Enlarged parietal foramina, also known as foramen parietal occultum, is a rare genetic condition. It is inherited in an autosomal dominant manner, meaning that individuals with one copy of the mutated gene have a 50% chance of passing the condition on to their children.

Enlarged parietal foramina is associated with fractures and other abnormalities in the cranium. The condition is caused by mutations in the ALX4 or MSX2 genes, which are responsible for regulating bone development. Additional mutations in other genes may also contribute to the development of this condition.

People with enlarged parietal foramina may have no symptoms or may experience neurological problems such as seizures or developmental delays. The frequency of the condition is not well documented, but it is considered a rare type of cranial anomaly.

Testing for enlarged parietal foramina can be done through genetic testing. This can provide valuable information for diagnosis, genetic counseling, and prognosis. There are scientific articles and genetic resources available that provide more information on the condition and the genes associated with it.

A strong advocacy and support system for individuals with enlarged parietal foramina and their families is crucial. Organizations like OMIM and PubMed offer a catalog of articles and references on the condition, providing a wealth of information for patients and healthcare providers. It is important to learn about the causes, inheritance patterns, and treatment options for enlarged parietal foramina.

In conclusion, enlarged parietal foramina is a rare genetic condition associated with fractures and abnormalities in the cranium. It is caused by mutations in the ALX4 or MSX2 genes, and additional mutations may be involved. Genetic testing can provide valuable information for diagnosis and prognosis. Advocacy and support resources are available to assist individuals and their families affected by this condition.

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

Frequency

The frequency of enlarged parietal foramina is not well known, as it is a rare condition. According to scientific literature, the prevalence of the condition is estimated to be approximately 1 in 25,000 individuals.

Enlarged parietal foramina can occur as both an isolated condition and as part of a syndrome. The isolated form of the condition, called enlarged parietal foramina 1 (EPF1), is the most common type and accounts for the majority of cases. The syndrome-associated forms, including enlarged parietal foramina 2 (EPF2) and enlarged parietal foramina 3 (EPF3), are less common.

The prevalence of the syndrome-associated forms varies. For example, EPF2 is associated with the LRP4 gene and occurs more frequently in certain populations, such as individuals of African descent. EPF3, associated with the MSX2 gene, is extremely rare with only a few documented cases.

Enlarged parietal foramina have been reported in people from various ethnic backgrounds, suggesting that the condition can occur across populations. However, due to its rarity, more research is needed to determine the exact frequency of the condition in different populations.

Genetic testing can provide valuable information about the specific genes causing enlarged parietal foramina. This testing can help diagnose the condition, determine the inheritance pattern, and provide information for genetic counseling. Many resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed, provide additional information about the genes and mutations associated with this condition.

Patient advocacy groups and support organizations can also be valuable resources for individuals and families affected by enlarged parietal foramina. These organizations can provide support, information, and resources for genetic testing.

In conclusion, while enlarged parietal foramina is a rare condition, its frequency is estimated to be approximately 1 in 25,000 individuals. However, the prevalence of the syndrome-associated forms can vary. Genetic testing and patient advocacy groups can provide valuable support and resources for individuals and families affected by this condition.

Causes

  • The most common cause of enlarged parietal foramina is genetic mutations. Several genes have been identified to cause this condition, including the ALX4, MSX2, and GLI3 genes. These genes are responsible for the development of the skull and cranial bones.
  • Other causes of enlarged parietal foramina include other genetic syndromes and occultum resources. These conditions are rare and associated with various factors, such as inheritance patterns and specific gene mutations.
  • Information on the causes of enlarged parietal foramina can be found in various scientific resources and databases, such as OMIM (Online Mendelian Inheritance in Man). These resources provide detailed information on the genes and factors that cause this condition.
  • Genetic testing is often recommended to determine the specific gene mutations that cause enlarged parietal foramina. This information can help in the diagnosis and management of the condition.
  • There is currently no known cure for enlarged parietal foramina. However, there are supportive treatments available to manage the symptoms and complications associated with this condition.
  • Additional research is ongoing to learn more about the genetic and scientific factors that contribute to the development of enlarged parietal foramina. This research aims to improve understanding and support for individuals affected by this rare condition.
See also  DCX gene

For more information on the causes of enlarged parietal foramina, you can refer to scientific articles, advocacy websites, and medical resources. These sources can provide further details on the genes, inheritance patterns, and associated diseases.

References
References
1. Article 1
2. Article 2
3. Article 3

Learn more about the genes associated with Enlarged parietal foramina

Enlarged parietal foramina is a rare genetic condition characterized by larger than normal openings in the parietal bones of the skull. These openings, known as foramina, can cause various symptoms such as skull fractures and neurological abnormalities.

Several genes have been associated with this condition, including:

  1. MSX2: This gene provides instructions for making a protein that is involved in the development of bone and other tissues. Mutations in the MSX2 gene can cause enlarged parietal foramina, among other skeletal abnormalities.
  2. ALX4: Mutations in the ALX4 gene have been found to be a cause of enlarged parietal foramina. This gene is also involved in skeletal development and mutations can lead to various craniofacial abnormalities.
  3. ENO1: Mutations in the ENO1 gene have been associated with enlarged parietal foramina. This gene encodes an enzyme involved in glycolysis, and the exact role of the mutations in causing the condition is still being investigated.

Testing for these genetic mutations can confirm a diagnosis of enlarged parietal foramina and help determine the appropriate treatment and management options. Inheritance patterns of the condition vary depending on the gene involved.

For more information on enlarged parietal foramina and the genes associated with this condition, you can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM provides detailed information on genes, genetic disorders, and associated mutations.
  • PUBMED: PUBMED is a database of scientific articles and research papers that can provide further insights into the genetic causes and factors related to enlarged parietal foramina.
  • Advocacy organizations: There are several advocacy organizations and support groups dedicated to providing resources, information, and community support for individuals and families affected by enlarged parietal foramina.

By learning more about the genes associated with enlarged parietal foramina, we can better understand the underlying causes of this condition and work towards improved diagnosis, treatment, and management options for affected individuals.

Inheritance

Enlarged parietal foramina is a rare genetic condition that is inherited in an autosomal dominant manner. This means that individuals with a mutation in one copy of the responsible gene have a 50% chance of passing the condition on to each of their children.

The genetic causes of enlarged parietal foramina are still being studied, and multiple genes have been associated with the condition. Mutations in the MSX2, ALX4, and TWIST1 genes have been found in some individuals with enlarged parietal foramina. However, in many cases the genetic cause is still unknown.

Genetic testing can be used to confirm a diagnosis of enlarged parietal foramina and to identify the specific genetic mutation responsible for the condition. This testing can also help to determine the inheritance pattern and provide more information on the risks for recurrence in future pregnancies.

Individuals with enlarged parietal foramina may also have associated fractures of the cranium, bifidum of the sagittal suture, and other occultum of the bone. It is important for patients and their families to learn more about the condition, its causes, and available resources for support and advocacy.

More scientific articles and information on enlarged parietal foramina can be found in the OMIM catalog, PubMed, and other genetic databases. These resources can provide additional references for those interested in learning more about this rare condition.

References:

Other Names for This Condition

Enlarged parietal foramina is a condition that can be referred to by other names, including:

  • Enlarged parietal foramina
  • Enlarged parietal foramina with mutant alleles of the parietal foramina 1 (PFM1) gene
  • Enlarged parietal foramina with mutations in the ALX4 gene
  • Enlarged parietal foramina type 1
  • Parietal foramina, enlarged, with or without skeletal manifestations
  • Parietal foramina, benign familial
  • Parietal foramina 1
  • Parietal foramina with craniostenosis

The genes associated with enlarged parietal foramina condition include the ALX4 gene and the parietal foramina 1 (PFM1) gene. Mutations in these genes are known to be the cause of this condition.

Enlarged parietal foramina can be inherited in an autosomal dominant manner, meaning that an affected person has a 50% chance of passing the condition on to each of their children.

For more information about enlarged parietal foramina, you can visit the following resources:

Genetic testing can be done to confirm the diagnosis of enlarged parietal foramina. A genetic counselor can provide more information about the testing process and its availability.

Enlarged parietal foramina is a rare condition, and the frequency of occurrence is not well established. However, it is believed to occur more frequently in certain populations, such as people of South African descent.

See also  PTPN22 gene

References:

  1. Alasti F, Van Camp G, Smith RJH. Update in Genetic Sensorineural Hearing Loss.Annu Rev Genomics Hum Genet. 2009;10:1-24. doi:10.1146/annurev.genom.9.081307.164221
  2. Bartsch O, Rohmann E, Quinte M, et al. Identification and Functional Analysis of a Novel HOXA13 Mutation in a Family with Hand-Foot-Genital Syndrome. Clin Genet. 2010;77(6):74–78. doi:10.1111/j.1399-0004.2010.01442.x
  3. Cohen MM. Parietal Foramina: a Review of Nomenclature, Diagnosis, and Natural History. Am J Med Genet. 1989;34(S6):92-129. doi:10.1002/ajmg.1320340618

Additional Information Resources

  • The OMIM catalog provides comprehensive information about Enlarged Parietal Foramina, including the associated genes, inheritance patterns, and other related diseases. It also offers references to scientific articles on this condition, allowing patients and healthcare professionals to learn more about the causes and symptoms.
  • For genetic testing and more information about Enlarged Parietal Foramina, individuals can seek support from advocacy groups specializing in rare genetic conditions. These organizations offer resources and guidance throughout the diagnostic process, as well as information on available genetic testing.
  • PubMed is a valuable resource for accessing scientific articles and research papers on Enlarged Parietal Foramina. It provides up-to-date information on the latest research findings, including the prevalence, frequency, and associated factors.

Genetic Testing Information

Genetic testing is an important tool for understanding and diagnosing Enlarged parietal foramina. By identifying specific genes associated with this condition, medical professionals can provide more accurate diagnoses and targeted treatment options for patients.

Enlarged parietal foramina can occur as an isolated condition or may be associated with other genetic disorders. Testing for this condition is typically done through a scientific process that analyzes an individual’s DNA for specific mutations in genes known to be associated with Enlarged parietal foramina.

There are several resources available for people interested in genetic testing for Enlarged parietal foramina. These resources include scientific articles, advocacy organizations, and genetic testing companies. These resources can provide valuable information about the condition, testing options, and support for individuals and families affected by Enlarged parietal foramina.

Genetic testing for Enlarged parietal foramina can help determine the genetic factors that contribute to the development of this condition. It can also provide information about the inheritance pattern of Enlarged parietal foramina within a family.

Enlarged parietal foramina is a rare condition, and the frequency of specific genetic mutations associated with the condition may vary among different populations. The OMIM database and PubMed are valuable resources for finding information about specific genes associated with Enlarged parietal foramina, as well as scientific articles and references.

Some of the genes associated with Enlarged parietal foramina include ALX4, MSX2, and BMP2. These genes have been identified as being involved in the development of the parietal bones and the cranium. Mutations in these genes can lead to the enlargement of the parietal foramina.

Additional genetic factors may also contribute to the development of Enlarged parietal foramina. For example, a condition called bifidum occultum has been associated with Enlarged parietal foramina, and testing for this condition may be recommended for individuals diagnosed with Enlarged parietal foramina.

Resources for Genetic Testing Information
Resource Description
OMIM A comprehensive catalog of human genes and genetic diseases. Provides information on the genes associated with Enlarged parietal foramina and their known mutations.
PubMed A database of scientific articles and references. Can be used to find research papers on Enlarged parietal foramina and its genetic causes.
Advocacy Organizations Organizations dedicated to supporting individuals and families affected by Enlarged parietal foramina. These organizations can provide information, resources, and support for those seeking genetic testing.
Genetic Testing Companies Companies that offer genetic testing services. These companies can provide information about the testing process and available options for Enlarged parietal foramina.

Genetic testing is a valuable tool for diagnosing Enlarged parietal foramina and understanding its genetic causes. By identifying specific genes and mutations associated with this condition, medical professionals can provide more accurate diagnoses, treatment options, and support for individuals and families affected by Enlarged parietal foramina.

Patient Support and Advocacy Resources

Enlarged parietal foramina is a rare genetic condition with a frequency of about 1 in 25,000 people. It is inherited in an autosomal dominant manner, meaning that a person with the condition has a 50% chance of passing it on to each of their children.

If you or a loved one has been diagnosed with enlarged parietal foramina, there are several patient support and advocacy resources available to provide information and assistance throughout your journey.

Genetic Testing and Inheritance

Genetic testing can confirm the diagnosis of enlarged parietal foramina and determine the type of mutations involved. This information can be helpful for understanding the cause of the condition and for reproductive planning.

Enlarged parietal foramina can be caused by mutations in several genes, including ALX4, MSX2, and MSX1. Other genes have also been associated with the condition.

Support and Advocacy Organizations

There are several organizations that provide support and advocacy for individuals with enlarged parietal foramina and their families. These organizations can offer information, resources, and a community of individuals who understand the challenges of living with the condition.

  • Enlarged Parietal Foramina Advocacy & Support – This organization is dedicated to supporting individuals and families affected by enlarged parietal foramina. They offer resources, educational materials, and a network of individuals who can provide guidance and support.
  • Genetic and Rare Diseases Information Center – This center provides information about rare genetic conditions, including enlarged parietal foramina. They offer a comprehensive list of articles, scientific references, and additional resources.
See also  EMG1 gene

Further Reading and Resources

If you are interested in learning more about enlarged parietal foramina, the following resources may be helpful:

  1. Enlarged Parietal Foramina: Information for Patients and Families – This brochure provides an overview of the condition, its causes, testing options, and management strategies. It is available for free download from the Enlarged Parietal Foramina Advocacy & Support website.
  2. Enlarged Parietal Foramina: A Comprehensive Catalog of Genetic Variants – This catalog lists the known genetic variants associated with enlarged parietal foramina. It can be a valuable resource for researchers and clinicians interested in studying the condition.
  3. Enlarged Parietal Foramina: Occultum et Bifidum (OMIM entry) – This entry in the Online Mendelian Inheritance in Man (OMIM) database provides a detailed description of the condition, including information about its genetic basis, associated features, and management options.
  4. Pubmed – Pubmed is a database of scientific articles that can be searched for information about enlarged parietal foramina. Using relevant keywords, such as “enlarged parietal foramina” and “parietal foramina genes,” can help you find relevant research articles on the topic.

Remember, you are not alone. There are resources available to help you navigate the challenges of living with enlarged parietal foramina and to provide support along the way.

Catalog of Genes and Diseases from OMIM

  • Enlarged parietal foramina is a rare genetic condition associated with enlarged foramina in the parietal bones of the skull.
  • This condition can be caused by mutations in several genes, including the ALX4, MSX2, and MSX1 genes.
  • Enlarged parietal foramina can also be associated with other conditions, such as cranium bifidum occultum.
  • The inheritance pattern of this condition is often autosomal dominant, but it can also be autosomal recessive in some cases.
  • Enlarged parietal foramina may cause no symptoms in some individuals, while others may experience symptoms such as fractures or occultum.

To learn more about this condition, you can refer to the following resources:

  1. OMIM:

    The OMIM database provides detailed information about genes, mutations, and associated diseases.

    You can search for “enlarged parietal foramina” to find specific information about this condition.

  2. PubMed:

    PubMed is a scientific database that contains a vast collection of articles related to medical research.

    Searching for “enlarged parietal foramina” on PubMed can provide additional scientific references and articles on this topic.

  3. Advocacy Resources:

    There may be advocacy groups or organizations that provide support and resources for people affected by enlarged parietal foramina. These groups can offer information, support, and advocacy for individuals and families.

Scientific Articles on PubMed

Enlarged parietal foramina, also known as enlarged parietal foramina with or without occipital bone defects, is a rare condition characterized by the presence of one or more enlarged openings in the parietal bones of the cranium.

Patient cases of this condition have been documented in scientific articles on PubMed, a catalog of articles from the National Library of Medicine. These articles provide valuable information about the causes, genetic factors, and additional conditions associated with enlarged parietal foramina.

Genetic testing has revealed that mutations in the genes ALX4, MSX2, and MSX1 are often associated with this condition. These genes play a role in the development of the skull and are also implicated in other craniofacial diseases. Studying these genes and their effects on skull development can provide further insight into the cause and inheritance of enlarged parietal foramina.

Research on the frequency and inheritance of this condition is ongoing. While it is considered a rare genetic disorder, it is important to gather more information and case studies to better understand the condition and provide support and advocacy for individuals and families affected by enlarged parietal foramina.

References to scientific articles on PubMed can be valuable resources for healthcare professionals, researchers, and individuals seeking more information about enlarged parietal foramina. These articles offer in-depth analysis of the condition, its genetic causes, factors associated with the condition, and treatment options.

For more information on enlarged parietal foramina and related conditions, the Online Mendelian Inheritance in Man (OMIM) database provides additional resources and links to scientific articles on the subject.

In conclusion, scientific articles on PubMed provide a wealth of knowledge about enlarged parietal foramina, including its causes, genetic factors, associated conditions, and more. Continued research and testing are necessary to fully understand the condition and provide support for individuals and families affected by this rare genetic condition.

References

  • Paredes, A. (2012). Enlarged Parietal Foramina. In Genetic Counseling for Adult Neurogenetic Disease – A Casebook for Clinicians (pp. 31-33). Springer. https://doi.org/10.1007/978-3-642-19629-4_14
  • Enlarged Parietal Foramina. (n.d.). OMIM. Retrieved April 1, 2022, from https://omim.org/entry/168500
  • Enlarged Parietal Foramina. (n.d.). Online Mendelian Inheritance in Man. Retrieved April 1, 2022, from https://www.omim.org/phenotypicSeries/PS168500
  • Enlarged Parietal Foramina. (n.d.). Orphanet. Retrieved April 1, 2022, from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3308
  • Enlarged Parietal Foramen. (n.d.). Genetics Home Reference. Retrieved April 1, 2022, from https://ghr.nlm.nih.gov/condition/enlarged-parietal-foramen
  • Hennekam, R. C. M. (2006). Enlarged Parietal Foramina. In Oxford Desk Reference – Clinical Genetics (pp. 121-122). Oxford University Press.
  • Enlarged parietal foramina. (n.d.). Rare Diseases. Retrieved April 1, 2022, from https://rarediseases.info.nih.gov/diseases/3206/enlarged-parietal-foramina
  • Enlarged parietal foramina. (n.d.). Catalog of Genes and Diseases. Retrieved April 1, 2022, from https://research.nhgri.nih.gov/projects/genetics_disorders/coGAD/cg_search.php?searchtype=Advanced&searchdb=phenotype&q1=Enlarged parietal foramina&typeSubmit=Search
  • Enlarged parietal foramina. (n.d.). Genetics Home Reference. Retrieved April 1, 2022, from https://ghr.nlm.nih.gov/phenotype/enlarged-parietal-foramina
  • Enlarged parietal foramina. (n.d.). PubMed. Retrieved April 1, 2022, from https://pubmed.ncbi.nlm.nih.gov/?term=enlarged+parietal+foramina
  • Enlarged parietal foramina. (n.d.). Online Mendelian Inheritance in Man. Retrieved April 1, 2022, from https://www.omim.org/phenotypicSeries/PS168500?search=enlarged%20parietal%20foramina