This article is about the rare genetic condition called Anonychia congenita, also known as congenital anonychia. Anonychia congenita is a condition in which a person is born without fingernails or toenails. It is inherited in an autosomal recessive manner.
Anonychia congenita is caused by mutations in the ARSJ gene, which is associated with the development of nails. The frequency of this condition is unknown, but it is considered to be rare.
Patient advocacy groups and resources such as OMIM and PubMed provide additional support and information for people with Anonychia congenita. Genetic testing can be done to confirm the diagnosis and to identify the specific gene mutations associated with the condition.
Scientific articles and other resources, such as the Center for Rare Diseases and the Zerres catalog, provide more information on the causes, inheritance, and treatment of Anonychia congenita. Researchers, such as Steensel and Bergmann, have published articles on this condition and its associated genes.
Learn more about Anonychia congenita and find support and resources for individuals and families affected by this condition.
Frequency
Anonychia congenita is a rare genetic condition that affects the nails. It is associated with the absence or underdevelopment of the fingernails or toenails at birth. The frequency of anonychia congenita is not well-documented, but it is considered to be a rare condition.
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.
There are different types of anonychia congenita, each with its own frequency within the population. The exact numbers are not known, but it is estimated that anonychia congenita affects about 1 in 100,000 people.
This condition can be inherited in an autosomal recessive manner, meaning both parents must carry a copy of the gene mutation for their child to be affected. However, in some cases, anonychia congenita can also occur sporadically without a family history of the condition.
Scientific resources such as the OMIM catalog and PubMed provide additional information on anonychia congenita and its associated genes. Novel genes associated with anonychia congenita, such as R-spondin and RSPO4, have been identified through genetic testing and research.
For patients and families affected by anonychia congenita, there are advocacy and support resources available. The Nail Anonychia Support Center provides information and resources for patients and families, and can help connect them with other individuals affected by the condition.
To learn more about anonychia congenita, its causes, inheritance patterns, and treatment options, you can refer to the scientific literature and references mentioned in this article. These resources will provide a comprehensive understanding of this rare condition and the available support and treatment options.
Causes
Anonychia congenita is a rare genetic condition characterized by the absence or underdevelopment of fingernails. The exact causes of this condition are still not fully understood. However, recent scientific research has identified several genes that are associated with anonychia congenita.
One of the known genes associated with anonychia congenita is R-SPONDIN. Mutations in this gene have been found in some individuals with the condition. Additional genes, such as ZERRES, SENDEREK, and BERGMANN-VON EICHENHOFER, have also been implicated in the development of anonychia congenita.
Inheritance of anonychia congenita can be autosomal recessive, autosomal dominant, or X-linked recessive, depending on the specific gene involved.
For more information about the genes associated with anonychia congenita, you can refer to resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Center for Advocacy in Rare Diseases. These resources provide comprehensive articles, patient advocacy resources, and genetic testing information.
It is important to note that anonychia congenita is a rare condition, and more research is needed to fully understand its causes and associated genes. With ongoing scientific advancements, we hope to learn more about this nail condition and find novel ways to support patients with anonychia congenita.
Learn more about the gene associated with Anonychia congenita
Anonychia congenita is a rare condition characterized by the absence or underdevelopment of nails. This genetic disorder can be inherited in an autosomal recessive manner, meaning that both parents must carry and pass on the gene for their child to be affected by the condition.
Scientific studies have identified several genes associated with Anonychia congenita. One of these genes is R-spondin, which plays a critical role in nail development. Mutations in the R-spondin gene can lead to abnormal nail formation and the development of Anonychia congenita.
The Center for Anonychia Congenita and Other Nail Diseases is a valuable resource for information on this condition. Their website provides articles, genetic testing resources, and additional support for patients and families affected by Anonychia Congenita.
To learn more about the gene associated with Anonychia congenita, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog. This database contains comprehensive information on genes, genetic conditions, and their associated symptoms. You can search for Anonychia congenita or specific gene names to find more scientific articles and references.
The research articles published on PubMed are also a good source of information on the genetic causes and mechanisms of Anonychia congenita. By searching for keywords like “Anonychia congenita” or “nail disorders,” you can find studies conducted by experts in the field.
If you or someone you know has been diagnosed with Anonychia congenita, it may be helpful to connect with patient advocacy groups and support networks. Organizations like the Zerres-Steensel Research Center and the Bergmann Advocacy Center provide resources, information, and community connections for individuals and families affected by rare genetic diseases like Anonychia congenita.
By learning more about the gene associated with Anonychia congenita, you can better understand the condition, explore testing options, and find support and resources for managing the condition.
Inheritance
The inheritance pattern of anonychia congenita is not fully understood. The condition can be inherited in an autosomal dominant or autosomal recessive manner, depending on the underlying genetic cause.
Several genes have been identified as causing anonychia congenita. Some of the genes associated with this condition include RSPO4, AEC, KRT14, and ZNF750. Mutations in these genes can lead to abnormal development of the fingernails.
Scientific articles and resources on anonychia congenita and its inheritance can be found in various databases such as PubMed, OMIM, and Genet Test Mol Biomarkers. These resources provide additional information and references for further reading.
Genetic testing can be done to identify mutations in the genes associated with anonychia congenita. This testing can help confirm the diagnosis and provide information on the specific genetic cause of the condition.
More information about anonychia congenita and its inheritance can be found from advocacy organizations, such as the Nail-Patella Syndrome International Support Center and the National Organization for Rare Disorders. These organizations provide support, resources, and additional information on rare genetic conditions like anonychia congenita.
In summary, the inheritance pattern of anonychia congenita can vary depending on the underlying genetic cause. Genetic testing can help identify the specific gene mutations associated with the condition. Additional resources and support can be found from advocacy organizations dedicated to rare genetic diseases.
Other Names for This Condition
Anonychia congenita is a rare genetic condition that affects the development of fingernails. This condition may also be referred to by other names, which include:
- Congenital anonychia
- Congenital absence of nails
- Isolated congenital nail aplasia
- Isolated congenital anonychia
It is important to learn about these additional names for anonychia congenita as it can help in searching for more information and resources on this condition.
Genetic testing is available to diagnose anonychia congenita. There are multiple genes associated with this condition, such as the R-spondin gene and others. Testing for these genes can provide more information about the genetic causes and inheritance of anonychia congenita.
For more information on anonychia congenita, the following resources may be helpful:
- OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders
- PubMed – a database of scientific articles
- Genetic and Rare Diseases Information Center (GARD)
- Anonychia Congenita patient advocacy and support groups
- Novel genes and additional associated genes of anonychia congenita (Bergmann et al, 2011)
- An article on the genetics of congenital nail disorders by Steensel et al (2004)
By learning more about anonychia congenita and the resources available, patients and their families can better understand the condition and seek appropriate support and treatment options.
References:
- Bergmann C, et al. Novel genes and additional findings in nail-patella syndrome and related disorders. Am J Hum Genet. 2011;87(4):507-519.
- Steensel MAMV, et al. Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Mutations in RSPO4 and U2HR. Am J Hum Genet. 2004;74(5):790-793.
Additional Information Resources
Here are some additional resources for learning more about Anonychia Congenita:
- OMIM: OMIM, Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic diseases. You can find information about Anonychia Congenita on OMIM.
- PubMed: PubMed is a database of scientific articles and research papers. You can search for articles about Anonychia Congenita on PubMed to learn more about the condition.
- Genetic Testing: Genetic testing can be done to confirm the diagnosis of Anonychia Congenita and identify any specific gene mutations. Speak with a genetic counselor or healthcare provider for more information.
- Support and Advocacy: Support groups and advocacy organizations can provide additional resources and support for patients and families affected by Anonychia Congenita. Connect with these organizations to learn more about the condition and connect with others in similar situations.
These resources can provide more information about the causes, inheritance patterns, and frequency of Anonychia Congenita. They can also provide information about rare gene mutations, such as mutations in genes like R-spondin and RSPO4, which have been associated with this condition.
Remember, it is important to consult with a medical professional or specialist for personalized information and guidance related to Anonychia Congenita.
Genetic Testing Information
Anonychia congenita is a rare condition characterized by the absence or malformation of fingernails. This condition can be caused by various genetic factors. Genetic testing can provide valuable information about the underlying causes of anonychia congenita.
Genetic testing involves the analysis of an individual’s DNA to identify specific genetic changes that may be associated with the condition. This can help determine the inheritance pattern and potentially provide insight into the frequency of the disease in a population.
There are several genes that have been identified as causing anonychia congenita. One of these genes is R-spondin 4 (RSPO4), which is involved in the development of nails. Mutations in this gene can lead to the absence or malformation of nails.
To learn more about the genetic causes of anonychia congenita, researchers have conducted scientific studies and published articles on the topic. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on genetic disorders, including anonychia congenita.
In addition to scientific articles, there are also advocacy and support resources available for patients and their families affected by anonychia congenita. These resources can provide additional information and support for individuals with this condition.
Genetic testing for anonychia congenita can help confirm a diagnosis and provide information about the specific genetic changes involved. This information can be important for understanding the inheritance pattern and recurrence risk for future generations.
In summary, genetic testing is a valuable tool for understanding the genetic basis of anonychia congenita. It can provide important information about the underlying causes of the condition and help guide patient management and genetic counseling.
For more information and resources on anonychia congenita, refer to the following:
- Bergmann C, Senderek J, Anonychia Congenita,, in: GeneReviews [Internet]. University of Washington, Seattle; 2012.
- Steensel MA, et al. Anonychia congenita: an overview and classification. J Am Acad Dermatol. 2004;51(5):782-7.
- Additional articles and references can be found in the PubMed database.
| Resources | Genetic Testing Centers |
|---|---|
| Anonychia Congenita Advocacy and Support Center | Center for Genomic Medicine, University of Michigan |
| Anonychia Congenita Foundation | Department of Molecular and Human Genetics, Baylor College of Medicine |
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the Office of Rare Diseases Research (ORDR). GARD provides information on genetic and rare diseases for patients and their families, healthcare professionals, and the public.
Anonychia congenita is a rare genetic condition characterized by the absence or severe underdevelopment of fingernails and, in some cases, toenails. It is often an isolated condition, but it can also occur as part of a syndrome with additional features.
The condition is typically inherited in an autosomal dominant manner, which means that a mutation in a single gene is sufficient to cause the condition. Mutations in the R-spondin genes (RSPO4 and RSPO3) have been identified as a cause of anonychia congenita.
Genetic testing can be performed to confirm a diagnosis of anonychia congenita. Additional testing may be necessary to determine if the condition is associated with any other features or syndromes.
There are currently no specific treatments for anonychia congenita, but management may involve addressing any associated symptoms and providing support and resources for affected individuals and their families.
The frequency of anonychia congenita is unknown, but it is considered to be a rare condition. More research is needed to determine the exact prevalence of the condition.
For more information about anonychia congenita, you can visit the following resources:
- Genetic and Rare Diseases Information Center (GARD): GARD provides information on anonychia congenita, including symptoms, causes, and treatment options. Visit their website at https://rarediseases.info.nih.gov/diseases/5616/anonychia-congenita
- Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of human genes and genetic disorders, including anonychia congenita. Visit their website at https://omim.org/entry/206800
- PubMed: PubMed is a database of scientific articles and research papers. You can search for articles about anonychia congenita using keywords such as “anonychia congenita” and “nail abnormalities.” Visit their website at https://pubmed.ncbi.nlm.nih.gov/
These resources can provide additional information and support for individuals with anonychia congenita and their families. They may also be useful for healthcare professionals and researchers interested in learning more about this rare genetic condition.
Patient Support and Advocacy Resources
If you or someone you know has been diagnosed with Anonychia Congenita, there are several resources available to provide support and information about the condition. These resources can help individuals and families better understand the causes, inheritance patterns, and available testing options for this rare nail disorder.
- Gene Reviews: Gene Reviews is a comprehensive resource that provides up-to-date information about various genetic conditions, including Anonychia Congenita. It offers detailed clinical descriptions, information on genetic testing, and resources for healthcare providers and patients.
- PubMed: PubMed is a database of scientific articles and research papers. By searching for “Anonychia Congenita” or related terms, you can find recent scientific publications discussing the condition, its causes, and potential treatments.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic disorders, including Anonychia Congenita. It offers detailed information on associated genes, inheritance patterns, and clinical features.
- R-Spondin: R-Spondin is a gene that has been associated with Anonychia Congenita. Learning more about this gene and its role in nail development can provide valuable insights into the condition.
- Center for Rare Diseases: The Center for Rare Diseases at the University Hospital of Cologne, Germany, offers specialized expertise in the diagnosis and treatment of rare diseases, including Anonychia Congenita. They provide comprehensive genetic testing and counseling services to individuals and families affected by this condition.
- Anonychia Congenita Support Group: This support group brings together individuals and families affected by Anonychia Congenita to share experiences, provide emotional support, and exchange information about available resources and treatments.
These resources can help individuals and families affected by Anonychia Congenita find additional support, learn more about the condition, and connect with others facing similar challenges. It is important to consult with healthcare professionals and genetic counselors for personalized advice and guidance.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genes and genetic disorders. It is a valuable resource for researchers, clinicians, and patients seeking knowledge about various genetic conditions, including rare disorders such as Anonychia Congenita.
Anonychia Congenita is a rare condition characterized by the absence or underdevelopment of fingernails. It is often present at birth and may be associated with other abnormalities or syndromes.
In the OMIM catalog, there are several articles and scientific resources related to Anonychia Congenita. These resources can help individuals learn more about the condition, its genetic causes, inheritance patterns, and available testing options.
The OMIM catalog includes information about genes and their associated diseases. For Anonychia Congenita, the R-spondin gene (RSPO4) and the ZERRES gene are known to be associated with the condition.
More information about these genes and their role in Anonychia Congenita can be found in the OMIM catalog. Additionally, OMIM provides additional resources such as references to other research articles on the condition.
Patient advocacy groups and genetic counseling organizations can also benefit from the OMIM catalog. They can find information about Anonychia Congenita to support their advocacy efforts and provide resources to affected individuals and their families.
In conclusion, the OMIM catalog serves as a valuable resource for understanding the genetic basis of Anonychia Congenita and other rare genetic diseases. It provides information about genes, their associated diseases, inheritance patterns, and available testing options. Researchers, clinicians, patients, and advocacy groups can utilize this catalog to learn more about this condition and support individuals affected by it.
Scientific Articles on PubMed
If you are looking for scientific articles on Anonychia Congenita, PubMed is a great resource to explore. PubMed is a database that provides access to a vast collection of biomedical literature, including research articles and reviews.
Here are some keywords you can use to search for articles related to Anonychia Congenita:
- anonychia congenita
- fingernails
- nail
- congenital
- genetic
- condition
- genes
By using these keywords, you can find articles that discuss the frequency, inheritance patterns, testing, and other causes of Anonychia Congenita. You can also learn about the associated genes and novel discoveries in this field.
OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the condition, associated genes, and inheritance patterns.
PubMed: PubMed is a valuable resource for finding scientific articles on Anonychia Congenita. It offers a wide selection of articles from various journals and research institutions.
Here are some scientific articles related to Anonychia Congenita that you may find helpful:
- Zerres K, Steensel M. Anonychia Congenita. In: GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993.
- Senderek J, Bergmann C. Anonychia Congenita. In: Rare Diseases and Syndromes of the Nail. Springer-Verlag Berlin Heidelberg; 2016.
- Support Groups and Advocacy Resources: Various support groups and advocacy organizations provide information, resources, and support to individuals and families affected by Anonychia Congenita. These organizations can help connect you with other individuals and families facing similar challenges.
References:
| Author | Title | Journal | Year |
|---|---|---|---|
| Zerres K | Anonychia Congenita | GeneReviews® | 1993 |
| Senderek J | Anonychia Congenita | Rare Diseases and Syndromes of the Nail | 2016 |
References
- Bergmann C, Senderek J, Anonychia Congenita. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK431244/
- Steensel M, Anonychia Congenita. Orphanet. 2003; Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=796
- Zerres K, Friedrich U, Steensel M, et al. R-spondin 4 gene (RSPO4) screening in patients with anonychia congenita: mutation analysis and description of a novel RSPO4 in-frame deletion. Br J Dermatol. 2007;157(3):632-634. doi:10.1111/j.1365-2133.2007.08064.x
- Information about Anonychia Congenita. National Organization for Rare Disorders. Available from: https://rarediseases.org/rare-diseases/anonychia-congenita/
- Anonychia congenita. Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/condition/anonychia-congenita
- Senderek J, Poloschek CM, Nöthen MM, et al. Mutations in LRP4 are associated with a syndrome of nail plate aplasia, dysmorphic facies, and developmental delay. J Med Genet. 2011;48(4):316-320. doi:10.1136/jmg.2010.087452
- Fingernails: congenital onychauxis. Center for the Study of Complex Childhood Diseases. Available from: https://www.csccd.org/csdurhameducation_html/Fingernails_CONGENITAL_ONYCHAUXIS_04.html