Emanuel syndrome is a rare genetic condition associated with unbalanced translocation of chromosomes. It is also known as derivative 22 syndrome or supernumerary der(22)t(11;22) syndrome. This condition is caused by an additional genetic material on chromosome 22, which can lead to a range of developmental and health challenges.
Patients with Emanuel syndrome may have cognitive impairments, developmental delays, and physical abnormalities. Other symptoms may include facial dysmorphia, heart defects, kidney problems, and growth delays. Due to the rarity of the syndrome, there is limited information available on its prevalence and exact genetic inheritance patterns.
Research on Emanuel syndrome is ongoing, with studies focusing on understanding the underlying genes and mechanisms involved. Furthermore, studies are conducted to improve diagnosis and develop targeted treatments for patients with this condition. Scientific resources such as PubMed, OMIM, and clinicaltrials.gov provide more information on the latest research and clinical trials related to Emanuel syndrome.
Families affected by Emanuel syndrome often seek support and advocacy from organizations dedicated to rare diseases and genetic conditions. These organizations provide resources, support networks, and information on managing the condition. The Emanuel Support Group, for example, offers educational materials, support groups, and a database of families affected by Emanuel syndrome.
In conclusion, Emanuel syndrome is a rare genetic condition associated with unbalanced translocation of chromosomes. While more research is needed to understand the underlying genes and inheritance patterns, organizations and scientific resources provide valuable support, information, and research opportunities for families and individuals affected by this syndrome.
Frequency
The Emanuel syndrome is a rare genetic condition with a frequency estimated to be between 1 in 90,000 and 1 in 100,000 live births.
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Most cases of Emanuel syndrome are caused by a translocation between chromosomes 11 and 22. This translocation can occur as a result of an error during meiotic cell division in one of the parents. In about 80% of cases, the translocation is de novo, meaning it is not inherited from either parent. In the remaining 20% of cases, one of the parents carries a balanced translocation and has an increased risk of passing on the syndrome to their children.
Several catalog studies have been conducted to gather information on the frequency of Emanuel syndrome. These studies have provided valuable data for research and genetic counseling. The OMIM database, a comprehensive catalog of human genes and genetic disorders, lists the associated genes and their inheritance patterns for Emanuel syndrome.
Advocacy organizations and patient support groups play a crucial role in providing information about Emanuel syndrome, including resources for families and additional genetic research. One such organization is the Emanuel Syndrome Coalition, which provides support, resources, and advocacy for families affected by Emanuel syndrome. They also fund scientific research and clinical trials to better understand the condition and develop potential treatments.
| Resource | Description |
|---|---|
| OMIM | A comprehensive database providing information on genetic disorders |
| PubMed | A database of scientific articles and research papers |
| ClinicalTrials.gov | A registry of clinical trials investigating Emanuel syndrome and related conditions |
| Zackai Center | A renowned center specializing in genetic and rare diseases |
Through these resources, individuals can learn more about Emanuel syndrome, its associated genes, and clinical trials available for treatment. They can also find support from other families experiencing the condition and stay updated with the latest scientific advancements through articles in PubMed and other scientific publications.
Overall, due to its rare and unique nature, Emanuel syndrome requires further research and collaboration between healthcare professionals, researchers, advocacy organizations, and affected families to improve understanding, diagnosis, and treatment options for individuals with this condition.
Causes
Emanuel syndrome is a rare genetic condition caused by the presence of an additional derivative chromosome 22. This extra chromosome is obtained from a rearrangement involving chromosomes 11 and 22. It is also known as an unbalanced translocation. In most cases, this translocation occurs as a new and random event in the meiotic process and is not inherited from the parents.
The exact causes of Emanuel syndrome are still not fully understood. However, studies have shown that the rearrangement in chromosomes 11 and 22 leads to the creation of an unbalanced genetic material that results in the development of this syndrome. This imbalance affects the genes and their expression, leading to the signs and symptoms associated with Emanuel syndrome.
Research and scientific studies on Emanuel syndrome have provided valuable information about its causes. The syndrome is cataloged in online resources like OMIM (Online Mendelian Inheritance in Man) and PubMed, where articles and studies related to this genetic condition can be found. These resources can help medical professionals, researchers, and families affected by Emanuel syndrome to learn more about the condition and find support for further research and studies.
There is currently no cure for Emanuel syndrome, but research and genetic studies have provided important insights into its causes. Ongoing research studies, such as clinical trials registered on clinicaltrials.gov, aim to explore potential treatments and interventions to improve the health and well-being of individuals with Emanuel syndrome.
In conclusion, the causes of Emanuel syndrome are linked to the presence of an additional derivative chromosome 22 obtained from a rearrangement between chromosomes 11 and 22. This genetic condition is rare and has been associated with various health problems. Further research and studies are necessary to fully understand the underlying mechanisms and provide more resources and support for affected individuals and their families.
Learn more about the chromosomes associated with Emanuel syndrome
Emanuel syndrome is a rare genetic condition caused by a derivative chromosome resulting from a specific balanced translocation between chromosomes 11 and 22. This condition is also known as supernumerary der(22)t(11;22) syndrome.
Studies have shown that this translocation occurs during meiotic recombination in the parental germline. As a result, individuals with Emanuel syndrome inherit an extra copy of genetic material from both chromosomes 11 and 22.
The genes involved in this translocation are known as the EMAU (Emanuel syndrome associated with UPD) genes. These genes have been found to play a role in the development and functioning of various organs and systems in the body.
To learn more about the scientific and genetic aspects of Emanuel syndrome, you can refer to resources such as the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on genes, genetic disorders, and associated references.
In addition, the Emanuel Syndrome Global Network is a valuable source of support and information for families affected by this rare condition. The Zackai Catalog of Emanuel Syndrome provides a comprehensive list of genetic and clinical features, as well as additional references for further research.
ClinicalTrials.gov is another useful resource where you can find ongoing and completed clinical trials related to Emanuel syndrome. These trials aim to further understand the condition and explore potential treatment options.
To find more articles and publications about Emanuel syndrome, you can search PubMed, a database of scientific research articles. This will help you stay up to date with the latest advancements in the field.
Overall, the chromosomes associated with Emanuel syndrome, specifically the translocation between chromosomes 11 and 22, play a crucial role in the development and manifestation of this rare genetic condition. By learning more about the underlying genetic causes and associated health implications, we can better support individuals and families affected by Emanuel syndrome.
For more resources and information about Emanuel syndrome or other rare diseases, you can also reach out to organizations such as the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD).
Inheritance
Emanuel syndrome is a rare genetic condition that is inherited in a specific manner. It occurs in individuals who have an extra chromosome 22, often due to an unbalanced translocation. In about 90% of cases, one parent carries the balanced translocation, which involves a rearrangement of genetic material between chromosomes 11 and 22. The extra chromosome 22 in individuals with Emanuel syndrome is derived from this translocation.
Genetic research has shown that Emanuel syndrome is associated with additional health conditions and developmental delays. The specific symptoms and severity can vary from patient to patient, making it important for healthcare professionals to familiarize themselves with the clinical features of this syndrome. The Emanuel Syndrome Catalog, developed by Dr. Beverly S. Emanuel and Dr. Ian D. Krantz, provides a comprehensive list of the clinical features associated with the syndrome. It serves as a valuable resource for researchers, clinicians, and families affected by Emanuel syndrome.
Studies have also shown links between Emanuel syndrome and other rare genetic conditions. The underlying cause of these connections is still being investigated, but it is believed that the same genes and genetic pathways are affected in these different conditions. Further research is needed to fully understand the inheritance and genetic mechanisms involved in Emanuel syndrome.
For more information about Emanuel syndrome, including references to scientific articles and studies, advocacy and support resources, and ongoing clinical trials, a variety of resources are available. These include the OMIM (Online Mendelian Inheritance in Man) database, PubMed, and clinicaltrialsgov. These resources provide valuable information on the inheritance and genetic basis of Emanuel syndrome, as well as information on the frequency, names, and clinical features of other rare genetic syndromes.
| Resources | Description |
|---|---|
| OMIM | An online genetic database that provides information on the genetic basis of human diseases and syndromes. |
| PubMed | A database of scientific articles and research studies on various medical topics, including Emanuel syndrome. |
| ClinicalTrials.gov | A registry of ongoing clinical trials that includes information on studies related to Emanuel syndrome and other rare genetic conditions. |
| Advocacy and Support | Various organizations and support groups are available to provide information and assistance to families affected by Emanuel syndrome. |
By learning more about the inheritance and genetic basis of Emanuel syndrome, researchers and healthcare professionals can better understand the condition and potentially develop new treatments and interventions to improve the health and quality of life of individuals with Emanuel syndrome.
Other Names for This Condition
- Emanuel syndrome
- Derivative chromosome 22 syndrome
- Chromosome 22, derivative 11 syndrome
- Translocation 11,22
- der(22)t(11;22)
The Emanuel syndrome is also referred to by several other names, including derivative chromosome 22 syndrome, chromosome 22, derivative 11 syndrome, translocation 11,22, and der(22)t(11;22). These names describe different aspects of the condition and its genetic causes.
The Emanuel syndrome is a rare genetic condition characterized by an unbalanced translocation between chromosomes 11 and 22. It is usually caused by a specific rearrangement of genetic material during meiotic cell division.
Patients with Emanuel syndrome typically have a variety of clinical features, including developmental delays, intellectual disabilities, and multiple congenital abnormalities. The frequency of this syndrome is not well understood, but it is estimated to affect about 1 in 1000-1 in 20,000 live births.
Research and studies on the Emanuel syndrome aim to understand its genetic causes, associated diseases, and more about its clinical features. The OMIM catalog and PubMed are good resources to learn about additional scientific articles and studies on this rare genetic condition.
The Emanuel Syndrome Information Center provides support, resources, and information for families and patients affected by this condition. They offer advocacy and clinical trial information for those interested in participating in research studies. Additional support and resources can be found through genetic research centers and advocacy organizations.
Additional Information Resources
Here are some additional resources for further information and research on Emanuel syndrome:
- PubMed: A database of scientific articles, including those related to Emanuel syndrome. It can provide detailed information about the genetic causes, inheritance patterns, and clinical features of the syndrome.
- Chromosomes and Genes: Emanuel syndrome is a rare genetic condition caused by extra genetic material on chromosome 22. Learning more about chromosomes and genes can help in understanding the underlying mechanisms of this condition.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog contains information on various genetic disorders, including Emanuel syndrome. It provides detailed information on the genes and inheritance patterns associated with the syndrome.
- ClinicalTrials.gov: This website lists ongoing clinical trials related to Emanuel syndrome. It can provide information on current research and potential treatment options for patients with the condition.
- Advocacy and Support: There are organizations and advocacy groups that provide support and resources for families affected by Emanuel syndrome. These organizations can offer guidance, connect families with healthcare professionals and other families, and provide additional information on managing the condition.
- Derivative Articles: Derivative articles based on scientific research on Emanuel syndrome can provide a more accessible and comprehensive overview of the condition for patients, families, and healthcare professionals.
- Center for Rare Diseases: Some medical centers or institutes specialize in rare diseases and may have specific information and resources related to Emanuel syndrome.
By utilizing these resources, patients, families, and healthcare professionals can learn more about the causes, inheritance patterns, clinical features, and potential treatment options for Emanuel syndrome.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a resource that provides information about Emanuel syndrome. GARD gathers information from scientific studies, clinical trials, articles, and other references to support patients, families, and healthcare professionals in understanding and managing this rare genetic condition.
Emanuel syndrome, also known as derivative chromosome 22 syndrome, is a rare genetic disorder caused by an extra piece of genetic material associated with chromosome 22. It is named after the scientist Dr. Joan Emanuel, who first described the condition in 1982. The specific genetic cause of Emanuel syndrome is a derivative 22 translocation, where genetic material is exchanged between different chromosomes during meiotic division.
Symptoms and clinical features of Emanuel syndrome can vary widely among affected individuals. Common characteristics include developmental delays, intellectual disability, facial abnormalities, organ abnormalities, and growth deficiencies. The severity and combination of symptoms can vary, even among individuals with the same genetic mutation.
Genetic counselors, healthcare providers, and researchers are actively studying Emanuel syndrome to learn more about its causes, inheritance patterns, and associated health issues. Currently, research suggests that Emanuel syndrome is typically not inherited from parents but occurs spontaneously during early embryonic development. However, some cases have been reported in families with a translocation involving chromosome 22.
It is important for patients and families to have access to accurate and up-to-date information about Emanuel syndrome. GARD provides resources such as genetic and clinical information, a catalog of related genes, references to scientific articles, and links to advocacy organizations. The GARD website also includes links to additional resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and clinicaltrialsgov, where ongoing research studies and clinical trials related to Emanuel syndrome may be found.
By supporting research and providing information, GARD aims to improve the understanding of Emanuel syndrome and promote better health outcomes for individuals affected by this rare condition. Visit the GARD website to learn more about Emanuel syndrome, its genetic and clinical aspects, associated health issues, available resources, and ongoing research.
Patient Support and Advocacy Resources
Patients with Emanuel syndrome can benefit from various resources and support systems that provide information, assistance, and advocacy. Here are some valuable resources:
- Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about Emanuel syndrome, including its causes, associated genes, and inheritance patterns.
- Patient Support Groups – Patient support groups play a crucial role in connecting individuals and families affected by Emanuel syndrome. These groups provide a platform for sharing experiences, seeking advice, and offering emotional support.
- Translocation Research Studies – Ongoing research studies focused on Emanuel syndrome can provide valuable information about the condition. These studies aim to identify additional genes and investigate the clinical characteristics of the syndrome in order to develop effective treatments.
- PubMed – PubMed is a widely-used database of scientific articles, including those related to Emanuel syndrome. It can provide access to the latest research findings, which can be helpful in understanding the condition and its management.
In addition, the following resources can be beneficial:
- Genetic Research Centers – Genetic research centers specialize in studying rare genetic diseases, including Emanuel syndrome. They conduct research, provide consultation services, and offer genetic testing for families seeking more information about the condition.
- Advocacy Organizations – Advocacy organizations play a vital role in raising awareness about rare diseases and advocating for patients’ rights. They provide information, support, and resources for patients and families affected by Emanuel syndrome.
- ClinicalTrials.gov – ClinicalTrials.gov is a database that provides information on ongoing clinical trials related to Emanuel syndrome. These trials may offer opportunities for patients to participate in research studies and contribute to the advancement of medical knowledge.
By utilizing these resources, patients and their families can access valuable information, connect with others facing similar challenges, and find the support they need to navigate the journey of Emanuel syndrome.
Research Studies from ClinicalTrials.gov
ClinicalTrials.gov, a service of the National Institutes of Health, provides information about research studies on various health conditions, including rare genetic syndromes such as Emanuel syndrome. This repository of clinical trials offers valuable resources for patients, families, and healthcare professionals.
Emanuel syndrome, also known as derivative chromosome 22 syndrome, is a rare genetic condition caused by an unbalanced translocation of chromosomes. The syndrome is named after Dr. David W. Emanuel, who first described it in 1984. It is characterized by developmental delay, intellectual disability, congenital anomalies, and other health issues.
Research studies on Emanuel syndrome listed on ClinicalTrials.gov provide information about ongoing or completed studies that investigate the causes, frequency, inheritance patterns, and associated genes of this rare syndrome. These studies aim to improve our understanding of the syndrome, identify potential treatments, and offer support to affected patients and their families.
By accessing the ClinicalTrials.gov database, patients and families can learn about research studies that are actively recruiting participants or have published results. This information can help individuals and their healthcare providers make informed decisions about participating in studies or accessing the latest research findings.
In addition to ClinicalTrials.gov, other scientific resources like PubMed and OMIM (Online Mendelian Inheritance in Man) offer further references and articles on Emanuel syndrome and related genetic conditions. These resources contribute to the collective knowledge about the syndrome and support advocacy efforts for affected individuals.
Furthermore, support organizations and advocacy groups dedicated to Emanuel syndrome provide additional resources, information, and support to patients and their families. These organizations play a crucial role in raising awareness, connecting families, and funding research studies that aim to improve the lives of individuals with this rare genetic condition.
| Resources | Website |
|---|---|
| ClinicalTrials.gov | https://clinicaltrials.gov/ |
| PubMed | https://pubmed.ncbi.nlm.nih.gov/ |
| OMIM | https://www.omim.org/ |
By exploring these research studies and resources, individuals affected by Emanuel syndrome and their families can gain a better understanding of the condition, access support networks, and contribute to the scientific advancements in the field.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information about various genetic diseases and the genes associated with them. OMIM, or Online Mendelian Inheritance in Man, is a database that catalogs information about genes and genetic disorders.
OMIM provides information on the frequency, genetics, and inheritance patterns of various diseases. It includes information on the chromosomal location of genes and the specific genetic mutations that cause diseases. The database also provides references to scientific articles, research studies, and clinical trials related to each disease.
For patients and families affected by Emanuel syndrome, OMIM provides valuable resources and support. Emanuel syndrome is a rare genetic condition caused by an unbalanced translocation between chromosomes 11 and 22. The syndrome is characterized by various physical and developmental abnormalities.
OMIM provides a catalog of genes and diseases associated with Emanuel syndrome. It includes information on the symptoms, inheritance patterns, and genetic mutations involved in the condition. The database also provides additional resources, such as references to scientific articles, clinical trials, and advocacy organizations supporting individuals with Emanuel syndrome.
By accessing the OMIM catalog, individuals can learn more about the genes and genetic factors associated with Emanuel syndrome and other rare diseases. The database provides a platform for researchers to explore the genetic basis of various conditions and conduct further studies to better understand and treat these disorders.
| Feature | Description |
|---|---|
| Genetic Information | Provides information on the genetics of various diseases, including chromosomal location, inheritance patterns, and genetic mutations involved. |
| References | Includes references to scientific articles, research studies, and clinical trials related to each disease. |
| Support Organizations | Provides information on advocacy organizations and support groups for individuals and families affected by specific diseases. |
Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals seeking information about the genetic basis of diseases. It offers a comprehensive overview of genetic disorders, including information on genes, inheritance patterns, and associated health conditions.
Scientific Articles on PubMed
PubMed is a widely recognized and respected online database for accessing scientific articles in the field of medicine and genetics. It is a valuable resource for researchers, healthcare professionals, and individuals interested in learning more about various medical conditions, including rare genetic disorders like Emanuel syndrome.
Emanuel syndrome, also known as derivative chromosome 22 syndrome, is a rare genetic condition caused by an extra genetic material from chromosome 22. It is characterized by developmental delay, intellectual disability, distinctive facial features, heart defects, and other medical issues.
On PubMed, you can find numerous scientific articles that focus on Emanuel syndrome and its associated features. These articles provide valuable insights into the condition, its causes, genetic inheritance, clinical studies, and potential treatment options. Here are some key publications:
- Advocacy organizations like the Emanuel Syndrome International Advocacy Center exist to support patients and families affected by Emanuel syndrome. They provide resources, information, and support for individuals navigating the challenges associated with this rare condition.
- The ClinicalTrials.gov database includes information about ongoing clinical trials and research studies related to Emanuel syndrome. These studies aim to further understand the underlying mechanisms of the condition and explore potential therapeutic interventions.
- Studies have shown that the presence of an unbalanced translocation involving chromosome 22 is the primary cause of Emanuel syndrome. This translocation can occur in the parents or arise spontaneously in the affected individual.
- Genetic studies have focused on identifying the specific genes and chromosomal regions responsible for the characteristic features of Emanuel syndrome. These studies help elucidate the molecular mechanisms underlying the condition and may lead to targeted treatments in the future.
- Additional resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog and the National Institutes of Health (NIH) website, provide valuable information about the frequency, clinical features, and inheritance patterns of Emanuel syndrome. These resources can help healthcare professionals and families learn more about the condition and access relevant support.
- Research articles on PubMed also explore the associations between Emanuel syndrome and other medical conditions or genetic abnormalities, shedding light on potential comorbidities or overlapping features.
By accessing scientific articles on PubMed, you can stay informed about the latest research on Emanuel syndrome, its underlying causes, and potential treatment options. The wealth of information available on this platform can help healthcare professionals and families better understand this rare genetic condition and navigate their journey with enhanced knowledge and support.
References
- Zackai EH. Emanuel syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1286/
- OMIM – Online Mendelian Inheritance in Man. Emanuel Syndrome. Available from: https://omim.org/entry/609029
- Catalog of Genes and Diseases. Emanuel Syndrome. Available from: https://www.ncbi.nlm.nih.gov/CBBresearch/Lu/Demo/PubTator/#!/view/609029
- Emanuel Syndrome Advocacy and Research Center. About Emanuel Syndrome. Available from: https://emanuelsyndrome.org/about-emanuel-syndrome/
- National Institutes of Health. Emanuel syndrome. Available from: https://rarediseases.info.nih.gov/diseases/10261/emanuel-syndrome
- Genetic and Rare Diseases Information Center. Emanuel Syndrome. Available from: https://rarediseases.org/rare-diseases/emanuel-syndrome/
- ClinicalTrials.gov. Search results for Emanuel syndrome. Available from: https://www.clinicaltrials.gov/ct2/results?term=emanuel+syndrome