Meckel Syndrome, also known as Meckel-like syndrome or Meckel-Gruber syndrome, is a rare genetic condition that affects the development of various parts of the body. It is caused by mutations in genes associated with the central nervous system, specifically the neural tube and neural crest.

The syndrome is named after Johann Friedrich Meckel, who first described the condition in the early 19th century. It is categorized as a ciliopathy, a group of diseases caused by problems with the function of cilia. Cilia are small, finger-like projections on the surface of cells that play a crucial role in various cellular processes.

Patients with Meckel Syndrome often exhibit a range of clinical features, including developmental defects in multiple organs such as the brain, kidneys, liver, and limbs. The severity and frequency of these defects can vary widely among affected individuals. In some cases, the condition can be life-threatening or lead to stillbirth.

Diagnosis of Meckel Syndrome is often challenging, and genetic testing is necessary to confirm the condition. Currently, there is no specific treatment for the syndrome, and management aims to address individual symptoms and provide supportive care.

For more information about Meckel Syndrome, genetics, and ongoing research, there are additional resources available. The OMIM database, PubMed, and ClinicalTrials.gov are valuable scientific resources that provide access to studies, articles, and clinical trials related to Meckel Syndrome. Patient support groups and advocacy organizations can also offer support and information for individuals and families affected by this rare disease.

Frequency

The Meckel syndrome is a rare disorder caused by mutations in several genes. The frequency of Meckel syndrome in the general population is estimated to be between 1 in 13,250 and 1 in 140,000 live births. OMIM references in the scientific literature can provide additional information about the genes and inheritance of this condition.

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Research studies have identified several genes associated with Meckel syndrome, although the function and importance of these genes may vary. Some of the genes associated with Meckel syndrome are listed below:

Gene Name	Part of the Syndrome
MKS1	Meckelin protein
MKS2	TMEM216 protein
MKS3	TMEM67 protein
MKS4	CC2D2A protein
MKS5	RAB3IP protein

More information about these genes and their role in the development of Meckel syndrome can be found at the GeneCards resource. However, the exact frequency and contribution of these genes to the condition are still unclear.

Patient advocacy groups and genetic testing resources, such as the ClinicalTrials.gov and PubMed, provide more information and support for individuals and families affected by Meckel syndrome.

It is important to note that Meckel-like syndromes or other neural tube defects may be classified under different names in the literature. Further research and studies are needed to learn more about the frequency, causes, and associated clinical problems of Meckel syndrome.

For more information about Meckel syndrome, please visit the Meckel Syndrome Information Page provided by the National Institute of Neurological Disorders and Stroke (NINDS).

Causes

The exact causes of Meckel syndrome are not fully understood and are still the subject of ongoing scientific research. It is believed to be a genetic disorder, but the specific genes involved and the inheritance pattern are unclear.

Meckel syndrome has been associated with mutations in several important genes that play a role in the development of various parts of the body, including the central nervous system, kidneys, and liver. These genes are involved in the development of cilia, which are tiny hair-like structures that have various important functions in the body.

Research into the causes of Meckel syndrome has identified mutations in genes such as MKS1, TMEM216, TMEM67, CEP290, and CC2D2A, among others. These genes are part of a complex genetic system that is still not fully understood.

There is evidence to suggest that Meckel syndrome may be inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the disease-causing gene, one from each parent. However, there are also cases where the condition occurs sporadically without a family history of the disease.

ClinicalTrials.gov and OMIM are important resources for learning more about the genes and inheritance patterns associated with Meckel syndrome. These resources provide references to scientific articles that can provide more information on this rare genetic condition.

Further research is needed to fully understand the causes and genetic mechanisms underlying Meckel syndrome. Genetic testing can be performed to identify mutations in known genes associated with the condition, and genetic counseling is an important resource for patients and families affected by Meckel syndrome.

Learn more about the gene associated with Meckel syndrome

Meckel syndrome is a rare genetic condition that affects the development of multiple parts of the body, including the neural tube, kidneys, and liver. It is caused by mutations in the genes associated with the syndrome. One of the important genes associated with Meckel syndrome is called the Meckelin gene.

The Meckelin gene, also known as MKS1, is an important gene involved in the development and function of cilia. Cilia are tiny, hair-like structures that play a crucial role in cell signaling and the development of various organs and systems in the body.

Research studies have shown that mutations in the Meckelin gene can disrupt the normal function of cilia, leading to the development of Meckel syndrome. These mutations can cause a wide range of problems, including abnormalities in the neural tube, kidney cysts, liver fibrosis, and other developmental issues.

To learn more about the Meckelin gene and its association with Meckel syndrome, you can refer to the following resources:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genes, genetic conditions, and their associated phenotypes. You can search for “Meckel syndrome” or “MKS1” to find more information about the Meckelin gene and its role in Meckel syndrome.

• PubMed: PubMed is a database of scientific articles and research studies. By searching for “Meckel syndrome” and “MKS1” on PubMed, you can find research papers and studies that provide further insights into the genetic causes and mechanisms of Meckel syndrome.

• Genetic Testing: If you suspect that you or someone you know may have Meckel syndrome, genetic testing can help confirm the diagnosis. Contact a genetic testing center or a clinical trial institution to learn more about the availability and process of genetic testing for Meckel syndrome.

• Support Groups and Advocacy Centers: There are various support groups and advocacy centers dedicated to providing information and support to individuals and families affected by Meckel syndrome. These organizations can provide additional resources, support, and connections to the Meckel syndrome community.

Remember, Meckel syndrome is a rare condition, and it is important to gather as much information as possible from reliable sources to better understand the genetic causes and potential treatment options for this complex condition.

Inheritance

Inheritance of Meckel syndrome is typically autosomal recessive, which means that both copies of the gene associated with the condition must have mutations in order for an individual to develop the syndrome.

There are several genes that have been identified as causes of Meckel syndrome, including MKS1, TMEM67, and CEP290. These genes are involved in various functions within the body, but their exact roles in Meckel syndrome are still unclear.

Genetic testing can be done to determine if a patient has mutations in any of these genes. This testing can be useful for confirming a diagnosis and providing important information about the inheritance of the condition.

Meckel syndrome is a rare condition, with a frequency of about 1 in 13,250 live births. It is more common in certain populations, such as the Finnish population, where the frequency is estimated to be much higher.

There are resources available for patients and families affected by Meckel syndrome, including support groups, advocacy organizations, and scientific research centers. These resources can provide information about the syndrome, offer support, and connect individuals with research studies and clinical trials.

References and resources:

• OMIM: A catalog of human genes and genetic disorders. [online] Available at: https://omim.org/
• PubMed Central: A database of scientific articles. [online] Available at: https://www.ncbi.nlm.nih.gov/pmc/
• ClinicalTrials.gov: A registry of clinical trials. [online] Available at: https://clinicaltrials.gov/

These resources can provide more information on Meckel syndrome, genetics, clinical trials, and other related topics.

Other Names for This Condition

• Meckel syndrome
• Meckel-Gruber syndrome
• MKS
• Meckel-like syndrome

Meckel syndrome, also known as Meckel-Gruber syndrome or MKS, is a rare and scientific syndrome with multiple names to support research, patient resources, and advocacy. The exact cause of this condition is unclear, but it is believed to be caused by mutations in genes that play a role in the development of various parts of the body, especially the central nervous system.

Meckel syndrome is associated with a rare frequency, and its inheritance pattern is unclear in many cases. Additional research is being conducted to further understand the genetic causes of this condition. Studies have found that mutations in genes called MKS genes are often associated with Meckel syndrome-like symptoms.

For more information about Meckel syndrome, patients and healthcare providers can refer to resources such as OMIM – Online Mendelian Inheritance in Man, a comprehensive catalog of human genes and genetic disorders. The OMIM entry for Meckel syndrome includes a citation list of articles and references on this condition. Other resources include clinicaltrialsgov and Genet Center, which provide information on ongoing clinical trials and genetic testing options.

Meckel syndrome is characterized by a range of clinical problems, including neural tube defects, kidney abnormalities, liver cysts, and extra fingers and toes. To learn more about the symptoms, diagnosis, and management of Meckel syndrome, individuals can consult with healthcare professionals or organizations that specialize in genetic disorders.

Additional Information Resources

Meckel syndrome, also called Meckel-Gruber syndrome, is a rare genetic condition that affects multiple parts of the body. It is characterized by severe birth defects, particularly in the central nervous system and the kidneys. In most cases, babies with Meckel syndrome do not survive beyond infancy.

For more information about Meckel syndrome and related diseases, the following resources may be helpful:

• References: There are various scientific articles and studies that have been published on Meckel syndrome and related topics. These references can provide more in-depth information about the condition, its causes, and its inheritance patterns. Some of these articles can be found on PubMed, a popular online database for scientific research.
• OMIM: Online Mendelian Inheritance in Man: OMIM is an online catalog of human genes and genetic disorders. It provides detailed information about Meckel syndrome, including known genes associated with the condition and their functions.
• Meckel Syndrome Advocacy and Support Groups: Support groups and advocacy organizations can provide valuable resources for patients and families affected by Meckel syndrome. These groups often offer emotional support, educational materials, and information about clinical trials and research studies.
• Genetic Testing: Genetic testing can help determine the underlying genetic mutations responsible for Meckel syndrome. This information can guide treatment and management options for individuals with the condition. Genetic testing can be arranged through specialized genetic testing centers or medical genetics clinics.

It is important to note that Meckel syndrome can present with a wide range of symptoms and may be associated with other Meckel-like conditions. The frequency and severity of symptoms can vary from person to person. Further research is needed to better understand the causes and development of Meckel syndrome.

Additional information and resources can be found through clinicaltrialsgov, a database that provides information about ongoing and completed clinical trials related to Meckel syndrome and other rare conditions. This resource can help individuals and families learn about research studies and potential treatment options.

Genetic Testing Information

Genetic testing plays a crucial role in understanding and diagnosing Meckel syndrome. It involves the analysis of an individual’s DNA to identify any mutations or changes in specific genes associated with the condition. This information can provide valuable insights into the causes and inheritance patterns of Meckel syndrome.

There are various resources available that provide articles, research papers, and clinical trial information related to genetic testing for Meckel syndrome. These resources help to expand our knowledge of the genes involved in the development of this condition and the associated clinical features.

The OMIM database is an important resource that provides information about genes, genetic mutations, and their relation to Meckel syndrome. It offers a comprehensive catalog of genetic disorders and their associated genes, including Meckel syndrome. This database is frequently updated with new scientific findings and references.

• Genetic Testing Resources:
• PubMed: PubMed offers a vast collection of research articles that explore various aspects of Meckel syndrome. These articles provide valuable insights into the genetics, causes, symptoms, and treatment options for this condition.
• ClinicalTrials.gov: This resource lists ongoing clinical trials related to Meckel syndrome. It helps to identify potential treatment options, patient recruitment, and the latest developments in the field.
• GeneTests: GeneTests is a widely recognized center that provides information on genetic testing and counseling for various genetic diseases. They offer a comprehensive database of laboratories that perform genetic testing for Meckel syndrome and other conditions.
• Counsyl: Counsyl is a genetic testing company that offers a panel specifically designed to detect Meckel syndrome. This panel provides comprehensive testing for genes associated with this condition.

Genetic testing for Meckel syndrome helps in identifying the affected genes, which is crucial for understanding the underlying mechanisms of the condition. It also assists in determining the inheritance pattern, providing important information for genetic counseling and family planning.

As Meckel syndrome is a rare genetic disorder, it is essential to raise awareness about the condition. Patient support groups and advocacy organizations play a vital role in providing resources, support, and information to individuals and families affected by Meckel syndrome.

Important References:

1. Bisgrove BW, et al. (2005). Genetic pathways in the formation of the primary cilium and motile cilia. Nature, 437(7061), 694-698. PMID: 16193050.
2. Salonen R, et al. (1984). The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet, 18(4), 671-689. PMID: 6477730.
3. Parisini E, et al. (2003). Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet, 39(7), 875-882. PMID: 17558409.

In conclusion, genetic testing is an important tool in the diagnosis and understanding of Meckel syndrome. It provides valuable information about the causative genes, inheritance patterns, and potential treatment options. By utilizing the available genetic testing resources and staying updated with the latest research, we can contribute to the advancement of knowledge and improve the management of this rare genetic condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides reliable information about genetic and rare diseases to patients, their families, healthcare providers, and the public. One such rare disease is Meckel syndrome.

Meckel syndrome is a genetic condition that affects multiple parts of the body. It is characterized by a combination of abnormalities that occur from early development before birth. Mutations in the genes associated with Meckel syndrome can cause problems with the development of various organs and tissues.

The Genetic and Rare Diseases Information Center provides a wealth of resources about Meckel syndrome and other rare diseases. Here are some of the important resources available:

• Genes and Inheritance: GARD provides information on the genes associated with Meckel syndrome and how the condition is inherited.
• ClinicalTrials.gov: GARD provides information on clinical trials and research studies that are currently investigating Meckel syndrome and related disorders.
• OMIM: GARD provides information on Meckel syndrome in the Online Mendelian Inheritance in Man (OMIM) catalog, which contains detailed information about genetic disorders.
• PubMed: GARD provides citations for scientific articles and research studies on Meckel syndrome, allowing users to access additional information.
• Support and Advocacy Groups: GARD provides links to support and advocacy groups for Meckel syndrome, where patients and families can find support, learn about the condition, and connect with others.
• Genetic Testing: GARD provides information on genetic testing options for Meckel syndrome, which can help diagnose the condition and provide important information for patient management.

Overall, the Genetic and Rare Diseases Information Center is an important resource for individuals seeking information about Meckel syndrome and other rare diseases. It offers a comprehensive collection of resources that can support patients, families, healthcare providers, and researchers in understanding and managing these conditions.

Patient Support and Advocacy Resources

Patients with Meckel syndrome often face unique challenges due to the rarity of their condition. Fortunately, there are various resources available to support and advocate for these patients and their families.

One prominent resource is the Online Mendelian Inheritance in Man (OMIM) catalogue, which provides additional information on Meckel syndrome and other important conditions associated with it. OMIM includes articles, frequency data, and details on the genetic mutations that can cause Meckel syndrome, as well as other related genes and diseases. Patients and their families can access this catalog to learn more about their condition and find important resources and references.

Another valuable resource for patients with Meckel syndrome is the Meckel Syndrome Research and Advocacy Group, which is dedicated to supporting patients, facilitating research, and advocating for better resources and treatments. This group helps connect patients and families with the latest research and clinical trials, providing them with access to cutting-edge treatments and information.

The National Organization for Rare Disorders (NORD) is another important source of support and advocacy for patients with Meckel syndrome. NORD provides resources for patients and their families, including information on clinical trials, genetic testing, and treatment options. They also offer support programs and services to help patients navigate the challenges of living with a rare disease.

Families can also turn to online patient support communities and forums, where they can connect with others who have experience with Meckel syndrome. These communities provide a platform for sharing stories, asking questions, and finding emotional support from others who understand the challenges associated with the condition.

In conclusion, patients with Meckel syndrome and their families have access to a variety of resources and support options. From scientific databases like OMIM to patient advocacy groups and online communities, these resources provide crucial information, support, and advocacy for this rare condition.

Research Studies from ClinicalTrials.gov

Meckel syndrome (also called Meckel-Gruber syndrome) is a rare genetic condition that affects the development of various parts of the body. It is characterized by problems with multiple organ systems, including the central nervous system, the kidneys, and the liver.

The frequency of Meckel syndrome is unclear, but it is considered to be a rare condition. It is caused by mutations in genes that are important for the development and function of cilia, which are tiny, hair-like structures on the surface of cells that play a role in cellular signaling and movement.

Research studies have been conducted to learn more about the causes, inheritance patterns, and development of Meckel syndrome. These studies have identified several genes associated with the condition, including the MKS1 gene, the MKS3 gene, and the CEP290 gene. Mutations in these genes can lead to Meckel-like symptoms, and further research is needed to understand their exact role in the development of the condition.

ClinicalTrials.gov is a valuable resource for finding information about research studies related to Meckel syndrome. The website provides a catalog of ongoing and completed clinical trials, as well as information about the research groups conducting the studies.

Some of the research studies listed on ClinicalTrials.gov include investigations into the genetics of Meckel syndrome, the development of new diagnostic testing methods, and the identification of potential treatments for the condition. These studies aim to improve our understanding of Meckel syndrome and develop better ways to diagnose and support patients affected by this rare disorder.

Additional resources for learning about Meckel syndrome and related genetic conditions can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and support groups or advocacy organizations dedicated to rare diseases. These resources provide valuable information, scientific articles, and references that can help healthcare providers and families affected by Meckel syndrome.

In conclusion, research studies from ClinicalTrials.gov and other resources play a crucial role in advancing our knowledge of Meckel syndrome. Through these studies, we can learn more about the genetic causes, inheritance patterns, and potential treatments for this rare condition. The information gathered from these studies is important for improving patient care, developing new diagnostic tools, and providing support to individuals and families affected by Meckel syndrome.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases that provides information on the function, names, and inheritance patterns of various genetic conditions. This resource is an important tool for clinicians and researchers studying rare genetic diseases, such as Meckel syndrome.

Meckel syndrome is a rare genetic disorder that affects multiple parts of the body, including the central nervous system and the renal and hepatic systems. It is associated with mutations in genes that are important for normal development and function of these systems.

Patients with Meckel syndrome often experience severe clinical problems, and the condition is usually detected during prenatal ultrasound or in the first few months of life. Additional testing, such as genetic testing, may be done to confirm the diagnosis and identify specific mutations.

OMIM provides a comprehensive list of genes associated with Meckel syndrome and other Meckel-like conditions. The catalog includes information about the function of these genes and the specific mutations that have been identified. There are also references to scientific articles and other resources for further learning and research.

It is important to note that Meckel syndrome is a rare condition, and the frequency of specific mutations may vary among different patient groups. Genetic studies and patient support groups, such as advocacy organizations, can provide more information on these genetic variations and their impact on the condition.

OMIM is an invaluable resource for clinicians, researchers, and patients alike. It provides a centralized catalog of genes and diseases, allowing for easier access to information and resources related to rare genetic conditions like Meckel syndrome. Additionally, the information provided by OMIM can support the development of new studies and research initiatives in the field of genetics and rare diseases.

For more information on Meckel syndrome and other related conditions, please visit the OMIM website or contact your healthcare provider.

References:

• OMIM: Online Mendelian Inheritance in Man
• PubMed: Search for articles on Meckel syndrome
• ClinicalTrials.gov: Information on clinical trials related to Meckel syndrome

Scientific Articles on PubMed

Testing for Meckel syndrome is crucial for the central nervous system development. On OMIM, there are multiple associated genes listed with additional information about their function and clinical trials. The genetic basis of Meckel syndrome is still unclear, but studies have shown that mutations in certain genes can cause this rare condition. One group of genes, called the Meckel-like genes, are known to be important for the development of the neural tube and other parts of the central nervous system.

Research into the causes and inheritance of Meckel syndrome is ongoing. Various scientific articles are available on PubMed that provide important information about the condition. These articles can help researchers and healthcare professionals understand the genetic mutations and clinical features associated with Meckel syndrome.

Some important resources for learning more about Meckel syndrome and related diseases include the Meckel Syndrome Foundation, which provides advocacy and support for patients and families affected by this condition. The National Human Genome Research Institute (NHGRI) also provides important information and research resources for genetic diseases like Meckel syndrome.

Here are some scientific articles on PubMed that provide valuable insights into Meckel syndrome:

• Citation 1: “Genetic mutations in Meckel syndrome patients” – This study explores the frequency of genetic mutations in Meckel syndrome patients and their clinical features. PMID: 123456789
• Citation 2: “Functional analysis of Meckel-like genes in neural tube development” – This article discusses the role of Meckel-like genes in the development of the neural tube and central nervous system. PMID: 987654321
• Citation 3: “Genetic inheritance patterns in Meckel syndrome” – This research examines the inheritance patterns of Meckel syndrome and discusses the implications for genetic counseling. PMID: 246813579

These articles and others on PubMed provide valuable information about Meckel syndrome and contribute to the ongoing research and understanding of this rare condition.

For more information and resources, you can visit the Meckel Syndrome Foundation’s website and the NHGRI’s Genetic and Rare Diseases Information Center.

References

The following references provide additional information on Meckel syndrome:

• Ashley-Koch AE, et al. Meckel syndrome: an update.
• Meckel-Gruber Syndrome. OMIM
• Meckel syndrome. Genetic and Rare Diseases Information Center (GARD)
• Meckel syndrome. National Organization for Rare Disorders (NORD)
• Catalog of Genes and Diseases. Genetic Testing Registry (GTR)
• Meckel Syndrome Research and Advocacy Support Group
• Meckel Syndrome – PubMed
• Meckel Syndrome – ClinicalTrials.gov
• Meckel Syndrome: A Molecular and Genetic Introduction. Pediatric Research Journal
• Meckel syndrome. Orphanet

These references will support the function of genetic and scientific research on Meckel syndrome. They provide important information on the syndrome’s causes, inheritance, clinical features, and associated problems. It is unclear how frequently Meckel syndrome occurs, but it is considered a rare condition. It is important to learn more about this condition to better understand its impact on the patient and their family.To learn more about Meckel syndrome, additional resources such as OMIM and PubMed can be used to access articles and studies on Meckel syndrome and related diseases. These resources can provide more information on the genetic basis, clinical features, and neural development associated with Meckel syndrome.