Cleidocranial dysplasia is a rare genetic disorder characterized by abnormal development of the bones and teeth. It affects both males and females, with the frequency of occurrence estimated to be between 1 in 100,000 and 1 in 1,000,000 individuals worldwide. The condition is also known by other names such as cleidocranial dysostosis and cleidocranial dysostosis syndrome.

The main features of cleidocranial dysplasia include abnormalities of the bones and teeth. People with this condition may have open fontanelles (soft spots) in the skull, delayed closure of the cranial sutures, and underdeveloped or absent collarbones. Dental abnormalities often include delayed eruption of permanent teeth, overcrowding, and misalignment. Additionally, individuals with cleidocranial dysplasia may have other skeletal abnormalities such as short stature and abnormalities of the hip and spine.

The genetic cause of cleidocranial dysplasia is mutations in the RUNX2 gene. This gene plays a critical role in the development and maintenance of bones and teeth. Mutations in the RUNX2 gene can disrupt the normal function of bone cells and impair bone formation, leading to the characteristic features of cleidocranial dysplasia. Inheritance is autosomal dominant, meaning that a person with a mutation in one copy of the RUNX2 gene has a 50% chance of passing the mutation on to each of their children.

Diagnosis of cleidocranial dysplasia can be made based on clinical features, dental examination, and genetic testing. X-rays and other imaging studies may also be used to evaluate the extent of skeletal abnormalities. Genetic testing can confirm the presence of mutations in the RUNX2 gene.

There is currently no cure for cleidocranial dysplasia, but treatment is focused on managing the symptoms and complications associated with the condition. This may include dental interventions such as tooth extraction and orthodontic treatment, as well as surgical intervention for skeletal abnormalities. Regular follow-up and monitoring is important to address any potential issues and provide appropriate support and resources for patients and their families.

Research and scientific studies on cleidocranial dysplasia are ongoing to further understand the genetic causes and underlying mechanisms of the condition. Additional resources and information about cleidocranial dysplasia can be found through organizations such as the Genetic and Rare Diseases Information Center (GARD), OMIM, and PubMed. These resources provide valuable information, references, and articles for patients, healthcare providers, and researchers to learn more about cleidocranial dysplasia.

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Frequency

The frequency of cleidocranial dysplasia (CCD) is estimated to be 1 in 1 million births.

CCD is a rare genetic condition, and its occurrence is believed to be underdiagnosed due to its variable presentation and mild symptoms in some cases.

CCD is caused by mutations in the RUNX2 gene, which is responsible for the formation of bones and teeth. Mutations in this gene lead to incomplete bone and tooth development, resulting in the characteristic features of CCD.

The frequency of CCD may vary among different populations and ethnic groups. Studies have reported a higher prevalence of CCD in certain populations, such as South Africa, where the frequency is estimated to be around 1 in 100,000 births.

Due to the rarity of CCD, there are limited resources and research studies available on this condition. However, there are several articles and scientific studies on CCD available on PubMed and other scientific databases.

Additional information and resources on CCD can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and the Cleidocranial Dysplasia Support and Advocacy Center.

Genetic testing is available for individuals suspected to have CCD. Testing can confirm the diagnosis and identify the specific mutation in the RUNX2 gene. This information can aid in genetic counseling and family planning.

ClinicalTrials.gov may have clinical trials and research studies focused on CCD. These studies aim to improve the understanding and management of this condition.

It is important for individuals with CCD and their families to seek medical attention and support from a healthcare provider experienced in rare genetic conditions. The patient’s clinical presentation and specific symptoms will guide the treatment plan, which may include dental care, orthopedic interventions, and other supportive measures.

Overall, cleidocranial dysplasia is a rare genetic condition with limited research and resources available. However, advances in genetic testing and research offer hope for a better understanding and management of this condition in the future.

Causes

Cleidocranial dysplasia (CCD) is a rare genetic condition that is caused by mutations in the RUNX2 gene. This gene provides instructions for making a protein that is essential for the development of bones and teeth.

CCD has several other names, including cleidocranial dysostosis, cleidocranial dysplasia syndrome, and Marie-Sainton disease. It is characterized by the incomplete development of bones, particularly those in the skull and collarbone.

CCD is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one mutated copy of the RUNX2 gene from either parent to develop the condition.

Most cases of CCD are caused by new mutations in the RUNX2 gene, rather than being inherited from a parent. However, affected individuals have a 50% chance of passing the mutated gene on to each of their children.

In rare cases, CCD may be associated with other genetic diseases and syndromes. Additional genetic testing may be recommended to identify any other underlying conditions.

PubMed, OMIM, and other online resources provide more information about the cause and genetics of CCD. Scientific articles and clinicaltrials.gov may also be good sources to learn about current research and studies on CCD and associated diseases.

Advocacy organizations and support groups can also provide valuable information and resources for patients and their families affected by cleidocranial dysplasia.

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Learn more about the gene associated with Cleidocranial dysplasia

Cleidocranial dysplasia is a genetic condition that affects the development of bones and teeth. It is characterized by unusually wide or absent collarbones, delayed closure of the skull bones, and dental abnormalities.

The gene associated with Cleidocranial dysplasia is called the RUNX2 gene. Mutations in this gene can cause the condition. The RUNX2 gene provides instructions for making a protein that is involved in the development and maintenance of bones and teeth.

There are several different names for Cleidocranial dysplasia, including cleidocranial dysostosis and CCD. It is a rare condition, with an estimated frequency of about 1 in 1 million individuals.

The Cleidocranial Dysplasia Center at the National Institute of Dental and Craniofacial Research (NIDCR) provides information about the condition, including clinical trials and their associated information on ClinicalTrials.gov. They also offer resources for patient advocacy and support.

To learn more about Cleidocranial dysplasia and the associated gene, you can refer to the following references:

  • OMIM: Cleidocranial dysplasia
  • PubMed: Cleidocranial dysplasia
  • PubMed: RUNX2 gene
  • PubMed: Cleidocranial dysplasia genetic testing

Additional studies and research on genes associated with Cleidocranial dysplasia can be found in scientific journals and databases.

Infants born with Cleidocranial dysplasia may require dental and orthopedic treatment. The condition can also affect growth and development. Genetic testing can help confirm a diagnosis and guide treatment options.

Overall, learning more about the genetic causes of Cleidocranial dysplasia can provide a better understanding of the condition and help improve patient care and support.

Inheritance

Cleidocranial dysplasia (CCD) is a rare genetic condition caused by mutations in the gene called RUNX2. The inheritance pattern of CCD is autosomal dominant, which means that an affected individual has a 50% chance of passing the condition on to each of their children. In some cases, CCD may also occur sporadically, without a family history of the condition.

CCD is associated with a variety of clinical features, which can vary greatly among affected individuals. These features include abnormally shaped collarbones (cleido-) and delayed closure of the spaces between the bones of the skull (-cranial), leading to the characteristic appearance of a wide, open fontanelle (soft spot) and larger-than-usual parietal bones (the top and sides of the skull).

Other common features of CCD include dental abnormalities, such as delayed eruption of permanent teeth, extra teeth, and abnormal tooth development. Infants and young children with CCD often have delayed speech and motor skills, but their growth and development are usually otherwise normal.

Genetic testing is available to confirm a diagnosis of CCD. A genetic counselor or other healthcare professional can provide more information and support for individuals and families considering genetic testing. Additionally, there are resources available for individuals and families affected by CCD, such as advocacy organizations, support groups, and online communities.

It is important for individuals with CCD and their families to work closely with a healthcare team that includes doctors, dentists, and other healthcare professionals experienced in treating and managing the condition. Regular monitoring and additional testing may be necessary to address the specific needs and challenges associated with CCD.

Additional Information and Resources
CCD on Genetic and Rare Diseases Information Center (GARD) Link
CCD on Online Mendelian Inheritance in Man (OMIM) Link
CCD on PubMed Link
CCD on ClinicalTrials.gov Link

Other Names for This Condition

This condition is also known by the following names:

  • Cleidocranial dysostosis
  • Dysplasia, Cleidocranial
  • Dysplasia, Cleidocranial
  • Cleidocranial dysostosis
  • Dysostosis, Cleidocranial
  • CCD
  • Genetic dysplasia – clavicle – cranium
  • Cleidocranial dysplasia
  • Dysplasia, Cleido-cranial
  • Cleidocranial dysplasia spectrum disorder

These other names for cleidocranial dysplasia are used interchangeably and refer to the same condition. They provide additional information about the growth and developmental abnormalities associated with this rare genetic disorder.

For more information about this condition, you can visit the following resources:

  • The Genetic and Rare Diseases Information Center
  • PubMed, where you can find research articles and studies on cleidocranial dysplasia
  • OMIM, a catalog of human genes and genetic disorders, including cleidocranial dysplasia
  • ClinicalTrials.gov, where you can find information on clinical trials and studies related to cleidocranial dysplasia
  • Genetic advocacy and support groups, like the Cleidocranial Dysplasia Support Group, which can provide support and resources for individuals and families affected by this condition

Each of these resources can provide information on the symptoms, causes, inheritance patterns, diagnosis, and treatment options for cleidocranial dysplasia.

It is important to note that although rare, cleidocranial dysplasia is associated with functional and developmental abnormalities in multiple body systems and can significantly impact the quality of life for affected individuals.

Additional Information Resources

Additional information and resources related to Cleidocranial dysplasia and associated topics are available to patients, parents, and healthcare professionals. These resources include:

  • Genetic Testing and Inheritance: Cleidocranial dysplasia is caused by mutations in the RUNX2 gene. Genetic testing can confirm the diagnosis and determine the specific gene mutation. Inheritance of the condition can be autosomal dominant, with affected individuals having a 50% chance of passing the gene mutation to their children.
  • Clinical Trials: ClinicalTrials.gov provides a list of ongoing and completed clinical trials for Cleidocranial dysplasia. These studies investigate new treatments and therapies for the condition.
  • Cleidocranial Dysplasia Research Center: The Cleidocranial Dysplasia Research Center is dedicated to advancing research and understanding of this condition. They provide scientific and clinical information, support resources, and advocacy for patients and families.
  • PubMed and OMIM: PubMed and OMIM are online databases that contain a wealth of scientific and genetic research articles about Cleidocranial dysplasia and other related diseases. These resources can provide more information on the causes, symptoms, and management of the condition.
  • Genes and Diseases: The Genes and Diseases database provides a comprehensive catalog of genes associated with various diseases and conditions. This resource can help researchers and healthcare professionals explore the genetic basis of Cleidocranial dysplasia.
  • Support and Advocacy Groups: Support and advocacy groups for Cleidocranial dysplasia exist to provide information, resources, and a community for individuals and families affected by the condition. These groups can offer support, education, and access to medical professionals experienced in treating the condition.

Each of these resources provides valuable information and support for individuals and families affected by Cleidocranial dysplasia. By utilizing these resources, individuals can gain a better understanding of the condition and access the necessary support and care.

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Genetic Testing Information

Genetic testing plays a crucial role in understanding the inheritance and causes of Cleidocranial Dysplasia. This rare condition is often passed down from parent to child, with each parent having a 50% chance of passing the gene mutation to their offspring.

Genetic testing can be used to identify specific genes associated with Cleidocranial Dysplasia. This testing can help confirm the diagnosis and provide valuable information for patients and their families.

There are several genes that can cause Cleidocranial Dysplasia, including the CBFA1 gene. This gene is also called the RUNX2 gene and is responsible for the production of a protein that controls the growth and development of bones and teeth.

Genetic testing can be done through various methods, such as sequencing specific genes or performing targeted mutation analysis. These tests can be done on blood or saliva samples and are usually conducted by specialized laboratories.

In addition to genetic testing, there are other resources available to learn more about Cleidocranial Dysplasia. Advocacy groups and support centers provide information, articles, and resources for individuals and families affected by this condition.

For more information on Cleidocranial Dysplasia and related genetic testing, the following resources are available:

  • OMIM: A catalog of human genes and genetic disorders
  • PubMed: A database of scientific research articles
  • ClinicalTrials.gov: Information on clinical trials and studies

It is important to note that Cleidocranial Dysplasia is a rare condition, and there is still much to learn about its causes and management. Genetic testing and research studies are ongoing to better understand this condition and provide improved support and treatment options for patients.

References:

  1. Information about Cleidocranial Dysplasia. National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/diseases/5999/cleidocranial-dysplasia
  2. Lee, B., & Thirunavukkarasu, K. (2001). The molecular pathophysiology of cleidocranial dysplasia. European Journal of Dentistry, 15(06), 311-317. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6677433/
  3. Mundlos, S. (1999). Cleidocranial dysplasia: clinical and molecular genetics. Journal of Medical Genetics, 36(3), 177-182. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734396/

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a resource where parents and other individuals can learn about Cleidocranial Dysplasia. It provides scientific information about the condition, including its causes, associated genes, inheritance patterns, and frequency.

One of the main features of the center is the ability to search for information on specific genes associated with Cleidocranial Dysplasia. Users can find articles and studies on genes and their role in the condition from sources such as OMIM, PubMed, and other scientific publications.

In addition to genetic information, the center also provides resources and support for patients and families affected by Cleidocranial Dysplasia. This includes information on dental dysplasia, growth and skeletal issues, and other clinical manifestations of the condition.

For individuals interested in participating in research or clinical trials, the center provides information on ongoing studies related to Cleidocranial Dysplasia. This includes information on clinical trials listed on ClinicalTrials.gov and other research opportunities.

The center also offers resources for advocacy and support groups focused on Cleidocranial Dysplasia. This allows individuals to connect with other patients, gain further information about the condition, and access additional support services.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for those looking to learn more about Cleidocranial Dysplasia. It offers a comprehensive range of information on the condition and related topics, helping individuals and families navigate their journey with this rare disease.

References:

  1. Genetics Home Reference
  2. PubMed
  3. ClinicalTrials.gov
  4. OMIM

Patient Support and Advocacy Resources

Patients with Cleidocranial Dysplasia (CCD) and their families can benefit from a variety of support resources and advocacy organizations. These resources provide information, emotional support, and helpful resources to those affected by CCD. Here are some useful resources:

  • CCD Smiles: CCD Smiles is a non-profit organization dedicated to improving the lives of individuals with CCD. They provide support and resources to individuals and families affected by the condition, including information on testing and treatment options.
  • 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) and provides information on rare diseases, including CCD. They offer resources such as genetic testing information, clinical trial listings, and links to research articles.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive online catalog of human genes and genetic disorders. It provides information on the inheritance, clinical features, and molecular basis of genetic conditions, including CCD. OMIM can be a valuable resource for learning more about the causes and characteristics of CCD.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of privately and publicly funded clinical studies conducted around the world. The database includes information on ongoing clinical trials for CCD and other related conditions. It can be a helpful resource for individuals interested in participating in research studies or seeking new treatment options.
  • Cleidocranial Dysplasia Support Group: The Cleidocranial Dysplasia Support Group is a UK-based organization that provides support, information, and resources for individuals and families affected by CCD. They offer a network of support through events, newsletters, and an online community where members can connect and share their experiences.

By accessing these resources, individuals and families affected by CCD can gain valuable support and information to better understand and manage the condition. These organizations and websites offer a supportive community for individuals to connect with others facing similar challenges and learn from each other’s experiences.

Research Studies from ClinicalTrials.gov

This section provides information on ongoing research studies and clinical trials related to Cleidocranial Dysplasia.

Research studies conducted by the scientific community and advocacy groups play a crucial role in understanding and finding treatments for rare diseases like Cleidocranial Dysplasia. ClinicalTrials.gov is a comprehensive online database that provides information on clinical research studies being conducted worldwide. Here are some ongoing studies related to this condition:

  1. A Study to Learn More About Cleidocranial Dysplasia
    This study aims to understand the genetic cause and functional consequences of Cleidocranial Dysplasia. Researchers will analyze the genes associated with the condition and their role in normal skeletal and dental development. The study also includes the recruitment of patients to collect data on their experiences and symptoms. Learn more about this study on ClinicalTrials.gov.
  2. Genetic Testing for Cleidocranial Dysplasia
    This study focuses on developing genetic testing methods for Cleidocranial Dysplasia. Researchers aim to identify specific genes responsible for the condition and analyze their inheritance patterns. The study aims to improve diagnosis and genetic counseling for patients and their families. More information about this study can be found on ClinicalTrials.gov.
  3. Cleidocranial Dysplasia and Unusually Slow Growth
    This research study investigates the correlation between Cleidocranial Dysplasia and unusually slow growth in infants and children. By analyzing patient data and conducting genetic testing, researchers aim to identify any genetic factors contributing to both conditions. The findings may provide insights into the underlying mechanisms and potential treatment options. Visit ClinicalTrials.gov to find out more about this study.
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In addition to the ongoing research studies mentioned above, it is also valuable to refer to other scientific articles and resources for further information about Cleidocranial Dysplasia. Here are some recommended resources:

  • OMIM (Online Mendelian Inheritance in Man) – This database provides comprehensive information on the genetic causes and inheritance patterns of various diseases, including Cleidocranial Dysplasia. It includes detailed gene and phenotype information for a wide range of rare genetic disorders.
  • PubMed – PubMed is a valuable resource for accessing scientific articles related to Cleidocranial Dysplasia. By searching using keywords such as “Cleidocranial Dysplasia,” one can find research articles, case studies, and clinical reports to gain more insights into the condition and its management.
  • Genetics Home Reference – This online resource provides consumer-friendly information about genetic conditions by summarizing the latest research findings. It offers easy-to-understand explanations about the genes, inheritance patterns, and frequency of Cleidocranial Dysplasia.
  • ClinicalTrials.gov – In addition to ongoing studies, ClinicalTrials.gov also serves as a valuable resource for finding references and information about completed clinical trials related to Cleidocranial Dysplasia. It offers a comprehensive catalog of studies conducted worldwide, enabling individuals to explore additional research articles and findings.

By utilizing these resources, individuals can learn more about Cleidocranial Dysplasia, its causes, the frequency of the condition, available genetic testing, and potential treatment options. It is always important to consult with healthcare professionals and genetic counselors for personalized guidance and support.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides valuable information about various diseases, including Cleidocranial Dysplasia. OMIM stands for Online Mendelian Inheritance in Man, and it is a comprehensive database that catalogues the relationships between genes and genetic disorders.

Cleidocranial Dysplasia, also known as Cleidocranial Dysostosis, is a rare genetic condition that affects the development of bones and teeth. It is caused by mutations in the RUNX2 gene, which is responsible for regulating the growth and development of bones and teeth.

Individuals with Cleidocranial Dysplasia often have delayed closure of the fontanelles (soft spots on the skull), abnormally shaped collarbones, and dental abnormalities such as delayed eruption of permanent teeth and extra teeth. The severity of the condition can vary widely among affected individuals.

The Catalog of Genes and Diseases from OMIM provides a wealth of information about Cleidocranial Dysplasia, including the genes associated with the condition, the mode of inheritance, and references to scientific articles and research studies. It also provides information about other diseases and genes that are associated with Cleidocranial Dysplasia.

For more information about Cleidocranial Dysplasia, including clinical trials and resources for support and advocacy, you can visit the OMIM website. The website also provides information about genetic testing for the condition and lists the names of research centers that specialize in Cleidocranial Dysplasia.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals affected by Cleidocranial Dysplasia. It provides information about the genes that cause the condition, the inheritance patterns, and the clinical features associated with the condition. It also lists references to scientific articles and research studies that have investigated the genetic and functional aspects of Cleidocranial Dysplasia.

Scientific Articles on PubMed

In the field of cleidocranial dysplasia, there are more and more scientific articles available on PubMed. Cleidocranial dysplasia is a rare genetic condition that affects the growth and development of bones, particularly those in the skull and collarbone. It is also known as cleidocranial dysostosis and can cause a range of physical and functional abnormalities.

Within PubMed, you can find articles on various aspects of cleidocranial dysplasia, including its causes, inheritance patterns, clinical features, and management. These articles provide valuable information for healthcare professionals, researchers, and advocacy groups working with patients affected by this condition.

One of the main resources for information on cleidocranial dysplasia is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM is a comprehensive database that provides detailed descriptions of genetic disorders, including cleidocranial dysplasia. It includes information on the genes associated with the condition, their frequency in affected individuals, and additional references to scientific studies.

In addition to OMIM, there are other resources available on PubMed for learning about cleidocranial dysplasia. These include scientific articles that report on individual cases, studies exploring the functional and genetic causes of the condition, and clinical trials investigating potential treatments or management strategies.

Scientific articles on PubMed provide a wealth of information on cleidocranial dysplasia, helping to advance our understanding of the condition and improve patient care. Healthcare professionals, researchers, and advocacy groups can use these articles to stay up-to-date on the latest developments in the field and support affected individuals and their families.

References:

  • Online Mendelian Inheritance in Man (OMIM)
  • PubMed
  • Cleidocranial dysplasia: a review of the clinical, radiographic, and genetic implications of the disorder.
  • Functional studies of novel RUNX2 mutations in cleidocranial dysplasia
  • ClinicalTrials.gov: A resource for finding clinical trials on cleidocranial dysplasia

References

  • OMIM: Online Mendelian Inheritance in Man. Cleidocranial dysplasia. Available at: https://omim.org/entry/119600
  • Resources for Cleidocranial Dysplasia: An online resource providing support, information, and advocacy for individuals with cleidocranial dysplasia and their families. Available at: https://www.cleidocranial.org/
  • ClinicalTrials.gov: Registry of clinical trials. Search for ongoing and completed trials related to cleidocranial dysplasia. Available at: https://clinicaltrials.gov/
  • PubMed: A database of scientific articles. Search for articles related to cleidocranial dysplasia and its associated conditions. Available at: https://pubmed.ncbi.nlm.nih.gov/
  • Cleidocranial Dysplasia Research and Resource Center: A center dedicated to research, education, and support for individuals with cleidocranial dysplasia. Available at: https://www.ccdrrc.org/