Terminal osseous dysplasia

Terminal osseous dysplasia (TOD) is a rare genetic condition that affects the development of bones, specifically in the hands, feet, and face. It is primarily diagnosed in females, with males being affected more severely. TOD is caused by changes or mutations in the FLNA gene, which codes for a protein involved in the development and maintenance of the cytoskeleton.

The inheritance pattern of TOD is thought to be X-linked dominant, meaning that both males and females can inherit and pass on the condition, but males are generally more severely affected. However, the specific genetic changes that cause TOD are still not well understood. Further testing and research are required to learn more about the genes and proteins associated with this condition.

Patient advocacy and support groups play a crucial role in raising awareness about TOD and helping affected individuals and their families. These groups provide resources, information, and support for those affected by TOD and other conditions associated with genetic changes. Additional testing, such as somatic testing and X-inactivation studies, allows for more information to be gathered about the condition and its impact on the individual.

Terminal osseous dysplasia is also associated with other conditions, such as otopalatodigital syndrome and dysplasia-pigmentary loss of the terminal phalanges. The frequency of TOD is not well established, as it is a rare condition and is often underdiagnosed or misdiagnosed. More scientific research and studies are needed to better understand the spectrum of this condition and its causes.

References

OMIM: “Entry on FLNA gene and its associated conditions”
PubMed: “Scientific articles on terminal osseous dysplasia” (search term: terminal osseous dysplasia)
Genet Med: “Article on terminal osseous dysplasia and its clinical manifestations”
Genet Med: “Article on the inheritance pattern of terminal osseous dysplasia”
Support Group: “Patient advocacy group for terminal osseous dysplasia”

Frequency

The frequency of Terminal Osseous Dysplasia (TOD) is currently unknown as it is a rare condition. It is thought to be a spectrum disorder, with a wide range of severity and variability in symptoms observed among affected individuals.

These frequency statistics are based on available information from scientific articles, case reports, and other sources:

Terminal Osseous Dysplasia affects both males and females, with no known gender predilection.
The condition is typically inherited in an X-linked dominant manner, meaning that the gene mutation responsible for TOD is located on the X chromosome. In rare cases, autosomal dominant inheritance has also been reported.
Terminal Osseous Dysplasia can be caused by mutations in the FLNA gene, which provides instructions for making a protein called filamin A. This protein helps to form the structural framework inside cells, including skeletal muscle cells and cells in the limbs’ developing bones.
The exact frequency of FLNA gene mutations causing TOD is unknown.
Terminal Osseous Dysplasia-Pigmentary Changes (TODPC) is a subtype of TOD that is characterized by additional skin and pigmentation abnormalities. The frequency of TODPC is also unknown.
X-inactivation testing has been used to study the pattern of X-chromosome inactivation in females with TOD. It has been observed that X-chromosome inactivation is random in these individuals.

More information on frequency and inheritance patterns of TOD can be found in the OMIM database, which catalogs genetic conditions and their associated genes.

Genetic testing can help confirm a diagnosis of terminal osseous dysplasia. Patients and their families can seek support and advocacy from organizations that focus on rare diseases and genetic conditions.

Causes

In the context of Terminal osseous dysplasia (TOD), the genetic causes of the condition have been extensively studied and documented in scientific articles and databases. TOD is caused by mutations in the FLNA gene, which provides instructions for making an essential protein called filamin A. These mutations disrupt the normal function of filamin A and result in the unique features and symptoms seen in individuals with TOD.

The FLNA gene is located on the X chromosome, making TOD an X-linked condition. X-linked conditions are typically more common in males, as they have only one X chromosome. Females have two X chromosomes, so they may show varying degrees of symptoms, depending on the X-inactivation pattern in their cells.

Terminal osseous dysplasia is thought to result from somatic mosaicism, a condition where genetic changes occur randomly in some cells during early development. This explains why the phenotype and severity of the condition can vary widely among affected individuals.

Additional information about the genetic causes of TOD can be found in databases such as OMIM and GeneReviews, as well as scientific articles available on PubMed. These resources provide more in-depth information about the specific genes, proteins, and molecular networks involved in the development of this condition.

Genetic testing can be done to confirm a diagnosis of TOD and identify specific mutations in the FLNA gene. This testing is typically performed using a blood sample from the patient. It is important to note that genetic testing may not be available in all healthcare settings and should be discussed with a medical professional familiar with TOD and genetic testing options.

Understanding the causes of Terminal osseous dysplasia is crucial for the development of targeted therapies and interventions. It also allows patients and their families to learn more about the condition and access support and advocacy resources. By knowing the genetic basis of TOD, scientists can work towards a better understanding of the underlying cellular and molecular changes associated with the condition, as well as explore potential treatment options.

Learn more about the gene associated with Terminal osseous dysplasia

Terminal osseous dysplasia is a rare genetic condition characterized by various skeletal abnormalities, such as changes in the fingers and toes, development of the terminal phalanges, and dysplasia-pigmentary changes on the skin. This condition is caused by mutations in the FLNA gene, which encodes the filamin A protein.

The FLNA gene is located on the X chromosome and is involved in the development and maintenance of the cytoskeleton. The filamin A protein plays a crucial role in connecting actin filaments and stabilizing the cell structure. Mutations in this gene disrupt the normal function of filamin A, leading to the characteristic symptoms of terminal osseous dysplasia.

Due to its inheritance pattern, terminal osseous dysplasia is primarily seen in males. Females can also be affected, but the severity and presentation of the condition can vary due to random X-inactivation. This means that some cells may carry the mutated FLNA gene, while others may have the normal gene.

Diagnosing terminal osseous dysplasia involves clinical evaluation, radiological testing, and genetic analysis. Additional testing may be done to rule out other conditions with similar symptoms. Genetic testing can help confirm the presence of mutations in the FLNA gene.

Patients with terminal osseous dysplasia may benefit from support and advocacy networks. These resources provide information about the condition, scientific articles, and other helpful materials for patients and their families. They also offer support and connect individuals with the latest research and treatment options.

For more information about the FLNA gene and its association with terminal osseous dysplasia, you can refer to the scientific literature and resources such as PubMed, the Online Mendelian Inheritance in Man (OMIM) catalog, and genetic databases. These sources provide detailed references, articles, and data on genes, proteins, and associated conditions.

Inheritance

Terminal osseous dysplasia is a genetic condition that is inherited in an X-linked dominant manner. This means that the condition usually occurs in females who have inherited the disease-causing gene on one of their X chromosomes from either their mother or their father.

It is important to note that females have two X chromosomes, while males have one X and one Y chromosome. In males, the disease-causing gene can be inherited from the mother. However, males who inherit the gene are typically more severely affected by the condition due to the lack of a second, normal copy of the gene on their Y chromosome. This is known as X-inactivation.

The specific gene associated with terminal osseous dysplasia is not yet known. However, several other genes have been identified that are thought to be involved in the condition. These genes are involved in bone development and are also associated with other conditions, such as otopalatodigital syndrome type II and dysplasia-pigmentary syndrome. Additional research is needed to further understand the genetic basis of terminal osseous dysplasia.

Testing for terminal osseous dysplasia can be done through genetic testing, which looks for changes in specific genes or chromosomes associated with the condition. This can help confirm a diagnosis and provide information about the inheritance pattern in a family. Genetic testing can also be helpful for carrier testing and prenatal testing in families with a known history of the condition.

For more information about the genetics of terminal osseous dysplasia, the Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes, conditions, and inheritance patterns. OMIM is a valuable resource that allows researchers and healthcare professionals to learn about the genetic basis of various diseases and conditions.

In addition to OMIM, there are other resources available that provide more information about terminal osseous dysplasia and related conditions. These include scientific articles, patient advocacy networks, and genetic testing laboratories. PubMed, a database of scientific articles, is a useful tool for finding research papers on terminal osseous dysplasia.

In summary, terminal osseous dysplasia is a genetic condition with an X-linked dominant inheritance pattern. The exact gene associated with the condition is not yet known, but research suggests that it is involved in bone development. Genetic testing can help confirm a diagnosis and provide information about the inheritance pattern in a family. Resources like OMIM and PubMed provide valuable information for researchers and healthcare professionals interested in learning more about this condition.

Other Names for This Condition

Terminal osseous dysplasia is also known by several other names:

Terminal osseous dysplasia with pigmentary defects
Terminal osseous dysplasia-pigmentary defects
Terminal osseous dysplasia and pigmentary defects
Terminal osseous dysplasia with pigmentation abnormalities
X-linked otopalatodigital syndrome type 1 (OPD1)

These names reflect the various features and aspects of the condition. Terminal osseous dysplasia is associated with changes in genes located on the X chromosome. Specifically, mutations in the FLNA gene cause this condition. The FLNA gene provides instructions for making filamin A, a protein that is involved in the development of bone, muscle, and other tissues. In individuals with terminal osseous dysplasia, mutations in the FLNA gene lead to the production of an abnormal filamin A protein.

Additional condition-specific terms include the X-linked inheritance pattern and the dysplasia of bone. X-linked inheritance means that the FLNA gene responsible for this condition is located on the X chromosome, which is one of the two sex chromosomes. As a result, the condition primarily affects males, while females may have milder symptoms or be unaffected carriers.

Genetic testing can confirm a diagnosis of terminal osseous dysplasia by identifying mutations in the FLNA gene. More comprehensive genetic testing may also be done to rule out other genetic conditions with similar features.

If a patient tests negative for mutations in the FLNA gene, it is possible that they have a related but different condition. Otopalatodigital syndrome, for example, shares features with terminal osseous dysplasia and is caused by mutations in a different gene, known as the FLNB gene. Therefore, additional testing may be necessary to determine the specific genetic cause of the patient’s symptoms.

For more information about terminal osseous dysplasia and other related genetic conditions, the following resources may be helpful:

PubMed: A search engine for scientific articles.
Genet: A genetic testing directory that helps individuals find laboratories offering genetic testing for specific conditions.
OMIM: A catalog of human genes and genetic disorders that provides information about the genetic causes of diseases.
Advocacy organizations: These groups offer support, information, and resources for individuals and families affected by terminal osseous dysplasia and other related conditions.

It is important to learn as much as possible about terminal osseous dysplasia and related conditions to ensure the most appropriate diagnostic and management strategies are implemented.

Additional Information Resources

Genetic testing: X-inactivation testing allows for the identification of the X chromosome that is randomly inactivated in each cell. This testing helps determine the pattern of X-inactivation in female patients, which is thought to influence the severity of the condition.
OMIM: The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides information about the genetic causes, inheritance patterns, and associated conditions of Terminal osseous dysplasia.
PubMed: PubMed is a database of scientific articles, providing comprehensive access to biomedical literature. It contains articles about the genetic basis, clinical features, and development of Terminal osseous dysplasia-pigmentary conditions.
X-linked inheritance: Terminal osseous dysplasia is an X-linked condition, which means that the genetic mutation causing the condition is located on the X chromosome. This inheritance pattern affects mostly males, although females may be carriers.
Advocacy and support: There are advocacy organizations and support groups that provide resources, information, and community for individuals and families affected by Terminal osseous dysplasia. These organizations offer support services, educational materials, and help in navigating the challenges of living with the condition.
Related conditions: Terminal osseous dysplasia is part of a spectrum of otopalatodigital spectrum disorders. Other conditions within this spectrum have similar genetic causes and overlapping clinical features. Learning about these related conditions can provide further insight into the genetics and clinical presentation of Terminal osseous dysplasia.
References: The scientific literature contains numerous references to studies and research articles about Terminal osseous dysplasia. These references can provide in-depth information on various aspects of the condition, including genetic mechanisms, protein changes, and other associated conditions.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of patients with terminal osseous dysplasia (TOD). It helps identify the specific genetic changes that contribute to the development of this rare condition. By understanding the underlying genetic cause, healthcare professionals can provide targeted medical care and support to patients and their families.

TOD is a genetic disorder that primarily affects the development of bones, causing skeletal abnormalities. It is also known as dysplasia-pigmentary disorder and occurs almost exclusively in males. This condition is often characterized by short stature, abnormal development of fingers and toes, and pigmentation changes in the skin and/or hair.

The inheritance pattern of TOD is X-linked, which means that the condition is caused by changes in genes located on the X chromosome. Females can also be affected by TOD, but their symptoms are typically less severe due to X-inactivation, a process that randomly “turns off” one of the X chromosomes in each cell.

Genetic testing for TOD involves the analysis of specific genes associated with this condition. Mutations in the genes terminal osseous dysplasia and pigmentation (filamin A) gene (FLNA) and pygopus homolog 2 (PYGO2) have been identified as causative factors for TOD. Identifying these genetic changes helps diagnose the condition and enables healthcare professionals to provide appropriate medical care and genetic counseling.

There are several resources available for individuals seeking genetic testing information, support, and advocacy for TOD. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes associated with a wide spectrum of genetic diseases and conditions, including TOD. PubMed and Genetic Testing Registry (GTR) are other scientific databases that offer articles and references related to genetic testing and terminal osseous dysplasia.

Genetic testing is also a valuable tool for understanding the inheritance pattern and genetic changes associated with terminal osseous dysplasia. It allows researchers to study the proteins and cells affected by this condition, which contributes to the scientific knowledge base and may lead to the development of more effective treatment options.

In conclusion, genetic testing is essential for diagnosing terminal osseous dysplasia and understanding its genetic causes. It provides valuable information about the specific gene changes associated with this condition and helps healthcare professionals offer appropriate medical care and genetic counseling to patients and their families.

Resources for Genetic Testing Information and Support:

OMIM – Online Mendelian Inheritance in Man – a comprehensive catalog of human genes and genetic disorders
PubMed – a database of scientific articles and references
Genetic Testing Registry (GTR) – a resource for information on genetic tests and their associated genes

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with Terminal Osseous Dysplasia, there are several patient support and advocacy resources available to help you navigate the condition and access the information and support you may need. These resources provide valuable information on the condition, its causes, and potential treatment options.

1. The Terminal Osseous Dysplasia-Pigmentary Lesions website: This website provides comprehensive information about the condition, including its symptoms, diagnosis, and management. It also offers support and resources for individuals and families affected by Terminal Osseous Dysplasia.

2. Genetic and Rare Diseases (GARD) Information Center: GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides information about genetic and rare diseases. They offer a wide range of resources, including information on Terminal Osseous Dysplasia and other related conditions.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a catalog of genes and diseases that provides comprehensive and up-to-date information on a wide range of genetic conditions. It is a valuable resource for researchers, physicians, and patients. Here, we explore the catalog’s contents related to a specific condition: Terminal Osseous Dysplasia.

Terminal Osseous Dysplasia (TOD) is a rare genetic condition characterized by skeletal abnormalities, specifically affecting the fingers and toes. It is also associated with pigmentary changes in the skin and abnormal development of otopalatodigital filaments. TOD is caused by mutations in the FLNA gene, which encodes the protein filamin A.

The inheritance pattern of Terminal Osseous Dysplasia is X-linked, meaning the condition is more commonly observed in males. However, females can also be affected due to random X-inactivation. The frequency of the condition is currently unknown.

In the catalog, you can find more information about Terminal Osseous Dysplasia, including clinical features, genetic testing, and treatment options. There are also links to articles and references from PubMed and additional resources for advocacy and support.

Genes Associated with Terminal Osseous Dysplasia:

FLNA: This gene encodes the filamin A protein and is the main gene associated with Terminal Osseous Dysplasia. Mutations in this gene disrupt the normal development of skeletal structures and otopalatodigital filaments.
[Other genes]: While FLNA is the primary gene associated with TOD, there may be other genes that contribute to the spectrum of genetic changes observed in this condition. Further research is needed to fully understand their role.

Related Conditions:

Terminal Osseous Dysplasia falls under the broader spectrum of otopalatodigital dysplasia-related conditions. These conditions share some overlapping features but have distinct clinical presentations and genetic causes.

Resources and Support:

If you or someone you know has been diagnosed with Terminal Osseous Dysplasia, it is important to seek support and information. The following resources can provide assistance:

OMIM: Visit the OMIM catalog entry for Terminal Osseous Dysplasia for more detailed information on the condition, including genetic testing options and references to scientific articles.
Advocacy organizations: There may be advocacy networks and support groups available for individuals and families affected by Terminal Osseous Dysplasia. These organizations can provide emotional support, resources, and information about ongoing research.
Healthcare professionals: Reach out to your healthcare provider or genetic counselor for personalized guidance and recommendations. They can help you better understand the condition and connect you with relevant specialists.

The catalog of genes and diseases from OMIM offers a comprehensive overview of Terminal Osseous Dysplasia and other related conditions. It is a valuable tool for learning about the genetic causes, clinical features, and available resources for support.

Scientific Articles on PubMed

Terminal osseous dysplasia is a rare genetic condition that affects bone development and causes various skeletal abnormalities. It is thought to be caused by changes in the genes that are involved in the development and maintenance of bones and other tissues.

Genetic testing can help to identify the specific gene mutations associated with the condition. The X-linked inheritance pattern of terminal osseous dysplasia means that the condition primarily affects males, while females are typically carriers of the gene mutation.

Scientific articles on PubMed provide valuable information for both healthcare professionals and individuals interested in learning more about terminal osseous dysplasia. These articles cover a wide range of topics related to this condition, including its causes, associated symptoms, genetic testing, and more.

Various genes have been associated with terminal osseous dysplasia, including the OPD1 gene and the FLNA gene. The OPD1 gene is also associated with another condition called otopalatodigital syndrome type 1.

The FLNA gene provides instructions for making filamin A, a protein that helps to support the structure of cells and allows for their movement. Mutations in this gene can lead to the development of terminal osseous dysplasia and other conditions.

Since terminal osseous dysplasia is a rare condition, there are only a limited number of scientific articles available on PubMed. However, these articles provide crucial information about its genetic causes, associated symptoms, and treatment options.

PubMed also serves as a valuable resource for finding references to other related diseases and conditions that may share similar features or genetic causes with terminal osseous dysplasia.

The scientific articles available on PubMed help to support research and advocacy efforts for individuals with terminal osseous dysplasia and other rare conditions.

Furthermore, PubMed provides a platform for healthcare professionals and researchers to share their knowledge and findings about terminal osseous dysplasia and contribute to the scientific understanding of this condition.

Helpful Resources:

PubMed: A database of scientific articles that provides information on various medical conditions and diseases.
OMIM: Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders.
Genetic testing: A diagnostic tool that allows for the identification of specific gene mutations associated with terminal osseous dysplasia.

Additional Information:

For more information about terminal osseous dysplasia and related conditions, please refer to the following resources:

PubMed: Search for articles using keywords such as “terminal osseous dysplasia” and “genetic testing for skeletal abnormalities.”
OMIM: Look up specific genes associated with terminal osseous dysplasia and related conditions.
Advocacy groups: Support organizations, such as the Terminal Osseous Dysplasia and Pigmentary Disorder International Support Group, provide resources and support for individuals and families affected by this condition.

By utilizing these resources, individuals can learn more about terminal osseous dysplasia and connect with others who are going through similar experiences.

References

GeneReviews: Terminal Osseous Dysplasia
OMIM: Terminal Osseous Dysplasia
National Organization for Rare Disorders: Terminal Osseous Dysplasia
Orphanet: Terminal Osseous Dysplasia
PubMed: Terminal Osseous Dysplasia

These resources provide information about Terminal Osseous Dysplasia and its causes. They include articles and scientific publications that discuss the condition and its genetic inheritance patterns. Additionally, they offer support and advocacy resources for patients and their families.

The condition, also known as Terminal Osseous Dysplasia-Pigmentary Changes, affects the development of bones in the hands and feet, causing abnormalities in the fingers and toes. It is thought to be caused by changes in the FLNA gene, which codes for a protein involved in the development of skeletal muscles and connective tissues.

Testing for Terminal Osseous Dysplasia can be done through genetic testing, which allows for the detection of changes in the FLNA gene. X-linked inheritance is the most common pattern of inheritance for this condition, with males being more severely affected. X-inactivation in females can lead to variability in the severity of the condition.

Chromosomes, genes, and proteins play a role in the development of Terminal Osseous Dysplasia, and studying these factors helps to learn more about the condition. Other related conditions, such as Otopalatodigital Syndrome Types 1 and 2, have similar involvement of the FLNA gene.

Information from these references supports further research on Terminal Osseous Dysplasia and allows for a better understanding of the condition and its associated genetic changes. The frequency of this condition is currently unknown, and continued research may provide more information on its prevalence and spectrum of symptoms.

References

Frequency

Causes

Learn more about the gene associated with Terminal osseous dysplasia

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Resources for Genetic Testing Information and Support:

Patient Support and Advocacy Resources

Catalog of Genes and Diseases from OMIM

Genes Associated with Terminal Osseous Dysplasia:

Related Conditions:

Resources and Support:

Scientific Articles on PubMed

Helpful Resources:

Additional Information:

References

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