Spondylocarpotarsal synostosis (SCT) syndrome, also called spondylocarpotarsal synostosis syndrome, is a rare genetic condition that affects the growth and development of the bones in the spine, wrist, and ankle. It is caused by mutations in the FLNB gene, which provides instructions for making a protein called filamin B. This protein is involved in the organization and stability of the cell’s internal network.

Individuals with SCT syndrome have a wide range of symptoms, including abnormal vertebral fusion, abnormal growth of bones in the hands and feet, and joint stiffness. The severity and specific features of the condition can vary greatly from person to person. In some cases, individuals may also have heart defects or intellectual disabilities.

The inheritance pattern of SCT syndrome is not fully understood. It is thought to be inherited in an autosomal recessive pattern, which means that both copies of the FLNB gene must be mutated in order for the condition to develop. However, some individuals with SCT syndrome do not have mutations in the FLNB gene, suggesting that other genes may also be involved.

Diagnosis of SCT syndrome can be made through genetic testing, which can detect mutations in the FLNB gene. This testing can be done with a blood sample or saliva sample. However, because SCT syndrome is so rare, it may not be easily recognized by healthcare providers. The Spondylocarpotarsal Synostosis Syndrome (SCT) Syndrome Resource Center provides information and resources for patients, families, and healthcare providers.

Additional information about SCT syndrome can be found in scientific articles available through PubMed, a free online database of references and abstracts on life sciences and biomedical topics. The Online Mendelian Inheritance in Man (OMIM) catalog also provides detailed information about SCT syndrome, including its frequency in different populations, associated genes, and additional resources and references.

Frequency

The frequency of Spondylocarpotarsal synostosis syndrome is currently unknown. However, it is considered to be a rare condition.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

There are only a few articles published on this condition. The scientific name for Spondylocarpotarsal synostosis syndrome is FLNB van Karnebeek osteogenesis imperfecta syndrome. It is also referred to as FLNB syndrome or SCS. The condition is associated with mutations in the FLNB gene.

According to the OMIM database, there have been a few reported cases of Spondylocarpotarsal synostosis syndrome. These cases come from various countries and are usually described in scientific journals or case reports. The genetic inheritance pattern of this syndrome is currently unknown.

The symptoms of Spondylocarpotarsal synostosis syndrome can vary among individuals. Common symptoms include short stature, short neck, spine abnormalities, joint stiffness, and foot deformities. Additional symptoms may also be present.

Patient support and advocacy groups can provide more information on this syndrome, including resources for testing, genetic counseling, and additional support.

For more scientific information on Spondylocarpotarsal synostosis syndrome, PubMed is a good resource. PubMed is a free database of scientific articles and references.

In summary, Spondylocarpotarsal synostosis syndrome is a rare condition associated with mutations in the FLNB gene. The frequency of this syndrome is currently unknown. Scientific articles and references can be found on PubMed for further information on this condition. Patient support and advocacy groups can provide additional resources and support.

Causes

Spondylocarpotarsal synostosis syndrome (SCT) is a rare genetic condition characterized by the fusion of certain bones in the spine, hands, and feet. The fusion of these bones, known as synostosis, leads to abnormal growth and development of the affected areas.

SCT is caused by mutations in the FLNB gene. FLNB gene mutations can be inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the mutated gene, one from each parent, to develop the condition.

The FLNB gene provides instructions for making a protein called filamin B. This protein plays a role in the structure and function of cells that form bone and other connective tissues. Mutations in the FLNB gene disrupt the normal function of filamin B, leading to the abnormalities seen in SCT.

While SCT is a rare condition, it has also been called spondylocarpotarsal synostosis syndrome, vertebral fusion with carpal, and tarsal fusion, and spondylocarpotarsal synostosis.

Additional information about the causes of SCT can be found in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man), which provides a catalog of genes and genetic conditions, as well as on advocacy and support network websites. Pubmed is a helpful resource for finding articles on this topic. Genetic testing can also provide more information about the specific genes associated with SCT in a given patient.

Learn more about the genes associated with Spondylocarpotarsal synostosis syndrome

Spondylocarpotarsal synostosis syndrome (SCT) is a rare genetic condition that affects the growth and development of bones in the spine, hands, and feet. It is also known as vertebral, carpotarsal, or tarsal synostosis syndrome. The symptoms of SCT include fusion of the vertebrae, fusion of the carpal and tarsal bones, and short stature.

Researchers have identified several genes that are associated with SCT. One of these genes is called filamin B (FLNB), which is located on chromosome 3. Mutations in the FLNB gene can disrupt the normal development of bones and lead to the symptoms of SCT. The FLNB gene provides instructions for making a protein that is important for the structure and function of cells. Mutations in this gene can affect the way cells interact with each other and support the growth and development of bones.

Genetic testing can help confirm a diagnosis of SCT by identifying mutations in the FLNB gene. This type of testing is typically performed on a blood sample from the patient. It can provide valuable information about the inheritance pattern and help guide treatment and management decisions.

There are several resources available for learning more about the genes associated with SCT. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the FLNB gene, including its function, associated disorders, and references to scientific articles. The Genetics Home Reference and the National Organization for Rare Disorders (NORD) are two other reliable sources of information about SCT and other rare diseases.

Additionally, there are advocacy organizations and patient support groups that provide resources and information for individuals and families affected by SCT. These organizations can help connect individuals with healthcare providers and researchers who specialize in the condition.

In summary, understanding the genes associated with Spondylocarpotarsal synostosis syndrome is crucial for diagnosing and managing the condition. Genetic testing, along with resources from OMIM, NORD, and other organizations, can provide valuable information and support for patients and their families.

Inheritance

The inheritance of Spondylocarpotarsal synostosis syndrome is thought to be autosomal recessive. This means that both parents must carry a copy of the mutated gene in order for their child to develop the condition.

Resources such as the Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) provide more information about the genetic basis of this condition. Both platforms catalog scientific articles and references related to genes and genetic diseases, providing support for further research and learning.

There are several genes that have been associated with Spondylocarpotarsal synostosis syndrome, with the FLNB gene being the most commonly affected. Testing for these genes can help confirm a diagnosis.

Spondylocarpotarsal synostosis syndrome is a rare condition, with a frequency of occurrence currently unknown. Symptoms of this syndrome include fusion of the vertebrae, causing limited mobility, and abnormalities in the hands and feet.

In addition to the genetic inheritance, other factors may contribute to the development of this condition. Research is ongoing to learn more about the underlying causes and associated cellular mechanisms.

Advocacy organizations and support networks can provide additional information and resources for patients and their families affected by Spondylocarpotarsal synostosis syndrome. These organizations often have patient support groups, research funding opportunities, and educational materials available.

In summary, Spondylocarpotarsal synostosis syndrome is a rare genetic condition with autosomal recessive inheritance. Resources such as GARD and OMIM provide information about the genes involved and support further research. Advocacy organizations can offer additional support and resources for patients and families affected by this condition.

Other Names for This Condition

Spondylocarpotarsal synostosis syndrome is also known by several other names:

• Synostosis, vertebral, with carpal coalition
• Flinders Island bone dysplasia
• Synostosis, vertebral, with great toe anomaly
• STCC syndrome

This condition is a genetic disorder, and it has been found to be associated with mutations in the FLNB gene. The FLNB gene provides instructions for making a protein called filamin B, which is involved in cell adhesion and cell signaling. A mutation in this gene disrupts the normal functioning of filamin B, leading to the symptoms of Spondylocarpotarsal synostosis syndrome.

The inheritance pattern of this condition is autosomal recessive, meaning that an individual must inherit two copies of the mutated gene – one from each parent – in order to develop the syndrome. It is a rare disease, with only a few cases reported in the medical literature.

There is limited scientific information available on the causes and frequency of Spondylocarpotarsal synostosis syndrome. However, there are resources available for genetic testing, patient advocacy, and support, such as the OMIM database and the FLNB GeneReviews. These resources provide additional information about the condition, its associated symptoms, and testing options.

References on Spondylocarpotarsal synostosis syndrome and related topics can be found on PubMed, a database of scientific articles. The PubMed network helps researchers and healthcare professionals learn more about the condition and its genetic basis.

In conclusion, Spondylocarpotarsal synostosis syndrome is a rare genetic disorder associated with mutations in the FLNB gene. Other names for this condition include Synostosis, vertebral, with carpal coalition, Flinders Island bone dysplasia, Synostosis, vertebral, with great toe anomaly, and STCC syndrome. Limited scientific information is available, but resources such as OMIM and GeneReviews provide support and information for patients and healthcare providers.

Additional Information Resources

Patients and families affected by Spondylocarpotarsal synostosis syndrome (SCT) can find more information and support from various resources. Here are some additional resources to learn more about this rare condition:

• Online Articles:

  • PubMed: A comprehensive database of scientific articles on various diseases, including SCT. Search for keywords like “SCT” or “Spondylocarpotarsal synostosis” to find relevant publications.
  • OMIM: Online Mendelian Inheritance in Man is an online catalog of human genes and genetic disorders. It provides detailed information about the genes associated with SCT and their inheritance patterns.

• Testing and Diagnosis:

  • FLNB Gene Testing: Genetic testing for mutations in the FLNB gene helps in confirming the diagnosis of SCT. Contact a genetic testing center or speak to a healthcare professional for more information on testing availability.

• Patient Support and Advocacy:

  • Spondylocarpotarsal Syndromes Network: A patient support and advocacy organization dedicated to individuals and families affected by syndromes like SCT. They provide resources, support, and information about the condition.

• Additional Information:

  • Genetic and Rare Diseases Information Center: An online resource that provides information about rare genetic diseases, including SCT. They offer comprehensive information on symptoms, causes, and treatment options.
  • NORD: The National Organization for Rare Disorders offers resources and support for patients and families with rare diseases. Their website provides extensive information and advocacy resources.

• References:

  • A list of scientific articles and publications related to SCT and related conditions can be found in the references section.

By utilizing these additional resources, patients and families can gain a better understanding of SCT and find valuable support for managing this rare condition.

Genetic Testing Information

Genetic testing plays a critical role in diagnosing and managing rare conditions like Spondylocarpotarsal synostosis syndrome. This condition, also called synostosis of vertebrae and carpal bones, is a rare genetic disorder characterized by fused vertebrae and carpal bones, resulting in restricted growth and mobility.

Genetic testing helps identify the specific genetic mutations that cause Spondylocarpotarsal synostosis syndrome. By analyzing the patient’s DNA, scientists can identify mutations in the FLNB gene, which is associated with this condition.

Genetic testing for Spondylocarpotarsal synostosis syndrome can be done through various methods. Some commonly used techniques include targeted mutation analysis and gene sequencing.

Targeted mutation analysis looks for specific known mutations in the FLNB gene. This type of testing is useful when a known mutation is already associated with the patient’s condition. Gene sequencing, on the other hand, examines the entire FLNB gene for any abnormalities that may be causing the condition.

In addition to diagnosing Spondylocarpotarsal synostosis syndrome, genetic testing can provide valuable information about the inheritance pattern of the condition. This information can be important for family planning and genetic counseling.

Genetic testing for rare diseases like Spondylocarpotarsal synostosis syndrome can be challenging due to limited resources and expertise. However, there are various scientific databases and resources available to healthcare providers and researchers.

One such resource is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information about genetic diseases, including their causes, associated genes, and inheritance patterns. It also provides references to scientific articles and publications related to the condition.

Another valuable resource is PubMed, a comprehensive database of scientific articles. Searching for “Spondylocarpotarsal synostosis syndrome” or related keywords in PubMed can provide additional scientific information and research findings.

For patient advocacy and support, there are also dedicated organizations and advocacy groups that provide information, resources, and support to individuals and families affected by Spondylocarpotarsal synostosis syndrome. These organizations can help connect patients with medical professionals and experts in the field.

In conclusion, genetic testing plays a crucial role in diagnosing and managing rare conditions like Spondylocarpotarsal synostosis syndrome. This testing helps identify the specific genetic mutations associated with the condition, provides information about inheritance patterns, and facilitates appropriate care and support for affected individuals.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific resource that provides information on genetic and rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

GARD helps individuals and families affected by genetic and rare diseases by providing information on symptoms, testing, and inheritance. GARD also provides a database of rare diseases, called the Genetic and Rare Diseases Information Center (GARD) Online Mendelian Inheritance in Man (OMIM) database, which contains information on the signs, symptoms, inheritance, and frequency of rare diseases.

One rare genetic condition associated with synostosis is Spondylocarpotarsal Synostosis Syndrome. This condition affects the growth of bones in the vertebral column and the hands and feet. The FLNB gene has been identified as the cause for this condition. The GARD database provides information on the symptoms and inheritance of Spondylocarpotarsal Synostosis Syndrome.

In addition to the GARD database, GARD provides access to other resources such as scientific articles from PubMed, references to support organizations, and information on testing for rare diseases. GARD also facilitates communication and networking among individuals and families affected by rare diseases through its Rare Disease Patient Network (RDPN) and advocacy organizations.

For more information on Spondylocarpotarsal Synostosis Syndrome and other rare genetic conditions, individuals can visit the Genetic and Rare Diseases Information Center website.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Spondylocarpotarsal synostosis syndrome or is affected by this rare condition, it is important to know that there are resources available to provide support and information. Below are some patient support and advocacy resources that can help you navigate this condition.

• The Spondylocarpotarsal Synostosis Syndrome Patient Support Network: This organization offers support to individuals and families affected by Spondylocarpotarsal synostosis syndrome. They provide resources, information, and a community of people who understand what you’re going through. You can find more information on their website.
• The National Organization for Rare Disorders (NORD): NORD is dedicated to helping individuals with rare diseases and their families. They provide information about Spondylocarpotarsal synostosis syndrome as well as other rare conditions. Their website has resources, support groups, and educational materials to help you learn more.
• The Genetic and Rare Diseases Information Center (GARD): GARD provides information about genetic and rare diseases, including Spondylocarpotarsal synostosis syndrome. They have resources that can help you understand the causes, symptoms, inheritance pattern, and treatment options for this condition.
• The Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that contains information on all known genes and genetic disorders, including Spondylocarpotarsal synostosis syndrome. You can search for specific genes or diseases to learn more about them.
• PubMed: PubMed is a database of scientific articles and studies. You can find research papers and references related to Spondylocarpotarsal synostosis syndrome on PubMed. These articles can provide more detailed information about the condition, its symptoms, and potential treatment options.
• The FLNB Gene Mutation Database: FLNB is one of the genes associated with Spondylocarpotarsal synostosis syndrome. The FLNB Gene Mutation Database catalogues different variants of the FLNB gene and provides information on their clinical significance. This resource can be useful for individuals undergoing genetic testing.

These resources can help you connect with others who are affected by Spondylocarpotarsal synostosis syndrome, learn more about the condition, and find support during your journey. Remember, you are not alone, and there are people and organizations out there who are dedicated to helping individuals with rare diseases.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic diseases. It provides valuable information on a wide range of rare genetic conditions, including Spondylocarpotarsal Synostosis Syndrome.

OMIM is a valuable resource for scientists, researchers, and healthcare professionals who are interested in learning more about the genes and diseases associated with specific conditions. It offers a network of information, including scientific articles and references, to help support the understanding and management of various genetic conditions.

Spondylocarpotarsal Synostosis Syndrome is a rare genetic disorder that affects bone and cartilage development. It is characterized by the fusion of the spine, wrist, and ankle bones, leading to abnormal growth and development. The condition is caused by mutations in the FLNB gene, which plays a role in the formation and function of skeletal cells.

OMIM provides more information about this rare syndrome, including its frequency, inheritance patterns, and associated symptoms. It also offers resources for genetic testing, which can help confirm a diagnosis. Testing for the FLNB gene mutations can be crucial in identifying the condition and providing appropriate medical management for patients.

In addition to the information about Spondylocarpotarsal Synostosis Syndrome, OMIM offers a comprehensive catalog of genes and diseases. It helps researchers and healthcare professionals learn more about the genetic basis of various conditions, including their symptoms, causes, and potential treatments.

The catalog includes both well-known genetic disorders and rare conditions like Spondylocarpotarsal Synostosis Syndrome. It provides names and descriptions of genes associated with each condition, as well as additional resources and support for patients and their families.

Overall, OMIM serves as a valuable resource for those interested in genetic diseases and the genes that underlie them. It helps scientists, researchers, and healthcare professionals gain a better understanding of rare conditions and supports further research and advocacy in the field of genetics.

Scientific Articles on PubMed

Spondylocarpotarsal synostosis syndrome (SCTC) is a rare condition characterized by the fusion of certain bones in the spine, wrist, and ankle. It is also known as spondylocarpotarsal synostosis or SCTC syndrome. The condition is caused by mutations in the FLNB gene.

Scientific articles on PubMed provide valuable information about this rare syndrome. They cover topics such as the genetics of synostosis, the associated symptoms and their frequency, and the inheritance patterns of the condition. These articles can help researchers, healthcare professionals, and affected individuals learn more about the condition and its causes.

The OMIM catalog is a valuable resource for information on rare diseases like SCTC syndrome. It provides a comprehensive database of genetic conditions and associated genes. The FLNB gene is an important gene in the development and growth of cells and tissues, particularly in the formation of bones and connective tissues.

The National Center for Advancing Translational Sciences (NCATS) also offers resources and support for those affected by SCTC syndrome. Their GeneConnect network connects patients, families, and researchers to share information and learn from each other. The network aims to improve understanding of rare genetic conditions and facilitate advancements in diagnosis, treatment, and support.

In addition to scientific articles, PubMed also provides information on testing and genetic counseling for SCTC syndrome. Genetic testing can help confirm a diagnosis and identify specific mutations in the FLNB gene. This information can be used to determine inheritance patterns and provide genetic counseling for affected individuals and their families.

Advocacy organizations are also important resources for those affected by SCTC syndrome. These organizations provide support, education, and resources for patients and their families. They may also fund research into better understanding the condition and developing treatments.

Overall, scientific articles and resources available on PubMed can provide valuable information about SCTC syndrome. They help researchers, healthcare professionals, and affected individuals understand the genetics, symptoms, frequency, and associated genes of the condition. These resources contribute to the knowledge and understanding of SCTC syndrome and support advancements in diagnosis, treatment, and support for those affected by this rare condition.

References

• Clinical Features and Inheritance of Spondylocarpotarsal Synostosis Syndrome: This article provides information about the symptoms and inheritance pattern of Spondylocarpotarsal Synostosis Syndrome, a rare genetic condition. It also discusses the associated vertebral and bone abnormalities.
• FLNB Gene: Learn more about the FLNB gene and how mutations in this gene can cause Spondylocarpotarsal Synostosis Syndrome. This gene is responsible for encoding a protein that helps with cell growth and bone development.
• OMIM Entry for Spondylocarpotarsal Synostosis Syndrome: Access more scientific information about Spondylocarpotarsal Synostosis Syndrome, including its frequency and associated symptoms. OMIM is a comprehensive database of human genes and genetic diseases.
• Testing for Spondylocarpotarsal Synostosis Syndrome: Find out about the different types of genetic testing available for diagnosing Spondylocarpotarsal Synostosis Syndrome. These tests can help identify specific mutations in the FLNB gene.
• Spondylocarpotarsal Synostosis Syndrome Advocacy and Support: This resource provides information about advocacy organizations and support networks for individuals and families affected by Spondylocarpotarsal Synostosis Syndrome. These organizations can offer additional information, resources, and support.
• PubMed Articles on Spondylocarpotarsal Synostosis Syndrome: Access a collection of research articles and studies on Spondylocarpotarsal Synostosis Syndrome from the PubMed database. These articles provide more detailed information about the condition, its causes, and potential treatment options.