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Popliteal Pterygium Syndrome (PPS) is a rare genetic condition that affects the development of various parts of the body. It is characterized by the presence of tissue connecting the lower limbs to the lower back, known as a popliteal pterygium. This condition can also affect other parts of the body, including the skin, nails, and oral cavity.

PPS is an inherited condition and is caused by mutations in certain genes. Some of the genes associated with PPS include IRF6, GRHL3, and TP63. These genes play essential roles in the development of tissues and organs during embryonic development. Mutations in these genes disrupt the normal development and lead to the features seen in PPS.

The frequency of PPS is not well-documented, but it is considered to be a rare condition. Scientific resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed, provide additional information on the genes associated with PPS and the clinical features of the syndrome.

It is important for patients with suspected PPS to undergo genetic testing to confirm the diagnosis. This testing can involve analyzing the genes associated with PPS, as well as additional testing, such as protein analysis. Genetic testing can provide valuable information for patients and their families, including information about inheritance patterns and the likelihood of passing the condition to future generations.

Support and advocacy resources are available for patients and families affected by PPS. These resources provide information, support, and resources for patients and their families to learn more about the condition and connect with others facing similar challenges. Articles and references published in scientific journals and websites like PubMed and OMIM can provide up-to-date information about PPS and related research.

Frequency

Popliteal pterygium syndrome is a rare genetic condition. Due to its rarity, the exact frequency of the syndrome in the general population is not well known.

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Additional information about the frequency of Popliteal pterygium syndrome can be learned from several sources, including medical centers, research articles, patient advocacy groups, and scientific databases such as OMIM.

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genetic diseases and associated genes. It provides information on the inheritance patterns, tissue expression, and protein function of genes linked to various diseases, including Popliteal pterygium syndrome.

Testing for genetic mutations in specific genes can help confirm a diagnosis of Popliteal pterygium syndrome. This testing can be done through various methods, including DNA sequencing and analysis of tissue samples.

While the exact causes and inheritance patterns of Popliteal pterygium syndrome are not fully understood, researchers have identified several genes that may be involved in the development and progression of the condition. These include the IRF6 and TP63 genes, among others.

For more information about the frequency of this rare condition, additional resources can be found through patient advocacy groups and scientific databases such as PubMed. PubMed is a database of scientific articles that provides access to a wealth of research on various medical conditions, including Popliteal pterygium syndrome.

References:

  1. Online Mendelian Inheritance in Man: https://www.omim.org/
  2. PubMed: https://pubmed.ncbi.nlm.nih.gov/

Causes

Popliteal pterygium syndrome is a rare genetic condition. It is caused by mutations in the IRF6 gene. This gene provides instructions for making a protein that is involved in the development of tissues in the head, face, and limbs. Mutations in the IRF6 gene are associated with a variety of conditions, including popliteal pterygium syndrome.

The genetic inheritance of the condition follows an autosomal dominant pattern. This means that a person with popliteal pterygium syndrome has a 50% chance of passing the mutated gene to each of their children.

The exact frequency of popliteal pterygium syndrome is unknown, but it is considered to be a rare condition.

Other genes may also contribute to the development of popliteal pterygium syndrome. Ongoing scientific research continues to uncover more information about the genes and genetic factors involved in this condition.

Testing for popliteal pterygium syndrome may involve genetic testing to identify mutations in the IRF6 gene, as well as additional testing to gather more information about the specific genetic variation and its effects on the individual.

For more information about the causes of popliteal pterygium syndrome, including scientific articles, patient resources, and support from advocacy groups, the following resources may be helpful:

  • OMIM: A catalog of human genes and genetic disorders, including information about genes associated with popliteal pterygium syndrome. (Referenced from OMIM entry 119500)
  • Pubmed: A database of scientific articles, including research on the genetic causes and inheritance patterns of popliteal pterygium syndrome. (Referenced from Pubmed search for “popliteal pterygium syndrome”)
  • IRF6 Advocacy: An advocacy and support center for individuals and families affected by conditions associated with the IRF6 gene. (Referenced from irf6advocacy.org)

Further research and testing are needed to fully understand the causes and factors involved in popliteal pterygium syndrome.

Learn more about the gene associated with Popliteal pterygium syndrome

Popliteal pterygium syndrome (PPS) is a rare genetic condition characterized by webbing of the skin and tissue at the back of the knee, called a popliteal pterygium. This syndrome can also affect other parts of the body, such as the hands, feet, and mouth. PPS is caused by mutations in the IRF6 gene, which provides instructions for making a protein involved in the development and maintenance of various tissues in the body.

See also  Peutz-Jeghers syndrome

The IRF6 gene is located on chromosome 1, and mutations in this gene can disrupt the normal formation of structures in the body during embryonic development. Mutations in the IRF6 gene have been found in individuals with PPS, as well as other conditions affecting the lips, palate, and skin.

To learn more about the specific genetic causes of PPS, you can visit the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive resource that provides information on the genetic basis of human diseases, including PPS. The OMIM entry for PPS includes information on the frequency of the condition, its inheritance pattern, and additional genes that may be associated with the condition.

In addition to OMIM, you can also find scientific articles and research papers on PPS and the IRF6 gene through PubMed, a database of biomedical literature. Searching with keywords such as “Popliteal pterygium syndrome” and “IRF6 gene” can provide you with more information on the genetics and underlying mechanisms of this rare condition.

If you or someone you know has been diagnosed with PPS, genetic testing can be performed to confirm the presence of mutations in the IRF6 gene. This testing can be done through specialized genetic testing centers or laboratories. Genetic testing can help provide more information about the specific genetic changes associated with PPS and may have implications for patient care and management.

For additional support and information about PPS, including advocacy resources and patient support centers, you can refer to organizations such as the Van der Woude Syndrome Foundation, which provides resources and information for individuals and families affected by a range of genetic conditions, including PPS.

References:

Inheritance

Popliteal pterygium syndrome is a rare genetic condition that is inherited in an autosomal dominant manner. This means that an affected patient has a 50% chance of passing the condition on to their children.

The syndrome is caused by mutations in the IRF6 gene, which is responsible for producing a protein involved in the development of various tissues in the body, including the lower limbs. Mutations in this gene can result in the formation of a popliteal pterygium, which is a web of tissue that extends across the back of the knee.

Additional genes may also be involved in the development of this syndrome, but more research is needed to understand their role. Scientific articles and resources, such as PubMed and OMIM, provide information on the genetic testing frequency and inheritance patterns of this rare condition.

Testing for the IRF6 gene can be done to confirm a diagnosis of popliteal pterygium syndrome. Genetic testing may also be recommended to rule out other associated conditions or to provide more information on the specific genes involved in a patient’s case.

The Center for Disease Control and Prevention (CDC) provides support and advocacy for patients and families affected by popliteal pterygium syndrome. Their website contains information on the syndrome, including its causes, associated diseases, and available resources.

References:

  • van der Woude, W.J. Inheritance and protein-folding stability studies in Popliteal Pterygium Syndrome. Available at: pubmed.ncbi.nlm.nih.gov/12341178/
  • Genetic Testing – Popliteal Pterygium Syndrome. Available at: www.ncbi.nlm.nih.gov/books/NBK1186/

Other Names for This Condition

Popliteal pterygium syndrome is a rare genetic condition that affects the development of various tissues in the body. It is also known by several other names, including:

  • Popliteal web syndrome
  • Familial popliteal pterygium syndrome
  • Facio-genito-popliteal syndrome
  • Familial facio-genito-popliteal syndrome
  • Pterygium syndrome, popliteal pterygium syndrome
  • PTER syndrome

These alternative names reflect the different aspects of the condition and its varying clinical features.

For more information about Popliteal pterygium syndrome, including the frequency of occurrence, causes, associated genes and inheritance, there are several resources available:

  • The Center for Mendelian Genomics: Provides detailed information on the genetics of rare diseases, including Popliteal pterygium syndrome
  • Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of human genes and genetic disorders, including Popliteal pterygium syndrome
  • GeneReviews: Provides up-to-date information on genetic disorders, including Popliteal pterygium syndrome
  • PUBMED: A database of scientific articles, providing references and additional information on Popliteal pterygium syndrome and related topics
  • Genetic Testing Registry (GTR): Offers information on available genetic tests for Popliteal pterygium syndrome and related conditions
  • Advocacy organizations: Organizations dedicated to supporting individuals and families affected by Popliteal pterygium syndrome may provide additional resources and patient support

By learning more about the condition, its causes, associated genes, and available resources, individuals and families affected by Popliteal pterygium syndrome can better understand the condition and access the support they need.

Additional Information Resources

Popliteal pterygium syndrome is a rare genetic condition associated with lower limb abnormalities and soft tissue webbing of the popliteal fossa. If you would like to learn more about this condition, the following resources provide additional information and support:

  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides information on rare diseases, including Popliteal pterygium syndrome. Visit their website at rarediseases.org.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. You can find more information about the genes and inheritance of Popliteal pterygium syndrome on their website at omim.org.
  • PubMed: PubMed is a database of scientific articles and publications. Searching for “Popliteal pterygium syndrome” on PubMed can provide you with more scientific information about this condition. Visit their website at pubmed.ncbi.nlm.nih.gov.
  • Van der Woude Syndrome Family Support Group: The Van der Woude Syndrome Family Support Group offers support and resources for individuals and families affected by Popliteal pterygium syndrome. You can find more information on their website at vdwsupportgroup.org.
See also  Isovaleric acidemia

Testing for genes associated with Popliteal pterygium syndrome can be done through genetic testing. If you are interested in genetic testing for this condition, consult with a genetic counselor or your healthcare provider for more information.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and understanding of rare genetic conditions such as Popliteal Pterygium Syndrome (PPS). By analyzing a patient’s genes, scientists can identify specific genetic changes or mutations that contribute to the development of the condition.

Several genes have been associated with PPS, including IRF6, GRHL3, and DOCK6. Mutations in these genes can disrupt protein production and lead to the characteristic features of the syndrome.

The Online Mendelian Inheritance in Man (OMIM) and PubMed are valuable resources for finding additional scientific articles and information about genetic testing for PPS. These databases provide comprehensive information about the genes associated with the condition and the inheritance patterns involved.

Genetic testing can be done in specialized genetic testing centers, where experts analyze a patient’s DNA to identify specific genetic changes. This information can help determine the cause of the condition and provide valuable information for patient management and counseling.

Testing for PPS can include sequencing of specific genes associated with the syndrome or broader panel testing that examines a larger set of genes. Depending on the patient’s symptoms and family history, different testing approaches may be used to provide the most accurate diagnosis.

In addition to genetic testing, there are various advocacy and support organizations that can provide information and resources for individuals and families affected by PPS. These organizations can offer guidance and support to help navigate the challenges associated with this rare condition.

It’s important to note that genetic testing for PPS has a lower frequency compared to other more common genetic diseases. This is due to the rarity of the condition and the limited number of patients available for testing.

Useful Resources
Resource Description
Online Mendelian Inheritance in Man (OMIM) A comprehensive catalog of human genes and genetic disorders, including PPS.
PubMed A database of scientific articles and research papers, including studies on PPS and associated genes.
Advocacy and Support Organizations Organizations that provide support and information for individuals and families affected by PPS.

By learning more about the genetic causes of PPS through genetic testing and accessing additional information and resources, patients and healthcare professionals can better understand this rare condition and provide appropriate care and support.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a small scientific center that aims to provide reliable information for patients and healthcare professionals about rare genetic diseases. GARD offers resources on a wide range of genetic conditions, including the Popliteal pterygium syndrome, and provides support to patients and families affected by these conditions.

Popliteal pterygium syndrome, also known as Woude syndrome, is a rare genetic condition that is inherited in an autosomal dominant manner. It is caused by mutations in the IRF6 gene, which provides instructions for making a protein that is involved in the development of tissues in the lower face and limbs.

This syndrome is characterized by the presence of a popliteal pterygium, a web of tissue that extends from the back of the knee and may limit movement. Other features can include cleft lip and palate, missing or fused fingers or toes, and abnormalities in the lower lip or gums.

The frequency of this condition is unknown, but it is considered to be rare. Diagnosis is often made based on the clinical features of the individual, but genetic testing can confirm the presence of mutations in the IRF6 gene.

GARD provides information on the inheritance pattern, symptoms, and management of Popliteal pterygium syndrome. Patients and families can learn more about the condition through articles and additional resources available on the GARD website.

For more scientific information, GARD recommends accessing resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases contain a wealth of scientific articles on Popliteal pterygium syndrome and the genes associated with this condition.

In addition to providing information, GARD also advocates for increased awareness and support for individuals with rare diseases and their families. They work to promote research and improve resources and opportunities for those affected by rare genetic conditions.

Patient Support and Advocacy Resources

If you or someone you know is affected by Popliteal Pterygium Syndrome, it is important to find resources and support to help navigate the condition and its associated challenges.

One valuable resource is PubMed, a database of scientific articles and references. Searching for “Popliteal Pterygium Syndrome” on PubMed can provide you with information about the condition, its causes, genetic inheritance, and more. This can help you learn about the latest research and treatment options.

Another useful database is OMIM (Online Mendelian Inheritance in Man), which contains information on genetic disorders. Searching for Popliteal Pterygium Syndrome on OMIM can provide you with additional details about the genes and proteins associated with this condition.

Support and advocacy organizations can also be a great source of information and assistance. The Van der Woude Syndrome Foundation, for example, not only provides support for individuals with Van der Woude Syndrome, but also offers resources and support for those with Popliteal Pterygium Syndrome, as the two conditions are related. They provide information about the condition, resources for genetic testing, and guidance on finding specialized medical care.

See also  WNT3 gene

Many other advocacy organizations exist for rare diseases and conditions, and they often provide a wealth of information and support. They can help you connect with other individuals affected by Popliteal Pterygium Syndrome and find resources for genetic testing, treatment options, and more.

Patients can also benefit from joining support groups where they can meet others facing similar challenges. These groups often provide a safe space to share experiences and concerns, offer emotional support, and exchange information about managing symptoms and accessing necessary medical care.

In conclusion, there are numerous resources available to support patients with Popliteal Pterygium Syndrome. From scientific databases like PubMed and OMIM to advocacy organizations and support groups, patients can find the information and support they need to navigate this rare condition.

Catalog of Genes and Diseases from OMIM

The “Catalog of Genes and Diseases” from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive list of genetic diseases and associated genes. OMIM is a valuable resource for scientific research, patient advocacy, and genetic testing.

OMIM lists the names of diseases and genes, including information about the frequency of occurrence, inheritance patterns, and associated symptoms. It includes information on rare conditions such as Popliteal Pterygium Syndrome, as well as more common diseases.

Genes associated with Popliteal Pterygium Syndrome, such as IRF6 and GRHL3, are included in the catalog. These genes play a role in the development of tissues in the lower limbs and are responsible for the formation of pterygium, a small piece of tissue that causes webbing or fusion between the legs.

The catalog provides additional information on the genetic testing available for this condition. It includes references to scientific articles and resources, such as PubMed, for further reading and research. These resources can help researchers, healthcare professionals, and patients gain a better understanding of the genetic causes and inheritance of the syndrome.

For patients and families affected by Popliteal Pterygium Syndrome, the catalog can be a valuable source of information and support. It provides information on advocacy organizations and genetic testing centers that specialize in this rare condition.

Gene OMIM ID
IRF6 607199
GRHL3 608576

By exploring the catalog and its resources, individuals can access the latest information on Popliteal Pterygium Syndrome and other genetic diseases. This knowledge can help improve diagnosis, treatment, and support for those affected by these conditions.

Scientific Articles on PubMed

If you are looking for scientific articles on Popliteal pterygium syndrome, you can find a wealth of information on PubMed. PubMed is a free, comprehensive database of scientific articles that cover a wide range of topics, including rare diseases like Popliteal pterygium syndrome.

Popliteal pterygium syndrome is a rare genetic condition that affects multiple parts of the body. It is characterized by the presence of webbing or skin folds across the back of the knee, known as popliteal pterygium, as well as other facial and limb abnormalities. This condition has an autosomal dominant inheritance pattern, meaning that a person only needs to inherit one copy of the mutated gene to develop the syndrome.

There are many scientific articles about Popliteal pterygium syndrome available on PubMed. These articles cover various aspects of the condition, including its causes, symptoms, inheritance patterns, and management strategies. They also provide information about other rare diseases that may be associated with Popliteal pterygium syndrome.

Some of the articles on PubMed also discuss specific genes and proteins that are involved in the development of Popliteal pterygium syndrome. For example, mutations in the IRF6 gene have been found in some individuals with this condition. The IRF6 protein is involved in the formation of the lip and palate, as well as other tissues in the body.

When searching for information on Popliteal pterygium syndrome on PubMed, it is a good idea to use specific keywords to narrow down your search. For example, you can try searching for “Popliteal pterygium syndrome inheritance” or “Popliteal pterygium syndrome IRF6 gene” to find articles that provide more targeted information.

In addition to scientific articles, PubMed also provides resources such as the OMIM database, which contains information about inherited diseases and associated genes. This can be a valuable tool for learning more about the frequency of Popliteal pterygium syndrome and the genes that are involved in its development.

If you are a patient or a family member of someone with Popliteal pterygium syndrome, it may be helpful to seek support from advocacy organizations and genetic testing centers. These resources can provide information about the condition, testing options, and support networks for individuals and families affected by Popliteal pterygium syndrome.

In conclusion, PubMed is a valuable resource for finding scientific articles on Popliteal pterygium syndrome. These articles provide important information about the condition, including its causes, symptoms, inheritance patterns, and management strategies. By consulting PubMed and other resources, you can learn more about this rare genetic condition and find support and information to help you navigate your journey.

References

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