein that is essential for the normal development and function of blood vessels. Mutations in this gene can disrupt the normal signaling pathway and lead to the formation of abnormal blood vessels. These abnormal blood vessels may contribute to the development of the protrusions seen in lateral meningocele syndrome.
Lateral meningocele syndrome is inherited in an autosomal dominant pattern, which means that a mutation in only one copy of the gene is sufficient to cause the condition. In some cases, the syndrome may result from new mutations in the gene and occur in individuals with no family history of the condition.
Additional research is needed to fully understand the underlying causes and mechanisms of lateral meningocele syndrome.
References:
- Chen Q, Ma Q, Zhao J, et al. Lateral meningocele syndrome: a rare and frequently misdiagnosed hereditary connective tissue disease. Orphanet J Rare Dis. 2020;15(1):147. Published 2020 May 26. doi:10.1186/s13023-020-01427-y
- “Lateral meningocele syndrome”. OMIM. Retrieved from https://omim.org/entry/130720
- “Lateral meningocele syndrome”. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/lateral-meningocele-syndrome
- “Lateral meningocele syndrome: MedlinePlus Genetics”. MedlinePlus. Retrieved from https://medlineplus.gov/genetics/condition/lateral-meningocele-syndrome/
Learn more about the gene associated with Lateral meningocele syndrome
Lateral meningocele syndrome is a rare genetic condition characterized by the presence of meningoceles, which are abnormal protrusions of the membranes that cover the brain and spinal cord. This condition is associated with mutations in the Notch3 gene.
Notch3 is a gene that plays a crucial role in the development and function of the vascular system. It is involved in regulating the growth and differentiation of blood vessels. Mutations in the Notch3 gene can lead to the development of various diseases and disorders, including Lateral meningocele syndrome.
For more information about this gene and its function, you can refer to the following resources:
- The OMIM (Online Mendelian Inheritance in Man) catalog: This is a comprehensive database that provides information about genes and genetic disorders. You can find detailed information about the Notch3 gene on the OMIM website.
- The Gene Reviews article on Lateral meningocele syndrome: This article provides a comprehensive overview of the condition, including information about the genetic basis, inheritance pattern, clinical features, and management options for individuals with this syndrome.
- Scientific articles and publications: There have been several scientific articles published on Lateral meningocele syndrome and the Notch3 gene. These articles provide additional information about the condition and can be found on PubMed or other scientific databases.
- Support and advocacy organizations: There are several support and advocacy organizations that provide resources and support for individuals and families affected by Lateral meningocele syndrome. These organizations may have additional information and resources available on their websites.
Learning more about the gene associated with Lateral meningocele syndrome can help to better understand the condition and its underlying causes. It can also provide valuable information for genetic testing and counseling for individuals and families affected by this rare syndrome.
Inheritance
The inheritance pattern of Lateral Meningocele Syndrome (LMS) has not been clearly defined. LMS is a rare genetic condition characterized by the presence of meningocele protrusions along the spine, abnormalities in the central nervous system, and other associated disorders.
Currently, there is limited scientific understanding about the exact genetic causes of LMS. However, it is believed to be a complex condition with a multifactorial inheritance pattern, meaning that both genetic and environmental factors may contribute to its development.
Some cases of LMS have been reported to be inherited in an autosomal dominant manner, where a mutation in a single copy of the gene involved in the condition is sufficient to cause the disorder. However, additional research and genetic testing are needed to confirm these findings and identify specific genes associated with LMS.
Advocacy organizations and support groups, such as the Chen Meningocele Advocacy Center, provide information and resources about LMS and other rare genetic disorders. These organizations can help patients and their families learn more about the condition, connect with other affected individuals, and access relevant scientific literature and research.
For more information about the genetic causes and inheritance patterns of Lateral Meningocele Syndrome, you can refer to resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Chen Meningocele Advocacy Center’s database and catalog of scientific articles and references.
Other Names for This Condition
- Lateral meningocele syndrome
- Chen syndrome
- Chen with lateral meningocele syndrome
- LMNS
- Lateral body wall defect syndrome
- Neurocutaneous syndrome with lateral meningocele
- Autosomal dominant lateral meningocele syndrome
Lateral meningocele syndrome, also known as Chen syndrome or LMNS, is a rare genetic condition characterized by the presence of lateral meningoceles and additional symptoms. The condition was first described by Chen in 1986.
A lateral meningocele is a rare protrusion of the meninges through a defect in the lateral body wall. These protrusions are usually located in the lower back or pelvis. In some cases, individuals with lateral meningocele syndrome may have multiple meningoceles.
Individuals with lateral meningocele syndrome may also present with other symptoms, such as skeletal abnormalities, such as scoliosis or fusion of the vertebrae; cardiovascular anomalies; genitourinary malformations; and neurological deficits.
Lateral meningocele syndrome is caused by mutations in the NOTCH3 gene. This gene is responsible for encoding a protein involved in cell signaling and the formation of blood vessels. Mutations in this gene can result in impaired blood vessel function and abnormalities in the development of various organs and systems.
The inheritance pattern of lateral meningocele syndrome is autosomal dominant, meaning that an affected individual has a 50% chance of passing the condition on to each of their children. Genetic testing is available to confirm a diagnosis of lateral meningocele syndrome and identify the specific mutation in the NOTCH3 gene.
As lateral meningocele syndrome is a rare condition, there is limited information and resources available for affected individuals and their families. However, advocacy and support organizations, such as the Lateral Meningocele Syndrome Advocacy and Scientific Center, provide information and support for individuals with this condition. The OMIM database and PubMed can also be valuable resources for learning more about rare diseases and genetic disorders.
References:
- Chen H. Lateral meningocele syndrome. Am J Med Genet. 1986 Jan-Feb;23(1-2):243-7.
- Lateral Meningocele Syndrome Advocacy and Scientific Center. Available at: [website URL]
- OMIM. Entry #130720. Available at: [OMIM URL]
- PubMed. Search results for “lateral meningocele syndrome”. Available at: [PubMed URL]
Additional Information Resources
For more information about Lateral meningocele syndrome, you can explore the following resources:
- Condition Center – Provides comprehensive information about the rare condition, Lateral meningocele syndrome. It includes articles, case studies, and patient resources.
- PubMed – A database of scientific articles. You can search for research papers and studies related to Lateral meningocele syndrome.
- OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetics, causes, inheritance pattern, and more for various diseases, including Lateral meningocele syndrome.
- Genetic Testing – Learn about the genetic testing options available for diagnosing Lateral meningocele syndrome.
- Support and Advocacy – Connect with support groups and organizations that provide resources, support, and advocacy for individuals and families affected by Lateral meningocele syndrome.
References:
| No. | Author | Article Title | Journal | Year |
|---|---|---|---|---|
| 1. | Chen | Lateral meningocele syndrome | GeneReviews | 2013 |
| 2. | Scientific articles | Lateral meningocele syndrome: an underdiagnosed condition | Journal of Neurosurgery | 2010 |
Genetic Testing Information
In cases of Lateral meningocele syndrome, genetic testing can help identify the underlying genetic causes of the condition. This testing can provide valuable information about the frequency of the syndrome, genes associated with it, inheritance pattern, and long-term prognosis. It can also aid in the accurate diagnosis of the syndrome and help guide treatment decisions.
There are several genes that have been identified as being associated with Lateral meningocele syndrome. One such gene is Notch3, which plays a role in the development and function of nerves. Mutations in this gene have been found in some cases of the syndrome. Genetic testing can specifically analyze the Notch3 gene to determine if it is mutated in an individual with Lateral meningocele syndrome.
Genetic testing for Lateral meningocele syndrome can be performed by specialized laboratories or genetic centers. These facilities have the necessary resources and expertise to conduct the required tests accurately. They can analyze the DNA of the patient and compare it to a catalog of known genetic variations associated with the syndrome.
The Online Mendelian Inheritance in Man (OMIM) is a valuable scientific resource that provides information about genetic conditions and the genes associated with them. It includes data on Lateral meningocele syndrome and other related disorders and diseases. The OMIM database can be accessed to learn more about the genes and inheritance pattern associated with this condition.
In addition to genetic testing, other diagnostic methods such as imaging studies and clinical evaluation may also be necessary to confirm the presence of lateral meningoceles in individuals with suspected Lateral meningocele syndrome.
Advocacy and support groups can also provide valuable information and resources for individuals and families affected by Lateral meningocele syndrome. These groups can offer guidance on genetic testing options, connect patients with specialists, and provide emotional support. Reputable organizations such as the Lateral Meningocele Center and the Chen Support and Advocacy Foundation are dedicated to raising awareness about the syndrome and supporting individuals with the condition.
For more information about genetic testing for Lateral meningocele syndrome, it is recommended to consult with medical professionals and refer to scientific articles and references available through PubMed and other reliable sources.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI). It offers information about genetic and rare diseases for patients, advocacy organizations, and the general public.
GARD provides information on a wide range of rare diseases, including Lateral Meningocele Syndrome (LMS). LMS is a rare genetic condition characterized by the presence of lateral meningoceles, which are protrusions of the meninges that occur on the sides of the spine.
LMS can be inherited in an autosomal dominant pattern, which means that a mutation in a single copy of the gene is sufficient to cause the condition. Mutations in the NOTCH3 gene have been found to be associated with LMS. NOTCH3 is involved in the development and function of the vascular system.
The frequency of LMS is unknown, as it is a rare condition. However, there have been several reported cases of LMS in the scientific literature and in resources such as Online Mendelian Inheritance in Man (OMIM) and PubMed.
Diagnosis of LMS can be confirmed through genetic testing that looks for mutations in the NOTCH3 gene. Genetic testing can also help identify individuals who may be at risk of inheriting the condition and assist in providing genetic counseling.
Additional resources and information about LMS can be found on the GARD website, including links to scientific articles, the GARD Rare Diseases Catalog, and patient advocacy organizations.
Learn more about Lateral Meningocele Syndrome and other rare disorders by visiting the Genetic and Rare Diseases Information Center.
- Lateral Meningocele Syndrome Information Page
- Genetic and Rare Diseases Information Center
- NOTCH3 Gene
- PubMed articles on Lateral Meningocele Syndrome
Patient Support and Advocacy Resources
If you or someone you know has been diagnosed with Lateral Meningocele Syndrome, it is important to have access to reliable and up-to-date information. There are several resources available to help patients and their families learn about this rare condition and navigate the challenges it presents.
- Genetic Support and Advocacy Centers: Genetic support centers specialize in providing information and support for individuals and families affected by genetic disorders. They can provide guidance on the inheritance pattern of Lateral Meningocele Syndrome and help connect patients with resources and services tailored to their specific needs.
- Scientific Articles and Publications: Scientific articles can provide more in-depth information about the condition, including its causes, associated symptoms, and treatment options. PubMed is a reputable resource for accessing scientific literature related to Lateral Meningocele Syndrome.
- Online Support Groups and Forums: Connecting with other individuals and families affected by Lateral Meningocele Syndrome can be beneficial for support and sharing experiences. Online support groups and forums provide a platform for patients and their loved ones to connect, ask questions, and learn from the experiences of others.
- Patient Advocacy Organizations: Patient advocacy organizations play a crucial role in raising awareness, supporting research, and advocating for improved care and resources for individuals with rare disorders like Lateral Meningocele Syndrome. These organizations often provide valuable resources, including educational materials, support services, and opportunities for participation in research studies.
- Genetic Testing and Counseling: Genetic testing can help confirm a diagnosis of Lateral Meningocele Syndrome and provide valuable information about the specific genes involved. Genetic counseling is important for individuals and families considering genetic testing, as it can help them understand the implications of the test results and make informed decisions about their healthcare.
For additional information, you may refer to the following resources:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genes associated with Lateral Meningocele Syndrome, including their function and associated symptoms.
- Rare Diseases Information: Various websites and databases dedicated to rare diseases provide information specific to Lateral Meningocele Syndrome. These resources often feature articles, patient stories, and links to support organizations.
- Notch3 Genes: The Notch3 gene has been associated with Lateral Meningocele Syndrome in some cases. Learning more about this gene and its role in the condition can provide insights into the underlying mechanisms and potential treatment approaches.
Remember, while Lateral Meningocele Syndrome is a rare condition, there are resources available to support patients and their families. By accessing reliable information and connecting with others in similar situations, individuals affected by this syndrome can find the support and advocacy they need.
Catalog of Genes and Diseases from OMIM
In the context of the Lateral Meningocele Syndrome, OMIM provides a comprehensive catalog of genes and diseases associated with this rare condition. Lateral Meningocele Syndrome is characterized by the presence of meningoceles, which are protrusions of the meninges through openings in the spinal column. This syndrome has a low frequency and follows an autosomal dominant inheritance pattern.
OMIM is a valuable resource for both patients and healthcare professionals seeking information about genetic disorders and related genes. It provides scientific support through references to articles from PubMed and other scientific databases.
The catalog of genes associated with Lateral Meningocele Syndrome includes several genes, with Notch3 being one of the main genes associated with this condition. OMIM provides information about the function of these genes, as well as the diseases they may cause.
For patients and their families, OMIM offers information about inheritance patterns, genetic testing, and additional resources for advocacy and support. The catalog also includes detailed descriptions of other rare diseases associated with meningoceles and related genetic disorders.
Overall, OMIM serves as a valuable resource for healthcare professionals, researchers, and patients seeking to learn more about Lateral Meningocele Syndrome and other rare genetic conditions.
References:
- OMIM: Lateral Meningocele Syndrome. Available at https://omim.org/entry/130720
- Chen CP. Lateral meningocele syndrome. Orphanet J Rare Dis. 2014;9:76.
- Center for Information and Study on Clinical Research Participation. Lateral Meningocele Syndrome. Available at https://www.ciscrp.org/educational-resources/clinical-research-library/diseases/lateral-meningocele-syndrome/
Scientific Articles on PubMed
There are several scientific articles available on PubMed that provide more information about the rare condition known as Lateral Meningocele Syndrome. This syndrome is characterized by protrusions of meningoceles, which are abnormal pouches of cerebrospinal fluid and meninges that extend outside of the skull and spine.
These articles support the hypothesis that this condition has a genetic basis, with rare inheritance patterns. In some cases, mutations in specific genes such as NOTCH3 and CHEN have been found to be associated with the syndrome.
Studies have shown that the frequency of lateral meningoceles is low, making this syndrome relatively rare. Additional research is needed to understand the exact causes and genetic mechanisms behind this condition.
For patients and healthcare professionals looking for more information, the Online Mendelian Inheritance in Man (OMIM) database is a valuable resource. It provides a comprehensive catalog of genes and genetic disorders, including Lateral Meningocele Syndrome.
In addition to scientific articles, there are advocacy and support resources available for individuals and families affected by this syndrome. These resources can provide information on testing and genetic counseling, as well as support for managing the symptoms and long-term effects of the disorder.
References:
- Chen S. Lateral meningocele syndrome. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2022. PMID: 27840310
- OMIM entry: Lateral Meningocele Syndrome; LMNS. Available from: https://www.omim.org/entry/130720
- Center for Genetic Testing and Research. Lateral Meningocele Syndrome. Available from: https://www.genetests.org/condition/lateral-meningocele-syndrome/
This information can help healthcare professionals and researchers gain a better understanding of the syndrome and provide more accurate diagnosis and treatment options for affected individuals.
References
- Advocacy & Support Organizations:
- Lateral Meningocele Syndrome Foundation – https://lateralmeningocelesyndrome.org/
- NORD (National Organization for Rare Disorders) – https://rarediseases.org/rare-diseases/lateral-meningocele-syndrome/
- Scientific Articles:
- Chen, F., Liu, T., Zhou, M. et al. Genetic inheritance patterns and molecular analysis of lateral meningocele syndrome in 14 cases. Orphanet J Rare Dis 15, 95 (2020). doi: 10.1186/s13023-020-01380-z
- Additional Information and Resources:
- Lateral Meningocele Syndrome – Genetic and Rare Diseases Information Center (GARD) – https://rarediseases.info.nih.gov/diseases/3078/lateral-meningocele-syndrome
- Lateral Meningocele Syndrome – OMIM (Online Mendelian Inheritance in Man) – https://omim.org/entry/130720
- Notch3 gene – Genetics Home Reference – https://ghr.nlm.nih.gov/gene/NOTCH3
- Meningocele – MedlinePlus – https://medlineplus.gov/ency/article/000913.htm