Weill-Marchesani syndrome (WMS) is a rare genetic condition characterized by short stature, joint stiffness, and distinctive facial features. It is caused by mutations in one of two genes: ADAMTS10 or FBN1. ADAMTS10 is involved in the processing and assembly of proteins that make up the connective tissue, while FBN1 provides instructions for making a protein called fibrillin-1. Both proteins are important for the normal development and function of connective tissue throughout the body.

WMS affects connective tissue in various parts of the body, including the skeletal system, eyes, and cardiovascular system. Connective tissue is the structural support for organs, tissues, and cells. It provides strength and flexibility to structures such as bones, cartilage, and blood vessels.

The signs and symptoms of WMS can vary widely from person to person, even among individuals with the same gene mutation. Some people have mild forms of the condition while others have more severe involvement. The severity of WMS can range from a few minor physical differences to life-threatening complications. The range and severity of symptoms can make it difficult for doctors to diagnose the condition.

Testing for WMS is available through specialized genetic testing centers. Testing can help confirm a diagnosis, identify carriers of the condition, and provide information on the specific gene mutation present in an individual. Genetic testing can be done using a blood or tissue sample, and the results can take several weeks to be reported. Testing can be costly, so it is important to check with insurance providers to determine coverage and associated costs.

For more information about Weill-Marchesani syndrome, genetic testing, and support resources, patients and their families can turn to organizations such as the Weill-Marchesani Syndrome Registry and Advocacy Center, which provides a comprehensive catalog of scientific articles, patient resources, and additional support. The OMIM and PubMed databases also offer valuable references and scientific articles about this genetic condition. Learning about the genes associated with WMS can help patients and their families understand the causes and inheritance patterns of this rare disease.

Frequency

The Weill-Marchesani syndrome is a rare connective tissue condition that is associated with mutations in several genes. The exact frequency of the syndrome is not well established, but it is considered to be a rare condition.

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There have been several genes identified that can cause Weill-Marchesani syndrome. These genes include ADAMTS10 and ADAMTS17. Mutations in these genes affect the production or function of a protein involved in the formation of connective tissue. Other genes, such as FBN1 and LTBP2, have also been associated with the syndrome.

Genetic testing is available for individuals suspected of having Weill-Marchesani syndrome. This testing can help confirm a diagnosis and identify the specific gene mutation causing the condition. Genetic testing may be done on blood or other tissue samples, and instructions for testing can be found through genetic testing centers or medical professionals.

Support and advocacy resources are available for individuals and families affected by Weill-Marchesani syndrome. These resources can provide additional information, connect individuals with support groups, and offer guidance on managing the condition. The Weill-Marchesani Syndrome Patient Registry is a valuable resource for connecting with other patients and accessing scientific articles, OMIM entries, and other references related to the condition.

Information on the frequency of the condition can vary depending on the source. Scientific articles and databases like PubMed, OMIM, and the Weill-Marchesani Syndrome Patient Registry provide more information on the range of the syndrome and the genes associated with it. However, due to the rarity of the condition, reliable data on the exact frequency of Weill-Marchesani syndrome is limited.

In summary, Weill-Marchesani syndrome is a rare genetic condition with a range of associated genes. Genetic testing is available for diagnosis and identification of the causative gene mutation. Support and advocacy resources can provide additional information and connect individuals with others affected by the condition.

Causes

The exact causes of Weill-Marchesani syndrome are not fully understood, but research suggests that it is typically associated with genetic mutations. Several genes have been found to be involved in this condition.

  • FBN1 Gene: Mutations in the FBN1 gene are the most common cause of Weill-Marchesani syndrome. This gene provides instructions for making a protein called fibrillin-1, which is essential for the formation of connective tissue.
  • ADAMTS17 Gene: Mutations in the ADAMTS17 gene have been identified in a small number of individuals with Weill-Marchesani syndrome. This gene provides instructions for making a protein involved in the development and maintenance of connective tissue.

The inheritance pattern of Weill-Marchesani syndrome varies depending on the specific genetic mutation involved.

  • Autosomal Recessive Inheritance: In some cases, Weill-Marchesani syndrome is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Individuals with only one mutated gene are called carriers and typically do not experience any symptoms.
  • Autosomal Dominant Inheritance: In other cases, Weill-Marchesani syndrome is inherited in an autosomal dominant pattern. This means that an individual only needs to inherit one copy of the mutated gene from either parent to develop the condition.
See also  C3 gene

It is important to note that not all cases of Weill-Marchesani syndrome are caused by mutations in the FBN1 or ADAMTS17 genes. Additional genetic and environmental factors may also play a role in the development of this condition.

For more information on the specific genes associated with Weill-Marchesani syndrome, genetic testing, and available resources, the following websites and articles may provide further insight:

  1. Genetics Home Reference
  2. PubMed
  3. OMIM (Online Mendelian Inheritance in Man)
  4. Connective Tissue Gene Tests
  5. Gorlin Syndrome Advocacy, Resources & Support

Learn more about the genes associated with Weill-Marchesani syndrome

Weill-Marchesani syndrome is a rare genetic condition that affects connective tissue. It is characterized by short stature, skeletal abnormalities, and distinctive facial features. There are two genes that are known to be associated with Weill-Marchesani syndrome:

  • FBN1 gene: This gene provides instructions for making a protein called fibrillin-1. Mutations in the FBN1 gene can cause Weill-Marchesani syndrome. The FBN1 gene is also associated with other genetic diseases, such as Marfan syndrome and acromicric dysplasia. More information on the FBN1 gene can be found in the Genetic Testing Registry and OMIM.
  • ADAMTS10 gene: This gene provides instructions for making a protein called ADAMTS10. Mutations in the ADAMTS10 gene can also cause Weill-Marchesani syndrome. The ADAMTS10 gene is also associated with a condition called geleophysic dysplasia. More information on the ADAMTS10 gene can be found in the Genetic Testing Registry and OMIM.

Both of these genes are involved in the formation and maintenance of connective tissue. Mutations in these genes can disrupt the structure and function of connective tissue, leading to the signs and symptoms of Weill-Marchesani syndrome.

Genetic testing can be done to confirm a diagnosis of Weill-Marchesani syndrome. This testing can identify mutations in the FBN1 or ADAMTS10 genes. The Weill-Marchesani Syndrome Patient Registry provides support and resources for patients and their families. They also provide information on genetic testing and advocacy for Weill-Marchesani syndrome.

For more information on Weill-Marchesani syndrome and the genes associated with it, you can refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man database provides information on the genetic causes of Weill-Marchesani syndrome and other genetic diseases. It includes references to scientific articles and other resources.
  • Genetic Testing Registry: This registry provides information on genetic tests available for Weill-Marchesani syndrome and other genetic conditions. It includes information on the genes tested, the frequency of mutations, and the inheritance pattern.
  • The Weill-Marchesani Syndrome Patient Registry: This registry provides resources and support for patients and their families affected by Weill-Marchesani syndrome. It provides information on genetic testing, advocacy, and additional resources available.
  • PubMed: This database provides scientific articles on a wide range of topics, including Weill-Marchesani syndrome and the genes associated with it. It can be used to find references and research on the FBN1 and ADAMTS10 genes.

Inheritance

Weill-Marchesani syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. This means that both copies of the gene associated with the condition must be altered in order for an individual to be affected. When both parents are carriers of a gene mutation, there is a 25% chance of having an affected child with each pregnancy.

Advocacy groups and patient support resources can provide more information about the inheritance patterns and genetic testing options for Weill-Marchesani syndrome. Testing can help determine if a person carries a mutation in one of the genes associated with the condition, including ADAMTS10 and FBN1.

For each of these genes, mutations have been identified in individuals with Weill-Marchesani syndrome. It is important to note that not all individuals with the syndrome will have a mutation in one of these genes, suggesting that there may be additional genes involved in the development of the condition that have not yet been identified.

Additional resources are available through the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information about the genes associated with Weill-Marchesani syndrome and their role in the condition. The Genetic Testing Registry and the National Center for Biotechnology Information also offer information on testing and genes associated with the condition.

Scientific articles and case reports are frequently published on the topic of Weill-Marchesani syndrome, providing further insight into the causes, inheritance, and clinical features of this condition. PubMed is a useful resource for accessing these articles.

It is important for individuals and families affected by Weill-Marchesani syndrome to consult with healthcare professionals and genetic counselors to learn more about the specific inheritance patterns and genetic testing options available to them.

References:

  • Dagoneau, N., et al. (2004). Mutations in ADAMTS10 cause a Weill-Marchesani syndrome.
  • Gorlin, R.J., et al. (2016). Connective Tissue-Associated Diseases.

Other Names for This Condition

In addition to Weill-Marchesani syndrome, this rare genetic condition is also known by other names. Some of the other names associated with this syndrome include:

  • Gorlin syndrome
  • Marfan syndrome, Brachydactyly type B2
  • Dagoneau syndrome
  • ADAMTS10-related Weill-Marchesani syndrome

These names refer to specific patient populations, scientific discoveries, and genetic causes of Weill-Marchesani syndrome. Each name provides additional information about this condition and helps scientists, healthcare professionals, and advocacy groups connect with each other to learn more about Weill-Marchesani syndrome.

The presence of different names can sometimes cause confusion, but it also reflects the complexity of this condition and the diverse range of genetic mutations and causes that can lead to Weill-Marchesani syndrome.

To learn more about these names and the genetic testing available for Weill-Marchesani syndrome, you can refer to the following resources:

  • The Online Mendelian Inheritance in Man (OMIM) provides a catalog of genes and genetic conditions, including Weill-Marchesani syndrome.
  • The PubMed database contains scientific articles and references on Weill-Marchesani syndrome.
  • The Weill-Marchesani Syndrome Registry is a center for information and support for individuals and families affected by this condition.

Genetic testing and counseling can help individuals with Weill-Marchesani syndrome and their families understand their condition better. It can also provide important information about inheritance patterns and connective tissue disorders that may be associated with this syndrome. Consulting with healthcare professionals and genetic specialists is crucial for accurate diagnosis and appropriate management of the condition.

See also  PLCB4 gene

Additional Information Resources

For more information about Weill-Marchesani syndrome, including causes, symptoms, and testing, you can visit the following resources:

  • National Organization for Rare Disorders (NORD): NORD provides information about the condition, available support, and advocacy resources for patients and their families. More information can be found on their website.
  • Genetic and Rare Diseases Information Center (GARD): GARD offers comprehensive information on Weill-Marchesani syndrome, including inheritance patterns, associated genes, and available testing options. Visit their website to learn more.
  • The Online Mendelian Inheritance in Man (OMIM): OMIM provides a catalog of genetic conditions, including Weill-Marchesani syndrome, and offers detailed instructions on how to access relevant genetic information. Their website is a valuable resource for researchers and healthcare professionals.
  • PubMed: PubMed is a database of scientific articles and references related to Weill-Marchesani syndrome. It provides access to the latest research and information about the condition. You can search for specific articles or explore the available resources on their website.
  • Weill-Marchesani Syndrome Registry: The Weill-Marchesani Syndrome Registry collects information about patients with the condition and aims to improve understanding and support for affected individuals. You can find more information about the registry and how to participate on their website.
  • Gorlin Syndrome: Gorlin Syndrome, also known as nevoid basal cell carcinoma syndrome, shares some similarities with Weill-Marchesani syndrome. Learning about this related condition may provide additional insights into the genetic and connective tissue abnormalities associated with Weill-Marchesani syndrome.

These resources offer a wealth of information about Weill-Marchesani syndrome, including its causes, associated genes, genetic testing options, and more. By exploring these resources, you can learn about the condition, connect with support networks, and stay up to date with the latest research in the field.

Genetic Testing Information

The Weill-Marchesani syndrome is a rare genetic condition that affects connective tissues in the body. It is caused by mutations in certain genes, and genetic testing can be used to identify these mutations in individuals with the condition.

Genetic testing for Weill-Marchesani syndrome can provide valuable information about the specific genes involved and the inheritance patterns of the condition. This can help individuals and their families understand the cause of the syndrome and make informed decisions about their healthcare options.

There are several resources available for genetic testing of Weill-Marchesani syndrome, including the Weill-Marchesani Syndrome Patient Registry, which provides information about testing centers and genetic counselors. The National Center for Biotechnology Information (NCBI) also provides a catalog of genes associated with Weill-Marchesani syndrome, along with additional references and articles on the topic.

Genetic testing typically involves taking a sample of tissue or blood from the individual, which is then analyzed in a laboratory to look for specific genetic changes. The results of the test can help confirm a diagnosis of Weill-Marchesani syndrome and provide more information about the specific gene mutations involved.

It is important to note that genetic testing for Weill-Marchesani syndrome may not be available in all regions, and the cost of testing can vary. It is recommended to consult with a healthcare professional or genetic counselor to learn more about the availability and cost of genetic testing in your area.

Genetic testing can provide valuable information about Weill-Marchesani syndrome, allowing individuals and their families to better understand the condition and make informed healthcare decisions. By learning more about the specific genetic changes associated with the syndrome, researchers and healthcare providers can also continue to advance their understanding of the condition, leading to improved diagnosis and treatment options in the future.

Genetic and Rare Diseases Information Center

This article provides information about the Weill-Marchesani syndrome, a genetic condition that affects connective tissue. The article includes details about the inheritance pattern, associated features, genes involved, and available resources for support and further information.

Weill-Marchesani syndrome is a rare genetic condition characterized by skeletal abnormalities, short stature, joint stiffness, and eye problems. This condition is inherited in an autosomal recessive manner, which means that each parent of an affected individual carries one copy of the mutated gene.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides more information about the genes associated with Weill-Marchesani syndrome and its various subtypes.
  • PubMed: PubMed is a valuable resource for finding additional scientific articles and studies related to the condition.
  • Dagoneau et al. (2004): This article provides more information about the genes and proteins involved in the development of Weill-Marchesani syndrome.
  • Genetic Testing: Genetic testing can help confirm a diagnosis of Weill-Marchesani syndrome and identify the specific gene mutations involved.
  • Connective Tissue Disorders Registry: The Connective Tissue Disorders Registry is a patient registry that collects information from individuals with various connective tissue diseases, including Weill-Marchesani syndrome.
  • Weill-Marchesani Syndrome: The Weill-Marchesani Syndrome Foundation provides support, resources, and information for individuals and families affected by the condition.

To learn more about the condition and its genetic causes, individuals can refer to these resources for additional support and information. It is important to seek guidance from healthcare professionals for appropriate diagnosis and management of Weill-Marchesani syndrome.

Patient Support and Advocacy Resources

For patients diagnosed with Weill-Marchesani syndrome (WMS), there are several resources available to provide support and advocacy. WMS is a rare genetic disorder that affects connective tissue, caused by mutations in the FBN2 gene.

One resource that provides information and support for patients and their families is the Weill-Marchesani Syndrome Foundation. This foundation offers a wide range of resources, including educational materials, patient support groups, and access to medical professionals who specialize in the condition. They also have a registry where patients can connect and share experiences with others who have the syndrome.

For additional information and research articles about WMS, patients and healthcare professionals can refer to the Online Mendelian Inheritance in Man (OMIM) database. This database provides detailed scientific information about the genes associated with WMS, as well as inheritance patterns and other related conditions.

See also  RARA gene

The Genetic and Rare Diseases Information Center (GARD) is another valuable resource for patients with WMS. GARD offers a comprehensive overview of the condition, including its causes, symptoms, and available treatments. They also provide a list of support groups and advocacy organizations that can help patients and their families navigate the challenges of living with WMS.

Patients and their families may also find support through advocacy groups such as the National Organization for Rare Disorders (NORD) and the European Organisation for Rare Diseases (EURORDIS). These organizations work to raise awareness about rare diseases, provide patient support, and advocate for increased funding for research and treatment options.

In addition to these resources, genetic testing centers and genetic counselors can provide more information about WMS testing, genetic counseling, and available treatment options. They can also help patients understand the inheritance patterns and the risks of passing the condition onto future generations.

In conclusion, for patients and families affected by Weill-Marchesani syndrome, there are various patient support and advocacy resources available. These resources provide information, support, and connections to others who are facing the same challenges. Through these resources, patients can learn more about the condition, find support systems, and advocate for increased awareness and research in the field of WMS.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information about genetic causes, inheritance patterns, and clinical descriptions of various genetic diseases.

OMIM is a user-friendly database that serves as a valuable tool for scientists, researchers, healthcare professionals, and patients alike. It contains a vast collection of information about rare genetic diseases, including the Weill-Marchesani syndrome.

The Weill-Marchesani syndrome is a rare genetic condition characterized by short stature, distinctive facial features, skeletal abnormalities, and abnormalities of the connective tissue. It is caused by mutations in specific genes that are involved in normal connective tissue formation and function.

The OMIM catalog provides extensive information on the genes associated with the Weill-Marchesani syndrome, including their names, protein functions, and genetic inheritance patterns. It also provides details about the clinical features, age of onset, and prognosis of the syndrome.

For each gene associated with the Weill-Marchesani syndrome, the OMIM catalog offers additional resources such as scientific articles, references, and available genetic testing options. This allows researchers and healthcare professionals to learn more about the genetic basis of the condition and provide appropriate support and instructions for patients and their families.

In addition to information about the Weill-Marchesani syndrome, the OMIM catalog also includes details about many other genetic diseases, ranging from common conditions to extremely rare disorders. It provides a comprehensive overview of the available knowledge on each condition, making it a valuable resource for genetic research and clinical practice.

The OMIM catalog is continuously updated with new discoveries and research findings. It is freely accessible online, allowing easy access for healthcare professionals, researchers, and the general public. The availability of such a comprehensive and reliable resource greatly contributes to the understanding and management of rare genetic diseases like the Weill-Marchesani syndrome.

For more information about the Weill-Marchesani syndrome and other genetic diseases, you can visit the OMIM website or refer to the OMIM entries for specific genes and conditions. The OMIM website also provides links to related articles on PubMed and other available resources for further learning.

Scientific Articles on PubMed

Weill-Marchesani syndrome (WMS) is a rare genetic disorder that affects connective tissue. It is characterized by short stature, brachydactyly (short fingers and toes), joint stiffness, and other skeletal abnormalities. WMS is caused by mutations in the ADAMTS10 or FBN1 genes, which are involved in the production of connective tissue.

Scientific articles on PubMed provide valuable resources for learning more about this rare condition. These articles provide information on the inheritance patterns, clinical features, and genetic causes of WMS. They also provide instructions for genetic testing and counseling for patients and families affected by this condition.

The genetic basis of WMS has been well-studied, and several genes have been identified that are associated with the syndrome. In addition to ADAMTS10 and FBN1, other genes such as LTBP2 and ADAMTS17 have also been implicated in the development of WMS.

PubMed provides a comprehensive catalog of scientific articles on WMS. By searching for the keywords “Weill-Marchesani syndrome” or specific gene names associated with the condition, researchers and healthcare professionals can access a wealth of information on this rare disease.

In addition to scientific articles, PubMed also provides access to other resources related to WMS, such as patient support groups, advocacy organizations, and genetic testing centers. These resources can provide additional information and support for patients and families affected by WMS.

Understanding the genetic and molecular basis of WMS is important for developing targeted therapies and improving patient care. By studying the genes and proteins involved in WMS, researchers can gain insights into the normal development and function of connective tissue, as well as the underlying causes of other connective tissue disorders.

Overall, the scientific articles available on PubMed provide a valuable source of information for researchers, healthcare professionals, and patients interested in learning more about Weill-Marchesani syndrome.

References