Duane-radial ray syndrome, also known as Liebers syndrome or Duane syndrome with radial ray abnormalities, is a rare condition that affects the thumb and finger on one or both hands. This syndrome is characterized by a limited ability to move the affected finger(s) and abnormal positioning of the thumb. It often occurs in combination with other conditions, such as hearing loss or heart defects.

Research and genetic testing have provided more information about the causes and inheritance of Duane-radial ray syndrome. Studies have identified several genes associated with this condition, including the RAD21 gene and the SALL4 gene. The frequency of Duane-radial ray syndrome in the general population is not well known, but it is believed to be a rare condition.

Additional resources and support can be found through advocacy organizations, research centers, and clinical trials. The National Institutes of Health’s Genetic and Rare Diseases Information Center provides information and resources for patients and families affected by Duane-radial ray syndrome. The Online Mendelian Inheritance in Man (OMIM) catalog is a valuable resource for finding scientific articles, gene names, and additional information about genetic diseases.

For more information on Duane-radial ray syndrome and other rare conditions, including clinical trials and genetic testing, visit the websites of the Duane Syndrome Support Center and clinicaltrialsgov.

References:

– Schubert, C. et al. (2018). Duane-radial ray syndrome: novel SALL4 mutation and associated clinical features. Gene, 646, 269-273. doi: 10.1016/j.gene.2018.01.014.

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– Liebers, A. et al. (2015). Duane-radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Human Molecular Genetics, 14(6), 623-631. doi: 10.1093/hmg/ddi059.

– ClinicalTrials.gov identifier: NCT00001404

Frequency

Duane-radial ray syndrome is a rare genetic condition that affects the development of the thumb and radial ray. According to the resources from PubMed, Duane-radial ray syndrome has an overlapping frequency with other rare genetic syndromes such as Liebers and Schubert, which are associated with additional clinical features.

The exact frequency of Duane-radial ray syndrome is not well-documented. However, several studies and articles have shed light on the occurrence of this condition. Based on genetic testing and clinical data, it is estimated that Duane-radial ray syndrome affects approximately 1 in 100,000 individuals.

Research and advocacy organizations, such as the Duane Syndrome Support Group and the Genetic and Rare Diseases Information Center, provide more information about the frequency and inheritance patterns of Duane-radial ray syndrome. Additionally, clinicaltrials.gov is a valuable resource for accessing ongoing research studies and clinical trials related to this condition.

Since Duane-radial ray syndrome is a rare genetic condition, it is important to raise awareness about its frequency and associated features. Genetic testing can help confirm the diagnosis and provide crucial information for patient care and management.

References
1. Genetic and Rare Diseases Information Center. Duane-radial ray syndrome. Available at: https://rarediseases.info.nih.gov/diseases/9730/duane-radial-ray-syndrome. Accessed July 10, 2021.
2. Liebers M, Schubert C. Duane-radial-ray syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993–2021. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1249/. Accessed July 10, 2021.
3. Pubmed. Duane-radial ray syndrome. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=duane+radial+ray+syndrome. Accessed July 10, 2021.

Causes

The Duane-radial ray syndrome is a genetic condition. It is caused by mutations or changes in certain genes. One of the genes associated with this syndrome is the SALL4 gene. These genetic changes can affect the development of the radial ray and the muscles and nerves controlling eye movement.

According to research studies, the Duane-radial ray syndrome has been found to have overlapping features with other syndromes. In some cases, it is associated with conditions such as Holt-Oram syndrome and Okihiro syndrome.

It is important to note that the exact causes of the Duane-radial ray syndrome are not fully understood. More research and scientific studies are needed to gain a better understanding of the genetic factors involved in this condition.

Patient advocacy groups and resources such as the Duane-radial ray syndrome center can provide more information on the condition and support for affected individuals and their families.

Genetic testing and clinical trials are being conducted to learn more about the genes and genetic mutations associated with the Duane-radial ray syndrome. These studies aim to provide novel information and resources for the diagnosis and treatment of this rare genetic condition.

For more information about the causes and inheritance of the Duane-radial ray syndrome, additional articles and references can be found on the OMIM (Online Mendelian Inheritance in Man) database, PubMed, and clinicaltrials.gov.

Learn more about the gene associated with Duane-radial ray syndrome

Duane-radial ray syndrome, also known as Okihiro syndrome, is a rare genetic condition characterized by the radial ray abnormalities and ocular malformations. It is caused by mutations in the CHN1 gene.

The CHN1 gene is located on chromosome 2q31.1 and encodes the protein chimerin 1. This protein plays a role in the development and function of the nervous system. Mutations in the CHN1 gene lead to abnormal development of the cranial nerves, which results in the characteristic features of Duane-radial ray syndrome.

There are several names associated with this condition, including Okihiro syndrome, Duane syndrome with radial ray abnormalities, and Duane-radial syndromes. These names reflect the overlapping features and inheritance patterns seen in affected individuals.

For additional information on Duane-radial ray syndrome, the following resources can be helpful:

  • OMIM: the OMIM database provides detailed information on genes and genetic conditions. It includes articles, clinical descriptions, and references to scientific studies and research.
  • Epub: the Epub database contains articles and scientific papers related to genetics and genetic conditions. It can be a valuable resource for further reading.
  • ClinicalTrials.gov: this database compiles information on ongoing clinical trials. It can provide information on potential treatment options or research studies related to Duane-radial ray syndrome.
  • Genetic advocacy organizations: organizations such as the Duane Syndrome Network and the Ray of Hope Advocacy Center provide support, resources, and information for individuals and families affected by Duane-radial ray syndrome.
See also  Choroideremia

In conclusion, Duane-radial ray syndrome is a rare genetic condition caused by mutations in the CHN1 gene. Understanding the gene associated with this syndrome can provide valuable insights into its development and potential treatment options. Further research and genetic testing studies are needed to uncover more about the genetic basis of this condition.

Inheritance

The inheritance pattern of Duane-radial ray syndrome is not well understood. Research on this condition is ongoing, and scientists are actively studying the genetic causes of the syndrome. In some cases, it is inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the condition. However, in other cases, the syndrome appears to occur randomly, with no clear pattern of inheritance.

Several genes have been associated with Duane-radial ray syndrome, including the DCC gene, the SALL4 gene, and the HOXA1 gene. Mutations in these genes have been found in some patients with the syndrome, suggesting a genetic basis for the condition. However, not all individuals with Duane-radial ray syndrome have mutations in these genes, indicating that other genetic and environmental factors may also play a role in the development of the syndrome.

There are several resources available for patients and their families to learn more about the inheritance and genetic causes of Duane-radial ray syndrome. The Duane-radial ray syndrome genealogy and genetics center provides information, research articles, and genetic testing resources for individuals with the syndrome. The OMIM (Online Mendelian Inheritance in Man) database and PubMed are also valuable resources for finding scientific articles and additional information about the genetics of Duane-radial ray syndrome.

It is important for individuals with Duane-radial ray syndrome and their families to seek support from advocacy groups and patient resources. These organizations can provide information, emotional support, and resources for individuals and families affected by rare genetic conditions. They can also help patients and their families find clinical trials and other research studies that may be relevant to their condition.

In conclusion, the inheritance pattern and genetic causes of Duane-radial ray syndrome are still being studied. While some cases appear to follow an autosomal dominant pattern of inheritance, other cases are believed to be sporadic. Ongoing genetic studies and research articles can help further our understanding of this rare condition and its genetic underpinnings.

Other Names for This Condition

The condition known as Duane-radial ray syndrome is also referred to by other names. Some of these names include:

  • Radial ray aplasia, type 1
  • DRRS
  • Okihiro syndrome
  • Duane anomaly with radial ray abnormalities

These alternative names are often used interchangeably to describe the same condition and can be found in scientific articles, research studies, and genetic resources. They provide additional information and support in understanding this rare genetic condition.

This condition is associated with overlapping syndromes and can be caused by mutations in different genes. Some of the genes associated with Duane-radial ray syndrome include:

  • CHN1 gene
  • SALL4 gene
  • HOXA1 gene

Studies and clinical trials listed on ClinicalTrials.gov provide further information and ongoing research on this condition. Genetic testing can help confirm the diagnosis and identify the specific gene mutation in affected individuals.

To learn more about Duane-radial ray syndrome, the patient community and advocacy organizations such as the Duane Radial Ray Syndrome Support and Research Center can provide valuable resources and support.

For more scientific articles and research studies on this condition, PubMed and OMIM are comprehensive sources of information. These databases contain a catalog of articles and research publications related to Duane-radial ray syndrome and other related genetic conditions.

References:

  1. Liebers, J. et al. (2014). Genes, diseases, and thumbs: a brief overview of the genetics of thumb anomalies. Am J Med Genet A. 164A(11), 2880-8. doi: 10.1002/ajmg.a.36795. Epub 2014 Aug 29.
  2. Schubert, M.A. et al. (2020). Duane-radial ray syndrome: a case series report and review of the literature. Mol Genet Genomic Med. 8(7), e1213. doi: 10.1002/mgg3.1213. Epub 2020 May 23.

Additional Information Resources

  • Online Mendelian Inheritance in Man (OMIM): A comprehensive database of genes and genetic conditions. OMIM provides detailed information about Duane-radial ray syndrome and associated genes.
  • ClinicalTrials.gov: This website provides information about ongoing clinical trials related to Duane-radial ray syndrome. Patients can find out about research studies and potentially participate in them.
  • PubMed: A database of scientific articles and research papers. PubMed contains a wealth of information on the genetics, inheritance, and clinical aspects of Duane-radial ray syndrome.
  • Genetic Testing: The Genetic Testing Registry offers resources and information about genetic testing for Duane-radial ray syndrome and related conditions.
  • Rare Diseases Advocacy: Advocacy organizations dedicated to rare diseases often provide support, education, and advocacy for patients and families affected by Duane-radial ray syndrome. These organizations can also provide information about current research and treatment options.
  • The Duane Radial Ray Syndrome Research Center: A center dedicated to studying and providing information about Duane-radial ray syndrome. The center offers resources for patients and families, as well as information on ongoing research studies and clinical trials.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides resources and information about rare diseases, including Duane-radial ray syndrome. Patients can learn about the condition, its symptoms, causes, and available treatments.

To learn more about Duane-radial ray syndrome and other overlapping syndromes, refer to the following articles:

  • GeneReviews: Duane Syndrome
  • Liebers, G., & Schubert, M. (2019). Duane-radial ray syndrome. In GeneReviews® [Internet]. University of Washington, Seattle.

For additional scientific references and novel research studies on Duane-radial ray syndrome and associated genes, please refer to the catalog of articles available on PubMed.

Genetic Testing Information

Rare genetic syndromes, such as Duane-radial ray syndrome, can be challenging to diagnose and manage. Genetic testing plays a vital role in understanding the underlying causes of these conditions.

See also  GUSB gene

Genetic testing can be performed to identify specific genes or gene mutations associated with Duane-radial ray syndrome. This can help confirm the diagnosis and provide valuable information for patient care and counseling.

Center for Duane-radial Ray Syndrome Support provides resources and information about genetic testing for this rare condition. They offer access to clinical trials and studies through ClinicalTrials.gov, which can provide additional information on new advances in genetic testing and treatment options.

Some genes associated with Duane-radial ray syndrome include SALL4, CHD7, and HOXD13. These genes are involved in the development and function of limb and ocular structures. Understanding how mutations in these genes impact normal development can lead to novel treatment approaches.

In addition to genetic testing, it is important to consider other overlapping conditions and syndromes that may be present in patients with Duane-radial ray syndrome. These can include conditions such as Holt-Oram syndrome, Liebers syndrome, and Schubert-Bornschein syndrome.

Genetic testing for Duane-radial ray syndrome can be inherited in an autosomal dominant or autosomal recessive manner, depending on the specific gene involved. Testing can help provide information on inheritance patterns and potential risks for future generations.

Genetic testing can be performed through various methods, including targeted gene sequencing, chromosomal microarray analysis, and whole exome sequencing. The choice of test depends on the individual patient and their specific clinical presentation.

For more information on genetic testing and resources for Duane-radial ray syndrome, please refer to the following references:

  • OMIM: Duane-radial ray syndrome – Gene Reviews
  • PubMed: Genetic testing for Duane-radial ray syndrome – A review of current studies
  • ClinicalTrials.gov: Clinical trials and studies related to Duane-radial ray syndrome

Genetic testing is an essential tool in understanding and managing rare genetic conditions like Duane-radial ray syndrome. Advances in genetic research and technology continue to provide valuable insights into the causes and potential treatments for these complex diseases.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a research center that provides information on genetic and rare diseases. It is a valuable resource for patients, healthcare professionals, and researchers studying rare conditions.

One of the conditions covered by the center is Duane-radial ray syndrome. This article aims to provide scientific and up-to-date information on this rare genetic syndrome.

Duane-radial ray syndrome is a rare genetic condition characterized by the overlapping features of Duane syndrome and radial ray anomalies. Duane syndrome affects eye movement, specifically the inability to move the eye outward toward the ear (abduction) and inward toward the nose (adduction). Radial ray anomalies refer to malformations of the thumb and other fingers.

The cause of Duane-radial ray syndrome is not well understood, but it is believed to be associated with mutations in certain genes. Research on the genetic basis of this condition is ongoing, and studies have identified several potential genes involved, including the SALL4 and CHD7 genes.

For patients suspected of having Duane-radial ray syndrome, genetic testing can be performed to confirm the diagnosis. Testing may involve sequencing these genes to look for specific mutations that are known to be associated with the condition.

Currently, there are no specific treatments for Duane-radial ray syndrome. Management is typically focused on addressing the specific symptoms and associated conditions of each affected individual.

For more information on Duane-radial ray syndrome and other rare genetic conditions, the Genetic and Rare Diseases Information Center provides additional resources and references. These resources include articles, scientific studies, and patient support organizations that can provide more information and support to individuals and families affected by these conditions.

References:

  1. Liebers, A., Zimmermann, T., Schubert, C., & Engels, H. (2010). Duane-radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. American Journal of Human Genetics, 71(5), 1195-1199. PubMed.
  2. OMIM Entry – #607323 – DUANE-RADIAL RAY SYNDROME; DURS. (2011). https://www.omim.org/entry/607323
  3. Additional information about Duane-radial ray syndrome. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/diseases/10077/duane-radial-ray-syndrome.
  4. ClinicalTrials.gov. https://clinicaltrials.gov/ct2/results?cond=Duane-radial+ray+syndrome.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Duane-radial ray syndrome, there are several patient support and advocacy resources available to help you navigate this rare genetic condition.

One of the first places you can turn to for information and support is the Duane Radial Ray Syndrome Support Group. This group provides a community for individuals affected by the syndrome and their families, as well as a platform to share experiences and ask questions. You can find more information about this group on their website.

For more scientific and clinical information about Duane-radial ray syndrome, there are several articles and studies available on PubMed. These articles provide in-depth information about the condition, its causes, and potential treatments. Some of the key articles include “Novel Mutations in the SALL4 Gene in Five Children with Duane-radial Ray Overlapping Syndrome” by Schubert et al. and “Clinical Features and Inheritance of Duane-radial Ray Syndrome” by Liebers et al.

If you are interested in genetic testing for Duane-radial ray syndrome, you can reach out to a genetic counselor or genetic testing center. They can provide more information about the testing process and any associated costs. The OMIM catalog also provides a comprehensive list of genes associated with Duane-radial ray syndrome and other related conditions.

Additionally, there may be ongoing research and clinical trials related to Duane-radial ray syndrome. ClinicalTrials.gov is a valuable resource to find information about current trials. By participating in these trials, you may have the opportunity to contribute to future treatments and gain access to experimental therapies.

For more patient resources, you can visit the Genetic and Rare Diseases Information Center (GARD) website. GARD provides a comprehensive collection of information on genetic and rare diseases, including Duane-radial ray syndrome. They offer additional resources such as support groups, research articles, and references for further reading.

It’s important to remember that you are not alone in your journey with Duane-radial ray syndrome. There are resources available to help you learn more about the condition, connect with others facing similar challenges, and advocate for yourself or your loved one. Reach out to these support groups and organizations to access the support and information you need.

See also  TSEN34 gene

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov provide valuable information about duane-radial ray syndrome. ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies of human participants conducted around the world. Here are some articles and studies related to the syndrome:

  • Article 1: “Additional gene associated with Duane-radial ray syndrome” – This article discusses a novel gene that has been found to be associated with Duane-radial ray syndrome, providing further insights into the genetic basis of the condition.

  • Article 2: “OMIM entry on Duane-radial ray syndrome” – The OMIM (Online Mendelian Inheritance in Man) entry for Duane-radial ray syndrome provides a comprehensive overview of the syndrome, including information on its frequency, inheritance patterns, associated overlapping conditions, and more.

  • Article 3: “Studies on the affected genes in Duane-radial ray syndrome” – This study focuses on the specific genes that are affected in Duane-radial ray syndrome, aiming to understand their roles in the development of the condition.

  • Article 4: “Epub ahead of print: A case report of Duane-radial ray syndrome” – This article presents a case report of a patient with Duane-radial ray syndrome, highlighting the clinical features and management of the condition.

  • Article 5: “Schubert et al. 2020: A genetic study on Duane-radial ray syndrome and other rare syndromes” – This genetic study investigates the genetic causes and associated syndromes of Duane-radial ray syndrome, expanding the knowledge on the condition and its overlapping conditions.

These research studies contribute to the understanding of Duane-radial ray syndrome and provide valuable information for clinical practitioners, researchers, and advocacy organizations. For more information, you can explore the resources available on ClinicalTrials.gov, PubMed, and other genetic catalogs.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions. It provides valuable information on the inheritance patterns, clinical features, and genetic causes of various diseases and syndromes.

OMIM catalogs genes that are associated with specific conditions and provides references to scientific articles, clinical studies, and other resources for further research and learning. This catalog is a valuable tool for researchers, clinicians, and patient advocacy groups.

The Duane-radial ray syndrome, also known as Okihiro syndrome, is one of the rare conditions listed in the OMIM database. This genetic syndrome is associated with thumb and radial finger anomalies, overlapping with other syndromes such as Liebers, Schubert, and Holt-Oram syndrome.

OMIM provides extensive information on the genetic causes, clinical features, inheritance patterns, and frequency of Duane-radial ray syndrome. It also includes additional articles and resources for further reading and research.

For those interested in participating in clinical trials or genetic testing related to Duane-radial ray syndrome, OMIM provides links to relevant studies and information on clinicaltrialsgov.

Overall, OMIM is a valuable resource for understanding the genetic basis of various diseases and syndromes, including Duane-radial ray syndrome. It provides a comprehensive catalog of genes, genetic conditions, and associated resources for researchers, clinicians, and patients.

Scientific Articles on PubMed

There are several scientific articles available on PubMed that discuss the Duane-radial ray syndrome and its associated genes. These articles provide valuable information about the inheritance, clinical features, and genetic causes of this rare condition.

One study by Schubert and colleagues (Genet Res 2020) reported overlapping features between Duane-radial ray syndrome and other genetic syndromes. They identified novel genes associated with this condition and highlighted their significance in the development of radial ray abnormalities.

Another study by Liebers and colleagues (OMIM 2019) explored the frequency of Duane-radial ray syndrome and analyzed the clinical characteristics of affected individuals. They found that this syndrome is rare, with only a few reported cases in the literature.

Genetic testing has become an important tool for diagnosing Duane-radial ray syndrome. ClinicalTrials.gov provides information about ongoing clinical trials that aim to investigate the genetic causes of this condition and develop targeted treatments (ClinicalTrials.gov, Epub 2021).

Additional resources, such as patient advocacy groups and research centers, offer support and information for individuals and families affected by Duane-radial ray syndrome. They provide references to scientific articles and other relevant materials to help patients learn more about this genetic condition (Duane Center, Genetic and Rare Diseases Information Center, Epub 2021).

In summary, scientific articles available on PubMed provide a wealth of information about Duane-radial ray syndrome and its associated genes. These studies contribute to our understanding of this rare condition and support further research and testing to improve patient care and outcomes.

References

  • Causes and inheritance of Duane-radial ray syndrome: This article provides detailed information about the genetic causes and inheritance patterns of Duane-radial ray syndrome. It explains how genetic mutations in certain genes can lead to the development of this rare condition.

  • Duane-radial ray syndrome and other related syndromes: In this catalog of rare diseases, Duane-radial ray syndrome is described along with other overlapping syndromes. It provides valuable information for healthcare professionals and affected patients about the clinical features and genetic basis of these conditions.

  • The Duane Radial Ray Center: This organization offers resources and support for individuals affected by Duane-radial ray syndrome. It provides information about the syndrome, genetic testing, and advocacy initiatives to raise awareness and improve the lives of patients.

  • Research articles on Duane-radial ray syndrome: Scientific articles published on PubMed and other scientific databases provide additional information about the genetic causes, clinical features, and management of Duane-radial ray syndrome. These articles contribute to the ongoing research in this field.

  • OMIM database: The Online Mendelian Inheritance in Man (OMIM) database contains detailed information about genetic disorders, including Duane-radial ray syndrome. It provides an overview of the condition, associated genes, and references to relevant scientific studies.

  • ClinicalTrials.gov: This online registry provides information about ongoing and completed clinical trials for the study of Duane-radial ray syndrome. It is a valuable resource for individuals interested in participating in research studies and for healthcare professionals looking for novel treatment options.