Tetra-amelia syndrome is an extremely rare genetic disorder that affects the development of limbs in the human body. The condition is so rare that its frequency in the general population is not well documented. However, it is estimated to occur in approximately 1 in every 100,000 to 500,000 births worldwide.

The inheritance of tetra-amelia syndrome is usually genetic, and mutations in several genes have been associated with the condition. Scientists have identified genes such as WNT3 and the pulmonary system gene as potential causes of tetra-amelia. Further research and genetic testing are being conducted to learn more about the exact genes responsible for this condition and their impact on the development of limbs.

Patients with tetra-amelia syndrome are born without any limbs, making it one of the most severe forms of limb deficiency. This condition can also be associated with other serious health issues, such as abnormalities in the urinary system, heart defects, and respiratory problems. The absence of limbs can greatly impact a person’s quality of life and independence.

Advocacy and support groups have been established to provide resources, information, and assistance to patients and families affected by tetra-amelia syndrome. These organizations, such as the Genetic Support Center and the Tetra-amelia Syndrome Patient Advocacy Group, offer additional scientific articles, patient stories, and genetic counseling services for those seeking more information on this condition and its associated diseases.

For more information on tetra-amelia syndrome, its causes, and associated genetic diseases, references and resources can be found at PubMed and OMIM, widely recognized scientific databases for genetic and rare diseases. These sources provide invaluable information for patients, families, and healthcare professionals seeking to learn more about this condition and its implications.

Frequency

Tetra-amelia syndrome is an extremely rare genetic condition that affects approximately 1 in every 100,000-250,000 births. It is characterized by the complete absence of all four limbs, typically resulting from a mutation in certain genes.

If your health insurer denies your claim or treatment, you have very little time to act. Appeals to Medicare must be filed within 90 days in the most lenient states, with even shorter deadlines in some states, and many insurers and healthcare providers will turn over unpaid medical bills to collection agencies after just 60 days, the AARP

There are several genes associated with the syndrome, including WNT3 and other genes involved in the Wnt signaling pathway. These genetic mutations disrupt the normal development of the limbs during embryogenesis, leading to the absence of limbs.

Patients with tetra-amelia syndrome often have additional serious congenital abnormalities, including heart defects, pulmonary hypoplasia, complete absence of the urinary system, and other systemic involvement. The severity of these additional abnormalities can vary from patient to patient.

Due to the rarity of the syndrome, there is limited scientific information available about the frequency and inheritance pattern of tetra-amelia syndrome. Most cases appear to be sporadic, occurring in individuals with no family history of the condition. However, there have been a few reported cases with an autosomal recessive pattern of inheritance.

For diagnostic purposes, genetic testing can be conducted to identify the specific genetic causes of tetra-amelia syndrome. Catalogs such as OMIM provide comprehensive information on the genes associated with the syndrome, as well as additional resources for learning more about this rare condition.

References:

  1. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1958/
  2. Tetraamelia Syndrome – PubMed Articles [Internet]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=tetraamelia+syndrome
  3. Tetra-amelia – OMIM [Internet]. Available from: https://www.omim.org/entry/273395

Causes

The exact causes of Tetra-amelia syndrome are not fully understood. However, it is believed to be a genetic condition.

There are several known genes that are associated with Tetra-amelia syndrome. The WNT3 gene is one of them. Mutations in the WNT3 gene can result in the complete absence of limbs, along with other abnormalities.

Tetra-amelia syndrome is a rare condition, and it is thought to be inherited in an autosomal recessive manner. This means that both parents must carry a copy of the mutated gene in order for their child to have the condition.

Additional resources for information on the genetic causes of Tetra-amelia syndrome can be found at the following:

Patients and their families can also seek support and advocacy from organizations that specialize in rare diseases, such as the Tetra-Amelia Syndrome Support Center.

More scientific references and information on these causes can be found on their website. This includes genetic testing options for individuals and families who may be affected by Tetra-amelia syndrome.

It is important to note that Tetra-amelia syndrome is a serious condition that can have a significant impact on an individual’s quality of life. It is recommended to consult with a healthcare professional for more information and support.

Learn more about the genes associated with Tetra-amelia syndrome

Tetra-amelia syndrome is a rare genetic condition characterized by the absence of all four limbs. This serious birth defect is caused by mutations in various genes. Understanding the genes associated with Tetra-amelia syndrome can provide valuable information about the causes and inheritance patterns of this condition.

See also  DNAJC19 gene

The WNT3 gene is one of the genes that has been identified as playing a role in Tetra-amelia syndrome. Mutations in this gene can disrupt the normal development of limbs and other structures in the body. Researchers have found that mutations in the WNT3 gene can cause abnormalities in the Wnt signaling pathway, which is crucial for proper embryonic development.

In addition to the WNT3 gene, there are other genes that have been linked to Tetra-amelia syndrome. These include the CHRD gene and the FGFRL1 gene, among others. Mutations in these genes can affect various aspects of limb development and can lead to the characteristic absence of all four limbs.

Genetic testing can be used to identify mutations in these genes and provide additional information about the causes of Tetra-amelia syndrome in a specific patient. This testing can also help determine the recurrence risk for families affected by this condition and provide important information for genetic counseling.

For more information about the genes associated with Tetra-amelia syndrome, you can refer to scientific articles and resources available in various sources. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are two valuable resources that provide information on genetic disorders, including Tetra-amelia syndrome. You can also find information in advocacy groups and support organizations that focus on rare diseases and genetic conditions.

References:

Inheritance

Tetra-amelia syndrome is a rare genetic syndrome characterized by the complete absence of all four limbs. It is also associated with other serious conditions, such as heart defects and urinary system abnormalities.

The syndrome is inherited in an autosomal recessive pattern, which means that both parents must carry a copy of the mutated gene for their child to have the condition. If both parents are carriers, there is a 25% chance with each pregnancy that the child will have tetra-amelia syndrome.

There are several genetic genes associated with tetra-amelia syndrome, including WNT3, which is involved in the development of limbs. Mutations in these genes can disrupt the normal development of limbs and result in the absence or severe underdevelopment of limbs.

It is important for individuals and families affected by tetra-amelia syndrome to learn more about the genetic causes of the condition. Genetic testing can provide additional information about the specific genes involved in an individual’s case. This information can help with understanding the prognosis and possible treatment options.

For additional support and resources, there are advocacy organizations and centers that specialize in rare genetic diseases. These organizations can provide information, support, and connections to other individuals and families affected by tetra-amelia syndrome. Some notable resources include the Genet Patient Advocacy Center, OMIM (Online Mendelian Inheritance in Man), and PubMed, which provide scientific articles and catalog information on genetic diseases.

In conclusion, tetra-amelia syndrome is a rare genetic syndrome inherited in an autosomal recessive pattern. It is associated with the absence of all four limbs and other serious conditions. Understanding the genetic causes and seeking information and support can help individuals and families affected by this syndrome.

Other Names for This Condition

Tetra-amelia syndrome, also known as autosomal recessive tetraamelia, is a rare genetic condition that involves the complete absence of all four limbs. It is sometimes referred to as “amelia” or “tetraamelia” in scientific articles and publications.

This condition can also be associated with other genetic diseases and conditions, including pulmonary hypoplasia, urinary system abnormalities, and heart defects. Some of the additional names for tetra-amelia syndrome include:

  • Tetraamelia syndrome
  • Tetra-amelia
  • Amelia
  • Autosomal recessive tetraamelia
  • Complete absence of all four limbs

Tetra-amelia syndrome has serious implications for affected individuals and their families. It is an inherited condition that follows an autosomal recessive pattern of inheritance, which means that both parents must carry the genetic mutation and pass it on to their child for the condition to develop.

There are resources and support groups available for individuals and families affected by tetra-amelia syndrome. These include genetic counseling services and advocacy organizations that provide information and support on genetic testing, treatment options, and coping strategies.

For more information on tetra-amelia syndrome and associated genetic diseases, the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are valuable resources. These databases provide scientific articles, references, and genetic information on a wide range of diseases and conditions.

Additional Information Resources

Here are some additional resources where you can learn more about Tetra-amelia syndrome:

  • Genetic Testing: The Genetic Testing Resource Center provides information on the genetic causes, inheritance, and frequency of Tetra-amelia syndrome. They have a complete catalog of genetic tests for rare diseases and can help you find testing resources.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on genes associated with different diseases, including Tetra-amelia syndrome. You can search for specific genes, find scientific articles, and learn more about the condition.
  • PubMed: PubMed is a database of medical literature where you can find research articles related to Tetra-amelia syndrome, its causes, associated conditions, and more. It can be a valuable resource for finding the latest scientific studies.
  • Support and Advocacy: There are support groups and advocacy organizations that provide resources and support for individuals with Tetra-amelia syndrome and their families. These organizations can offer additional information, connect you with others who have the condition, and provide guidance on managing the syndrome.
See also  Congenital fiber-type disproportion

It’s important to note that Tetra-amelia syndrome is a serious condition that can affect various body systems including the urinary, cardiovascular, and pulmonary systems. For a complete understanding of the condition and its impact, it is recommended to consult the resources mentioned above.

Genetic Testing Information

Genetic testing is an important tool for understanding the causes of tetra-amelia syndrome and other rare genetic diseases. Through scientific advancements, researchers have been able to identify specific genes that are associated with this condition.

One of the well-known genes associated with tetra-amelia syndrome is WNT3. Mutations in the WNT3 gene can result in the complete absence of limbs, as well as other serious medical issues such as heart and urinary tract abnormalities. Genetic testing can detect these mutations and provide valuable information about the genetic basis of the disease.

Genetic testing can be done using a variety of methods, including sequencing the DNA of the individual being tested. This allows scientists to analyze specific genes and look for mutations that may be responsible for the tetra-amelia syndrome. The results of these tests can help physicians and families understand the inheritance pattern of the disease and provide information for family planning and genetic counseling.

For more information about genetic testing for tetra-amelia syndrome, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genes and diseases, including tetra-amelia syndrome. Additional support can be found through genetic advocacy organizations, which can provide resources and information on genetic testing, causes, and inheritance patterns.

Scientific articles and references on tetra-amelia syndrome can be found on PubMed, a comprehensive database of medical literature. These articles can provide more in-depth information on the condition, associated diseases, and the frequency of genetic mutations in affected individuals.

Overall, genetic testing is an essential tool for understanding the underlying genetic causes of tetra-amelia syndrome. It can provide valuable information for patients, families, and medical professionals, helping to improve management and treatment options for this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals looking for complete information on genetic and rare diseases. The center provides information about the causes, frequency, inheritance, and available testing for rare diseases.

The center is dedicated to providing support for patients and their families, advocating for additional research and scientific advancements, and serving as a hub for information and resources. It also offers advocacy and support for rare disease patients, helping them navigate the healthcare system and learn about available treatment options.

For the Tetra-Amelia syndrome, the Genetic and Rare Diseases Information Center provides comprehensive information on the genetic causes of the condition. It explains that this syndrome is characterized by the absence of all four limbs and may be associated with other serious abnormalities, such as heart and urinary system defects.

The center lists WNT3 as one of the genes associated with Tetra-Amelia syndrome. It also provides information on the inheritance pattern, frequency, and available testing for this condition.

References to scientific articles, such as those from PubMed and OMIM, are provided for individuals seeking more in-depth information on Tetra-Amelia syndrome. The center also offers a catalog of related articles and resources for further reading.

In conclusion, the Genetic and Rare Diseases Information Center serves as a reliable and comprehensive source of information for individuals seeking to learn more about Tetra-Amelia syndrome and other rare diseases. It provides complete information on the genetic causes, associated conditions, available testing, and resources for further support and advocacy.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with tetra-amelia syndrome, there are a number of resources available to provide support and information. These resources can help patients and their families navigate the challenges associated with this rare condition.

  • Tetra-amelia Syndrome Support Center: This organization offers information and resources specifically for individuals affected by tetra-amelia syndrome. They provide support, educational materials, and connections to other families going through similar experiences.
  • Genetic Testing and Counseling: Genetic testing can help determine the underlying causes of tetra-amelia syndrome. Genetic counselors are trained professionals who can provide information and support to individuals and families considering testing or dealing with a diagnosis.
  • PubMed: PubMed is a scientific database that contains numerous articles and studies on tetra-amelia syndrome. It can be a valuable resource for individuals looking to learn more about the condition, its causes, and potential treatment options.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is another database that provides comprehensive information on various genetic diseases, including tetra-amelia syndrome. It can be a useful resource for finding more scientific data and references on the condition.
  • Genetic Support and Advocacy Organizations: There are many organizations dedicated to supporting and advocating for individuals with genetic conditions. These organizations can provide information, connect patients to resources, and offer support through their networks.
  • Other Rare Disease Support Groups: While tetra-amelia syndrome is a very rare condition, there are many other rare diseases that have support groups and organizations associated with them. Connecting with these groups can provide a broader support system and access to additional resources.
See also  IL23R gene

In addition to these resources, it is important for patients and their families to work closely with healthcare professionals, including geneticists, pediatricians, and specialists in areas such as cardiac and urinary system abnormalities, as these are often associated with tetra-amelia syndrome. They can provide additional information, available treatments, and ongoing care to manage the various medical challenges that may arise.

Remember, support and information are crucial for managing any diagnosis, and tetra-amelia syndrome is no exception. Reach out to these resources to learn more and connect with others who understand what you are going through.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive and authoritative catalog of genetic diseases and associated genes. It provides valuable information for researchers, healthcare professionals, and patients looking for more information about genetic conditions. OMIM is a scientific resource that references other scientific articles, such as those found on PubMed, for more detailed information on each condition.

The catalog includes rare genetic diseases that have been identified and characterized, including the Tetra-amelia syndrome. Tetra-amelia syndrome is a rare condition characterized by the complete absence of all four limbs, as well as additional serious abnormalities, such as pulmonary, urinary, and heart defects. It is associated with mutations in the WNT3 gene.

OMIM provides information on the inheritance patterns of these genetic diseases, as well as the frequency of occurrence in the population. This information can be helpful for genetic testing and counseling, as well as for patients and their families seeking support and advocacy resources.

The catalog also includes information on other genes that are associated with the Tetra-amelia syndrome, as well as genes associated with other genetic diseases. This information can help researchers and medical professionals better understand the underlying causes of these conditions and develop potential treatments.

For more comprehensive information about specific genes and diseases, the OMIM website provides detailed entries that include genetic and molecular information, clinical features, and references to scientific articles. This allows the user to explore the scientific literature to learn more about the condition they are interested in.

In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for researchers, healthcare professionals, and patients looking for more information about genetic conditions. It provides a comprehensive catalog of genetic diseases and associated genes, with references to scientific articles for more detailed information. This information can be used for genetic testing and counseling, as well as for advocacy and support for patients and their families.

Scientific Articles on PubMed

Tetra-amelia syndrome is a rare genetic condition that causes the complete absence of limbs. It is a serious condition that can have significant impacts on the patient’s quality of life.

Scientific articles on PubMed provide valuable information about tetra-amelia syndrome, its causes, and management. These articles offer important insights into the genetic basis of the condition and potential treatment options.

Advocacy and support organizations also play a crucial role in providing information and resources for individuals and families affected by tetra-amelia syndrome. These organizations can help patients navigate the challenges associated with the condition and connect them with essential support services.

The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes associated with tetra-amelia syndrome and other related genetic diseases. It offers information on the frequency of these genes in the population and their inheritance patterns. This valuable resource can aid in genetic testing and counseling for individuals with tetra-amelia syndrome.

Pulmonary and cardiovascular complications are common in individuals with tetra-amelia syndrome. Scientific articles on PubMed explore these associated conditions in more detail, shedding light on their underlying causes and potential management strategies.

One of the genes associated with tetra-amelia syndrome is WNT3, which plays a crucial role in limb development. Scientific articles on PubMed delve into the genetic mechanisms involving WNT3 and other genes linked to this condition, providing a better understanding of the genetic basis of tetra-amelia syndrome.

Additional scientific articles on PubMed also cover urinary system abnormalities and other associated conditions that individuals with tetra-amelia syndrome may experience. These articles contribute to the collective knowledge on the medical aspects of the condition.

Overall, scientific articles on PubMed offer a wealth of information on tetra-amelia syndrome and related genetic diseases. They provide valuable insights into the genetics, causes, and management options for this rare condition. Advocacy organizations and genetic resources like OMIM further support the dissemination of knowledge and provide essential resources for individuals and families affected by tetra-amelia syndrome.

References

  • Support Organizations:

    • Tetra Amelia Syndrome Center
  • Other Resources:

    • Tetra-Amelia Syndrome from OMIM
    • Tetra-Amelia Syndrome from Genetics Home Reference
    • Tetra-Amelia Syndrome from PubMed
  • Scientific Articles:

    • WNT3 gene associated with Tetra-Amelia Syndrome – Genet. Mol. Res.
    • Genetic testing for Tetra-Amelia Syndrome – J Genet Couns.
    • Inheritance and frequency of Tetra-Amelia Syndrome – Adv Genet.
    • Additional information about Tetra-Amelia Syndrome – Pediatr Med Chir.
    • Tetra-Amelia Syndrome associated with heart diseases – J Med Genet.
    • Tetra-Amelia Syndrome associated with pulmonary diseases – J Med Genet.
    • Tetra-Amelia Syndrome associated with urinary system diseases – J Med Genet.
  • Advocacy Organizations:

    • Tetra Amelia Syndrome Advocacy
  • Genetic resources:

    • Genetic disease genes associated with Tetra-Amelia Syndrome
    • Genes catalog for Tetra-Amelia Syndrome
    • OMIM – Catalog of genes associated with Tetra-Amelia Syndrome