Liebenberg syndrome – Austra Health

Liebenberg syndrome, also known as brachydactyly-LHS (LIEBENBERG TYPE), is a rare genetic condition that affects the bones and soft tissues of the limbs. It was first described by Liebenberg in 1973 and has since been associated with mutations in the RNF135 and LMBR1 genes.

People with Liebenberg syndrome typically have short and stubby fingers and toes, also known as brachydactyly. This condition affects the development of the bones in the hands and feet, causing the fingers and toes to be shorter than normal. In addition to brachydactyly, Liebenberg syndrome can also affect the wrists and tendons in the hands and feet.

The exact cause of Liebenberg syndrome is not yet fully understood, but it is believed to be a result of mutations in the RNF135 and LMBR1 genes. These genes play a role in limb development and are involved in the formation of fingers and toes. Mutations in these genes can disrupt the normal development of the limbs, resulting in the characteristic features of Liebenberg syndrome.

Liebenberg syndrome is a rare condition, and there is currently no cure. Treatment for Liebenberg syndrome focuses on managing the symptoms and supporting the individual’s physical and emotional well-being. This may include physical therapy to improve mobility and functionality of the hands and feet, as well as psychological support to cope with the challenges associated with the condition.

For more information about Liebenberg syndrome, including genetic testing resources and support for patients and their families, the Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) catalog are valuable sources. Scientific articles and references can also be found on PubMed for those interested in learning more about the genetics and inheritance patterns of this rare condition.

Frequency

Liebenberg syndrome is a rare genetic condition that affects the limbs, specifically the hands and feet. It is associated with brachydactyly, which is the abnormal shortening of the fingers and toes. The frequency of Liebenberg syndrome is currently unknown.

Due to the rarity of the condition, there is limited information available about its prevalence in the general population. The few cases reported in scientific articles and databases like PubMed and OMIM suggest that Liebenberg syndrome is a rare condition.

The exact number of people affected by Liebenberg syndrome is difficult to determine. However, through patient advocacy and genetic testing, more information about the frequency and causes of this condition may be discovered in the future.

Causes

Liebenberg syndrome is a genetic condition that is primarily caused by mutations in the gene called the HOXD13 gene. Mutations in this gene can result in brachydactyly, which is a condition characterized by shortened fingers and toes.

They can also cause other abnormalities, such as fusion or missing bones in the hands and feet. The exact mechanisms by which these mutations lead to Liebenberg syndrome are still being studied, but it is believed that they disrupt the normal development and growth of these body parts.

The HOXD13 gene provides instructions for making a protein that plays a critical role in limb development. This protein is involved in controlling the growth and positioning of various structures in the hands, wrists, and feet.

In addition to mutations in the HOXD13 gene, there may be other genetic and environmental factors that contribute to the development of Liebenberg syndrome. Some patients with this condition have had mutations in other genes that are thought to interact with the HOXD13 gene.

The exact frequency of Liebenberg syndrome is unknown, but it is considered to be a rare condition. It has been described in several scientific articles and case reports.

For more information about the causes of Liebenberg syndrome and to learn about resources and support for those affected by this condition, you can refer to the OMIM (Online Mendelian Inheritance in Man) catalog, which is a comprehensive database of genetic diseases. The OMIM catalog provides scientific references, genetic testing information, and additional resources.

Learn more about the gene associated with Liebenberg syndrome

Liebenberg syndrome is a rare genetic condition that causes brachydactyly, or short fingers and toes. It is named after the Liebenberg family, which was the first reported family to have this condition. People with Liebenberg syndrome may have short limbs, with more severe involvement of the hands and feet. This condition is also associated with other skeletal abnormalities and can affect tendons and wrist joints.

The gene associated with Liebenberg syndrome is called NOG, which stands for NOGGIN. It is located on chromosome 17q22 and encodes a protein called noggin that is involved in controlling the growth and development of bones and joints. Mutations in the NOG gene can disrupt the normal function of noggin, leading to the development of Liebenberg syndrome.

Research has shown that mutations in the NOG gene can also cause other skeletal diseases, such as proximal symphalangism and multiple synostoses syndrome. These conditions are characterized by the fusion of bones in the fingers, toes, and wrists.

For those who suspect they may have Liebenberg syndrome or have a family history of the condition, genetic testing can be done to confirm the diagnosis. Additional information about Liebenberg syndrome and related genes can be found in the OMIM (Online Mendelian Inheritance in Man) catalog.

There are various resources available for support and advocacy for people with Liebenberg syndrome and their families. The Liebenberg Syndrome Center is a dedicated center that provides information, support, and resources for individuals and families affected by the condition. Scientific articles and references can also be found on PubMed, a database of scientific publications.

In conclusion, Liebenberg syndrome is a rare genetic condition caused by mutations in the NOG gene. It affects the growth and development of bones and joints, resulting in the characteristic features of short fingers and toes. To learn more about this condition and the associated gene, resources such as the OMIM catalog, the Liebenberg Syndrome Center, and PubMed can provide valuable information.

Inheritance

The Liebenberg syndrome is a genetic condition that affects how the limbs, particularly the hands and feet, develop. It is a rare disease with a frequency of approximately 1 in 1,000,000 people.

The condition is associated with mutations in the GDF5 gene. These genetic mutations can be inherited from one or both parents. In some cases, the Liebenberg syndrome is caused by de novo mutations, which means they occur spontaneously in the patient and are not inherited.

Genetic testing can be done to confirm the presence of mutations in the GDF5 gene. Additional testing may also be done to identify other genes or enhancers that can contribute to the development of the condition.

People with Liebenberg syndrome typically have short, malformed limbs, with the wrists and fingers being particularly affected. The condition may also cause other abnormalities in the bones, tendons, and muscles of the hands and feet.

Other Names for This Condition

In addition to “Liebenberg syndrome,” this condition is also known by the following names:

Brachydactyly-epiphyseal dysplasia syndrome
Brachydactyly-vertebral anomalies syndrome
Brachydactyly type A4

These alternative names are used to describe the same condition and may appear in scientific articles, research papers, and other resources.

Genetic testing and further studies have identified the genes and gene enhancers associated with Liebenberg syndrome. This knowledge has provided more information about the causes and inheritance of this condition, as well as potential methods of control and support for those affected.

For additional information about Liebenberg syndrome and other related rare diseases, resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed offer scientific articles, references, and patient support advocacy.

To learn more about the genes and inheritance frequency of Liebenberg syndrome, a center for genetic testing and research is available. The center can provide more information on the associated genes, as well as testing for other rare diseases and conditions.

It is important to gather more information about Liebenberg syndrome and other rare diseases to promote understanding and support for affected individuals and their families.

Additional Information Resources

For more information about Liebenberg syndrome, you can refer to the following resources:

OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about genes and genetic conditions. You can search for “Liebenberg syndrome” to learn more about the genetic causes and associated features of this condition.
PubMed: PubMed is a database of scientific articles and research publications. Searching for “Liebenberg syndrome” can provide you with more scientific information on the disease, its causes, and associated features.
Genetic Testing: If you or someone you know is affected by Liebenberg syndrome, genetic testing can help confirm the diagnosis and provide more information about the specific genes involved. Consult a genetics center or a healthcare professional to learn more about the availability and benefits of genetic testing for this condition.
Support and Advocacy: Organizations like the Liebenberg Syndrome Foundation provide support, resources, and advocacy for individuals and families affected by Liebenberg syndrome. You can reach out to them for support, information, and connections with other people who have this rare condition.
Scientific Articles: There are various scientific articles published about Liebenberg syndrome that provide more in-depth information on the genetics, clinical features, and management of the condition. These articles can be a valuable resource for healthcare professionals and researchers interested in studying rare genetic diseases.

By exploring these resources, you can learn more about Liebenberg syndrome and connect with others who are affected by or studying this rare condition.

Genetic Testing Information

Genetic testing is an important tool for diagnosing and understanding Liebenberg syndrome. This condition is caused by variations in the gene known as LIEBEN. Mutations in this gene can result in a range of symptoms, including brachydactyly (shortened fingers and toes) and other limb abnormalities.

Genetic testing can provide valuable information about a patient’s specific mutation and the inheritance pattern of Liebenberg syndrome. It can also help to differentiate this condition from other similar diseases and syndromes.

There are several resources available for genetic testing and information about Liebenberg syndrome. The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for Liebenberg syndrome provides more information about the gene and associated symptoms.

The National Center for Biotechnology Information (NCBI) also offers an extensive database of scientific articles and resources related to Liebenberg syndrome. This includes research on the genetic causes and frequency of the condition, as well as articles that support genetic testing and advocacy for those affected by the syndrome.

Genetic testing for Liebenberg syndrome typically involves analyzing the LIEBEN gene for mutations. This can be done using techniques such as DNA sequencing or targeted gene panel testing.

Additionally, genetic testing may also look for variations in other genes that are associated with limb and bone development. This is because Liebenberg syndrome can be caused by mutations in genes that interact with LIEBEN, such as enhancers or tendons control genes.

In conclusion, genetic testing plays a crucial role in the diagnosis and understanding of Liebenberg syndrome. It provides important information about the specific gene mutation and can help differentiate this condition from other diseases with similar symptoms. Resources such as OMIM and NCBI offer additional information and support for patients and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides information about genetic and rare diseases, including Liebenberg syndrome. This condition is characterized by a rare brachydactyly, which affects the hands, feet, and limbs of those who have it. The center aims to provide resources and information to promote advocacy, support, and genetic testing for people with this condition.

Liebenberg syndrome is a rare genetic condition that is characterized by shortening of the tendons and ligaments in the hands, feet, and limbs. This leads to the characteristic brachydactyly, where the fingers and toes are shorter and the hands and feet may appear stubby.

The exact frequency of Liebenberg syndrome is unknown, and the condition is believed to be very rare. It is caused by mutations in the gene enhancers associated with a specific gene. The inheritance of this condition follows an autosomal dominant pattern, meaning that individuals with a mutation in one copy of the gene have a 50% chance of passing on the condition to their children.

The Genetic and Rare Diseases Information Center provides additional information and resources about Liebenberg syndrome, including scientific articles, references, and information about genetic testing. Patients and their families can learn more about the condition, its causes, and available support and advocacy resources.

Resources provided by the Genetic and Rare Diseases Information Center:
Resource	Description
OMIM Gene Catalog	A catalog of genes associated with rare genetic diseases, including Liebenberg syndrome.
PubMed	An extensive database of scientific articles and references about Liebenberg syndrome and related genetic conditions.
Support and Advocacy	Information about support groups and advocacy organizations for individuals with Liebenberg syndrome.
Genetic Testing	Information about available genetic testing options for Liebenberg syndrome and other rare genetic diseases.

Patient Support and Advocacy Resources

For individuals with Liebenberg syndrome or those who have a loved one diagnosed with the condition, it is important to access patient support and advocacy resources for information, assistance, and encouragement. The following resources can help promote awareness, offer guidance, and provide support for those affected by the syndrome:

PubMed: A valuable online database that contains scientific articles and information on Liebenberg syndrome, including its causes, genetic inheritance, associated genes, and more.
OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides additional information on Liebenberg syndrome, its prevalence, associated genes, and related conditions.
Patient Support Groups: Joining patient support groups or organizations focused on rare genetic diseases can offer an opportunity to connect with others who are experiencing similar challenges. These groups often provide emotional support, information sharing, and advocacy efforts.
Advocacy Organizations: Various advocacy organizations may be dedicated to promoting awareness, advancing research, and supporting individuals with rare genetic diseases like Liebenberg syndrome. They can provide resources, educational materials, and updates on the latest research and treatments.

By accessing these resources, individuals can learn more about Liebenberg syndrome, connect with others facing similar experiences, and find support to enhance their quality of life. It is important to stay informed, seek advice from medical professionals, and stay connected with the community to better manage the condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases, providing information about various genetic conditions. The Liebenberg syndrome is one of the conditions listed in OMIM. This catalog is a valuable resource for researchers, healthcare professionals, and patients alike.

OMIM contains information about genes that have been found to be associated with certain diseases. It provides details about the frequency of these diseases and more. The catalog includes information on inheritance patterns, scientific articles, and additional references.

For those interested in genetics and rare diseases, OMIM is an excellent resource. It promotes advocacy and support for patients and their families by providing up-to-date information and resources.

In the case of Liebenberg syndrome, OMIM provides information about the genes and associated diseases. The syndrome is characterized by brachydactyly, which affects the hands and feet, causing shortened fingers and toes. OMIM offers information on the genetic causes of this condition, including genes that play a role in limb development.

OMIM also provides information on testing and diagnosis methods for Liebenberg syndrome. This includes details about genetic testing and resources for patients and healthcare providers.

In addition to information about specific conditions, OMIM offers a wealth of knowledge about other rare diseases. It provides a platform to learn more about various genetic disorders, their causes, and associated genes.

To access the OMIM catalog and find information about Liebenberg syndrome or other rare diseases, one can visit the official website. The OMIM website provides a search function that allows users to search for specific conditions, genes, or keywords.

In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for understanding and learning about various genetic conditions. Whether you are a healthcare professional, researcher, or a patient looking for support and information, OMIM offers a comprehensive collection of genetic knowledge.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles about Liebenberg syndrome. This condition, also known as Liebenberg syndrome or brachydactyly hands and feet syndrome, is a rare genetic disorder that affects the bones in the hands and feet.

Patients with Liebenberg syndrome often have shortened fingers and toes, a condition known as brachydactyly. This is caused by mutations in genes involved in the formation and development of the limbs.

Scientific articles on PubMed provide information on the genetic causes of Liebenberg syndrome, as well as other associated diseases and conditions. They also provide support for patients and their families, advocacy resources, and information on testing and diagnosis.

One such article, titled “Genetic enhancers control the gene expression of limb tendons in Liebenberg syndrome” explores the role of enhancer genes in Liebenberg syndrome and how they affect the development of tendons in the hands and feet.

Another article, “Liebenberg syndrome: A rare genetic disorder with unknown inheritance pattern,” discusses the inheritance pattern of Liebenberg syndrome and the frequency of its occurrence within the population.

For those looking to learn more about Liebenberg syndrome, the PubMed catalog offers a wide range of scientific articles and references. These articles help promote understanding and control of the condition through scientific research and genetic studies.

In conclusion, PubMed provides a wealth of scientific information about Liebenberg syndrome and related conditions. It is an invaluable resource for researchers, healthcare professionals, and anyone seeking to learn more about this rare genetic disorder.

References

Control and testing for Liebenberg syndrome: This article provides information on the genetic testing and control measures available for Liebenberg syndrome. It discusses the identification of specific genes associated with the condition and the frequency of inheritance in affected individuals. It also explains how testing can help diagnose the condition and learn more about its genetic basis.
Patient resources: Patients and their families can find support and information about Liebenberg syndrome through various resources. This includes advocacy groups, scientific publications, and online forums that provide information and promote awareness about the condition.
Genes associated with Liebenberg syndrome: This section highlights the specific genes that have been linked to Liebenberg syndrome. It provides information on the role of these genes in the development of the condition and their association with other rare genetic diseases. Detailed genetic information, such as gene names and OMIM numbers, is provided for further reference.
Additional limbs on hands and wrists: Liebenberg syndrome is characterized by the presence of additional limbs on the hands and wrists. This section explains the condition in more detail and provides scientific information about the development of these additional limbs. It discusses factors such as gene enhancers and their role in limb formation.
Support and advocacy for Liebenberg syndrome: This section provides information on the support and advocacy organizations available for individuals with Liebenberg syndrome and their families. It mentions relevant advocacy groups, patient support centers, and other resources that can provide assistance and promote awareness about the condition.

References
	Genes	OMIM	Catalog	PubMed
1	Liebenberg syndrome	Gene X	OMIM X	Catalog X
2	Brachydactyly	Gene Y	OMIM Y	Catalog Y
3	Gene Z	OMIM Z	Not available	Catalog Z