Larsen syndrome – Austra Health

Larsen Syndrome is a rare genetic condition that affects the development of bones. It is caused by alterations in certain genes and is generally present at birth. The syndrome is typically inherited in an autosomal recessive pattern, but in some cases, it can be caused by spontaneous genetic mutations. Larsen Syndrome can affect various parts of the body, including the airways, joints, and heart.

Patients with Larsen Syndrome may present with a variety of symptoms, including abnormal joint movement, high-frequency hearing loss, and a cleft palate. The severity of the condition can vary widely between affected individuals. Testing for Larsen Syndrome can be performed by analyzing the patient’s DNA for alterations in the genes known to be associated with the condition. This testing helps to confirm the diagnosis and provides information about the inheritance pattern.

Resources and support for individuals affected by Larsen Syndrome can be found through various organizations and advocacy groups. The Larsen Syndrome Support Network, for example, offers a wealth of information and resources to help patients and their families better understand and cope with the condition. The network provides a network for sharing experiences and learning from others who have been affected by Larsen Syndrome.

Additional information about Larsen Syndrome can be found in scientific articles and research papers. The OMIM database and PubMed are excellent resources for finding articles on specific genes and their role in the development of the condition. These resources can also provide information on related conditions and diseases that may be associated with Larsen Syndrome.

Frequency

The frequency of Larsen syndrome is currently unknown, but it is generally considered to be a rare condition. According to the Online Mendelian Inheritance in Man (OMIM) database, Larsen syndrome affects approximately 1 in 100,000 to 1 in 150,000 live births.

The exact frequency may vary in different populations due to underdiagnosis or misdiagnosis of the condition. Additionally, the rarity of Larsen syndrome may also contribute to a lack of awareness and understanding among healthcare professionals and the general public.

It is important to note that the frequency of Larsen syndrome may be altered by genetic factors. Mutations in the FLNB gene have been identified as the primary cause of the condition, but other genetic and environmental factors may also play a role in its development.

Diagnosis of Larsen syndrome can be challenging due to its variable presentation and overlap with other conditions. Advances in genetic testing have improved the ability to identify the specific gene mutations associated with Larsen syndrome, making it easier to confirm a diagnosis.

Learn More:

The OMIM database (omim.org) and PubMed (pubmed.ncbi.nlm.nih.gov) provide valuable resources for further information on Larsen syndrome, its associated gene mutations, and related research articles.
The Genetic and Rare Diseases Information Center (GARD) offers free information on Larsen syndrome and other rare diseases. Their website (rarediseases.info.nih.gov) provides comprehensive information on symptoms, inheritance, testing, resources, and advocacy.

Causes

Larsen syndrome is a rare genetic condition that is typically caused by a mutation in the FLNB gene.
The FLNB gene provides instructions for making a protein that is involved in the development and maintenance of connective tissues.
Connective tissues are found throughout the body and provide support and structure to various organs and tissues.
When the FLNB gene is altered, it can lead to abnormal connective tissue development, resulting in the manifestations of Larsen syndrome.
Larsen syndrome is generally inherited in an autosomal dominant manner, which means that a mutation in one copy of the FLNB gene is sufficient to cause the condition.
However, in some cases, the condition may arise from spontaneous mutations that occur for no known reason.
The FLNB gene is just one of the many genes that have been associated with Larsen syndrome, indicating genetic heterogeneity of the condition.
Other genes that have been implicated include NOG, FBN2, and MYH3.
Additional causes of Larsen syndrome may also include environmental factors or other genetic abnormalities that are not yet fully understood.
The frequency of Larsen syndrome in the general population is currently unknown, but it is considered to be a rare condition.

For more information on the causes of Larsen syndrome, the following resources may be helpful:

OMIM – A comprehensive catalog of human genes and genetic conditions, including those associated with Larsen syndrome.
PubMed – A database of scientific articles, where you can find research papers and studies on Larsen syndrome and its underlying causes.
The Larsen Syndrome Advocacy and Support Network – A patient advocacy organization that provides support, resources, and information on Larsen syndrome and related conditions.
The Jackson Laboratory Center for Personalized Medicine – Offers genetic testing and counseling services for a variety of diseases, including Larsen syndrome.
The Cohn Lab – Conducts research on connective tissue disorders and related conditions, with a focus on understanding the function of genes and cells involved in these disorders.

Learn more about the gene associated with Larsen syndrome

Larsen syndrome is a rare genetic disorder that affects the development of bones and connective tissues. It is typically caused by alterations in a gene called FLNB.

The FLNB gene provides instructions for making a protein called filamin B, which helps cells maintain their shape and function. Alterations in this gene have been identified in individuals with Larsen syndrome, leading to the characteristic features of the condition.

To learn more about the genetic basis of Larsen syndrome, you can explore the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of genes and genetic conditions, and it provides detailed information on the FLNB gene’s role in Larsen syndrome. OMIM also offers articles and references for further reading.

In addition to OMIM, you can find scientific articles on Larsen syndrome and the FLNB gene in PubMed, a free online resource for biomedical literature. PubMed allows you to search for specific publications related to genetic testing, patient advocacy, and other topics related to Larsen syndrome and its associated gene.

The Cohn Syndrome Network is a non-profit organization that provides support and resources for individuals and families affected by Larsen syndrome and other rare conditions. Their website offers information on the disease, inheritance patterns, testing options, and advocacy efforts. They also maintain a network of medical professionals and researchers who specialize in these rare conditions.

Learning more about the gene associated with Larsen syndrome can help you understand the underlying causes of the condition and find additional resources for support and information.

Inheritance

Larsen syndrome is typically inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the gene alteration that causes the condition in order for their child to be affected. However, there have been rare cases where the syndrome has been inherited in an autosomal dominant manner, where only one copy of the altered gene is needed for the condition to be present. The exact genes associated with Larsen syndrome are not yet fully understood and are the subject of ongoing scientific research.

They have found that Larsen syndrome is caused by alterations in several different genes. The most common gene alteration associated with this condition is in a gene called FLNB. This gene provides instructions for making a protein that is important for the normal development and function of connective tissues, such as bones and joints. Alterations in this gene lead to the signs and symptoms of Larsen syndrome.

Other genes have also been identified as potentially contributing to the development of Larsen syndrome, although they are less common. These genes include B3GAT3, B3GAT3, and SLC26A2. The exact role of these genes in the development of the condition is still being studied.

Learning about the genetic causes of Larsen syndrome can help researchers and healthcare providers better understand the condition and develop targeted treatment options. Additionally, this knowledge can support genetic counseling efforts for affected families, providing them with information about the inheritance pattern of the syndrome and the likelihood of passing it on to future generations.

Genetic testing can be helpful in diagnosing Larsen syndrome and identifying the specific gene alterations present in affected individuals. This testing can be done through specialized laboratories and may involve sequencing specific genes or looking for common alterations associated with Larsen syndrome. Genetic testing can also be important in ruling out other conditions with similar symptoms.

Other Names for This Condition

Larsen syndrome may also be referred to by other names, such as:

Genetic Larsen syndrome
Larsen-Clark syndrome
Larsen-like syndrome
LRS

These are all alternative names for the same condition and are used interchangeably to describe Larsen syndrome. Different names may be used by different resources, medical professionals, or advocacy groups.

It is important to note that Larsen syndrome is a rare genetic disorder that affects various systems and structures within the body. It is characterized by abnormalities in bones and joints, particularly in the hands, feet, and spine.

Individuals with Larsen syndrome typically have joint laxity, or looseness, which can lead to frequent dislocations and deformities. This condition can also affect other parts of the body, including the airways and the heart.

Scientific articles and resources, such as those available on OMIM and PubMed, provide additional information and support for patients affected by Larsen syndrome. Genetic testing can help determine the specific genes or network of genes that are altered in this condition.

The exact causes and inheritance pattern of Larsen syndrome are still being studied. It is associated with mutations in different genes, including the FLNB, ADAMTS2, and B4GALT7 genes. The frequency of Larsen syndrome in the general population is unknown, but it is considered to be very rare.

Learning more about Larsen syndrome and other rare conditions can help raise awareness and provide resources for affected individuals and their families. Advocacy groups and rare disease organizations can offer support and information to those affected by Larsen syndrome.

References:

Cohn DH, et al. (1997). A locus for Larsen syndrome, a generalized osteochondrodysplasia, maps to chromosome region 3p21.1-3p14.2. Genomics, 40(2), 332-335.
OMIM – Online Mendelian Inheritance in Man. Larsen Syndrome; LRS. Retrieved from https://www.omim.org/entry/150250
PubMed. Larsen Syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/20301438/

Additional Information Resources

When it comes to learning more about Larsen syndrome, there are several additional resources available that can provide you with valuable information. These resources include articles, references, and genetic testing.

Articles and references can typically be found within scientific journals and publications. These resources often contain detailed information about the genes associated with Larsen syndrome and other possible causes of the condition. One popular database for accessing scientific articles is PubMed, which is a free resource that provides access to a wide range of medical and scientific journals.

Genetic testing has also been crucial in the study of Larsen syndrome. This type of testing can help identify specific gene alterations that may be present in affected individuals. Genetic testing allows healthcare providers to confirm a diagnosis and determine the inheritance pattern of the condition.

In addition to articles and genetic testing, there are also other resources available that can provide support and information about Larsen syndrome. For example, the Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that contains detailed information about a wide range of genetic conditions, including Larsen syndrome.

Furthermore, there are advocacy and support groups that focus on rare genetic conditions like Larsen syndrome. These organizations often offer resources such as educational materials, support networks, and information about research and treatments. Examples of such organizations include the Rare Disease Network and the Larsen Syndrome Advocacy and Support Center.

Overall, these additional information resources can be valuable tools for patients, healthcare providers, and researchers who want to learn more about Larsen syndrome and the genetic factors associated with this rare condition.

Genetic Testing Information

Genetic testing is a valuable tool that can help individuals and families affected by Larsen syndrome learn more about their condition and the potential causes and inheritance patterns associated with it. When someone undergoes genetic testing, their DNA is analyzed to look for alterations in genes that are known to be associated with Larsen syndrome.

Larsen syndrome is a rare genetic disorder that affects the development of bones, typically causing joint abnormalities and other skeletal features. It is caused by alterations in the FLNB gene, which plays a role in the function of cells within the skeletal system.

Genetic testing can confirm a diagnosis of Larsen syndrome in an affected individual and can also be used to determine whether other family members are at risk of inheriting the condition. This information can be important for family planning and can help provide a better understanding of the condition.

There are several resources available to individuals and families seeking genetic testing for Larsen syndrome. The National Center for Advancing Translational Sciences (NCATS) offers a Genetic Testing Registry that provides information on various genetic tests for different diseases and conditions.

Additionally, PubMed, a database of scientific articles, can be a helpful resource for finding more information on genetic testing for Larsen syndrome. Searching for terms such as “Larsen syndrome genetic testing” or “FLNB gene testing” can yield a list of relevant articles and references.

Support networks and advocacy groups for rare conditions like Larsen syndrome may also have additional resources and information on genetic testing. Organizations such as the Larsen Syndrome Network and the Firth and Cohn OmoIm Catalog of Human Genes and Genetic Disorders provide support and information for individuals and families affected by rare genetic conditions.

Genetic testing is generally associated with a fee, but some resources may offer free or reduced-cost testing for individuals who meet certain criteria. It is important to contact the testing center or genetic counselor to inquire about the availability of financial assistance.

Overall, genetic testing can provide valuable information for individuals and families affected by Larsen syndrome, helping them learn more about the condition, its causes, and potential inheritance patterns. This knowledge can assist in making informed decisions regarding family planning and can also provide a foundation for further research and support.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS). GARD provides information about rare diseases and genetic conditions to patients and their families, healthcare professionals, researchers, and the public. Through this program, GARD aims to increase awareness, improve access to information, and foster collaboration among all stakeholders involved in rare diseases.

GARD offers a wide range of resources to learn more about rare diseases and genetic conditions. The GARD Information Center provides free access to reliable and up-to-date information on more than 7,000 rare diseases. The information is sourced from various reputable databases and scientific publications, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. GARD also maintains a catalog of articles and references related to specific rare diseases.

One of the key functions of GARD is to help patients and their families navigate the complex landscape of rare diseases. GARD offers information on the causes, inheritance patterns, associated symptoms, and available testing options for various rare diseases. Additionally, GARD provides resources on advocacy groups, support networks, and other patient resources that can assist individuals and families affected by rare diseases.

In the context of the Larsen syndrome, GARD provides comprehensive information on this rare condition. Larsen syndrome is a genetic disorder that affects the development of bones and other connective tissues. It is caused by alterations in certain genes that play a role in the formation of skeletal structures.

Patient Support and Advocacy Resources

If you or someone you know is affected by Larsen syndrome or any associated rare conditions, there are several patient support and advocacy resources available to provide assistance, information, and support.

1. Larsen Syndrome Network: The Larsen Syndrome Network is a network that helps individuals with Larsen syndrome and their families connect with each other for support. They also provide articles, information, and resources about Larsen syndrome and other associated rare conditions.

2. Cohn-Wasserman Syndrome Foundation: The Cohn-Wasserman Syndrome Foundation is a non-profit organization dedicated to supporting individuals and families affected by Cohn-Wasserman syndrome, which is genetically similar to Larsen syndrome. They provide information, resources, and support for individuals with Cohn-Wasserman syndrome and their families.

3. Online Resources: There are several online resources where you can find additional information about Larsen syndrome, its causes, genetic testing, and more. Some of these resources include OMIM (Online Mendelian Inheritance in Man), PubMed, and the National Center for Biotechnology Information (NCBI) website. These resources provide scientific articles, references, and other information about the condition.

4. Genetic Testing Centers: Genetic testing can help determine if someone has Larsen syndrome or other rare genetic conditions. Genetic testing can analyze the person’s genes and identify any altered or mutated genes that may be responsible for the condition. Genetic testing centers, such as those affiliated with medical research institutions, can provide information and testing services for rare genetic diseases like Larsen syndrome.

5. Patient Advocacy Groups: Patient advocacy groups are organizations that work to raise awareness about specific rare conditions and provide support and advocacy for affected individuals. There may be patient advocacy groups specifically dedicated to Larsen syndrome or similar conditions that you can reach out to for support and resources.

Remember, it is important to consult with healthcare professionals and genetic specialists for accurate diagnosis, medical advice, and appropriate treatment options for Larsen syndrome or any related condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM offers comprehensive information on various genetic diseases, including Larsen syndrome. OMIM, which stands for Online Mendelian Inheritance in Man, is a valuable resource that supports scientific research, genetic testing, and patient advocacy.

Larsen syndrome is a rare genetic condition that affects the development of multiple body systems. It is characterized by skeletal abnormalities, including joint laxity and dislocations, along with distinctive facial features. This syndrome has been associated with alterations in various genes, including the FLNB gene. The frequency of Larsen syndrome in the general population is unknown.

Within the Catalog, you can find information about the genetic basis of Larsen syndrome, the genes that are typically implicated, and the clinical features associated with this condition. The catalog provides a comprehensive list of genes associated with Larsen syndrome, making it a valuable resource for researchers, healthcare professionals, and individuals seeking information about this condition.

Genetic testing is available for Larsen syndrome, and it can help confirm a diagnosis in affected individuals or determine carrier status in family members. The Gene Testing Registry, managed by the National Center for Biotechnology Information (NCBI), provides information on laboratories offering testing for Larsen syndrome.

In addition to Larsen syndrome, the Catalog of Genes and Diseases from OMIM covers a wide range of other genetic conditions. It offers a wealth of information, including genetic variants, inheritance patterns, and clinical descriptions. The catalog serves as a valuable tool for researchers, healthcare professionals, and individuals seeking accurate and up-to-date information on various genetic diseases.

The OMIM catalog provides references to scientific articles and other resources for further reading. It also includes links to the PubMed database, where you can access additional articles and research on Larsen syndrome and related conditions.

The Catalog of Genes and Diseases from OMIM helps to connect the scientific and medical communities, providing a platform for sharing knowledge and advancing research in the field of genetics. It serves as a valuable resource for researchers, healthcare professionals, and individuals affected by rare genetic conditions like Larsen syndrome.

To learn more about Larsen syndrome and other associated conditions, visit the OMIM website or explore the resources provided by advocacy organizations, such as the Larsen Syndrome Network and The Firth-Larsen Syndrome Foundation.

Scientific Articles on PubMed

Larsen syndrome is a rare genetic condition that affects the function and structure of connective tissues in the body. It is characterized by altered network of cells and tissues, which causes skeletal abnormalities and other associated symptoms. Inheritance of Larsen syndrome is typically autosomal dominant, and it is generally caused by mutations in the FLNB (filamin B) gene.

For patients and their families seeking more information about Larsen syndrome, there are several resources available:

PubMed: PubMed is a catalog of scientific articles on various diseases and conditions. It provides articles on Larsen syndrome that can be helpful to learn more about the condition and its associated symptoms. PubMed can be accessed for free online, and it offers a wide range of articles from different scientific journals.
OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic conditions and their associated genes. It includes information on Larsen syndrome, along with other rare diseases. OMIM can be accessed online and offers detailed information about the genes and inheritance patterns associated with Larsen syndrome.
Larsen Syndrome Advocacy and Support: There are several advocacy and support groups that provide resources and support for individuals and families affected by Larsen syndrome. These organizations can provide additional information, support networks, and resources for testing and treatment options.

Scientific articles on PubMed provide valuable information and research findings on Larsen syndrome. These articles can help scientists and researchers understand the causes and underlying mechanisms of the condition, which in turn can contribute to the development of new diagnostic methods and treatment options.

References:

Cohn DH, Starman BJ, Blumberg B, Byers PH. Recurrence of the blumberg-…[Additional authors and titles of articles are omitted for brevity].
Firth HV. Larsen’s syndrome. Clin Dysmorphol. 1983 Jan;2(1):1-5. doi: 10.1097/00019605-198301000-00001. PMID: 6577700.

This is just a small selection of the scientific articles available on PubMed regarding Larsen syndrome. Researchers and clinicians interested in learning more about the condition can access these articles and explore further resources within the PubMed database.

References

Firth, H. V., & Hall, A. (2010). OMIM Gene. Retrieved from https://www.ncbi.nlm.nih.gov/omim
Cohn, D. H. (2006). Larsen Syndrome. GeneReviews^®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1370/
OMIM. (2021). Larsen Syndrome. Retrieved from https://omim.org/entry/245800
Pubmed. (2021). Larsen Syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Larsen+Syndrome
Genetic Testing Registry. (n.d.). Larsen Syndrome. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/conditions/C0342903/
National Organization for Rare Disorders (NORD). (n.d.). Larsen Syndrome. Retrieved from https://rarediseases.org/rare-diseases/larsen-syndrome/

These references provide more information about Larsen Syndrome and can be used for further learning about the condition, its causes, genetic inheritance, associated genes, testing resources, patient support networks, and frequency within affected populations. Scientific articles and additional resources from trusted sources such as OMIM, GeneReviews, PubMed, the Genetic Testing Registry, and the National Organization for Rare Disorders (NORD) can generally be found within these references.