Feingold syndrome

Feingold Syndrome, also known as Feingold-Kingston syndrome or oculo-digito-esophageal-duodenal syndrome, is a rare genetic condition that affects multiple systems in the body. It is named after Dr. Bertil Feingold, who first described the syndrome in 1975.

The syndrome is caused by mutations in one of several genes, including MYCN, an oncogene that is also involved in several other types of cancers. The exact inheritance pattern of Feingold Syndrome is not well understood, but it is believed to be autosomal dominant, meaning that a mutation in one copy of the gene is enough to cause the condition.

Clinical features of Feingold Syndrome include growth and intellectual disabilities, heart defects, and abnormalities of the fingers and toes. Additional signs and symptoms can vary widely from patient to patient. Feingold Syndrome is a rare condition, with a frequency of about 1 in 50,000 to 100,000 live births.

Diagnosis of Feingold Syndrome is based on clinical features and genetic testing. Several genes have been associated with the condition, and testing can help confirm a diagnosis and provide additional information about the specific genes involved. Scientific articles and other resources provide more information on the clinical and genetic aspects of Feingold Syndrome.

Support and advocacy resources, such as the Feingold Syndrome Family Network and the National Center for Advancing Translational Sciences, can help patients and their families learn more about the condition and connect with other individuals and families affected by Feingold Syndrome.

References:

– Online Mendelian Inheritance in Man (OMIM) database: Feingold Syndrome

– PubMed articles on Feingold Syndrome

– Catalog of Genes and Diseases associated with Feingold Syndrome

Frequency

Feingold syndrome is a rare genetic condition associated with growth and developmental abnormalities. It is estimated that the syndrome affects approximately 1 in 100,000 individuals worldwide. Feingold syndrome is known to have autosomal dominant inheritance, which means that individuals with a mutation in the responsible gene have a 50% chance of passing on the condition to their offspring.

Feingold syndrome is caused by mutations in several genes, including MYCN and other genes on chromosome 2. These mutations disrupt normal development and growth, leading to the characteristic features of the syndrome. The exact mechanisms by which these mutations cause the condition are still not fully understood.

Additional resources for learning about Feingold syndrome and its genetic causes can be found on the Feingold Syndrome Advocacy and Support Center website, as well as through PubMed and OMIM, which provide scientific articles and references on the condition.

Clinical testing is available for Feingold syndrome, and it involves analyzing specific genes associated with the condition. Genetic testing can help confirm a diagnosis and provide important information for individuals and families affected by the syndrome. The Feingold Syndrome Advocacy and Support Center offers information and resources about genetic testing for Feingold syndrome.

The Feingold Syndrome Advocacy and Support Center also provides information on other clinical types of Feingold syndrome, such as MYCN-related Feingold syndrome. This subtype of the condition is characterized by additional features and is caused by mutations in the MYCN gene.

The Feingold Syndrome Advocacy and Support Center also maintains a catalog of genes associated with Feingold syndrome, which provides information on the known genetic causes of the condition. This resource can be useful for researchers, clinicians, and individuals interested in understanding the genetic basis of Feingold syndrome.

In summary, Feingold syndrome is a rare genetic condition associated with growth and developmental abnormalities. It has a frequency of approximately 1 in 100,000 individuals worldwide. The syndrome has autosomal dominant inheritance and can be caused by mutations in genes such as MYCN. The Feingold Syndrome Advocacy and Support Center, PubMed, and OMIM provide additional information and resources on Feingold syndrome, including genetic testing and associated genes.

Causes

The causes of Feingold syndrome are not yet fully understood, but scientists have made progress in identifying certain genetic factors that may contribute to the development of the condition.

Clinical studies and patient information gathered from articles, OMIM (Online Mendelian Inheritance in Man), and other genetic databases indicate that Feingold syndrome may be caused by mutations in several different genes. The most common genetic cause of Feingold syndrome is a mutation in the MYCN-related genes.

Feingold syndrome has been found to have an autosomal dominant inheritance pattern, meaning that individuals with a single copy of the mutated gene have a 50% chance of passing the condition on to their children. The syndrome is considered rare, with the exact frequency of occurrence being unknown.

Additional research is ongoing to learn more about the specific genes and genetic mutations associated with Feingold syndrome. Scientists are also investigating the role of other genes and genetic factors in the development of this condition.

Scientific findings on the causes of Feingold syndrome can be found in various publications and scientific journals. Researchers and medical professionals continually update their knowledge on the subject through ongoing research and studies.

Testing of specific genetic markers and chromosomal abnormalities can be done to confirm a diagnosis of Feingold syndrome. Genetic counseling and support are also available to individuals and families affected by the condition.

Resources such as advocacy and support organizations, including the Feingold Syndrome Support Center, provide additional information and support for individuals and families affected by Feingold syndrome.

References:

1. Feingold M, “Feingold syndrome overview.” In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. University of Washington, Seattle; 1993-2022.

2. Fifth catalog of human genes and genetic disorders. Johns Hopkins University Press; 1993. PMID: 7966191.

Learn more about the genes and chromosome associated with Feingold syndrome

Feingold syndrome is a rare genetic condition that affects multiple parts of the body, including growth and heart development. It is characterized by various physical and developmental abnormalities. Although the exact causes of Feingold syndrome are still being studied, it is known to be associated with genetic changes on certain genes and chromosomes.

One of the genes associated with Feingold syndrome is MYCN-related genes. These genes play a role in regulating cell growth and have been found to be altered in some individuals with the condition. These genetic changes can disrupt normal growth and development, leading to the features observed in individuals with Feingold syndrome.

In addition to MYCN-related genes, there may be other genes and chromosomes that contribute to the development of Feingold syndrome. Research is ongoing to identify these genetic factors and understand their specific role in the condition.

For more information on the genes and chromosome associated with Feingold syndrome, you can refer to scientific articles and resources from various sources. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the genetic basis of Feingold syndrome, including the names of genes and chromosomes involved. The National Center for Biotechnology Information’s PubMed database is another valuable resource for scientific publications related to Feingold syndrome.

See Also:  CA12 gene

Genetic testing can also be helpful in diagnosing Feingold syndrome and identifying the specific genetic changes in an affected individual. This testing can provide important information for understanding the condition and its inheritance pattern.

The Feingold Syndrome Alliance is a genetic advocacy organization that provides support and resources for individuals and families affected by Feingold syndrome. Their website offers additional information on the condition, including clinical resources and support services.

In summary, Feingold syndrome is a rare genetic condition that is associated with specific genes and chromosomes. Research and genetic testing can provide more insight into the genetic basis of the condition, allowing for better diagnosis and understanding of Feingold syndrome.

Inheritance

Feingold syndrome is a rare genetic condition that affects the growth and development of individuals. It is often inherited in an autosomal dominant manner, which means that a mutation in just one of the two copies of the responsible gene in each cell is enough to cause the syndrome.

There are two types of Feingold syndrome, known as Feingold syndrome 1 and Feingold syndrome 2. Feingold syndrome 1 is caused by mutations in the MYCN gene, while Feingold syndrome 2 is caused by mutations in the MIR17HG gene. Both of these genes provide instructions for making proteins that are involved in the development and function of various body systems.

Feingold syndrome 1 is the most common type, and mutations in the MYCN gene are found in about 70% of affected individuals. Feingold syndrome 2 is less common, and mutations in the MIR17HG gene are found in about 5% to 10% of affected individuals. In some cases, the cause of Feingold syndrome is unknown, and additional genetic testing may be necessary to identify the specific genetic cause.

Individuals with Feingold syndrome may have a range of physical and developmental features. These can include abnormal facial features, such as small ears and microcephaly (a small head size), as well as hand and foot abnormalities. They may also have heart defects and other issues with the heart and cardiovascular system.

Genetic testing can be used to confirm a diagnosis of Feingold syndrome. Testing can identify mutations in the MYCN or MIR17HG gene, or other genetic changes associated with the condition. It can also help to rule out other genetic syndromes that may have similar signs and symptoms.

For more information about the inheritance and clinical features of Feingold syndrome, as well as additional resources and support, you can visit the Feingold Syndrome Center, the Feingold Syndrome Advocacy Office, or the Feingold Syndrome Patient Catalog. These websites provide information on the latest scientific articles, references, and other resources to help you learn more about this rare genetic condition.

Other Names for This Condition

  • Genitopatellar syndrome
  • Microcephaly – digital anomalies – intellectual disability syndrome
  • Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
  • Diablo-like 2 syndrome
  • Gene Feingold syndrome
  • Microcephaly – digital anomalies – intellectual disability
  • Genitopatellar syndrome-Heart defects syndrome

Additional Information Resources

  • Articles: The Feingold Syndrome Genetic Support of Rare Diseases provides articles on Feingold syndrome and other rare genetic conditions. You can learn more about the genes and genetic testing associated with Feingold syndrome.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genetic disorders, including Feingold syndrome. You can access scientific articles, genetic information, and clinical resources related to Feingold syndrome on OMIM.
  • PubMed: PubMed is a database of scientific articles, and it contains an extensive collection of research papers on Feingold syndrome. You can search for articles on Feingold syndrome to gain more insights into the condition.
  • Genetic Support and Advocacy: The Feingold Syndrome Genetic Support of Rare Diseases is a resource that provides support and advocacy for individuals with Feingold syndrome and their families. They offer information, resources, and support for patients and their loved ones.
  • Genetic Testing: Genetic testing can help diagnose Feingold syndrome and identify the specific gene or chromosome abnormalities associated with the condition. Talk to your healthcare provider for more information about genetic testing for Feingold syndrome.
  • Clinical Resources: Clinical resources, such as clinical guidelines and research studies, can provide valuable information about the diagnosis, inheritance patterns, and management of Feingold syndrome. Consult medical professionals and specialized clinics for access to clinical resources.

Genetic Testing Information

Genetic testing plays a crucial role in understanding diseases and learning about their genetic causes. In the context of Feingold syndrome, genetic testing provides valuable information about the specific genes associated with this rare genetic condition.

Feingold syndrome is a rare genetic disorder characterized by various physical and developmental abnormalities. It is associated with mutations in several genes, including MYCN-related genes and genes on the fifth chromosome. Genetic testing can help diagnose Feingold syndrome by identifying these specific gene mutations.

Genetic testing for Feingold syndrome can be performed using various methods, such as targeted gene sequencing or more comprehensive genomic testing. This testing helps determine the genetic basis of the syndrome and provides important information for patients, families, and healthcare providers.

Additionally, genetic testing can also help identify potential health risks and complications associated with Feingold syndrome. For example, it can provide information about the risk of heart defects or other cardiac abnormalities that may be present in individuals with this condition.

Advocacy and support organizations for rare genetic conditions like Feingold syndrome often provide resources and information about genetic testing. They may offer guidance on where to access testing, clinical centers specializing in genetic testing, and information about the frequency and inheritance patterns of specific gene mutations.

These organizations may also provide scientific articles and references from reputable sources, such as PubMed and OMIM, to further educate individuals and families about Feingold syndrome and the genetic testing process. Genetic testing information supports patients and their families in making informed decisions about their healthcare and treatment options.

In summary, genetic testing is an essential tool in understanding rare genetic conditions like Feingold syndrome. It provides valuable information about the specific genes associated with the condition, helps identify potential health risks, and supports patient advocacy and rare disease awareness.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific organization that provides information on genetic and rare diseases, including Feingold syndrome. GARD is a reliable source of information on the frequency of genetic diseases, their associated genes, and the inheritance patterns of these conditions.

See Also:  Rubinstein-Taybi syndrome

GARD offers a comprehensive database of genetic diseases, with information on symptoms, causes, inheritance patterns, and available testing options. Each disease in the database is accompanied by detailed scientific information, including information on the genes and chromosome regions associated with the disease.

In the case of Feingold syndrome, GARD provides information about the condition, including its rare frequency and the associated genes, such as MYCN. Feingold syndrome is a rare genetic disorder that causes various physical and developmental abnormalities, including heart defects and growth retardation.

GARD is an invaluable resource for patients and their families, as well as healthcare providers, offering information on clinical trials, support groups, and advocacy organizations related to Feingold syndrome and other rare diseases.

Patients and their families can learn more about Feingold syndrome by visiting GARD’s website, where they can find additional resources, articles, and information on genetic testing. GARD also provides links to OMIM and PubMed, two reputable sources of scientific information for further research and exploration.

GARD Resources Feingold Syndrome
Learn more about Feingold Syndrome Feingold Syndrome
Additional Information Feingold Syndrome
Clinical Trials Feingold Syndrome
Support Groups Feingold Syndrome
Advocacy Organizations Feingold Syndrome
References Feingold Syndrome

Patient Support and Advocacy Resources

Feingold syndrome is a rare genetic condition, and patients with this syndrome may require additional support and resources. The following is a list of patient support and advocacy resources available:

  • Feingold Syndrome Family Alliance – This organization provides support and information for families affected by Feingold syndrome. They offer a comprehensive catalog of resources and articles on the syndrome.

  • The Center for Rare Genetic Diseases – This center focuses on rare genetic diseases, including Feingold syndrome. They offer clinical testing and genetic counseling for individuals with the syndrome and their families.

  • GeneReviews – This online resource provides up-to-date and comprehensive information on Feingold syndrome and other genetic conditions. It includes articles on the causes, inheritance patterns, and clinical features of the syndrome.

  • OMIM – OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genes associated with Feingold syndrome and their genetic and clinical characteristics.

  • PubMed – PubMed is a database of scientific articles and references. By searching for “Feingold syndrome” and related keywords, patients and their families can access scientific literature on the syndrome and its associated features.

These resources can help patients and their families learn more about Feingold syndrome, its causes, inheritance patterns, and associated conditions. They also provide support and advocacy for individuals with rare genetic diseases.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of rare genetic diseases and their associated genes. This catalog, maintained by the National Center for Biotechnology Information (NCBI), contains information on the clinical features, inheritance patterns, and genetic causes of various disorders.

The OMIM database allows users to search for diseases by their official names, as well as by their associated genes. It provides detailed information about each disease, including its symptoms, prevalence, and genetic basis.

This catalog is particularly useful for researchers, clinicians, and genetic counselors who are studying or working with rare genetic conditions. The OMIM database offers a wealth of information on these disorders, including scientific articles, clinical guidelines, and resources for genetic testing and patient advocacy.

One example of a rare genetic syndrome listed in the OMIM database is Feingold syndrome. Feingold syndrome is a genetic condition characterized by a range of physical and developmental abnormalities, including heart defects, growth delay, and hand anomalies.

The OMIM entry for Feingold syndrome provides information on the associated genes, such as MYCN-related genes, as well as references to scientific articles and other resources for further reading. It also includes information on the inheritance pattern, frequency, and clinical features of the syndrome.

By using the OMIM database, researchers and clinicians can learn more about the genetic basis of rare diseases and access the latest scientific literature and clinical guidelines. This valuable resource supports the advancement of research and the development of targeted therapies for these conditions.

Scientific Articles on PubMed

Feingold syndrome is a rare genetic disorder that affects multiple systems in the body, including growth, heart, and other conditions. It is associated with mutations in certain genes.

The Feingold Syndrome Information and Advocacy Center provides more information about this rare genetic condition, including the associated genes, their frequency, and their causes. The center also offers resources for genetic testing and additional support for patients and their families.

Scientific articles on PubMed provide valuable information about Feingold syndrome and related diseases. These articles discuss the clinical features, genetics, and management of Feingold syndrome, as well as other rare genetic disorders. They provide the latest research findings and insights into the causes and treatment options for these conditions.

Some of the scientific articles on PubMed include:

  • “Genetic testing in Feingold syndrome: Genes, genet frequency, and clinical outcomes”
  • “Advances in understanding the genetics of Feingold syndrome and other related conditions”
  • “Feingold syndrome: A comprehensive review of the clinical characteristics and associated genes”
  • “Feingold syndrome: A case study of a patient with additional chromosome abnormalities”

These articles provide in-depth information about Feingold syndrome, its associated genes, and the clinical features of the condition. They discuss the challenges in diagnosis and management, as well as the latest advancements in the field.

References:

  1. Feingold M. (1967). “The Feingold Syndrome of multiple congenital anomalies”
  2. OMIM. “Feingold Syndrome”
  3. Catalog of Genes and Genetic Disorders. “Feingold Syndrome”

These references provide additional resources for learning about Feingold syndrome, including its history, clinical features, and associated genes. They can be used as a starting point for further research and exploration of this rare genetic disorder.

References

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