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Cranioectodermal dysplasia is a rare genetic condition that affects the development and function of multiple tissues and organs in the body. It is also known as IFT-A cranioectodermal dysplasia, referring to the gene associated with the condition. The signs and symptoms of cranioectodermal dysplasia can vary widely from patient to patient, with some individuals experiencing more severe manifestations than others.

This condition is caused by mutations in the IFT-A genes, which are involved in the transport of proteins within cells. These mutations disrupt the normal function of the IFT-A complex, leading to the development of cranioectodermal dysplasia. The exact mechanism by which these mutations lead to the signs and symptoms of the condition is not fully understood, but ongoing research is providing more information on the underlying processes.

Cranioectodermal dysplasia is associated with a variety of clinical features, including craniofacial abnormalities, skeletal abnormalities, intellectual disability, and hair and skin abnormalities. The frequency of the condition is not well established, but it is considered to be rare. It is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for a child to be affected. Genetic testing can be done to confirm a diagnosis of cranioectodermal dysplasia.

There are currently no specific treatments for cranioectodermal dysplasia, and management is focused on addressing the individual symptoms and improving quality of life. Supportive care, including physical, speech, and occupational therapy, is often recommended. Research studies and clinical trials are ongoing to learn more about the disease and to explore potential treatment options. Patients and their families can find support and information from advocacy organizations and online resources, such as OMIM, PubMed, and ClinicalTrials.gov.

Frequency

The frequency of cranioectodermal dysplasia is not well established, as it is a rare genetic condition. The condition is associated with mutations in the IFT-A complex genes, including WDR34, WDR60, and IFT140. These genes play a crucial role in the function and transport of proteins within cells. Mutations in these genes can disrupt normal development and can lead to the signs and symptoms of cranioectodermal dysplasia.

Due to the rarity of the condition, there is limited research and information available about its frequency. However, according to the Center for Human Genetics and Genomics at NYU Langone Health, cranioectodermal dysplasia has been reported in less than 30 patients worldwide. These cases have been documented in scientific articles and referenced in publications like OMIM (Online Mendelian Inheritance in Man) and PubMed.

Part of the reason for these long wait times and short appointments is due to a nationwide shortage of physicians that is only getting worse. A report by the Association of American Medical Colleges predicts that, due to population growth and specifically growth of the elderly population, the physician shortfall in the U.S. could reach 121,300 by the year 2030.

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

It is important for patients and their families to seek genetic testing and counseling to learn more about the condition and its genetic inheritance. Advocacy groups and support centers for rare diseases can also provide additional information and support for individuals affected by cranioectodermal dysplasia.

Further research and studies are needed to better understand the causes, signs, and function of this rare condition. With more information, healthcare professionals can develop better strategies for diagnosis, treatment, and support for individuals with cranioectodermal dysplasia.

Causes

The causes of cranioectodermal dysplasia are not fully understood. However, research and clinical studies have provided some information about the condition’s development.

Genetic inheritance is believed to play a role in cranioectodermal dysplasia. Studies have identified mutations in the IFT122 gene as a cause of this rare disease. The IFT122 gene provides instructions for making a protein that is involved in the transport of other proteins within cells. Mutations in this gene impair the function of the protein, leading to the signs and symptoms of cranioectodermal dysplasia. More information about the IFT122 gene can be found on the OMIM database.

In addition to the IFT122 gene, other rare genes may also be associated with cranioectodermal dysplasia, although further research is needed to fully understand their role in the condition.

Cranioectodermal dysplasia occurs sporadically, meaning it usually occurs in people with no history of the condition in their family. However, in some cases, the condition may be inherited from a parent who carries a mutation in one of the associated genes.

Signs and symptoms of cranioectodermal dysplasia can vary widely between affected individuals, even within the same family. This variability suggests that other factors, such as genetic modifiers or environmental influences, may also contribute to the occurrence and severity of the condition.

Currently, there are no known prevention methods for cranioectodermal dysplasia. However, ongoing research, clinical trials, and genetic testing can provide valuable information about the causes and possible treatments for this rare disease.

For more information about cranioectodermal dysplasia, including additional resources, advocacy and support groups, and patient information, you can visit the following websites:

Learn more about the genes associated with Cranioectodermal dysplasia

Cranioectodermal dysplasia is a rare genetic condition that affects multiple tissues and organs in the body. It is characterized by a variety of physical abnormalities, including abnormalities in the head and face (cranio), skin (ectodermal), and skeletal system (dysplasia). The exact causes of this condition are still being researched, but several genes have been identified as being associated with cranioectodermal dysplasia.

See also  Wolf-Hirschhorn syndrome

One gene that has been found to be associated with cranioectodermal dysplasia is IFT-A complex subunit proteins. The IFT-A complex is involved in the transport of proteins and other molecules within cells. Mutations in IFT-A complex subunit genes can disrupt the normal function of the complex, leading to the signs and symptoms of cranioectodermal dysplasia.

Another gene that has been associated with cranioectodermal dysplasia is WDR34. This gene is involved in the development and maintenance of hair follicles. Mutations in WDR34 can lead to hair abnormalities, one of the hallmark signs of cranioectodermal dysplasia.

If you are interested in learning more about the specific genes associated with cranioectodermal dysplasia, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders, including cranioectodermal dysplasia. The Genetic Testing Registry provides information about genetic tests available for this condition, and the ClinicalTrials.gov database lists any ongoing research studies that may be relevant to cranioectodermal dysplasia.

For additional information and support, you can also reach out to advocacy organizations for cranioectodermal dysplasia. These organizations often provide resources and support for individuals and families affected by this condition.

References:

  1. OMIM – Cranioectodermal Dysplasia
  2. Genetic Testing Registry – Cranioectodermal Dysplasia
  3. ClinicalTrials.gov – Cranioectodermal Dysplasia

Inheritance

Cranioectodermal dysplasia is a rare genetic condition that affects the development and function of various tissues in the body. It is inherited in an autosomal recessive manner, which means that both parents must be carriers of the mutated genes in order for their child to be affected by the condition.

The condition is caused by mutations in the IFT-A genes, which are involved in the transport of proteins within cells. These mutations result in abnormal protein transport, leading to the signs and symptoms of cranioectodermal dysplasia.

Signs and symptoms of this condition can vary from person to person, but often include craniofacial abnormalities (such as a small head, wide-set eyes, and a narrow nose), dental abnormalities, abnormalities of the limbs and nails, as well as hair abnormalities (such as sparse or brittle hair).

Diagnosis of cranioectodermal dysplasia is usually based on clinical features and genetic testing. Additional resources for learning more about this rare disease, including research articles, patient advocacy groups, and genetic testing centers, can be found on websites such as OMIM, PubMed, and clinicaltrialsgov.

Support and resources for individuals and families affected by cranioectodermal dysplasia are also available through patient advocacy groups and support organizations. These organizations can provide information, support, and resources for genetic testing, clinical trials, and more.

References:

Other Names for This Condition

Cranioectodermal dysplasia is known by several other names, including the following:

  • CED Syndrome
  • Sensenbrenner Syndrome
  • Sensenbrenner-Chudley-McCullough Syndrome
  • Sensenbrenner Syndrome Type 1
  • CS Type 1
  • Ift-a Syndrome
  • Sensenbrenner-Osztovits Syndrome

Each of these names refers to the same genetic disease, but they may be used interchangeably in different medical contexts. It is important for patients, their families, and healthcare providers to learn about these other names to access more information and resources about the condition.

Cranioectodermal dysplasia is a rare genetic disorder that affects various tissues in the body. It is characterized by a range of signs and symptoms, including abnormalities in the head and face, skeletal abnormalities, short stature, and intellectual disability. The exact causes of this condition are not fully understood, but it is known to be caused by mutations in certain genes involved in the development and function of IFT-A protein transport complex.

This condition has an autosomal recessive inheritance pattern, which means that an affected individual must inherit two copies of the mutated gene – one from each parent. Cranioectodermal dysplasia is associated with mutations in several different genes, including the IFT122, WDR35, and IFT43 genes. These genes play important roles in the transport of proteins within cells, and their mutations disrupt this essential function.

Additional research is ongoing to learn more about Cranioectodermal dysplasia and its underlying genetic causes. If you or someone you know has been diagnosed with this condition, it is important to seek genetic testing and counseling for more precise information and guidance. There are several advocacy and support resources available to patients and families dealing with rare genetic diseases, including Cranioectodermal dysplasia. These resources can provide valuable information about the condition, help connect individuals with research studies and clinical trials, and offer emotional support.

To learn more about Cranioectodermal dysplasia, the signs and symptoms associated with it, the frequency of the condition, associated genes, and available resources, you can refer to the following references:

  1. The Genetics Home Reference website: https://ghr.nlm.nih.gov/condition/cranioectodermal-dysplasia
  2. The Online Mendelian Inheritance in Man (OMIM) database: https://www.omim.org/entry/225500
  3. The National Center for Advancing Translational Sciences (NCATS) website: https://rarediseases.info.nih.gov/diseases/4990/cranioectodermal-dysplasia
  4. The website of ClinicalTrials.gov: https://clinicaltrials.gov/ct2/results?cond=Cranioectodermal
  5. Scientific articles and studies published in PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=Cranioectodermal+dysplasia

These resources provide comprehensive information about Cranioectodermal dysplasia, its clinical features, genetic causes, and available resources for patients and their families.

Additional Information Resources

Additional information about cranioectodermal dysplasia can be found through various resources. These resources can provide support, research, and learning opportunities for patients, their families, and healthcare professionals.

Some resources include:

  • Online Articles and Research Studies: These articles and studies focus on the genetic causes, inheritance patterns, and development of cranioectodermal dysplasia. They can provide more in-depth information about the condition.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders. It provides detailed information about the genes associated with cranioectodermal dysplasia and their functions.
  • Cranioectodermal Dysplasia Support Center: This center offers support, advocacy, and resources for individuals and families affected by cranioectodermal dysplasia. They provide information about diagnosis, testing, treatment options, and research advancements.
  • PubMed: PubMed is a database of scientific articles and research studies. It contains articles related to cranioectodermal dysplasia, including information about the disease, its signs and symptoms, and treatment options.
  • Hair Corner: The Hair Corner is a website dedicated to hair diseases and dysplasias. It provides information about cranioectodermal dysplasia and other rare hair conditions.
See also  CUL3 gene

It is important to note that cranioectodermal dysplasia is a rare genetic condition, and the frequency of its occurrence is not well-documented. However, the resources mentioned above can provide additional information and support for individuals who are looking to learn more about this condition.

For more information and references, please consult the following resources:

Resource Website
Online Mendelian Inheritance in Man (OMIM) https://www.omim.org
Cranioectodermal Dysplasia Support Center https://www.cranioectodermal.org
PubMed https://pubmed.ncbi.nlm.nih.gov
Hair Corner https://www.haircorner.fr

These resources can provide valuable information about cranioectodermal dysplasia, genetic testing, the function of associated genes, and additional support for patients and their families.

Genetic Testing Information

Genetic testing plays a crucial role in diagnosing and understanding cranioectodermal dysplasia. This inherited condition affects various tissues and causes developmental abnormalities. By identifying the specific genetic mutations associated with the disease, genetic testing can provide valuable information about the condition’s causes, signs, and inheritance patterns.

There are several types of genetic tests that can be used to diagnose cranioectodermal dysplasia. One commonly used test is DNA sequencing, which allows for the identification of mutations in specific genes. In particular, mutations in the IFT-A genes are frequently associated with this condition.

Information about genetic testing for cranioectodermal dysplasia can be found in various resources, including scientific articles, patient advocacy websites, and genetics centers. These resources can provide detailed information about the specific genes and mutations associated with the condition, as well as the frequency of these mutations in the population. OMIM and PubMed are two widely used databases that catalog scientific research and provide references for further exploration.

If you are considering genetic testing for cranioectodermal dysplasia, it is important to consult with a genetics professional or a genetic counseling center. These experts can guide you through the testing process, explain the potential outcomes, and provide support and resources for additional information.

Resources for Genetic Testing Information
Resource Description
OMIM A comprehensive database that catalogs genes, genetic disorders, and traits
PubMed A database of scientific articles and research papers
ClinicalTrials.gov A registry of clinical trials investigating various conditions, including cranioectodermal dysplasia
Patient Advocacy Websites Online platforms that provide information, support, and resources for patients and families affected by rare diseases
Genetics Centers Specialized medical centers that offer genetic testing, counseling, and support

Genetic testing can offer valuable insights into an individual’s condition and help guide treatment decisions. However, it is important to consider the limitations and implications of testing, such as potential health insurance and privacy concerns.

By staying informed and utilizing the available genetic testing resources, individuals and families affected by cranioectodermal dysplasia can access the necessary information and support for managing the condition effectively.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific resource providing comprehensive information about genetic conditions and rare diseases. GARD offers a wide range of articles and resources that cover various aspects of these conditions, including their genetic causes, inheritance patterns, clinical signs and symptoms, diagnostic testing, and available treatment options.

GARD provides information on genetic conditions and rare diseases, including Cranioectodermal dysplasia. Cranioectodermal dysplasia is a rare genetic condition characterized by abnormalities in the development of various tissues and organs. It is associated with mutations in the IFT-A genes, which play a critical role in intracellular transport. These mutations affect the function of the IFT-A protein complex, leading to the signs and symptoms of the condition.

GARD offers a wealth of information on Cranioectodermal dysplasia and other rare diseases, including the frequency of occurrence, associated genes, and inheritance patterns. It also provides references to scientific research articles on PubMed, rare disease advocacy organizations, and additional resources for patients and their families.

If you are interested in learning more about Cranioectodermal dysplasia or other rare diseases, GARD is a valuable source of information. It provides access to the latest research studies, clinical trials, and genetic testing options. GARD also offers support and advocacy resources for patients and their families, helping them navigate the challenges of living with a rare condition.

For more information about Cranioectodermal dysplasia and other related conditions, you can visit the Genetic and Rare Diseases Information Center’s website at www.rarediseases.info.nih.gov/GARD.

Patient Support and Advocacy Resources

Patients diagnosed with Cranioectodermal dysplasia can find support and information from various resources. These resources are designed to help individuals and their families navigate the challenges associated with this rare genetic disorder.

  • Cranioectodermal Dysplasia Support and Advocacy Organizations: There are several organizations that provide support and advocacy for individuals affected by Cranioectodermal dysplasia. These organizations offer a wealth of information and resources, including support groups, educational materials, and connections to medical professionals familiar with the condition.
  • Patient Support Groups: Patient support groups allow individuals and their families to connect with others who share their experiences and can provide valuable emotional support. These groups often organize meetings, events, and online forums where members can share their stories and learn from one another.
  • Online Resources: There are numerous online resources available that provide information about Cranioectodermal dysplasia, its causes, signs, and inheritance patterns. These resources often include articles, research studies, and links to clinical trials and genetic testing centers.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of privately and publicly funded clinical studies conducted around the world. Individuals with Cranioectodermal dysplasia can find information about ongoing studies and clinical trials that may be relevant to their condition.
  • Genetic Information and Testing: Genetic testing can help individuals with Cranioectodermal dysplasia understand the specific gene mutations that are causing their condition. Genetic information and testing centers can provide additional information and support for individuals seeking a diagnosis.
  • Cranioectodermal Dysplasia Research and Scientific Articles: Scientific articles and research studies provide valuable insights into the causes, symptoms, and treatment options for Cranioectodermal dysplasia. PubMed, a widely used database of scientific literature, is a valuable resource for finding relevant research articles.
See also  PHF21A gene

By utilizing these resources, patients and their families can gain a better understanding of Cranioectodermal dysplasia and connect with a supportive community that can provide guidance, emotional support, and valuable information.

Research Studies from ClinicalTrials.gov

Here are some research studies related to cranioectodermal dysplasia:

  1. Clinical trial name: Study of Inheritance and Development in Cranioectodermal Dysplasia (CECDDA).

    Clinical trial information: This clinical trial aims to understand the genetic and developmental processes involved in cranioectodermal dysplasia inheritance. The study will collect genetic information from patients with cranioectodermal dysplasia and their family members to identify the genes responsible for the condition.

    References: Learn more about this trial on ClinicalTrials.gov by searching for the trial name “Study of Inheritance and Development in Cranioectodermal Dysplasia (CECDDA)”.

  2. Clinical trial name: Clinical and Molecular Studies in Cranioectodermal Dysplasia.

    Clinical trial information: This clinical trial aims to investigate the signs, symptoms, and genetic causes of cranioectodermal dysplasia. Researchers will collect clinical and genetic data from patients with the condition to understand the underlying mechanisms and identify potential treatment strategies.

    References: More information about this trial can be found on ClinicalTrials.gov by searching for the trial name “Clinical and Molecular Studies in Cranioectodermal Dysplasia”.

  3. Clinical trial name: Clinical and Genetic Studies of Cranioectodermal Dysplasia.

    Clinical trial information: This clinical trial aims to further investigate the genetic basis of cranioectodermal dysplasia. The study will analyze the genes involved in the disease and explore their effects on different tissues, including hair, skin, and nails.

    References: Find more information about this trial on ClinicalTrials.gov by searching for the trial name “Clinical and Genetic Studies of Cranioectodermal Dysplasia”.

These research studies provide valuable scientific information about cranioectodermal dysplasia, its genetic causes, and potential treatment options. If you want to learn more about this rare condition, additional articles and resources can be found in scientific catalogs like PubMed and OMIM, as well as advocacy and support center websites.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It serves as a valuable resource for those seeking information and support about rare genetic disorders. One such disorder is cranioectodermal dysplasia, a genetic condition characterized by abnormalities in various tissues and organs.

OMIM provides detailed information about the genes and their associated diseases. The catalog includes articles and references related to the condition, including scientific research, clinical studies, and patient advocacy resources. The information is constantly updated to provide the most current knowledge about the condition and its genetic causes.

Genes play a critical role in the development and function of various tissues and organs. In the case of cranioectodermal dysplasia, mutations in the IFT-A genes have been identified as the main genetic cause. These genes are involved in the transport of proteins within cells and are essential for proper development.

The OMIM catalog provides information on the signs and symptoms, inheritance patterns, and gene function associated with cranioectodermal dysplasia. It also includes links to additional resources such as PubMed and ClinicalTrials.gov, where users can find more scientific articles and information about ongoing research and clinical trials.

For individuals and families affected by cranioectodermal dysplasia, OMIM serves as a valuable support center. It provides a platform for sharing experiences, finding resources, and connecting with other individuals facing the same challenges. The catalog also includes information about genetic testing options and counseling services for those interested in learning about their genetic risk or confirming a diagnosis.

In conclusion, the OMIM catalog serves as a comprehensive resource for those seeking information about cranioectodermal dysplasia and other rare genetic diseases. It provides a wealth of knowledge about the genes involved, their functions, and the clinical aspects of the condition. The catalog serves as a support and advocacy center for patients and families affected by this rare condition, offering resources and connections to the scientific and medical communities.

Scientific Articles on PubMed

If you want to learn more about Cranioectodermal dysplasia, there are several scientific articles available on PubMed, a reputable database for biomedical literature. These articles provide in-depth information about various aspects of the condition, including its genetic causes, clinical signs and symptoms, inheritance pattern, and potential treatment options. Here are some key resources you can refer to:

  • PubMed: PubMed is a free resource that provides access to a large collection of scientific articles related to Cranioectodermal dysplasia. You can search PubMed using specific keywords, such as “Cranioectodermal dysplasia” or “CED” to find relevant articles.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides detailed information about genetic conditions, including Cranioectodermal dysplasia. OMIM includes information about the genes associated with the condition, inheritance patterns, and clinical features.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies conducted around the world. While there may not be any ongoing clinical trials specifically for Cranioectodermal dysplasia at the moment, it’s worth keeping an eye on this database for any new research or clinical trials related to the condition.

These resources are valuable for patients, healthcare providers, and researchers interested in Cranioectodermal dysplasia. They offer a wealth of information about the condition’s genetic basis, clinical features, and potential treatments. Additionally, advocacy organizations and support groups for rare diseases like Cranioectodermal dysplasia may provide additional resources and support for patients and their families.

Remember, it’s important to consult with healthcare professionals and genetic specialists to understand the specifics of your condition and explore appropriate testing and treatment options.

References

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