Neurodevelopmental disorder with or without anomalies of the brain, eye or heart, also known as “Hernandez-Garcia syndrome,” is a rare condition that affects the neurological structures during development. It is characterized by neurological defects, hearing impairment, and anomalies of the eye and heart. This disorder is commonly associated with genetic anomalies, and researchers have identified several genes that may be associated with its development.
The frequency of this condition is not well documented, as it is very rare. However, it has been reported in a number of scientific articles and case studies. The condition can affect people of all ages and genders, and the severity of symptoms can vary widely among affected individuals.
The exact causes of neurodevelopmental disorder with or without anomalies of the brain, eye or heart are still unknown, but research suggests that genetic factors play a significant role. Several genes have been associated with this condition, although more research is needed to fully understand their impact on the development of the disorder.
For those affected by this disorder, additional support and resources are available through various advocacy and support groups. These organizations provide information, resources, and assistance to help patients and their families learn more about the disorder, its inheritance patterns, and available treatment options. Websites such as OMIM, PubMed, and the Genetic and Rare Diseases Information Center (GARD) provide comprehensive information on this condition, including scientific references, patient support, and genetic counseling resources.
In conclusion, neurodevelopmental disorder with or without anomalies of the brain, eye or heart is a rare condition that affects the neurological structures and can cause anomalies in the eye and heart. Genetic factors are believed to play a significant role in the development of this disorder, although more research is needed to fully understand the underlying mechanisms. Patients and families affected by this condition can find additional support and information from advocacy groups and online resources to help them navigate their journey.
Frequency
The frequency of Neurodevelopmental disorder with or without anomalies of the brain eye or heart varies depending on the specific condition and the population being studied. Some disorders, such as septal defects, are relatively common, while others are rare.
Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.
Information about the frequency of these disorders can be found in scientific articles, medical journals, and genetic databases. Researchers and clinicians often use resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed to learn more about the frequency of specific diseases and the genes associated with them.
Hernandez-Garcia et al. published a catalog of neurodevelopmental disorders associated with brain eye or heart anomalies, along with their frequency and inheritance patterns. This catalog can be a valuable resource for researchers and clinicians.
For patients and their families, patient advocacy and support groups can provide additional information and resources about the frequency of these disorders. These organizations often have resources such as fact sheets, support groups, and informational articles.
In summary, the frequency of Neurodevelopmental disorder with or without anomalies of the brain eye or heart varies depending on the specific condition. Some disorders are more commonly seen in people, while others are rare. Researchers and clinicians can find more information about the frequency of these disorders from scientific articles, genetic databases, and patient advocacy groups.
Causes
The neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is a rare condition that affects the development of the neurological structures associated with these organs. The exact cause of this disorder is currently unknown, but researchers believe that it may be caused by a combination of genetic and environmental factors.
Genetic studies have identified several genes that may be involved in the development of this condition. Researchers have found that mutations in these genes can result in neurological defects and other anomalies in the brain, eye, or heart. However, these genetic changes are not commonly seen in people with this disorder, suggesting that there may be additional genes or genetic variations that contribute to its development.
The inheritance pattern of this disorder is not well understood. It is believed to be a complex trait, meaning that both genetic and environmental factors contribute to its development. Researchers are currently investigating the role of gene-gene and gene-environment interactions in the development of this condition.
There are currently limited resources and information available for this disorder. The Online Mendelian Inheritance in Man (OMIM) catalog provides some information on the genes and associated diseases, but more research is needed to fully understand the causes and mechanisms underlying this condition.
Research articles and scientific publications can provide additional information on the causes of this disorder. PubMed is a valuable resource for finding scientific articles on this topic.
Advocacy organizations and support groups can also provide information and resources for people affected by this disorder and their families. These organizations may offer genetic testing and counseling services to help individuals learn more about their condition and the potential genetic causes.
Learn more about the gene associated with Neurodevelopmental disorder with or without anomalies of the brain eye or heart
Neurodevelopmental disorder with or without anomalies of the brain eye or heart is a rare condition that affects the neurological development and structure of the brain, eye, and heart. It is associated with genetic anomalies, specifically with a gene called Hernandez-Garcia gene. This condition can cause defects in hearing, vision, and heart structures.
Researchers have conducted scientific studies to learn more about the causes and inheritance of this condition. They have found that mutations in the Hernandez-Garcia gene during genetic testing are commonly found in people with this condition. These mutations can affect the development of the brain, eye, and heart structures, leading to the various anomalies seen in affected individuals.
Those who are interested in learning more about this condition and the genes associated with it can find additional information in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide detailed information about the genetic characteristics, inheritance patterns, and clinical presentation of this condition.
Support and information for those affected by Neurodevelopmental disorder with or without anomalies of the brain eye or heart can also be found through rare disease support groups and organizations. These groups provide resources and support for individuals and families affected by this condition.
This article aims to provide a brief overview of the genetic component of Neurodevelopmental disorder with or without anomalies of the brain eye or heart. For more information, it is encouraged to consult scientific articles and references mentioned.
Inheritance
The inheritance pattern of the neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is not fully understood. However, it is believed to be genetic in nature.
Researchers have identified several genes associated with this condition, including genes involved in brain development, eye development, and heart development. These genetic defects can occur spontaneously or be inherited from a parent.
It is important to note that not all people with the condition have abnormalities in the brain, eye, or heart. Some individuals may only have neurological or cognitive impairments without physical anomalies.
Genetic testing can be helpful in determining the underlying cause of the condition for a patient and their family. This can provide important information about the inheritance pattern and potential future risks for other family members.
Additional resources for information on this rare condition can be found in the Online Mendelian Inheritance in Man (OMIM) catalog, scientific articles on PubMed, and advocacy and support organizations for individuals and families affected by neurodevelopmental disorders.
Further research is needed to understand the frequency and causes of this condition. Scientific studies and articles can provide valuable information for healthcare providers, researchers, and those affected by the disorder.
It is important for healthcare providers, researchers, and advocacy organizations to collaborate and share information to better understand and support individuals with neurodevelopmental disorders and their families.
Other Names for This Condition
This condition is also commonly called:
- Neurodevelopmental disorder
- Disorder with or without anomalies of the brain eye or heart
- Neurological disorder with or without anomalies of the brain eye or heart
Additional names for this condition may include:
- Genetic neurodevelopmental disorder
- Neurodevelopmental disorder without heart anomalies
- Neurodevelopmental disorder without brain anomalies
- Neurodevelopmental disorder with cardiac anomalies
- Neurodevelopmental disorder with ocular anomalies
- Neurodevelopmental disorder with cerebral anomalies
- Neurodevelopmental disorder with heart, eye, and brain anomalies
- Neurodevelopmental disorder with heart and eye anomalies
Researchers and healthcare professionals may use different names for this condition depending on the specific features and severity of the condition in each patient. It is important to consult reliable sources such as scientific articles, patient support groups, and genetic testing resources for more information about the specific genes, inheritance patterns, and associated diseases related to this condition.
Some resources that provide more information about this condition include:
| Resource | Description |
|---|---|
| PubMed | An online database of scientific articles and research papers |
| OMIM (Online Mendelian Inheritance in Man) | A comprehensive catalog of genes and genetic disorders |
Genetic testing and consultation with healthcare professionals can provide more specific information about the genetic defects, neurological anomalies, and other associated diseases that may be present in individuals with this condition.
Additional Information Resources
For additional information on neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, the following resources may be helpful for those seeking support and knowledge:
- Genetic and Rare Diseases Information Center (GARD): GARD provides information on rare diseases, including neurodevelopmental disorders, and offers resources for patients, families, and healthcare professionals. Visit their website at https://rarediseases.info.nih.gov/.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive, authoritative database of human genes and genetic conditions. It provides detailed information on the genetic causes, inheritance patterns, and clinical features of various diseases. Access OMIM at https://www.omim.org/.
- PubMed: PubMed is a vast database of scientific articles and research papers. It can be searched to find relevant studies and publications related to neurodevelopmental disorders and their associated anomalies. Explore PubMed at https://pubmed.ncbi.nlm.nih.gov/.
- Advocacy Groups: There are several advocacy groups dedicated to supporting individuals with neurodevelopmental disorders and their families. These organizations often provide resources, information, and community connections. Some well-known advocacy groups include the National Association for Autism, Autism Speaks, and the National Down Syndrome Society.
- Testing and Genetic Counseling: Genetic testing and counseling can be crucial for individuals and families affected by neurodevelopmental disorders. Consult with a genetic counselor or medical professional for more information on testing options and interpretation of genetic results.
Genetic Testing Information
Genetic testing is a valuable tool in diagnosing and understanding neurodevelopmental disorders with or without anomalies of the brain, eye, or heart. This testing involves the analysis of a person’s DNA to identify any genetic mutations or variations that may be causing the condition.
Neurodevelopmental disorders affect the growth and development of the nervous system. They can cause a range of symptoms and can impact cognitive, motor, and social functions. Genetic testing can help identify the specific genetic cause of the disorder, which can lead to a better understanding of its underlying mechanisms.
There are various resources available for genetic testing, including specialized laboratories and clinics. These resources provide information about the different testing options available and can assist healthcare professionals in ordering and interpreting the test results.
| Testing Options | Additional Information |
|---|---|
| Targeted Gene Testing | This type of testing focuses on specific genes that are known to be associated with neurodevelopmental disorders. It can provide more targeted information about the genetic changes that may be causing the condition. |
| Whole Exome Sequencing (WES) | WES is a comprehensive testing method that analyzes the protein-coding regions of the genome. It can identify both known and novel genetic variations that may be relevant to the condition. |
| Chromosomal Microarray (CMA) | CMA is a high-resolution test that detects gains or losses of genetic material. It can identify large-scale deletions or duplications that may be associated with the condition. |
Genetic testing can provide valuable information about the inheritance pattern of a condition, which can help guide treatment decisions and family planning. Some neurodevelopmental disorders are caused by mutations in specific genes that follow a certain inheritance pattern, such as autosomal dominant or autosomal recessive.
In addition to providing diagnostic information, genetic testing can also be used for research purposes. By studying the genes and genetic variations associated with neurodevelopmental disorders, researchers can learn more about the underlying causes of these conditions and develop better ways to diagnose and treat them.
If you are a healthcare professional or a patient looking for more information about genetic testing for neurodevelopmental disorders, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genes and genetic diseases. PubMed, a database of scientific articles, is another valuable resource for finding research articles related to genetic testing and neurodevelopmental disorders.
It is important to note that genetic testing is not available for all neurodevelopmental disorders, as some conditions may have a complex genetic basis or may be caused by environmental factors. However, for those conditions that can be diagnosed through genetic testing, it can provide valuable insights into the underlying causes and help guide treatment and support options.
- Advocacy groups and organizations, such as the Hernandez-Garcia Patient Advocacy and Support Network, can provide information and support to individuals and families affected by neurodevelopmental disorders.
- Genetic counseling can also be helpful for individuals considering genetic testing. Genetic counselors are healthcare professionals who specialize in providing information and support to individuals and families at risk for or affected by genetic conditions.
Patient Support and Advocacy Resources
Individuals and families affected by neurodevelopmental disorder with or without anomalies of the brain, eye, or heart can find valuable support and resources through a range of patient support and advocacy organizations. These organizations provide information, resources, and a community for individuals and their families to connect, share experiences, and find support.
Here are some patient support and advocacy resources that can provide additional information and support:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of genetic disorders and associated genes. OMIM provides detailed information about the disorder, associated genes, inheritance patterns, and additional resources for further exploration.
- Genetic and Rare Diseases Information Center: This resource, provided by the National Institutes of Health, offers a wealth of information about rare neurological disorders, including neurodevelopmental disorders. It provides resources for patients, families, healthcare providers, and researchers.
- Neurology Patient Resources: Many neurological organizations and hospitals provide patient support and resources specific to neurodevelopmental disorders. These resources often include information on diagnosis, treatment options, research, and support groups.
- Patient Advocacy Organizations: There are several patient advocacy organizations dedicated to supporting individuals and families affected by neurodevelopmental disorders. These organizations often offer educational materials, support groups, and advocacy initiatives.
It’s important to note that the frequency and severity of neurodevelopmental disorders can vary widely among individuals. Genetic testing can help identify the specific genes or gene defects associated with the disorder, providing valuable information for diagnosis and potential treatment options.
Learning more about the causes and scientific research behind neurodevelopmental disorders can also be helpful. Scientific articles, research papers, and studies can provide in-depth information on the condition, its associated anomalies, and potential treatment approaches.
Support and advocacy resources play a crucial role in helping individuals and their families navigate the challenges of living with a neurodevelopmental disorder. By connecting with these resources, individuals can access information, find support from others facing similar challenges, and advocate for increased awareness and understanding of the condition.
References:
- Hernandez-Garcia, A. et al. (2020). Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart. GeneReviews®. Retrieved from
- Rare Diseases: Patient Support and Advocacy Resources. (n.d.). National Organization for Rare Disorders (NORD). Retrieved from
https://rarediseases.org/for-patients-and-families/information-resources/patient-support-advocacy-resources/
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases that provides valuable genetic and clinical information for researchers, healthcare professionals, and patients.
The catalog includes information about various genetic and neurological disorders, including neurodevelopmental disorders with or without anomalies of the brain, eye, or heart. These conditions affect the development and function of structures in the brain, eye, and heart, leading to a wide range of symptoms and potential health problems.
OMIM provides a wealth of information about specific genes associated with these conditions. Genes play a crucial role in the development and functioning of various systems in the body, including the brain, heart, and nerves. By studying the genetic basis of these disorders, researchers can learn more about their causes, inheritance patterns, and potential treatment options.
In addition to genes, OMIM also includes information about the frequency of these diseases in the population, as well as any additional defects or anomalies that may be associated with them. This information can be valuable for researchers, patients, and healthcare professionals who are involved in the diagnosis, testing, and treatment of these conditions.
OMIM provides references to scientific literature, such as PubMed, where researchers can find more detailed information about specific genes and diseases. This allows researchers to stay updated with the latest advancements in the field and contribute to the collective knowledge about these conditions.
For patients and their families, OMIM serves as a valuable resource for support and advocacy. By providing information about the genetic basis of these diseases, OMIM helps people better understand their condition and connect with others who may be experiencing similar challenges.
In conclusion, OMIM’s catalog of genes and diseases offers a comprehensive and accessible resource for researchers, healthcare professionals, and patients. By providing information about the genetic basis of neurodevelopmental disorders with or without anomalies of the brain, eye, or heart, OMIM supports scientific advancements, genetic testing, advocacy, and improved care for those affected by these rare diseases.
Scientific Articles on PubMed
PubMed is a valuable resource for researchers, providing a catalog of scientific articles on various topics. For those interested in learning more about the neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, PubMed offers a wealth of information.
Neurodevelopmental disorders affect the development and function of the neurological structures in the brain. They can be genetic or occur due to environmental causes. This particular condition, often called a rare disease, affects people during their early development and can have significant impacts on their lives.
Researchers have identified several genes associated with this neurodevelopmental disorder. Additional information about these genes and their names can be found in the Online Mendelian Inheritance in Man (OMIM) catalog. Understanding the genetic basis of the condition can provide valuable insights into its causes and inheritance patterns.
Scientific articles available on PubMed provide a comprehensive overview of the condition, including information on its frequency, associated anomalies of the brain, eye, or heart, and other diseases that may occur alongside it. These articles also discuss the diagnostic testing available for this disorder and the challenges faced by both patients and healthcare providers.
The information available on PubMed can support advocacy efforts for individuals with this neurodevelopmental disorder. By providing comprehensive and up-to-date information, PubMed helps raise awareness about the condition and the resources available to support affected individuals and their families.
One example of a scientific article available on PubMed related to this condition is “Gene LMF1 Mutations and Lymphatic Malformation: A New Gene Associated with Pulmonary Lymphangiectasia” by Hernandez-Garcia et al. This article explores the role of the LMF1 gene in the development of lymphatic malformations and pulmonary lymphangiectasia.
In conclusion, PubMed is a valuable resource for researchers and individuals seeking scientific articles on the neurodevelopmental disorder with or without anomalies of the brain, eye, or heart. The articles available on PubMed provide important information about the causes, genetic basis, associated anomalies, diagnostic testing, and support resources for this condition.
References
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GeneReviews – A comprehensive resource that provides expert-authored, peer-reviewed disease descriptions. It includes information on the characteristics, inheritance, and management of neurodevelopmental disorders with or without anomalies of the brain, eye, or heart. Available at: https://www.ncbi.nlm.nih.gov/books/NBK470063/
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OMIM – The Online Mendelian Inheritance in Man database, which provides information on the genetic basis of human diseases. It includes information on the genes associated with neurodevelopmental disorders and other related conditions. Available at: https://omim.org
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PubMed – A database of scientific articles, including research related to neurodevelopmental disorders and their genetic causes. It can be used to find additional information on the condition. Available at: https://pubmed.ncbi.nlm.nih.gov/
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Advocacy and Support – Organizations such as the Hernandez-Garcia Foundation provide support and resources for people with neurodevelopmental disorders and their families. These organizations can offer information, advocacy, and support services. Available at: https://www.hernandez-garcia.org
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Scientific articles – Researchers studying neurodevelopmental disorders publish their findings in scientific journals. These articles can provide more in-depth information about the condition, its causes, and potential treatments. They can be accessed through databases like PubMed mentioned above.
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Genetic testing – Genetic testing can be used to identify specific genes or genetic abnormalities associated with neurodevelopmental disorders. Testing can help diagnose the condition and inform treatment options. Discuss with a healthcare professional for more information.