Russell-Silver syndrome

Russell-Silver syndrome (RSS) is a rare genetic condition that is characterized by slow growth, distinct facial features, and other physical and developmental abnormalities. It was first described in 1953 by Dr. Henry Silver and Dr. Alexander Russell. RSS affects an estimated 1 in 50,000 to 100,000 live births, making it a relatively rare condition.

The exact causes of RSS are still not fully understood, but researchers believe that it may be caused by changes in certain genes. There is currently no specific diagnostic test for RSS, but a genetic test called gene copy number analysis can provide additional information about the condition. Gene testing helps identify the specific gene or genes that are affected, and can help confirm a diagnosis for an individual patient.

Studies have shown that RSS is not inherited in a predictable pattern, which means that it can occur sporadically in families without a history of the condition. In some cases, RSS may be inherited from a parent who has a rearrangement of chromosomes. The most common genetic abnormality associated with RSS is a disruption of the imprinting process of certain genes on chromosome 11.

The symptoms of RSS can vary from person to person, but some common features include short stature, a small head size, a triangular-shaped face, low birth weight, and feeding difficulties in infancy. Individuals with RSS may also experience learning disabilities, delayed motor development, and behavioral problems.

Currently, there is no cure for RSS, but there are treatment options available to help manage the symptoms and support the overall development of affected individuals. Early intervention and ongoing support from a team of healthcare professionals, including geneticists, endocrinologists, and developmental specialists, can play a critical role in improving the outcomes for individuals with RSS.

For more information about Russell-Silver syndrome, scientific research, and available resources, interested individuals can refer to reputable sources such as PubMed, OMIM, and the Russell-Silver Syndrome Foundation. ClinicalTrials.gov is also a valuable resource for information about ongoing research studies and clinical trials related to RSS.

Frequency

Russell-Silver syndrome is a rare condition that affects a small percentage of the population. Research studies and clinical trials have provided valuable information and resources to learn more about this syndrome.

The frequency of Russell-Silver syndrome can vary depending on the population being studied. On average, it is estimated to occur in about 1 in 30,000 to 1 in 100,000 births.

Genetic and genomic testing are often used to diagnose individuals with Russell-Silver syndrome. Testing can help identify specific genes or chromosomal abnormalities associated with the condition. Some of the genes associated with Russell-Silver syndrome include H19, IGF2, CDKN1C, and PLAG1.

Inheritance of Russell-Silver syndrome can vary. In some cases, it may be inherited from one of the parents who carries a copy of the affected gene or chromosomal abnormality. In other cases, it may occur sporadically, without a family history of the condition.

Common symptoms of Russell-Silver syndrome include slow growth, especially before birth and during early childhood, a small head size, and a variety of physical characteristics. Each individual with the syndrome may experience a different combination of symptoms, making it important to undergo clinical testing for an accurate diagnosis.

Additional information and resources about Russell-Silver syndrome can be found through organizations such as the Russell-Silver Syndrome Foundation and the Seattle Children’s Hospital Russell-Silver Syndrome Center. These resources provide support, advocacy, and up-to-date information for patients, families, and healthcare professionals.

ClinicalTrials.gov and PubMed are valuable sources for finding scientific articles and clinical trials related to Russell-Silver syndrome. These resources can provide further insight into the condition and ongoing research studies.

References:

  1. Eggermann, T., & Begemann, M. (2020). Silver–Russell syndrome: genetic basis and molecular genetic testing. Orphanet Journal of Rare Diseases, 15(1), 1-15.
  2. Monk, D., & Harbison, A. (2019). What is Russell-Silver syndrome?. Journal of Pediatric Genetics, 8(2), 57-63.
  3. OMIM (Online Mendelian Inheritance in Man). Russell-Silver Syndrome; RSS. [Internet]. (2019). Retrieved from: https://www.omim.org/entry/180860.
  4. Russell-Silver Syndrome Foundation. About RSS. [Internet]. Retrieved from: https://www.rss.foundation/about-rss.
  5. Seattle Children’s Hospital. Russell-Silver Syndrome Center. [Internet]. Retrieved from: https://www.seattlechildrens.org/clinics/russell-silver-syndrome/.

Causes

Russell-Silver syndrome is a rare condition that is usually caused by genetic changes. These genetic changes can occur in different genes or chromosomes. The exact cause of Russell-Silver syndrome is still not fully understood, but research is ongoing to learn more about the genetic factors that contribute to the development of this syndrome.

There are several known genetic changes that have been associated with Russell-Silver syndrome. Some of these changes involve genes on chromosome 7 or chromosome 11. In about 10-20% of cases, the syndrome is caused by an alteration in a gene known as H19, which is found on chromosome 11.

In addition to these known genetic changes, there may be other genetic factors that contribute to the development of Russell-Silver syndrome. Ongoing research, including genetic testing and studies of patient DNA, is helping scientists to better understand the inherited genetic factors associated with this syndrome.

Russell-Silver syndrome is typically not inherited from parents in a simple dominant or recessive manner. Instead, it is thought to result from complex interactions between multiple genes and environmental factors. The syndrome can occur sporadically, with no family history, or it may be inherited from a parent who is also affected by the syndrome.

Diagnosis of Russell-Silver syndrome is based on the presence of specific clinical features and the identification of genetic changes associated with the syndrome. Genetic testing can be done to confirm the diagnosis and identify specific genetic changes that may be contributing to the syndrome.

Additional resources for information about the causes of Russell-Silver syndrome include the Online Mendelian Inheritance in Man (OMIM) catalog, scientific articles, and clinical trials listed on ClinicalTrials.gov.

Learn more about the genes and chromosomes associated with Russell-Silver syndrome

Russell-Silver syndrome is a rare condition that is associated with changes in certain genes and chromosomes. Researchers have identified several genes and chromosomal regions that may be involved in the development of this syndrome.

One of the most studied genes associated with Russell-Silver syndrome is the EGFR (eggermann) gene. Mutations in this gene have been found in some individuals with the condition. However, it is important to note that not all individuals with Russell-Silver syndrome have mutations in this gene, suggesting that other genes or chromosomal abnormalities may also play a role in the development of the condition.

Researchers have also identified other genes and chromosomal regions that may be associated with Russell-Silver syndrome, including the maternal uniparental disomy of chromosome 7 (UPD7). UPD7 occurs when an individual inherits both copies of chromosome 7 from one parent, instead of one copy from each parent. This genetic abnormality has been observed in a small percentage of individuals with Russell-Silver syndrome.

Diagnosis of Russell-Silver syndrome often involves genetic testing to look for mutations or chromosomal abnormalities associated with the condition. Individuals suspected to have the syndrome may undergo tests such as chromosomal microarray analysis, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA), or whole exome sequencing to identify any abnormalities in their genes or chromosomes.

Although the exact causes of Russell-Silver syndrome are not fully understood, research studies have provided valuable insights into the genetic factors that may contribute to its development. Further research is ongoing to better understand the frequency and inheritance patterns of gene mutations and chromosomal abnormalities associated with the syndrome.

If you are interested in learning more about the genes and chromosomes associated with Russell-Silver syndrome, there are several resources available. The OMIM (Online Mendelian Inheritance in Man) database and PubMed are scientific databases that provide information on genetic disorders and research articles. Additionally, the Genetic and Rare Diseases Information Center (GARD) and the Russell-Silver Syndrome Foundation provide support, resources, and advocacy for individuals and families affected by the syndrome.

For more information on ongoing research studies and clinical trials related to Russell-Silver syndrome, you can visit the clinicaltrials.gov website and search for relevant studies using keywords such as “Russell-Silver syndrome” or specific gene names associated with the condition.

References:

  1. Harbison, A. L., & Ellard, S. (2014). Russell-Silver Syndrome. In GeneReviews®. University of Washington, Seattle. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1514/
  2. Eggermann, T. (2019). Russell-Silver Syndrome. Gene. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6847347/

Inheritance

The Russell-Silver syndrome (RSS) is a rare genetic condition that is often associated with slow growth and other physical abnormalities. The syndrome is named after Henry Silver, an American pediatrician who first described the condition in 1953, and Alexander Russell, a British pediatrician who independently identified the syndrome in the same year.

See Also:  Genes B

Although the scientific understanding of the syndrome has grown over the years, the exact causes of RSS are still not fully understood. It is believed that most cases of RSS occur sporadically, meaning they are not inherited from the parents. However, some patients with RSS may have inherited the syndrome from a parent who carries the genetic mutations associated with the condition.

Research has shown that certain genes and genomic imprints play a role in the development of RSS. Patients with RSS may have alterations in their copies of certain genes or chromosomes, which can affect the normal growth and development of the body. However, the exact mechanisms by which these genetic changes lead to the symptoms of RSS are still under investigation.

Diagnosis of RSS is often based on the presence of characteristic physical features and growth patterns. Genetic testing can be performed to confirm the diagnosis and identify the specific genetic alterations associated with the syndrome.

The frequency of RSS is estimated to be about 1 in 50,000 live births. However, the actual prevalence of the syndrome may be higher, as many cases may go undiagnosed or misdiagnosed. It is important for medical professionals to be aware of the symptoms and clinical features of RSS in order to provide an accurate diagnosis and appropriate management.

There are several resources available for patients and families affected by RSS. The Seattle Children’s Hospital has a dedicated Russell-Silver syndrome center, which provides information about the syndrome, clinical trials, and resources for support. The clinicaltrials.gov and OMIM (Online Mendelian Inheritance in Man) databases also provide additional information and research studies related to RSS.

In conclusion, the inheritance of Russell-Silver syndrome can vary. While most cases are sporadic and not inherited, some patients may inherit the syndrome from a parent who carries the genetic mutations associated with the condition. Further research is needed to better understand the genetic basis of RSS and develop effective treatments for affected individuals.

Other Names for This Condition

Russell-Silver syndrome is a rare genetic condition that is often inherited and marked by slow growth before and after birth. It is also associated with certain physical and developmental abnormalities.

Other names for Russell-Silver syndrome include:

  • Silver-Russell syndrome
  • RSS
  • Russell-Silver dwarfism
  • Silver-Russell dwarfism
  • Silver dwarfism

Russell-Silver syndrome is caused by changes or abnormalities in certain genes and chromosomes. The exact causes of the condition are still not fully understood, but ongoing research aims to learn more about the genetic basis and inheritance patterns of the syndrome.

Diagnosis of Russell-Silver syndrome often involves clinical evaluation of the patient’s symptoms and physical characteristics. Genetic testing may also be performed to look for specific gene or chromosome abnormalities associated with the condition.

Support and advocacy organizations, such as the Russell-Silver Syndrome Foundation, provide resources, information, and support for individuals and families affected by the condition. They also fund research studies and clinical trials aimed at advancing our understanding of the syndrome and improving treatment options.

For more information about Russell-Silver syndrome and related scientific articles, studies, and references, you can visit resources such as PubMed, OMIM, and the ClinicalTrials.gov website.

References:

1.

Eggermann, T., et al. (2010). Russell-Silver syndrome: clinical, genetic, and molecular aspects.Endocrine Development. 17: 60-72.
2.

Harbison, A., et al. (2016). Russell-Silver Syndrome International Consensus Conference: Report. The Journal of Clinical Endocrinology & Metabolism. 101(5): 1847-1857.
3.

Monk, D. (2019). Russell-Silver Syndrome. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1522/

Resources:

Additional Information Resources

There are several resources available for obtaining additional information about Russell-Silver syndrome. These resources provide valuable information on various aspects of the condition, including its causes, inheritance patterns, symptoms, diagnosis, and treatment options.

Websites and Online Resources

  • National Organization for Rare Disorders (NORD): Russell-Silver Syndrome – NORD provides comprehensive information on Russell-Silver syndrome, including its genetic inheritance, symptoms, and available treatments.
  • Online Mendelian Inheritance in Man (OMIM): Russell-Silver Syndrome – OMIM is a comprehensive catalog of human genes and genetic disorders. Their page on Russell-Silver syndrome provides a detailed overview of the condition, including associated genes, chromosomal abnormalities, and references to scientific articles.
  • Seattle Children’s Russell-Silver Syndrome Clinic – The Russell-Silver Syndrome Clinic at Seattle Children’s Hospital offers specialized care for children with this condition. Their website provides information on diagnosis, testing, treatment, and support resources.

Genetic Testing and Diagnosis

  • Eggermann Laboratory – The Eggermann Laboratory specializes in diagnosing Russell-Silver syndrome and offers genetic testing services. Their website provides information on testing methods, turnaround times, and how to order a genetic test.
  • ClinicalTrials.gov – ClinicalTrials.gov is a database of clinical studies, including those related to Russell-Silver syndrome. You can search for ongoing or completed trials that investigate potential treatments, diagnostic tools, and management strategies for the condition.

Social and Support Resources

  • Russell-Silver Syndrome Foundation – The Russell-Silver Syndrome Foundation is a nonprofit organization that provides support, resources, and advocacy for individuals and families affected by the condition. Their website offers information on support groups, educational materials, and upcoming events.
  • PubMed – PubMed is a comprehensive database of scientific research articles. Searching for “Russell-Silver syndrome” on PubMed can provide access to the latest studies, clinical trials, and scientific findings related to the condition.

These resources can help individuals and families learn more about Russell-Silver syndrome, find support networks, and stay updated on the latest research and treatment options.

Genetic Testing Information

The Russell-Silver syndrome is a rare genetic condition that is usually caused by changes in certain genes. This condition is not dominant, meaning it can be inherited from either parent. People with Russell-Silver syndrome often have distinctive symptoms, such as slow growth, a small head, and body asymmetry.

Genetic testing can be helpful in diagnosing Russell-Silver syndrome and understanding its causes. By analyzing a person’s genes, scientists can determine if they have inherited specific genetic changes associated with the syndrome. This information can also help medical researchers understand more about the condition and develop new treatments.

There are several resources available for learning more about genetic testing for Russell-Silver syndrome. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed articles and studies on the condition and its associated genes. ClinicalTrials.gov is another valuable resource for finding information on ongoing research and clinical trials related to Russell-Silver syndrome.

Genetic testing for Russell-Silver syndrome typically involves analyzing the individual’s chromosomes. This means that a small sample of blood or other tissue is collected and sent to a specialized testing center, such as the Genetic Testing Laboratory at the University of Washington in Seattle. The laboratory will then examine the patient’s chromosomes to look for any abnormalities associated with the syndrome.

It’s important to note that genetic testing for Russell-Silver syndrome is not always necessary for diagnosis. A doctor can often make a diagnosis based on a person’s symptoms and physical characteristics. However, genetic testing can provide additional information and support for both patients and their families.

For more information on genetic testing for Russell-Silver syndrome, visit the websites mentioned above or consult with a genetic counselor or healthcare provider. They can provide more information on the testing process, the causes and inheritance of the condition, and any available support and advocacy resources.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a genomic catalog of rare diseases and associated genes. GARD provides information about genetic testing, diagnosis, and resources for patients and their families. It aims to support the diagnosis and treatment of rare diseases by providing up-to-date information on the latest research and clinical trials.

One rare condition that GARD provides information on is the Russell-Silver syndrome. This condition is characterized by slow growth both before and after birth. It is caused by changes in genes on chromosomes 7 and 11, although other genes may also be involved. The exact inheritance pattern of Russell-Silver syndrome is unclear, but it is thought to be a complex genetic condition with both genetic and environmental factors playing a role.

Some of the symptoms of Russell-Silver syndrome include a small head, a triangular-shaped face, feeding difficulties, and poor growth. They may also have difficulty with coordination and learning disabilities.

See Also:  CRLF1 gene

To diagnose Russell-Silver syndrome, genetic testing can be done to look for changes in the genes associated with the condition. More research is needed to fully understand the causes and mechanisms of this rare condition.

The Genetic and Rare Diseases Information Center is a valuable resource for patients and their families affected by rare diseases. It provides information on diagnosis, genetic testing, and available treatments. GARD also provides support and advocacy for rare disease patients and their families.

References and additional resources for learning more about Russell-Silver syndrome and other rare diseases can be found on the GARD website. Some additional resources include PubMed, OMIM, and the ClinicalTrials.gov website, which provides information on ongoing clinical trials for rare diseases.

Patient Support and Advocacy Resources

Patients and their families impacted by Russell-Silver syndrome can find support and advocacy resources to help them navigate the challenges of this rare genetic condition.

Below are some articles, advocacy groups, and other means of support for patients:

  • Russell-Silver Syndrome Support and Advocacy Groups:
    • RSS Support Group (www.rsssuk.org)
    • Russell-Silver Syndrome Foundation (www.rssf.org)
  • Educational Resources for Patients and Families:
  • Scientific Studies and Research:
    • Eggermann T. et al. Russell-Silver Syndrome: Clinical and Molecular Studies. Genomic Medicine. 2010; published online
    • Harbison MD. et al. Russell-Silver Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Uniparental Isodisomy Mosaicism. Pubmed. 2006 Aug 16
  • Genetic Testing and Diagnostic Services:
    • Seattle Children’s Russell-Silver Syndrome Diagnostic Program (www.seattlechildrens.org/clinics/russell-silver-diagnostic-program)
  • Additional Patient Resources:

These resources provide valuable information about the causes, symptoms, diagnosis, and inheritance of Russell-Silver syndrome. They also offer patient support, research updates, and opportunities to participate in clinical trials.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a resource that provides information on clinical research studies from around the world. It is a valuable tool for patients, researchers, and healthcare professionals to learn more about ongoing studies related to rare conditions such as Russell-Silver syndrome.

One of the primary goals of these research studies is to better understand the inheritance and genomic causes of Russell-Silver syndrome. By studying the genes and chromosomes of patients with this condition, researchers can identify any genetic mutations or copy number variations that may be associated with the syndrome.

The research studies conducted on Russell-Silver syndrome involve a variety of methods, including genetic testing, patient interviews, and medical examinations. These studies aim to collect additional information about the symptoms and characteristics of the condition, as well as any associated health issues or complications that individuals with Russell-Silver syndrome may experience.

One example of a study conducted on Russell-Silver syndrome is the research led by Dr. Thomas Eggermann at the University of Lübeck in Germany. This study aimed to determine the frequency and clinical characteristics of Russell-Silver syndrome in the German population. By analyzing patient data and conducting thorough examinations, the researchers were able to provide valuable insights into the diagnosis and management of this rare genetic condition.

In addition to the research studies, ClinicalTrials.gov also provides resources and information about advocacy organizations, support groups, and scientific articles related to Russell-Silver syndrome. These resources can be helpful for patients, families, and healthcare professionals looking to learn more about the condition and connect with others who may be experiencing similar challenges.

Overall, the research studies from ClinicalTrials.gov play a crucial role in advancing our understanding of Russell-Silver syndrome. Through these studies, researchers aim to uncover the underlying genetic causes, develop diagnostic tools, and explore potential treatment options for individuals living with this rare condition.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides valuable information on various diseases and the associated genes that cause them.

OMIM is a comprehensive resource that allows researchers, clinicians, and advocacy groups to learn more about genetic disorders and their underlying genetic causes. It contains information on thousands of genes and diseases, including the Russell-Silver syndrome.

The catalog includes names of genes, their chromosomal location, and the copies of genes or chromosomes involved in causing the disease. For example, in Russell-Silver syndrome, it is caused by the loss of copy of genes on chromosome 7.

OMIM also provides information on the symptoms, inheritance patterns, and average frequency of the disease. It may also list additional resources for patient support, such as advocacy groups and research articles.

Scientists and researchers can use OMIM for genetic testing and diagnosis of Russell-Silver syndrome, as well as other rare diseases. The catalog also references scientific studies and research articles associated with the disease, which can further enhance understanding and treatment options.

In addition to OMIM, there are other resources available for genetic testing and diagnosis. The Genomic Medicine Clinic at the University of Washington in Seattle, for example, offers testing for Russell-Silver syndrome and other genetic conditions.

To learn more about ongoing clinical trials related to Russell-Silver syndrome and other genetic disorders, one can visit the website ClinicalTrials.gov. The site provides information on current studies and how to participate.

Overall, OMIM serves as a valuable catalog of genes and diseases, providing crucial information for research, diagnosis, and advocacy efforts in the field of genetics.

Scientific Articles on PubMed

The Russell-Silver syndrome is a rare genetic condition characterized by slow growth, distinctive facial features, and other physical and developmental abnormalities. It is often inherited from one parent and affects approximately 1 in 100,000 live births. Researchers have identified several genes associated with the syndrome, including the H19 and CDKN1C genes.

Testing for the Russell-Silver syndrome often involves genomic testing to check for alterations in these genes. This can help confirm the diagnosis and provide more information about the patient’s specific condition. Genetic testing can also be used to determine the inheritance pattern and identify other family members who may be at risk for the syndrome.

Scientific articles on PubMed provide valuable resources for learning more about the Russell-Silver syndrome. For example, a study by Harbison et al. identified a copy number variation in chromosome 11p15.5 as a common cause of the syndrome. The study found that approximately 30 percent of patients with the syndrome had this genetic alteration. This information can support the diagnosis and guide further testing and treatment.

Additional articles on PubMed, such as those by Monk et al. and Eggermann et al., discuss the clinical features and inheritance patterns of the Russell-Silver syndrome. These studies highlight the importance of genetic testing and provide insights into the underlying causes of the condition.

In addition to scientific articles, there are resources available on websites like OMIM (Online Mendelian Inheritance in Man) and clinicaltrialsgov that provide further information and research on the Russell-Silver syndrome. These resources can support clinicians, researchers, and advocacy groups in their efforts to better understand the condition and develop effective interventions.

Overall, scientific articles available on PubMed are a valuable source of information for those interested in learning more about the Russell-Silver syndrome. They support the diagnosis and management of the condition by providing insights into its causes, inheritance patterns, and associated genes. Researchers continue to conduct studies and publish articles to further our understanding of this rare genetic syndrome.

References

  • Russell-Silver Syndrome. (2022). In OMIM – Online Mendelian Inheritance in Man. Retrieved November 10, 2022, from https://www.omim.org/entry/180860
  • Monk, D., Harbison, A., & Eggermann, T. (2020). Russell-Silver Syndrome. In GeneReviews®. Seattle (WA): University of Washington, Seattle. Retrieved November 10, 2022, from https://www.ncbi.nlm.nih.gov/books/NBK1323/
  • Eggermann, T. (2010). Russell-Silver syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 154C(3), 355-364. doi: 10.1002/ajmg.c.30261
  • Russell-Silver syndrome. (n.d.). In Genetic and Rare Diseases Information Center (GARD). Retrieved November 10, 2022, from https://rarediseases.info.nih.gov/diseases/2287/russell-silver-syndrome
  • Russell-Silver syndrome. (n.d.). In ClinicalTrials.gov. Retrieved November 10, 2022, from https://www.clinicaltrials.gov/ct2/results?cond=Russell-Silver+Syndrome
  • Seuwen, A., Turan, S., & Niemitz, E. L. (2014). Epigenetic regulation of fetal growth and the impact of maternal nutrition. Genes & Nutrition, 9(1), 383. doi: 10.1007/s12263-013-0383-0

RECOMMENDED