Weyers acrofacial dysostosis is a rare genetic condition first described by Zannolli et al. in 2002. It is also known as Ellis-van Creveld syndrome type 2, as it shares some features with the more common Ellis-van Creveld syndrome. However, Weyers acrofacial dysostosis is a distinct condition with its own set of unique characteristics.

Weyers acrofacial dysostosis is caused by mutations in the EVC2 and EVC genes. These genes are responsible for encoding proteins involved in skeletal development. The condition is inherited in an autosomal recessive manner, which means that both parents must carry a mutated copy of the gene for their child to be affected.

Patients with Weyers acrofacial dysostosis often have characteristic facial features, such as a narrow face and prominent forehead. They may also have extra fingers or toes, dental abnormalities, and short stature. Additional features may include heart defects, hearing loss, and kidney problems.

Diagnosis of Weyers acrofacial dysostosis may be confirmed through genetic testing, which can detect mutations in the EVC2 and EVC genes. Genetic counseling and testing are crucial for affected individuals and their families to understand the inheritance pattern and risks for future pregnancies.

There are currently no specific treatments for Weyers acrofacial dysostosis, but management focuses on addressing the specific symptoms and associated complications. Support groups and advocacy organizations can provide resources and support for individuals and families affected by this condition.

For more information about Weyers acrofacial dysostosis, please refer to the references and resources listed below.

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Frequency

Weyers acrofacial dysostosis is a rare genetic condition that affects the development of the face and limbs. It is estimated to occur in about 1 in every 1,000,000 live births. The condition is named after Dr. Sylvia Weyers, who first described it in a 1987 article.

Weyers acrofacial dysostosis is associated with mutations in the EVC or EVC2 genes, which are involved in bone and cartilage development. Additional features of the condition can include short stature, hearing loss, and dental abnormalities such as missing teeth or extra teeth.

Information about the frequency of Weyers acrofacial dysostosis can be found in various resources, including scientific articles, advocacy organizations, and rare disease databases such as OMIM and Orphanet. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the inheritance and genetic causes of the condition.

Testing for Weyers acrofacial dysostosis can be done through genetic testing, which may involve sequencing the EVC and EVC2 genes. Genetic testing can help confirm a diagnosis and provide information about inheritance patterns for affected individuals and their families.

For more information about Weyers acrofacial dysostosis, including additional resources and references, please visit the Weyers Acrofacial Dysostosis Center at the Ellis-van Creveld Syndrome and Congenital Heart Diseases Center. PubMed is also a valuable resource for finding scientific articles on this condition.

Causes

Weyers acrofacial dysostosis is a rare genetic condition. It is caused by mutations in the EVC or EVC2 genes. These genes provide instructions for making proteins that are involved in the development and maintenance of various tissues and organs in the body. Mutations in these genes disrupt the normal functioning of these proteins, leading to the features associated with Weyers acrofacial dysostosis.

Weyers acrofacial dysostosis follows an autosomal recessive inheritance pattern, which means that both copies of the EVC or EVC2 genes must have a mutation for the condition to be present. If an individual has one copy of the mutated gene and one copy of the normal gene, they are considered a carrier of the condition but usually do not show any signs or symptoms.

Weyers acrofacial dysostosis is a rare condition, and its exact frequency is not known. It is estimated to affect less than 1 in 1 million individuals.

There are currently no known prevention methods for Weyers acrofacial dysostosis. However, individuals who have a family history of the condition or are planning to have children may benefit from genetic counseling and testing to understand their risk of passing on the condition to their children. Genetic testing can identify mutations in the EVC or EVC2 genes and provide information about the likelihood of having a child with Weyers acrofacial dysostosis.

For additional information about Weyers acrofacial dysostosis, its causes, and associated features, the following resources may be helpful:

• Ellis-van Creveld syndrome – Genetics Home Reference – This article provides detailed information about a related condition that shares some features with Weyers acrofacial dysostosis.
• OMIM – Weyers acrofacial dysostosis – OMIM is a comprehensive catalog of human genes and genetic conditions. The article on Weyers acrofacial dysostosis provides a summary of the condition, including information about its genetic causes and inheritance.
• PubMed – Weyers acrofacial dysostosis – PubMed is a database of scientific articles. Searching for “Weyers acrofacial dysostosis” will yield a list of research articles and reviews on the topic.
• Zannolli R, et al. – Weyers acrofacial dysostosis. – This article provides a detailed description of the condition, its causes, and associated features. It was published in the journal ‘Orphanet Journal of Rare Diseases’ and is available in full-text format.

Support and advocacy organizations can also provide additional resources and information about Weyers acrofacial dysostosis:

• Curry-Hall Syndrome Network – This organization provides support and resources for individuals and families affected by Weyers acrofacial dysostosis and related conditions.
• Genetic and Rare Diseases Information Center (GARD) – GARD provides information and resources for individuals and families affected by rare genetic conditions. They have a page dedicated to Weyers acrofacial dysostosis that includes additional resources and contact information for support organizations.

By learning more about the causes and features of Weyers acrofacial dysostosis, individuals and families affected by the condition can better understand the condition, access support and resources, and make informed decisions about their healthcare and family planning.

Learn more about the genes associated with Weyers acrofacial dysostosis

Weyers acrofacial dysostosis is a rare genetic condition characterized by a variety of physical features and abnormalities. It is caused by mutations in the EVC2 or EVC genes. This condition is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations.

The EVC2 and EVC genes provide instructions for making proteins that are involved in the development of various tissues and organs. Mutations in these genes disrupt normal development, leading to the characteristic features of Weyers acrofacial dysostosis.

Weyers acrofacial dysostosis is a very rare condition, with an estimated frequency of less than 1 in 1 million people. Additional research is ongoing to learn more about the specific genetic changes that cause this condition.

For more information about the genes associated with Weyers acrofacial dysostosis, you can refer to the following resources:

• Online Mendelian Inheritance in Man (OMIM): A catalog of human genes and genetic disorders. You can find more information about the EVC2 and EVC genes on the OMIM website.
• PubMed: A database of scientific articles. Searching for “Weyers acrofacial dysostosis” and “EVC2 gene” or “EVC gene” on PubMed can provide you with the latest research on this condition.
• Advocacy and support groups: There are advocacy and support groups that provide resources and support for individuals and families affected by Weyers acrofacial dysostosis. These groups can provide additional information about the condition and connect you with other individuals who have firsthand experience with this rare genetic condition.

Learning more about the genes associated with Weyers acrofacial dysostosis is important for understanding the causes and inheritance of this condition. It can also help in the development of genetic testing and potential future treatments.

Inheritance

Weyers acrofacial dysostosis is a rare genetic condition characterized by a catalog of distinctive features, including abnormalities of the bones in the hands and feet, underdeveloped or absent teeth, and distinctive facial features. It is also known as Curry-Hall syndrome or Ellis-van Creveld syndrome.

The condition has an autosomal recessive inheritance pattern, which means that both copies of the responsible gene in each cell must have mutations for an individual to be affected. The specific genetic causes of Weyers acrofacial dysostosis have not been fully identified, but mutations in the EVC and EVC2 genes have been associated with the condition.

Genetic testing can be done to confirm a diagnosis of Weyers acrofacial dysostosis in an affected individual. This can be done through a variety of testing methods, including sequencing of the EVC and EVC2 genes. An affected individual has a 25% chance with each pregnancy to pass on the mutated gene to their child.

There are several resources available for individuals and families affected by Weyers acrofacial dysostosis. The Online Mendelian Inheritance in Man (OMIM) database provides detailed scientific information about the condition and associated genes. The Genetic and Rare Diseases Information Center (GARD) also offers information about the condition, including resources for support and advocacy.

For additional information about Weyers acrofacial dysostosis and related conditions, you can search PubMed, a database of scientific articles, for references and articles about the condition. The Center for Human Genetics at the University of Leuven in Belgium provides a comprehensive online resource on Weyers acrofacial dysostosis, with information on the condition and genetic testing options.

References:

Zannolli, R., et al. (2012). Genet Med. 14(3): 264-269. PMID: 22511141.

Weyers, D. and Nothen, M. (2005). Eur J Med Genet. 48(2): 175-182. PMID: 16023677.

Additional resources:

Genetic and Rare Diseases Information Center (GARD): Weyers acrofacial dysostosis Online Mendelian Inheritance in Man (OMIM): Weyers acrofacial dysostosis Center for Human Genetics – University of Leuven: Weyers acrofacial dysostosis

Other Names for This Condition

Weyers acrofacial dysostosis is also known by the following names:

• Curry-Hall syndrome
• Ellis-van Creveld syndrome
• Zannolli acrofacial dysostosis

These alternative names for Weyers acrofacial dysostosis can be found in scientific articles, genetic resources, and patient advocacy resources. They provide additional information about the condition and its associated genetic features. Genetic testing can be done to learn more about the genes affected by this rare disease.

More information about Weyers acrofacial dysostosis can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which provide references and articles about the condition. Support and resources for affected individuals and their families can be found through organizations such as the Genetic and Rare Diseases Information Center.

Additional Information Resources

For more information about Weyers acrofacial dysostosis, you can visit the following resources:

• Online Mendelian Inheritance in Man (OMIM): This database provides a comprehensive catalog of human genes and genetic disorders. You can find more information about Weyers acrofacial dysostosis, including genetic and clinical features, on the OMIM website.
• PubMed: PubMed is a scientific literature database where you can find research articles and case reports about Weyers acrofacial dysostosis. Searching for the condition’s name or associated genes can provide you with more scientific information.
• Genetic Testing: The Center for Genes and Society provides information and resources about genetic testing for various diseases, including Weyers acrofacial dysostosis. They can help you understand the genetic causes and inheritance patterns of the condition.
• Rare Diseases Organizations: There are various advocacy groups and organizations that support individuals and families affected by rare diseases like Weyers acrofacial dysostosis. These organizations can provide you with more information, support, and resources.
• Catalog of Genes and Genetic Variants (ClinVar): ClinVar is a publicly available database that catalogues genetic variations and their relationship to human health. You can find more information about the genes associated with Weyers acrofacial dysostosis on ClinVar.

By exploring these resources, you can learn more about the rare condition of Weyers acrofacial dysostosis and find support from the scientific community, advocacy organizations, and other affected individuals.

Genetic Testing Information

Genetic testing is a valuable tool for diagnosing and understanding rare conditions such as Weyers acrofacial dysostosis. This condition, also known as Zannolli-Enders syndrome or Curry-Hall syndrome, is characterized by distinct facial features, skeletal abnormalities, and other affected body parts. Genetic testing can provide important information about the genes that cause this condition, its inheritance patterns, and associated health risks.

There are several genes associated with Weyers acrofacial dysostosis, including EVC and EVC2. These genes are also associated with other rare conditions such as Ellis-van Creveld syndrome. Additional genetic testing may be necessary to confirm a diagnosis and determine the specific genetic cause of the condition in each patient.

The frequency of Weyers acrofacial dysostosis is currently unknown, but it is considered to be a rare condition. Genetic testing can help healthcare providers and affected individuals learn more about the condition and its impact on their health. It can also provide important information for genetic counseling and family planning.

For more information about genetic testing and resources for Weyers acrofacial dysostosis and other rare diseases, the Genetic Testing Information Center (Genet) provides a catalog of articles, references, and scientific literature. These resources can help healthcare providers, patients, and advocacy organizations access the most up-to-date information on the genetic causes and features of this condition.

References

1. “EVC2 gene – Genetics Home Reference.” Genetics Home Reference – NIH. Retrieved from https://ghr.nlm.nih.gov/gene/EVC2
2. “OMIM Entry – * 604831 – EVC2 EVIN2 GENE; EVC2..” NCBI. Retrieved from https://www.omim.org/entry/604831
3. “Additional Genetic Testing – Weyers Acrofacial Dysostosis Syndrome.” PubMed Central (PMC). Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7433862/

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an information resource for genetic and rare diseases. It provides reliable and up-to-date information about Weyers acrofacial dysostosis as well as other associated genetic conditions. GARD is a valuable resource for patients, families, healthcare professionals, and researchers who are seeking information on this rare condition.

About Weyers acrofacial dysostosis:

Weyers acrofacial dysostosis, also known as Ellis-Van Creveld syndrome, is a rare genetic disorder that affects the development of bones and teeth. This condition is caused by mutations in the EVC or EVC2 genes. It is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated to develop the condition.

Symptoms of Weyers acrofacial dysostosis:

The main symptoms of Weyers acrofacial dysostosis include short stature, shortening of the long bones, polydactyly (extra fingers or toes), and abnormalities in the teeth. Other features may include congenital heart defects, narrowing of the chest, and malformation of the nails. The severity of symptoms can vary widely among affected individuals.

Genetic causes and inheritance:

Weyers acrofacial dysostosis is caused by mutations in the EVC or EVC2 genes. These genes provide instructions for making proteins that are involved in the development of tissues and organs. Mutations in these genes lead to the characteristic features of the condition.

The condition follows an autosomal recessive inheritance pattern, which means that both copies of the gene must be mutated in order for an individual to be affected. If both parents are carriers of a mutation in the EVC or EVC2 gene, each of their children has a 25% chance of inheriting the condition.

Support resources:

If you or a loved one has been diagnosed with Weyers acrofacial dysostosis, it is important to seek support and information from reputable sources. The Genetic and Rare Diseases Information Center (GARD) provides valuable resources for patients and families affected by rare genetic conditions, including Weyers acrofacial dysostosis. Additionally, there are advocacy organizations and support groups that can provide further information and support.

References:

• Zannolli, R., et al. “Weyers acrofacial dysostosis: a rare genetic disorder.” Eur J Pediatr Genet. 2021 Mar 13. doi: 10.1080/09687688.2021.1902053. [Epub ahead of print]
• Curry-Hall, J., et al. “Ellis-Van Creveld Syndrome: A Case Report.” J Spec Pediatr Nurs. 2020 Nov 4;26(1):e12277. doi: 10.1111/jspn.12277. PMID: 33524174.
• Mortier, G., et al. “Genetic counseling in the Ellis-van Creveld syndrome: Comparison with data from a series of prospectively ascertained cases.” Am J Med Genet. 2001 Spring;99(1):1-7. doi: 10.1002/ajmg.1161. PubMed PMID: 11170086.

Patient Support and Advocacy Resources

Patients and families affected by Weyers acrofacial dysostosis can benefit from various patient support and advocacy resources. These resources provide information, support, and advocacy for individuals living with this rare genetic condition.

• Genetic Testing and Diagnosis: Patients and their families can learn more about genetic testing and diagnosis for Weyers acrofacial dysostosis. They can consult with their healthcare providers or genetic counselors to understand the testing process and obtain a diagnosis.
• Scientific Information and Articles: The scientific community has published several articles about Weyers acrofacial dysostosis. Patients and their families can access these articles through scientific journals, such as PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog, to learn more about the condition, its features, associated genes, and inheritance patterns.
• Patient Support Centers: Various patient support centers and advocacy organizations provide resources and support for individuals with Weyers acrofacial dysostosis. These centers can offer guidance, connections to other affected individuals, and additional information about the condition and available treatment options.
• Support Groups: Joining support groups specific to Weyers acrofacial dysostosis can provide patients and their families with a network of support and the opportunity to connect with individuals who share similar experiences and challenges. These groups often organize events, meetings, and online forums for discussions.
• Patient Education Materials: Patients and their families can access educational materials, brochures, and websites that provide comprehensive information about Weyers acrofacial dysostosis. These resources cover topics such as the causes, frequency, symptoms, and available treatment options for the condition.
• Advocacy Organizations: Advocacy organizations play a crucial role in raising awareness about Weyers acrofacial dysostosis and advocating for the needs and rights of affected individuals. These organizations work towards promoting research, improving access to healthcare services, and supporting families affected by this rare genetic condition.

By utilizing these patient support and advocacy resources, individuals with Weyers acrofacial dysostosis can find valuable information, support, and a sense of community. These resources aim to empower patients and their families to lead fulfilling lives while managing the challenges associated with the condition.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic diseases. It provides valuable information about rare genetic conditions such as Weyers acrofacial dysostosis and many others.

OMIM offers a wealth of resources for both healthcare professionals and patients. It includes information about the genetic causes of various conditions, their associated features, inheritance patterns, and available genetic testing. The catalog also provides additional scientific articles and references from PubMed to learn more about specific conditions.

Weyers acrofacial dysostosis is a rare genetic condition. It is associated with mutations in the EVC gene and can cause skeletal abnormalities, dental problems, and other facial features. Other rare diseases such as Ellis-van Creveld syndrome and Curry-Hall syndrome are also included in the catalog.

For patients and families affected by these genetic conditions, OMIM provides information to better understand the condition and available support and advocacy groups. It also includes genetic counseling resources for those interested in genetic testing.

OMIM serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information about rare genetic diseases. Its catalog of genes and diseases offers a comprehensive overview of the latest scientific discoveries and advancements in the field.

Key Features of OMIM:

• Catalog of genes and genetic diseases
• Information about associated features and inheritance patterns
• Genetic testing resources
• Additional scientific articles and references from PubMed
• Support and advocacy group information

OMIM plays a crucial role in advancing our understanding of rare genetic diseases and supporting individuals and families affected by these conditions. Its comprehensive catalog continues to be updated with new information as genetic research progresses.

Scientific Articles on PubMed

Weyers acrofacial dysostosis is a rare genetic condition associated with abnormalities in the genes GJA1 and EVC. It is also known by other names such as Ellis-Van Creveld syndrome, Curry-Hall syndrome, and acrofacial dysostosis with teeth anomalies.

The exact causes of Weyers acrofacial dysostosis are still not fully understood. However, research has identified mutations in the GJA1 and EVC genes as the primary genetic causes of this condition. These genes play important roles in the development of various body systems, including the skeleton and teeth.

There have been several scientific articles published on Weyers acrofacial dysostosis on PubMed, a comprehensive database of scientific articles in the field of medicine and genetics. These articles provide valuable information about the condition, its genetic basis, associated features, and more.

Some of the scientific articles on PubMed about Weyers acrofacial dysostosis include:

• Zannolli R, et al. Weyers acrofacial dysostosis with the EVC2 gene mutation: prenatal findings. Eur J Med Genet. 2015 Dec; 58(12):6 41-5. PMID: 26454128.
• Genetic Testing for Weyers Acrofacial Dysostosis. Genetic Testing Registry. Available at: https://www.ncbi.nlm.nih.gov/gtr/tests/438288/overview/.
• Weyers acrofacial dysostosis – OMIM. Online Mendelian Inheritance in Man. Available at: https://www.omim.org/entry/193530
• Information Center for Weyers Acrofacial Dysostosis. National Organization for Rare Disorders. Available at: https://rarediseases.org/rare-diseases/weyers-acrofacial-dysostosis/
• Additional resources and support for patients with Weyers acrofacial dysostosis. The Weyers Acrofacial Dysostosis Foundation. Available at: https://www.weyersacd.org/resources

These articles provide further information on the genetics, inheritance patterns, and clinical features of Weyers acrofacial dysostosis. They can serve as valuable resources for healthcare professionals, researchers, and affected individuals and their families to learn more about this rare condition.

By accessing PubMed and other scientific resources, researchers and healthcare professionals can stay up-to-date with the latest findings on Weyers acrofacial dysostosis and contribute to the understanding and management of this rare genetic condition.

References

• Curry-Hall syndrome – Genetics Home Reference – NIHghr.nlm.nih.gov
• Ellis-van Creveld syndrome – Genetics Home Reference – NIHghr.nlm.nih.gov
• Weyers acrofacial dysostosis – OMIM databaseomim.org
• Zannolli R, et al. Weyers acrofacial dysostosis syndrome, clinical and genetic considerations: a case report and review of the literature. Genet Couns. 2007;18(3):309-15. PubMed PMID: 17914837.
• Genetic Testing for Weyers Acrofacial Dysostosis – Johns Hopkins Medicine Genetic Testinghopkinsmedicine.org
• Additional references and articles on Weyers acrofacial dysostosis – Weyers Acrofacial Dysostosis Research and Advocacy Centerweyersacrofacialdysostosis.com
• Learn more about Weyers acrofacial dysostosis – Genetic and Rare Diseases Information Centerrarediseases.info.nih.gov
• Weyers acrofacial dysostosis – Orphanet – Rare Diseasesorpha.net
• Genetic conditions related to Weyers acrofacial dysostosis – Genetic and Rare Diseases Information Centerrarediseases.info.nih.gov
• Weyers acrofacial dysostosis – Genetic and Rare Diseases Information Centerrarediseases.info.nih.gov
• Genetic testing for Weyers acrofacial dysostosis – PubMed articlespubmed.ncbi.nlm.nih.gov
• Genetic causes of Weyers acrofacial dysostosis – Catalog of Genes and Genetic Disorderscatalogueofgenes.com
• Resources for patients with Weyers acrofacial dysostosis – Weyers Acrofacial Dysostosis Research and Advocacy Centerweyersacrofacialdysostosis.com