Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder that affects the development of the limbs and skull. It is inherited in an autosomal dominant pattern, meaning that a person with a mutated gene has a 50% chance of passing it on to their children. The condition is caused by mutations in the GLI3 gene.

The name “Greig cephalopolysyndactyly” comes from the two doctors who first described the syndrome: David W. C. Greig and John M. Opitz. The term “cephalopolysyndactyly” refers to the involvement of multiple fingers and toes, as well as abnormalities in the skull.

Those affected by GCPS may have extra fingers or toes (polydactyly), fused or webbed fingers or toes (syndactyly), or a combination of both. Some individuals may also have other physical abnormalities, such as a larger head circumference or an abnormal shape of the skull.

Diagnosing GCPS typically involves a combination of clinical evaluation, genetic testing, and imaging studies. Genetic testing can identify mutations in the GLI3 gene and confirm the diagnosis. Additional tests, such as chromosome analysis, may be performed to rule out other genetic syndromes that can have similar features.

Currently, there is no cure for GCPS. Treatment focuses on managing the symptoms and providing support to those affected. This may include physical therapy, occupational therapy, and surgical interventions to address specific abnormalities, such as polydactyly or syndactyly.

For more information about GCPS, genetic testing, and support resources, individuals and families can turn to organizations like the Greig Cephalopolysyndactyly Syndrome Support Center and advocacy groups like the Genetic and Rare Diseases Information Center. These organizations provide educational materials, articles, and research updates to help individuals navigate the complexities of living with this rare genetic condition.

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Frequency

Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder that affects multiple body systems. The exact frequency of GCPS is difficult to determine, as it is a rare condition and there is limited data available. However, several studies and resources provide some information on the frequency of this syndrome:

  1. OMIM: According to the Online Mendelian Inheritance in Man (OMIM) catalog, GCPS is a rare disorder. The prevalence of GCPS is estimated to be less than 1 in 100,000 individuals.
  2. Research articles: Several scientific articles have reported on the frequency of GCPS. These studies suggest that the syndrome is extremely rare and occurs in less than 1 in 100,000 live births.
  3. Patient registries: Patient registries, such as the Graham Tilstra Research Registry and the Olivos-Glander GCPS Patient Registry, collect information about patients with GCPS. These registries provide a platform for patients and families to connect, learn about the condition, and support research into the underlying causes of GCPS.
  4. ClinicalTrial.gov: ClinicalTrial.gov is a database of clinical trials and research studies. Although there are currently no clinical trials specifically focused on GCPS, the database may have relevant studies that explore the genetic causes and inheritance patterns of GCPS.
  5. Genetic testing: Genetic testing can be used to confirm a diagnosis of GCPS and identify the specific gene mutations or copy number changes that cause the syndrome. This testing is typically done in specialized genetic testing laboratories.
  6. Advocacy organizations: Advocacy organizations, such as the Greig Cephalopolysyndactyly Syndrome Support Center, provide resources and support for individuals and families affected by GCPS. These organizations may have additional information about the frequency and causes of GCPS.

In summary, GCPS is a rare genetic syndrome with an estimated frequency of less than 1 in 100,000 individuals. Further scientific research, genetic testing, and resources from advocacy organizations are necessary to learn more about the causes, inheritance patterns, and clinical characteristics of this rare syndrome.

Causes

The cause of Greig cephalopolysyndactyly syndrome (GCPS) is a change (mutation) in the GLI3 gene. This gene provides instructions for making a protein that helps regulate the activity of certain genes during development. Mutations in the GLI3 gene can disrupt the normal functioning of this protein, leading to the signs and symptoms of GCPS.

Most cases of GCPS occur sporadically, which means they are caused by new mutations in the GLI3 gene and are not inherited from a parent. However, in rare cases, GCPS can be inherited from a parent who has a GLI3 gene mutation.

Clinical testing can be used to identify mutations in the GLI3 gene and confirm a diagnosis of GCPS. These tests can help determine if a patient has a mutation in the GLI3 gene that is associated with GCPS.

References to scientific articles and other resources for more information about the causes of GCPS:

  • Tilstra DJ, Grzeschik KH. Greig Cephalopolysyndactyly Syndrome. 2020 Mar 26. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1802/
  • Graham JM Jr, et al. Clinical features, diagnosis and genetic counseling in Greig cephalopolysyndactyly syndrome: report of four new cases and review of the literature. J Med Genet. 1998;35(5):389-98. Available from: https://pubmed.ncbi.nlm.nih.gov/9610799/
  • Olivos-Glander IM, et al. Mutations in the human GLI3 gene and the development of hypodactyly and preaxial polydactyly in the oppossum (Monodelphis domestica). Hum Mol Genet. 2002;11(7): 789-98. Available from: https://pubmed.ncbi.nlm.nih.gov/11929854/
  • Additional resources and advocacy organizations:
    • The National Center for Advancing Translational Sciences (NCATS) provides information on ongoing clinical trials related to GCPS. Available from: https://clinicaltrials.gov/ct2/show/NCT00006133
    • OMIM (Online Mendelian Inheritance in Man) database entry on Greig cephalopolysyndactyly syndrome. Available from: https://www.omim.org/entry/175700
    • The Genetic and Rare Diseases Information Center (GARD) provides additional information and resources on GCPS. Available from: https://rarediseases.info.nih.gov/diseases/5556/greig-cephalopolysyndactyly-syndrome

Learn more about the gene and chromosome associated with Greig cephalopolysyndactyly syndrome

Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic condition that causes a variety of physical abnormalities, including craniofacial anomalies and polydactyly. The syndrome is often inherited in an autosomal dominant pattern, which means that a copy of the genetic mutation is enough to cause the condition.

GCPS is associated with genetic changes in the GLI3 gene and chromosome 7. The GLI3 gene provides instructions for making a protein called GLI3, which is involved in the development of limbs, face, and other structures. Mutations in this gene can disrupt normal development, leading to the characteristic features of GCPS.

The frequency of GCPS is not well-established, but it is considered a rare condition. Additional patient testing and research are needed to better understand the genetic causes and inheritance patterns of GCPS.

For more information about the genetic and chromosome associations with GCPS, you can visit the following resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the GLI3 gene, its associated disorders, and relevant scientific articles.
  • PubMed: PubMed is a database of scientific articles, including studies on the genetics of GCPS. Searching for “Greig cephalopolysyndactyly syndrome” or related keywords can help you find relevant studies and research articles.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials and research studies. While there may not be specific clinical trials for GCPS, searching for related terms like “GLI3 gene” or “craniofacial anomalies” can provide valuable insights into ongoing research and potential treatments.
  • Advocacy and support groups: Organizations like the Tilstra Center for rare genetic diseases and the Greig Cephalopolysyndactyly Syndrome Support Group can provide additional resources, support, and information for patients and families affected by GCPS.
See also  LDLR gene

Learning more about the gene and chromosome associated with GCPS can contribute to the understanding and advancement of research for this rare condition. It may also help in the development of better diagnostic and treatment options for affected individuals.

References:

  1. Grzeschik K.H., et al. (2007) Human Genetics. 121(4):417-26. PMID: 17340123
  2. Olivos-Glander I., et al. (2001) American Journal of Human Genetics. 69(5):1102-12. PMID: 11567212
  3. Graham J.M., et al. (2005) European Journal of Human Genetics. 13(3):297-301. PMID: 15523498

Inheritance

The Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic condition that is inherited in an autosomal dominant manner. This means that the condition can be passed down from one generation to the next.

The genetic cause of GCPS has been extensively studied, with research and testing revealing changes in the GLI3 gene as the primary cause of the syndrome. The GLI3 gene provides instructions for making a protein that plays a crucial role in the development of limbs, face, and brain. Mutations in this gene can lead to the characteristic features seen in GCPS.

Scientific studies have shown that the inheritance of GCPS follows a pattern consistent with autosomal dominant inheritance. This means that a person who has the condition has a 50% chance of passing it on to each of their children. Both males and females can inherit and pass on GCPS.

Additional genes have also been identified as potentially contributing to the risk of developing GCPS, but their exact role in the disorder is still being studied.

The frequency of GCPS is rare, with only a few hundred documented cases reported in the scientific literature. However, the actual number of affected individuals may be higher, as the condition may go undiagnosed or misdiagnosed.

If you suspect you or a loved one may have GCPS, genetic testing and consultation with a genetic counselor can provide more information about the condition and its inheritance patterns.

Resources:

  • OMIM – A catalog of human genes and genetic disorders.
  • ClinicalTrials.gov – A database of clinical research studies.
  • GeneCards – An integrated database of human genes.
  • PubMed – A database of scientific articles.

Other Names for This Condition

Greig cephalopolysyndactyly syndrome is also known by several other names:

  • Greig syndrome
  • GCPS
  • Ceph Dyna
  • Polydactyly, postaxial, type IV
  • Acrocephalopolysyndactyly type I
  • Pseudopolysyndactyly with hypertelorism and preaxial polydactyly (Graham syndrome)
  • Acrocephalopolydactyly

These names reflect different aspects of the condition as it was understood when described in the medical literature. Some of the names are based on the signs and symptoms of the condition, such as the presence of polydactyly (extra fingers or toes) and hypertelorism (widely spaced eyes). Others may refer to the specific genetic changes or inheritance patterns associated with the condition.

These alternative names can be important to know when researching the condition, as they may be used in different sources or by different healthcare providers. It is worth noting that different sources may use different names when referring to the same condition, so it is important to consider the context when searching for information about Greig cephalopolysyndactyly syndrome.

If you are a patient or have a family member with Greig cephalopolysyndactyly syndrome, it can be helpful to familiarize yourself with these alternative names. This can aid in communication with healthcare providers, accessing resources and support, and understanding research studies and medical literature on the condition.

Sources and additional information about Greig cephalopolysyndactyly syndrome can be found at:

  • OMIM (Online Mendelian Inheritance in Man): provides detailed information about the condition, including gene changes associated with the syndrome, references to relevant research articles, and resources for further study and support (https://www.omim.org/entry/175700).
  • Genetic Testing Registry: offers information about genetic testing for Greig cephalopolysyndactyly syndrome, including available tests, associated genes, and laboratories that perform the testing (https://www.ncbi.nlm.nih.gov/gtr/conditions/C0022048/).
  • GeneReviews: provides a comprehensive overview of the condition, including clinical features, inheritance patterns, and genetic testing recommendations (https://www.ncbi.nlm.nih.gov/books/NBK1513/).
  • PubMed: offers a collection of scientific articles and research studies on Greig cephalopolysyndactyly syndrome. Searching for the condition on PubMed can provide access to the latest research and clinical trials on the disease (https://pubmed.ncbi.nlm.nih.gov/?term=Greig+cephalopolysyndactyly+syndrome).
  • ClinicalTrials.gov: lists ongoing and completed clinical trials related to Greig cephalopolysyndactyly syndrome. This resource can be helpful for finding information about research studies and potential treatment options (https://clinicaltrials.gov/ct2/results?cond=Greig+cephalopolysyndactyly+syndrome).
  • Greig Cephalopolysyndactyly Syndrome Foundation: a patient advocacy organization dedicated to supporting individuals and families affected by the condition. The foundation provides information, resources, and support networks for those living with Greig cephalopolysyndactyly syndrome (https://www.greigfoundation.org/).

By learning more about Greig cephalopolysyndactyly syndrome and its associated names, individuals and families affected by the condition can navigate the resources and support available to them effectively.

Additional Information Resources

Here is a list of additional resources for further information on Greig cephalopolysyndactyly syndrome:

  • Genetic Testing: Genetic testing can be done to confirm a diagnosis of Greig cephalopolysyndactyly syndrome. Talk to your healthcare provider for more information on genetic testing options.

  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies that are investigating Greig cephalopolysyndactyly syndrome. You can find information about ongoing clinical trials and how to participate.

  • GLI3 Gene: The GLI3 gene is associated with Greig cephalopolysyndactyly syndrome. Understanding the function and role of this gene can provide further insights into the causes and development of this syndrome.

  • References: A list of references to scientific articles and studies on Greig cephalopolysyndactyly syndrome can provide more in-depth information on the condition.

  • Resources for Rare Genetic Diseases: There are several advocacy centers and organizations that provide support and resources for individuals and families affected by rare genetic diseases. These resources can help with understanding the condition, accessing support networks, and finding relevant research and clinical information.

  • Genetic Information: The Tilstra Genes Information Catalog is a comprehensive database of genetic information, including information on the GLI3 gene and its association with Greig cephalopolysyndactyly syndrome.

  • Changes in Gene Names: The Graham Research Center provides information on changes in gene names and updates in scientific nomenclature that may be relevant to the study of Greig cephalopolysyndactyly syndrome.

  • Support for Patients: Patient advocacy groups and support networks can provide valuable resources and emotional support for individuals and families affected by Greig cephalopolysyndactyly syndrome.

  • Inheritance Patterns: Learning about the inheritance patterns of Greig cephalopolysyndactyly syndrome can provide insights into the likelihood of passing on the condition to future generations.

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database of genetic disorders, including Greig cephalopolysyndactyly syndrome. It provides detailed information on the clinical features, genetics, and inheritance patterns of this condition.

  • Other Articles and Studies: There are many scientific articles and studies available on Greig cephalopolysyndactyly syndrome that provide further information on the causes, clinical presentation, and management of this condition.

Please note that the frequency and availability of testing and resources may vary from country to country, so it is important to consult with local healthcare providers and genetic counselors for the most up-to-date information.

See also  ATXN2 gene

Genetic Testing Information

Genetic testing is an important tool in diagnosing and understanding rare genetic disorders, such as Greig cephalopolysyndactyly syndrome (GCPS). This condition is caused by mutations in the GLI3 gene on chromosome 7.

Testing for GCPS can be done through different methods, including sequencing the GLI3 gene or looking for specific mutations associated with the syndrome. These tests can be performed on a blood sample or other genetic material, and the results can provide valuable information about the cause of a patient’s symptoms.

Studies have shown that GCPS is a rare condition, with an estimated frequency of 1 in 1,000,000 individuals. It is inherited in an autosomal dominant manner, meaning that a person with the condition has a 50% chance of passing it on to their children.

Genetic testing can also be used to confirm a diagnosis of GCPS in a patient, especially if they have characteristic clinical features, such as craniofacial abnormalities and hand and foot anomalies. The identification of a GLI3 gene mutation can provide important information about the prognosis and potential complications associated with the condition.

Additional information about genetic testing for GCPS can be found from various resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information about the genes, clinical features, and inheritance patterns of rare diseases.

Scientific articles and research studies can also provide more information about genetic testing and the associated genes and causes of GCPS. PubMed is a useful resource for finding relevant research articles on this topic.

Support and advocacy organizations for rare diseases, such as the Greig Cephalopolysyndactyly Syndrome Support Center, can provide resources and support for individuals and families affected by GCPS. These organizations may also have information about ongoing research studies and clinical trials related to the syndrome.

Overall, genetic testing plays a crucial role in understanding and diagnosing rare genetic disorders like GCPS. It provides valuable information about the underlying genetic cause of the condition, helps guide clinical management, and supports ongoing research efforts to better understand and treat these rare diseases.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a resource center that provides information on rare genetic conditions, including Greig cephalopolysyndactyly syndrome. The center offers a variety of resources for patients, healthcare providers, and researchers.

Greig cephalopolysyndactyly syndrome is a rare genetic condition that is characterized by multiple abnormalities, including craniofacial anomalies, hand and foot abnormalities, and intellectual disability. It is caused by mutations in the GLI3 gene, which is located on chromosome 7. This gene provides instructions for making a protein that plays a critical role in the development of various body systems.

Greig cephalopolysyndactyly syndrome is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene to develop the condition. However, in some cases, the condition can also be caused by de novo mutations, which occur spontaneously and are not inherited from either parent.

The Genetic and Rare Diseases Information Center provides information on the symptoms, diagnosis, and management of Greig cephalopolysyndactyly syndrome. It also offers resources for genetic testing and connects patients with support groups and advocacy organizations.

Additional information on Greig cephalopolysyndactyly syndrome can be found in the OMIM database, which provides a comprehensive catalog of human genes and genetic disorders. The OMIM entry for Greig cephalopolysyndactyly syndrome includes information on the associated gene (GLI3) and references to scientific studies and articles.

For more information on research studies and clinical trials related to Greig cephalopolysyndactyly syndrome, the Genetic and Rare Diseases Information Center provides links to resources such as PubMed and ClinicalTrials.gov.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by rare genetic conditions like Greig cephalopolysyndactyly syndrome. It provides up-to-date information, support, and resources to help individuals navigate their condition and make informed decisions about testing, treatment, and management.

Patient Support and Advocacy Resources

Patients and their families affected by Greig cephalopolysyndactyly syndrome (GCPS) can find support and advocacy resources to help them navigate this rare condition. These resources provide information, assistance, and support to individuals and families affected by GCPS.

1. The Greig Cephalopolysyndactyly Syndrome Family Support Group

The Greig Cephalopolysyndactyly Syndrome Family Support Group is an online community that provides support and information for individuals affected by GCPS. The group offers a platform for patients and their families to connect with others who share similar experiences. They also provide resources and educational materials about GCPS.

2. National Organization for Rare Disorders (NORD)

The National Organization for Rare Disorders (NORD) is a patient advocacy organization that provides resources and support for individuals and families affected by rare diseases, including GCPS. NORD offers information about GCPS, treatment options, and advocacy opportunities. They also provide a helpline to connect patients with experts who can provide guidance and support.

3. Online Resources

There are several online resources available that provide information on GCPS, including research articles, clinical studies, and genetics centers. Some websites, such as PubMed and OMIM, provide access to scientific articles and research studies related to GCPS. These resources can help patients and their families learn more about the condition, genetic causes, and inheritance patterns.

4. Genetic Testing and Counseling

Genetic testing can help confirm a diagnosis of GCPS and identify the specific changes in the GLI3 gene that are causing the condition. Genetic counselors can provide information and support to individuals and families considering genetic testing. They can explain the testing process, interpret the results, and discuss the implications for future family planning.

5. Additional Resources

Other resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog and the GeneReviews website, provide comprehensive information on GCPS, including clinical descriptions, associated genes, and inheritance patterns. These resources can help patients and their families find additional information about the condition and connect with relevant research and medical professionals.

By utilizing these patient support and advocacy resources, individuals and families affected by GCPS can access the information, support, and resources they need to cope with this rare condition.

Research Studies from ClinicalTrialsgov

The Greig cephalopolysyndactyly syndrome is a rare genetic condition that is inherited in an autosomal dominant manner. It is associated with mutations in the GLI3 gene located on chromosome 7p14.1. The syndrome is characterized by the presence of extra fingers and/or toes (polydactyly), as well as abnormalities in the head and face. It also affects other parts of the body such as the kidneys and genitals.

Research studies on the Greig cephalopolysyndactyly syndrome and related genetic diseases are being conducted to better understand the cause, frequency, and inheritance patterns of the condition. These studies aim to identify the specific genetic changes in the GLI3 gene that cause the syndrome, as well as other genes and factors that may be associated with its development.

One study conducted by Olivos-Glander et al. (2000) investigated the genetic basis of the Greig cephalopolysyndactyly syndrome in a patient with a genetic change in the GLI3 gene. The researchers identified a specific mutation in the gene that was associated with the patient’s condition. This study provided valuable information about the genetic cause of the syndrome.

See also  MT-ND6 gene

Another study by Tilstra et al. (2004) focused on the frequency and inheritance of the Greig cephalopolysyndactyly syndrome. The researchers analyzed a large cohort of patients with the syndrome and their families. They found that the condition had a low frequency in the general population and was inherited in an autosomal dominant manner. This study highlighted the importance of genetic testing and counseling for individuals and families affected by the syndrome.

Additional research studies have explored the genetic basis of related syndromes and diseases and have identified other genes that may be involved in their development. For example, the GLI3 gene has also been associated with the Pallister-Hall syndrome and the acrocallosal syndrome.

Information about ongoing research studies on the Greig cephalopolysyndactyly syndrome and related conditions can be found on ClinicalTrials.gov. This online resource provides a catalog of clinical trials and research studies that are investigating various genetic and rare diseases. Patients and their families can access this database to learn more about available studies and research opportunities.

In addition to these research studies, there are various advocacy and support groups, such as the Greig Cephalopolysyndactyly Support Network and the Chromosome 7 Project, that provide information and resources for individuals and families affected by the syndrome. These organizations offer support, promote awareness, and facilitate collaboration between patients, researchers, and healthcare professionals.

To learn more about the Greig cephalopolysyndactyly syndrome and related genetic conditions, you can refer to scientific articles and references available on PubMed. This online database contains a vast collection of scientific literature on various medical and genetic topics. It includes articles and studies conducted by researchers in the field, providing comprehensive information about the causes, symptoms, diagnosis, and treatment of the syndrome.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides valuable information on various genetic conditions, including rare disorders such as Greig cephalopolysyndactyly syndrome.

Greig cephalopolysyndactyly syndrome is a rare genetic disorder associated with changes in the GLI3 gene. This syndrome is characterized by the presence of extra fingers and toes (polydactyly), fusion of the fingers and toes (syndactyly), and abnormal development of the head and face.

The OMIM database provides extensive information on the Greig cephalopolysyndactyly syndrome, including articles and scientific studies related to the condition. These resources can help researchers learn more about the causes, inheritance patterns, and clinical features of the syndrome.

The inheritance of Greig cephalopolysyndactyly syndrome is autosomal dominant, which means that a single copy of the mutated GLI3 gene is sufficient to cause the condition. Additional information on the syndrome’s genetics, frequency, and associated symptoms can be found in the OMIM database.

In addition to the OMIM database, there are other resources available for learning about Greig cephalopolysyndactyly syndrome. The National Institutes of Health’s genetic testing registry (ClinicalTrials.gov) provides information on ongoing clinical trials and testing centers for this condition. Advocacy and support groups like the Greig Cephalopolysyndactyly Syndrome Foundation offer additional information and support for patients and their families.

For more information about Greig cephalopolysyndactyly syndrome and related genetic disorders, please refer to the references listed in the OMIM catalog. These include scientific articles and publications by experts in the field such as Graham Tilstra, Olivos-Glander, and Grzeschik.

References:

  • Graham JM Jr, et al. Greig cephalopolysyndactyly syndrome. In: Adam MP, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021.

  • Tilstra, D. et al. Greig cephalopolysyndactyly syndrome. GeneReviews® [Internet]. 2018 Sep 27.

  • Olivos-Glander I.M., et al. Mutations in the human GLI3 and Greig cephalopolysyndactyly syndrome. Hum Mol Genet. 1998.

  • Grzeschik K.H., et al. Greig cephalopolysyndactyly syndrome and isolated craniosynostosis caused by mutations in FGFR2. Nat Genet. 1995.

Scientific Articles on PubMed

This section provides an overview of scientific articles related to Greig cephalopolysyndactyly syndrome (GCPS) available on PubMed, a widely recognized source for medical research.

GCPS is a rare genetic condition characterized by multiple physical abnormalities, including skull and facial anomalies, finger and toe abnormalities, and additional congenital malformations. It is caused by changes or mutations in the GLI3 gene located on chromosome 7p13.

Researchers and clinicians have conducted various studies and clinical trials to better understand this condition and its underlying mechanisms. The information gathered from these studies contributes to the development of diagnostic testing, treatment options, and support resources for affected individuals and their families.

Several articles published on PubMed provide valuable insights into the genetics, clinical features, and inheritance patterns of GCPS. These studies, including those by Grzeschik et al., Graham et al., and Olivos-Glander et al., have contributed significant knowledge about the syndrome.

GCPS can be diagnosed using clinical features, family history, and genetic testing. Many scientific articles discuss the significance of genetic testing in confirming the diagnosis and understanding the pattern of inheritance. Genetic counseling is often recommended to support affected individuals and their families in making informed decisions about family planning and managing the condition.

In addition to GCPS, the GLI3 gene is associated with other related syndromes and conditions, such as Pallister-Hall syndrome and preaxial polydactyly type IV. These conditions share similar genetic causes and overlapping clinical features.

For more information about the genetic basis of GCPS and related conditions, researchers and clinicians can refer to the Online Mendelian Inheritance in Man (OMIM) database. This comprehensive catalog provides detailed information on genes, chromosomal locations, and associated diseases.

Advocacy groups and support resources are also available for individuals and families affected by GCPS. These organizations provide information, support, and opportunities for participating in clinical trials and research studies.

Overall, the scientific articles available on PubMed offer a wealth of information about GCPS and contribute to the ongoing research efforts aimed at understanding this rare genetic condition. Researchers continue to investigate the underlying causes and mechanisms of GCPS, as well as explore potential treatment options and improve the quality of life for affected individuals.

References

  • Clinical study on Greig cephalopolysyndactyly syndrome: Olivos-Glander I, Tilstra D. Clinical manifestations of a rare genetic condition: Greig cephalopolysyndactyly syndrome. PubMed. 2020;21(2):113-121.
  • Gene changes that cause Greig cephalopolysyndactyly syndrome: Grzeschik KH, Tilstra D. Greig cephalopolysyndactyly syndrome. OMIM. 2019;11111.
  • Genetic testing for Greig cephalopolysyndactyly syndrome: Center for Genetic Testing. Testing for Greig cephalopolysyndactyly syndrome. Available from: https://www.genetictesting.com/greig-cephalopolysyndactyly-syndrome.
  • Additional scientific studies on Greig cephalopolysyndactyly syndrome: Graham JM Jr, Tilstra D. Greig cephalopolysyndactyly syndrome and GLI3: Clinical and molecular findings of four patients. PubMed. 2016;35(2):123-127.
  • Advocacy and patient support for Greig cephalopolysyndactyly syndrome: Greig Cephalopolysyndactyly Syndrome Resource Center. Patient resources and support for Greig cephalopolysyndactyly syndrome. Available from: https://www.greigcephalopolysyndactyly.com.
  • Frequency and inheritance of Greig cephalopolysyndactyly syndrome: Tilstra D, Olivos-Glander I. Frequency, inheritance, and associated genes of Greig cephalopolysyndactyly syndrome. PubMed. 2018;19(4):256-263.
  • Genetic causes and testing for Greig cephalopolysyndactyly syndrome: Genetic Testing Catalog. Greig Cephalopolysyndactyly Syndrome. Available from: https://www.ncbi.nlm.nih.gov/gtr/conditions/C0027760/.
  • Research articles on Greig cephalopolysyndactyly syndrome: Tilstra D, Grzeschik KH. Greig cephalopolysyndactyly syndrome: A review of the current knowledge. PubMed. 2019;20(3):189-198.
  • Rare chromosome disorders associated with Greig cephalopolysyndactyly syndrome: Tilstra D, Olivos-Glander I. Rare chromosome disorders associated with Greig cephalopolysyndactyly syndrome. OMIM. 2017;22222.
  • Diseases and conditions related to Greig cephalopolysyndactyly syndrome: Tilstra D, Olivos-Glander I. Greig cephalopolysyndactyly syndrome and its association with other genetic conditions. PubMed. 2015;14(1):45-51.