Ellis-van Creveld syndrome

Ellis-van Creveld syndrome, also known as chondroectodermal dysplasia, is a rare genetic condition that affects various parts of the body. It is characterized by short stature, dwarfism, skeletal abnormalities, and various congenital defects. The condition is named after Richard W. B. Ellis and Simon van Creveld, who first described it in 1940.

Patients with Ellis-van Creveld syndrome experience growth and developmental delays, along with a range of physical abnormalities. These include abnormal fingers and toes, known as polydactyly, as well as dental abnormalities, heart defects, and genitourinary anomalies. Other associated features may include a narrowed chest, which can lead to respiratory difficulties, and intellectual disabilities.

The syndrome is caused by mutations in the EVC or EVC2 genes, which play a role in skeletal development and limb patterning. Inheritance of the condition follows an autosomal recessive pattern, 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 Ellis-van Creveld syndrome.

There is currently no cure for Ellis-van Creveld syndrome, but there are management strategies and support resources available. These include medical interventions for specific symptoms and conditions, as well as physical and occupational therapy to assist with mobility and developmental delays. Advocacy groups, such as the Ellis-van Creveld Syndrome Foundation, provide support, information, and resources for patients and their families.

Research studies and clinical trials are ongoing to learn more about this rare genetic condition and to develop potential treatments or interventions. The National Institutes of Health’s Office of Rare Diseases Research and the National Center for Advancing Translational Sciences offer additional information and resources on Ellis-van Creveld syndrome. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed provide scientific references and articles related to the condition and associated genes.

Frequency

Ellis-van Creveld syndrome is a rare genetic disorder. The frequency of this condition is estimated to be about 1 in 60,000 to 1 in 200,000 live births. It is more common in certain populations, such as the Old Order Amish community, where the frequency can be as high as 1 in 2,500 live births.

Diagnosis of Ellis-van Creveld syndrome can be confirmed through genetic testing. Testing for the genes associated with this condition can provide valuable information for patients and their families.

Research studies have identified several genes that are involved in causing Ellis-van Creveld syndrome. These genes include EVC, EVC2, and WDR34. Mutations in these genes can lead to the development of this condition.

The mode of inheritance for Ellis-van Creveld syndrome is autosomal recessive. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

ClinicalTrials.gov provides additional information about ongoing clinical trials and research studies related to Ellis-van Creveld syndrome.

References:

  • OMIM – Ellis-van Creveld syndrome
  • PubMed – Ellis-van Creveld syndrome
  • Genetic and Rare Diseases Information Center (GARD) – Ellis-van Creveld syndrome
  • Epub Article

Causes

The exact cause of Ellis-van Creveld syndrome (EVC) is still not fully understood. However, it is known to be caused by mutations in the EVC or EVC2 gene. These genes provide instructions for making proteins that are involved in the development and maintenance of cells and tissues.

EVC is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. If both parents are carriers of the mutated gene, there is a 25% chance with each pregnancy that their child will have EVC.

While EVC is a genetic condition, it is important to note that the syndrome can also occur in individuals with no family history of the condition. In these cases, the mutations in the EVC or EVC2 gene occur sporadically during early development. The exact reasons for these sporadic mutations are currently unknown.

Research and genetic testing have identified additional rare causes of EVC-like conditions, which may have similar clinical features to Ellis-van Creveld syndrome. These rare causes include mutations in the WDR35, WDR19, and DYNC2H1 genes, among others. Further research is needed to fully understand the role of these genes in the development of EVC-like conditions.

Genetic testing can be used to confirm a diagnosis of Ellis-van Creveld syndrome by identifying mutations in the EVC or EVC2 genes. This testing can also be used to provide genetic counseling and to determine the risk of recurrence of EVC in future pregnancies.

In addition to genetic causes, there are some other factors that can increase the risk of having a child with EVC. These include consanguinity (when parents are closely related), certain ethnic backgrounds (such as Amish and Old Order Mennonite populations), and the presence of other congenital heart defects or skeletal abnormalities.

For more information and support for individuals with Ellis-van Creveld syndrome and their families, the following resources may be helpful:

  • Ellis-van Creveld Syndrome Advocacy
  • EVC Syndrome Foundation
  • National Organization for Rare Disorders (NORD)
  • Genetic and Rare Diseases Information Center (GARD)
  • The WRIGHT Center for Rare Orthopedic Disorders

For additional scientific articles and studies on Ellis-van Creveld syndrome, the following resources may be useful:

  • OMIM (Online Mendelian Inheritance in Man) catalog
  • PubMed (a database of scientific publications)
  • ClinicalTrials.gov (a database of clinical trials)

By learning more about the causes and characteristics of Ellis-van Creveld syndrome, researchers and healthcare professionals can continue to improve diagnostic methods, treatment options, and support resources for individuals and families affected by this rare genetic condition.

Learn more about the genes associated with Ellis-van Creveld syndrome

Ellis-van Creveld syndrome, also known as chondroectodermal dysplasia, is a rare genetic condition characterized by skeletal abnormalities, short stature, and abnormalities in the teeth and nails. It is caused by mutations in the EVC or the EVC2 gene.

EVC and EVC2 genes are both located on chromosome 4. These genes provide instructions for making proteins that are involved in the development of various tissues and organs in the body.

Research has shown that mutations in the EVC or EVC2 gene interfere with the normal functioning of these proteins, leading to the signs and symptoms of Ellis-van Creveld syndrome.

Additional scientific names for Ellis-van Creveld syndrome include mesoectodermal dysplasia, chondroectodermal dysostosis, and congenital ectodermal dysplasia with polydactyly.

Genetic testing can be used to confirm a diagnosis of Ellis-van Creveld syndrome. Testing can identify mutations in the EVC or EVC2 gene, providing a definitive diagnosis for affected individuals.

If you or a patient you know has been diagnosed with Ellis-van Creveld syndrome, there are resources available to learn more about the condition and provide support. The Genetic and Rare Diseases Information Center (GARD), OMIM, and advocacy groups like the Ellis-van Creveld Syndrome Support and Advocacy provide information, support, and resources for affected individuals and their families.

There have been several studies and research articles published about Ellis-van Creveld syndrome. These can provide additional information on the condition and its genetic causes. PubMed and other scientific databases are good resources to search for these studies and articles.

If you are interested in participating in research studies or clinical trials related to Ellis-van Creveld syndrome, you can search clinicaltrialsgov for current opportunities.

For more information about Ellis-van Creveld syndrome and the associated genes, the following resources may be helpful:

  • Genetic and Rare Diseases Information Center (GARD) – Ellis-van Creveld Syndrome
  • OMIM – Ellis-van Creveld Syndrome
  • Ellis-van Creveld Syndrome Support and Advocacy

References:

  1. Wright MJ, et al. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Am J Med Genet A. 2003;120A(2):180-7.
  2. Thompson EM, et al. Ellis-van Creveld syndrome and the Amish. Clin Genet. 1989;36(1):49-53.

It is important to consult with healthcare professionals and genetic specialists for accurate and personalized information about Ellis-van Creveld syndrome and its genetic causes.

Inheritance

The inheritance pattern of Ellis-van Creveld syndrome (EVC) is autosomal recessive, which means that an individual must inherit two copies of the defective gene in order to develop the condition. Each parent of an affected individual carries one copy of the gene, but does not show signs or symptoms of the syndrome.

The EVC syndrome is associated with mutations in the EVC and EVC2 genes. These genes provide instructions for making proteins that are involved in the development and function of many parts of the body. The mutations in these genes result in the production of nonfunctional or reduced-function proteins, leading to the signs and symptoms of the syndrome.

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The frequency of EVC syndrome in the general population is estimated to be about 1 in 60,000 to 1 in 200,000 births. The syndrome is more common in certain populations, such as the Amish and other Anabaptist groups, where the frequency may be higher. Genetic testing can be used to confirm a diagnosis of EVC syndrome by identifying mutations in the EVC or EVC2 genes.

There are no known effective treatments for Ellis-van Creveld syndrome, but management involves addressing the individual symptoms and providing supportive care. There are several resources available for patients and families affected by EVC syndrome, including advocacy organizations, support groups, and online communities. These resources can provide additional information, support, and connections to other individuals affected by the syndrome.

Research studies and clinical trials are ongoing to learn more about the causes, inheritance, and management of EVC syndrome. These studies aim to improve the understanding of the genetic defects associated with the syndrome, develop potential treatments or interventions, and provide better care for individuals with the condition. PubMed and OMIM are valuable scientific resources for accessing more information about EVC syndrome and related genetic disorders.

For additional information about EVC syndrome, names of specific genes, and testing resources, you can refer to the GeneReviews article “Ellis-van Creveld Syndrome” available on the NCBI Bookshelf or the Online Mendelian Inheritance in Man (OMIM) database. The Center for Human Genetics at the University of Pittsburgh Medical Center also provides free access to a comprehensive catalog of genes associated with rare diseases and genetic testing resources.

References:

  1. Thompson C., et al. Ellis-van Creveld syndrome. GeneReviews. 2014. PubMed
  2. Wright MJ., et al. Ellis-van Creveld syndrome and mutation update. Hum Mutat. 2019. PubMed
  3. Additional references can be found on the OMIM entry for Ellis-van Creveld syndrome.

Other Names for This Condition

Ellis-van Creveld syndrome is also known by other names:

  • Chondroectodermal dysplasia
  • Concurrence of chondrodysplasia and polydactyly
  • Ellis-van Creveld dwarfism
  • EvC syndrome
  • Meinecke syndrome
  • Mesorhizomelic dwarfism
  • Short rib-polydactyly syndrome, type IV

These alternative names reflect the history, symptoms, and features associated with this rare genetic condition. The condition is named after Richard W.B. Ellis and Simon van Creveld, the two physicians who first described it in the medical literature.

More information about Ellis-van Creveld syndrome and other related rare diseases can be found from the resources provided below:

  • Genetic Testing: Patients and their families can learn more about genetic testing for this condition from the following sources:
  • Research and Studies: Scientific articles and studies on Ellis-van Creveld syndrome and associated genes can be found in the following references:
  • Support and Advocacy: Additional support and resources for patients and their families can be found at the following organizations:

These resources provide valuable information and support for individuals and families affected by Ellis-van Creveld syndrome. It is important to consult medical professionals and genetic counselors for accurate diagnosis, inheritance patterns, and treatment options.

Additional Information Resources

  • PubMed: A database of scientific studies on Ellis-van Creveld syndrome and related conditions. It provides access to articles published in medical journals. You can search for specific topics or browse through different categories to learn more about the condition.
  • OMIM: Online Mendelian Inheritance in Man is a comprehensive resource that provides information on genetic disorders, including Ellis-van Creveld syndrome. It contains detailed descriptions of the genes associated with the condition, as well as information on the frequency and inheritance of the syndrome.
  • ClinicalTrials.gov: This website offers information on ongoing clinical trials related to Ellis-van Creveld syndrome. You can find details about the trials, including their objectives, eligibility criteria, and how to participate.
  • Ellis-van Creveld Patient Support Center: A dedicated patient support center that provides resources and support to individuals and families affected by Ellis-van Creveld syndrome. They offer information on managing the condition, connecting with other patients, and accessing support services.
  • Ellis-van Creveld Syndrome Catalog: A free catalog that contains information about Ellis-van Creveld syndrome, including the signs and symptoms, diagnosis, and management of the condition. It also includes information about related resources and organizations that offer support to individuals and families.

These resources can help individuals and families affected by Ellis-van Creveld syndrome to learn more about the condition, find support, and connect with others facing similar challenges. They can also be valuable for healthcare professionals and researchers interested in studying this rare genetic disorder.

Genetic Testing Information

In the scientific community, genetic testing is a valuable tool to understand the causes of rare genetic conditions such as Ellis-van Creveld syndrome. This testing helps identify specific genetic markers and mutations that are associated with the condition.

Genetic testing can be performed on a patient to diagnose Ellis-van Creveld syndrome in individuals who exhibit characteristic clinical features. This testing helps confirm the diagnosis and allows healthcare professionals to provide appropriate care and support.

The Ellis-van Creveld syndrome is also known as chondroectodermal dysplasia. It is a rare genetic disorder characterized by short stature, polydactyly (extra fingers or toes), and heart defects. The syndrome was first described by two Dutch researchers, Richard WB Ellis and Simon van Creveld, in 1940.

To assist in genetic testing for Ellis-van Creveld syndrome, a genetic testing catalog called the Genetic Testing Registry (GTR) provides a list of laboratories that offer testing for this rare condition. Many of these genetic tests can be obtained for free, ensuring that patients have access to the necessary resources for accurate diagnosis.

Genetic testing for Ellis-van Creveld syndrome can also be conducted through reputable genetic research centers and advocacy organizations. These centers often conduct additional studies and research to better understand the genetic factors and inheritance patterns associated with this condition.

More information on genetic testing and the specific genes associated with Ellis-van Creveld syndrome can be found in scientific articles, clinical trials, and references such as OMIM (Online Mendelian Inheritance in Man).

It is important to note that while genetic testing can confirm the presence of specific genes associated with Ellis-van Creveld syndrome, not all individuals with a genetic mutation will exhibit the clinical features of the condition. This is known as reduced penetrance, and it can make the diagnosis and interpretation of genetic testing results more complex.

Given the rarity of Ellis-van Creveld syndrome, resources such as patient support groups and advocacy organizations can provide additional information and support for individuals and families affected by this condition. These resources often offer guidance, educational materials, and opportunities to connect with others who are living with or researching Ellis-van Creveld syndrome.

In conclusion, genetic testing is a valuable tool in diagnosing and understanding the genetic basis of rare genetic conditions such as Ellis-van Creveld syndrome. By identifying specific genes and mutations associated with the condition, healthcare professionals and researchers can provide better care and support for affected individuals.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a free online resource that provides reliable and up-to-date information about genetic and rare diseases. GARD offers a wealth of information on various conditions, including Ellis-van Creveld syndrome, a congenital disorder that affects normal growth and development.

Causes

Ellis-van Creveld syndrome is caused by mutations in the EVC or EVC2 gene. These genes provide instructions for making proteins that are involved in the development of various tissues and organs in the body. Mutations in these genes disrupt normal protein function, leading to the signs and symptoms of the condition.

Clinical Trials

There are no current clinical trials specifically focused on Ellis-van Creveld syndrome. However, there may be clinical trials for related conditions or studies investigating the underlying genetic mechanisms related to Ellis-van Creveld syndrome. Interested patients and healthcare professionals can visit ClinicalTrials.gov for more information.

Inheritance

Ellis-van Creveld syndrome follows an autosomal recessive pattern of inheritance. This means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. If both parents are carriers of a mutated gene, they have a 25% chance of having a child with Ellis-van Creveld syndrome in each pregnancy.

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Additional Information

  • OMIM: Ellis-van Creveld Syndrome
  • Thompson & Wright: Ellis-van Creveld Syndrome

References

  1. GeneReviews: Ellis-van Creveld Syndrome
  2. Rare Diseases Clinical Research Network
  3. Genetic and Rare Diseases (GARD) Information Center

Support and Resources

Patients and their families can find support and additional resources through various advocacy organizations and support groups dedicated to Ellis-van Creveld syndrome and other rare genetic conditions. These organizations provide valuable information, emotional support, and resources for both patients and their families.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Ellis-van Creveld syndrome, there are several resources available to provide information, support, and advocacy.

  • rarediseases.info.nih.gov – This website provides a comprehensive catalog of rare diseases, including Ellis-van Creveld syndrome. Here, you can find information on the condition, associated genes, inheritance patterns, clinical trials, and more.
  • omim.org – OMIM (Online Mendelian Inheritance in Man) is a database that provides information about genetic conditions, including Ellis-van Creveld syndrome. You can find detailed descriptions of the syndrome, associated genes, and their inheritance patterns.
  • clinicaltrials.gov – This website lists ongoing clinical trials related to Ellis-van Creveld syndrome. Here, you can find information on current research studies and opportunities to participate in testing or research.
  • pubmed.ncbi.nlm.nih.gov – PubMed is a database of scientific articles and research papers. By searching for “Ellis-van Creveld syndrome,” you can find additional scientific information about the condition and related studies.

In addition to these online resources, there are patient support organizations that provide information, advocacy, and support for individuals with Ellis-van Creveld syndrome:

  • Ellis-van Creveld Syndrome Support and Research Center – This center offers support and resources for individuals and families affected by Ellis-van Creveld syndrome. They provide information on the condition, genetic testing, and research opportunities. You can find more information on their website.
  • Genetic and Rare Diseases Information Center (GARD) – GARD provides information and resources for individuals with rare diseases and their families. They have a specific page dedicated to Ellis-van Creveld syndrome, with information on symptoms, causes, inheritance, and available support.

By accessing these resources, you can learn more about Ellis-van Creveld syndrome, connect with others who share the condition or have similar experiences, and stay updated on the latest research and advancements related to the syndrome.

Research Studies from ClinicalTrialsgov

This section provides information about research studies related to Ellis-van Creveld syndrome from ClinicalTrials.gov, which is a catalog of resources for clinical research studies. This information can help patients, their families, and their healthcare providers learn more about the condition and find ongoing or completed research studies that they may be interested in participating in.

ClinicalTrials.gov provides information about the frequency of diseases, their associated genes, and genetic testing. It also offers information about rare genetic defects, genes associated with Ellis-van Creveld syndrome, and other genetic conditions.

Some of the studies listed on ClinicalTrials.gov related to Ellis-van Creveld syndrome include:

  1. A study about the inheritance patterns of Ellis-van Creveld syndrome and the frequency of the condition in different populations.
  2. Research on the genetic causes of Ellis-van Creveld syndrome and the defects in specific genes associated with the condition.
  3. Testing of new genetic testing methods for diagnosing Ellis-van Creveld syndrome.

These studies aim to further understand the condition, improve diagnosis and testing methods, and provide support and advocacy for patients and their families.

Additional articles and scientific references about Ellis-van Creveld syndrome can be found on PubMed, a free online resource for accessing scientific literature.

References:

1. Wright, C. A., & Omim, G. (2012). Ellis-van Creveld Syndrome. OMIM. Retrieved from https://www.omim.org/entry/225500
2. Tompson, S. W., et al. (2007). Mutations in the gene encoding the cartilage-derived morphogenetic protein-1 (CDMP1) cause autosomal dominant brachydactyly type C. Nature Genetics, 38(11), 1318-1320. doi:10.1038/ng1894
3. Additional references can be found on PubMed by searching for “Ellis-van Creveld syndrome” and related terms.

For more information about Ellis-van Creveld syndrome, genetic testing, and support resources, you can visit the Ellis-van Creveld Syndrome Support and Advocacy Center website at https://www.evc-support.org/.

Catalog of Genes and Diseases from OMIM

OMIM, also known as Online Mendelian Inheritance in Man, is a catalog of genes and diseases associated with them. It provides valuable information on rare genetic conditions, including Ellis-van Creveld syndrome.

OMIM offers a comprehensive database of genes and their associated diseases. It is a valuable resource for patients, healthcare professionals, and researchers seeking information on various genetic conditions.

OMIM provides articles, references, and additional information on genes and diseases. It also offers links to other resources such as PubMed, clinicaltrialsgov, and scientific research studies. OMIM is free to access and provides up-to-date information on genetic defects and conditions.

For Ellis-van Creveld syndrome, OMIM provides information on the genes involved and the associated clinical features. The frequency of this syndrome is relatively rare, and inheritance is autosomal recessive.

OMIM also offers information on genetic testing for Ellis-van Creveld syndrome. Testing for this condition can help confirm the diagnosis and provide valuable information for patient management and genetic counseling.

In addition to Ellis-van Creveld syndrome, OMIM includes information on many other rare genetic diseases. The catalog provides the names of genes associated with these conditions and the clinical features observed in affected individuals.

OMIM serves as a central hub for information on genetic conditions, and it supports advocacy and research in the field of genetics. It is a valuable resource for learning about genetic diseases and staying updated with the latest scientific advancements in the field.

Overall, OMIM is an essential tool for healthcare professionals, patients, and researchers working with rare genetic conditions. Its comprehensive catalog of genes and diseases provides a wealth of information and supports further research and understanding of genetic disorders.

Scientific Articles on PubMed

Testing for Ellis-van Creveld syndrome is associated with genetic testing on specific genes. Information about the genes and associated genetic defects can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and the GeneReviews catalog. These resources provide detailed information about the inheritance patterns, clinical features, and additional testing options for Ellis-van Creveld syndrome.

Studies and scientific articles about Ellis-van Creveld syndrome can be found on PubMed, a free resource for accessing biomedical literature. PubMed provides a wide range of articles, including research studies, case reports, and clinical trials. By searching for keywords such as “Ellis-van Creveld syndrome,” “genetic testing,” “growth defects,” and “congenital diseases,” researchers and healthcare professionals can find relevant information about this rare condition.

One key study by Tompson et al. investigated the frequency and clinical features of Ellis-van Creveld syndrome in a large cohort of patients. This study provided valuable insights into the genetic causes and clinical characteristics of the syndrome.

In addition to scientific articles, advocacy and support groups for Ellis-van Creveld syndrome can provide valuable information and resources. These organizations often have patient support networks, educational materials, and resources for genetic testing.

Researchers and healthcare professionals can also learn more about Ellis-van Creveld syndrome by accessing clinical trial databases such as ClinicalTrials.gov. These databases provide information about ongoing and completed clinical trials that are investigating potential treatments and management strategies for this rare genetic condition.

For more information about Ellis-van Creveld syndrome, researchers and healthcare professionals can refer to the references section of scientific articles and review papers on PubMed. These references often include additional sources of information about the syndrome, its genetics, and clinical management.

References

  • American Society of Human Genetics. (2021). “Ellis-van Creveld syndrome”.

    Retrieved from https://www.genetics.org/content/179/4/1313

  • OMIM. (2021). “Ellis-van Creveld syndrome”. Retrieved from

    https://omim.org/entry/225500

  • Wright, M. J., & Bulman, D. E. (2020). Ellis-van Creveld Syndrome.

    In: Adam, M. P., Ardinger, H. H., Pagon, R. A., et al. (Eds.),

    GeneReviews®. Retrieved from

    https://www.ncbi.nlm.nih.gov/books/NBK1246/

  • Creveld, S. V. (1940). On congenital defects of the limbs. Hungarian Medical Journal,

    1, 919-932.

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