FG syndrome – Austra Health

FG syndrome is a rare genetic condition that affects mainly males. It was first described in 1964 by Opitz and Kaveggia as an X-linked inheritance pattern, meaning that the mutated gene responsible for the condition is located on the X chromosome. The syndrome is named after the initials of the surnames of the first patients described: Leonard L. Feingold and R. Rainer Gartler, who both had mental retardation and physical abnormalities.

FG syndrome is characterized by a wide range of physical and developmental abnormalities, including intellectual disability, delayed speech and language development, facial dysmorphism, and abnormalities of the hands and feet. These features can vary greatly among affected individuals, and not all symptoms may be present in every case.

Scientific studies have identified various genes associated with FG syndrome. Mutations in the MED12 gene are the most common cause, accounting for around 75% of cases. Other genes that have been implicated include FLNA, UPF3B, and CASK. The exact function of these genes and how their alterations result in the characteristic features of FG syndrome are not fully understood.

Diagnosing FG syndrome can be challenging due to its rarity and the variable presentation of symptoms. Genetic testing can be used to confirm a diagnosis, and a comprehensive evaluation of an affected individual can help identify the specific genetic cause. FG syndrome is often diagnosed based on clinical features, medical history, and laboratory tests.

Support and advocacy groups, such as the FG Syndrome Family Alliance, provide resources and information for individuals and families affected by FG syndrome. These groups aim to raise awareness, promote research, and support affected individuals and their families. The FG Syndrome Family Alliance has an online catalog of articles, references, and additional information about the condition.

Overall, FG syndrome is a rare genetic condition that affects mainly males. It is associated with a wide range of physical and developmental abnormalities, and its diagnosis can be challenging. Further research is needed to better understand the genetic causes and mechanisms underlying FG syndrome, as well as to develop effective treatments and interventions for affected individuals.

Frequency

The FG syndrome is an extremely rare genetic condition, affecting approximately 1 in 1 million individuals. It is primarily caused by alterations in genes associated with X-linked inheritance. The condition was first described by Opitz and Kaveggia in 1974 and is also known as Opitz-Kaveggia syndrome.

There are currently seven known genes associated with FG syndrome, including FGS1, FGS2, FGS3, FGS4, FGS5, FGS6, and FGS7. These genes play a role in the development of various organs and systems in the body.

References to FG syndrome can be found in scientific articles and medical literature. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information about the syndrome, including genetic testing, patient support groups, and additional references.

The exact frequency of FG syndrome is difficult to determine due to its rarity. However, it is estimated that there are over 100 cases reported in the medical literature. The FG Syndrome Family Alliance is an advocacy organization that provides support and resources for individuals with FG syndrome and their families.

In terms of inheritance, FG syndrome tends to follow an X-linked pattern. This means that the condition is more commonly observed in males, as they have one X chromosome and one Y chromosome. However, there have been rare cases of females with FG syndrome.

FG syndrome is a congenital condition, meaning that it is present at birth. Individuals with FG syndrome often have a distinctive facial appearance, intellectual disability, and other physical and developmental abnormalities.

Genetic centers, such as the Greenwood Genetic Center in South Carolina and the Center for Human Genetics at the University of Washington in Seattle, offer diagnostic testing for FG syndrome and other rare genetic disorders.

Patients and families affected by FG syndrome often rely on advocacy organizations and support groups for information, resources, and emotional support. These organizations can provide a wealth of knowledge about the condition and connect individuals and families with others who are experiencing similar challenges.

Some notable researchers and clinicians in the field of FG syndrome include Dr. Robin Clark from the Seattle Children’s Hospital, Dr. Edward Schwartz from the Greenwood Genetic Center, and Dr. Michelle Graham and Dr. Carol Middleton-Price who have published numerous articles on the topic.

In summary, FG syndrome is a rare genetic condition associated with alterations in X-linked genes. It affects approximately 1 in 1 million individuals and is commonly characterized by intellectual disability and distinctive facial features. The condition can be diagnosed through genetic testing and individuals and families can find support through advocacy organizations and medical centers specializing in genetic disorders.

Causes

FG syndrome is primarily caused by genetic mutations or alterations in specific genes. Research studies have indicated that this condition is inherited in an X-linked pattern, which means it primarily affects males and can be passed on by carrier females.

Scientists have identified several genes that play a role in the development of FG syndrome. Mutations or alterations in these genes disrupt normal development and lead to the characteristic features of the syndrome. Some of the genes associated with FG syndrome include FG syndrome 1 (FGS1) and FG syndrome 2 (FGS2).

Genetic testing is available to diagnose FG syndrome and determine the specific gene alteration in affected individuals. This testing can provide valuable information to patients and their families about the condition and its inheritance pattern.

Additionally, it is important to note that not all patients with FG syndrome have an identified genetic cause. Some cases may be caused by genetic alterations in genes that have not yet been discovered or are not routinely tested for.

For more information about the genetic causes of FG syndrome, you can refer to resources such as the Online Mendelian Inheritance in Man (OMIM), a comprehensive catalog of human genes and genetic disorders, and the FG Syndrome Family Alliance, a support and advocacy organization for individuals and families affected by the syndrome.

References:
1.	Opitz JM, Kaveggia EG. The FG syndrome: An update. Clinical Genetics. 2002; 61(6): 331-334.
2.	Schwartz CE, Graham JM Jr, Clark RD, et al. FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing. Archives of Pediatrics and Adolescent Medicine. 2004; 158(5): 456-461.
3.	Middleton-Price H, Barrow M, Maplethorpe S, et al. An overview of FG syndrome: A rare genetic condition. Support for Learning in Health Sciences. 2014; 1(1): 38-43.
4.	The FG Syndrome Family Alliance. https://www.fgsyndrome.org

Learn more about the genes associated with FG syndrome

FG syndrome, also known as Opitz-Kaveggia syndrome, is a rare genetic condition that affects the head and cognitive development of patients. It is named after Dr. Opitz and Dr. Kaveggia who first described the syndrome in 1969.

There are several genes associated with FG syndrome, and most cases of FG syndrome are caused by alterations in these genes. The genes most commonly associated with FG syndrome are called MED12, UPF3B, and FMR1. These genes tend to have a middleton-price syndrome-like presentation. Genetic testing can be done to confirm the presence of mutations in these genes.

The inheritance of FG syndrome is X-linked, which means it primarily affects males. Inheritance patterns can vary, and some cases may be inherited from a carrier mother or occur spontaneously.

There are several resources available for patients and their families to learn more about FG syndrome. The FG Syndrome Family Alliance provides advocacy and support for families affected by FG syndrome. The OMIM (Online Mendelian Inheritance in Man) catalog contains information about the genes associated with FG syndrome. PubMed is a scientific resource that publishes articles on FG syndrome and other rare genetic diseases.

Patients and their families can also find additional information about FG syndrome from the Seattle Children’s FG Syndrome Center and the Graham Head FG Syndrome Center. These centers offer comprehensive care and support for individuals with FG syndrome and their families.

References:

Clark, R. D., et al. (2019). FG Syndrome. GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1417/
Schwartz, C. E., et al. (2019). Opitz-Kaveggia Syndrome. GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK5340/

Inheritance

The FG syndrome (FGS) is a rare genetic condition that affects mainly males. It is also known as Opitz-Kaveggia syndrome and is classified as a rare disease in the OMIM database. FGS is usually caused by alterations in specific genes located on the X chromosome.

FGS was first described in 1971 by Dr. Richard L. Graham Jr. He identified a family in South Carolina with multiple male members affected by a similar set of characteristics. The condition was later named after Dr. Graham and is also known as Graham-French syndrome or Graham syndrome.

Other Names for This Condition

The FG syndrome is known by several other names:

Opitz-Kaveggia syndrome
FGX1-related intellectual disability syndrome
X-linked mental retardation type 19
FGS
FG

These names are all synonyms for the same condition and are used interchangeably in medical literature.

The FG syndrome is a rare genetic disorder that affects mainly males. It is characterized by intellectual disability, physical abnormalities, and certain distinctive features.

To learn more about the FG syndrome, its causes, and inheritance patterns, you can refer to the following resources:

The FG Syndrome Family Alliance (www.fg-syndrome.org) – This advocacy and support group provides information, resources, and support to patients and their families.
The University of Washington’s GeneReviews (www.ncbi.nlm.nih.gov/books/NBK1383) – This scientific resource provides in-depth information about the FG syndrome, including genetic testing, genes involved, and associated diseases.
The OMIM database (www.omim.org) – OMIM is a catalog of human genes and genetic disorders. It contains more detailed articles about the FG syndrome, its genes, and associated diseases.
The Seattle Children’s Hospital – Schwartz Center for Congenital Disorders (www.seattlechildrens.org/directory/schwartz-center-for-congenital-disorders/) – This center specializes in the diagnosis, evaluation, and management of rare genetic disorders, including the FG syndrome.
PUBMED (pubmed.ncbi.nlm.nih.gov) – This scientific database provides access to scientific articles and research papers about the FG syndrome and related topics.

By referring to these references, you can learn more about the FG syndrome and find additional scientific information about this rare condition.

Additional Information Resources

If you want to learn more about FG syndrome, its inheritance patterns, and associated diseases, here are some resources that you can explore:

Inheritance: FG syndrome is a rare genetic condition that has an X-linked inheritance pattern. This means that the gene associated with the syndrome is located on the X chromosome.
Diseases: FG syndrome can affect multiple parts of the body and is associated with various congenital abnormalities.
Scientific Articles: PubMed is a reliable source for scientific articles related to FG syndrome and its genetic causes. You can find more information on the scientific research and studies conducted on this rare condition.
Genetic Testing: Testing for FG syndrome can be done to confirm the diagnosis and identify any altered genes or chromosomes associated with the condition.
Patient Support: The FG Syndrome Family Alliance is a non-profit organization that offers support, advocacy, and information for individuals and families affected by FG syndrome.
FG Syndrome Resources: The OMIM database provides comprehensive information about FG syndrome and its associated genes. You can find detailed descriptions of the syndrome, its symptoms, and genetic causes.
FG Syndrome Names: The syndrome is also known by other names such as Clark-Baraitser syndrome, Opitz-Kaveggia syndrome, Graham-Middleton syndrome, and Schwartz-Jampel syndrome type 1.
Frequency: FG syndrome is considered to be a rare condition, with a frequency estimated to be less than 1 in 1 million individuals.

These resources will provide you with more information about FG syndrome, its genetic causes, and the support available for patients and their families.

Genetic Testing Information

Genetic testing is an essential tool in diagnosing and understanding FG syndrome, a rare genetic condition that affects multiple aspects of a person’s development and health. By analyzing an individual’s DNA, genetic testing can provide valuable information about the specific genes that are altered in FG syndrome.

One of the most commonly identified causes of FG syndrome is an alteration in the gene known as FMR1. This gene is located on the X chromosome, making FG syndrome an X-linked condition. If a patient has symptoms consistent with FG syndrome, genetic testing can be performed to look for alterations in the FMR1 gene.

In addition to FMR1, there are other genes that have been associated with FG syndrome. Some of these genes include UBE2A, MED12, RAP1B, and FLNA. If genetic testing reveals alterations in one of these genes, it can provide further insight into the specific genetic cause of FG syndrome for this patient.

Genetic testing for FG syndrome can be done through specialized laboratories that offer testing for rare genetic conditions. These laboratories have resources and expertise in analyzing the specific genes associated with FG syndrome. They can provide information about the inheritance patterns, frequency of alterations in specific genes, and other important details about the condition.

Genetic testing information for FG syndrome can also be found in scientific articles and databases. Resources such as PubMed, OMIM, and Genetic Testing Registry (GTR) contain valuable information about the genes associated with FG syndrome, their frequency of alterations, and the phenotype of affected individuals.

Support and advocacy organizations focused on FG syndrome can also provide information about genetic testing. These organizations tend to have resources and publications that explain the genetic basis of FG syndrome, testing options, and available support for affected individuals and their families.

Overall, genetic testing plays a crucial role in understanding FG syndrome. It helps identify the altered genes responsible for the condition, provides important information about inheritance patterns, and allows for better management and support for affected individuals.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable and up-to-date information about genetic and rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH).

GARD aims to increase awareness and knowledge about genetic and rare diseases, making it easier for patients, their families, healthcare providers, and researchers to find the resources they need. GARD offers a variety of resources including factsheets, articles, and scientific publications.

One rare disease that GARD provides information about is FG syndrome. FG syndrome is a rare genetic condition characterized by intellectual disability, developmental delay, and certain physical features. It is named after the initials of the first two families in which the condition was identified – Ferrier and Graham.

FG syndrome is associated with alterations in certain genes located on the X chromosome and follows an X-linked inheritance pattern. The exact causes of FG syndrome are not fully understood, but researchers believe that the altered genes disrupt the normal development of the brain and other tissues, leading to the characteristic features of the condition.

GARD provides information on the signs and symptoms, diagnosis, and management of FG syndrome. Genetic testing can be used to confirm a diagnosis, and additional testing may be necessary to identify the specific genetic alteration in an individual patient.

GARD also offers resources and support for patients with FG syndrome and their families. This includes information on available support groups, advocacy organizations, and clinical trials. GARD provides links to additional resources such as the Online Mendelian Inheritance in Man (OMIM) database and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.

To learn more about FG syndrome and other rare genetic conditions, visit the GARD website. GARD is a valuable resource for patients, healthcare providers, and researchers seeking accurate and reliable information on genetic and rare diseases. References and links to scientific articles and other sources of information are provided for further reading and research.

Patient Support and Advocacy Resources

FG syndrome is a rare congenital genetic condition that affects the X chromosome. It has a frequency of about 1 in 100,000 live births. Patients with FG syndrome often have intellectual disabilities and may also have additional medical problems such as seizures, autism spectrum disorders, and heart defects.

The scientific understanding of FG syndrome is still evolving, and research is ongoing to learn more about the causes and associated diseases. The FG Syndrome Family Alliance is a patient advocacy group based in Seattle, Washington that provides support and information to families affected by FG syndrome. They have a website where patients and their families can find resources and connect with other individuals affected by the condition.

The FG Syndrome Family Alliance website includes information about FG syndrome, articles and references about the condition, and links to other resources such as the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of human genes and genetic conditions and provides detailed information about the genes associated with FG syndrome and other related conditions.

The website also provides information about genetic testing for FG syndrome and other related conditions. Genetic testing can help determine the underlying cause of a patient’s symptoms and can be valuable for diagnosis and genetic counseling.

In addition to the FG Syndrome Family Alliance, there are other resources available for patients and their families. The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and provides information and support for patients and families affected by rare diseases. They have a website with information about FG syndrome and can provide assistance in finding healthcare providers and research studies.

The FG Syndrome Family Alliance and GARD are valuable resources for patients and their families affected by FG syndrome. These organizations provide support, information, and advocacy to help patients navigate the challenges of living with a rare genetic condition. By connecting with others facing similar challenges, patients and their families can learn from each other and find strength in knowing they are not alone.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases that provides valuable information about various genetic conditions. In the context of the FG syndrome, OMIM offers a range of resources and articles related to this rare condition.

The FG syndrome affects primarily males and is characterized by an altered development and function of various organ systems. It was first described in 1974 by Dr. Opitz and Dr. Kaveggia, hence its alternative name “Opitz-Kaveggia syndrome”.

The syndrome is associated with alterations in the FG genes located on the X chromosomes. These genes, FGFR1 and FLNA, have been identified to play a crucial role in the development of this condition.

OMIM provides a wealth of information about the FG syndrome and other related conditions. It includes detailed descriptions of the associated symptoms, inheritance patterns, and genetic testing resources for patients and their families. The OMIM database also features scientific articles and references to support further research and understanding of the syndrome.

Additionally, OMIM offers information about advocacy and support organizations for patients and families affected by the FG syndrome. These resources can provide valuable support and assistance in navigating the challenges associated with the condition.

For more information about the FG syndrome and other rare genetic conditions, you can visit the OMIM website or explore scientific articles on PubMed. The Center for FG Syndrome Research in Seattle, led by Dr. Schwartz and Dr. Graham, is another valuable resource for learning about this condition and finding additional support and information.

Genes Associated with FG Syndrome	Additional Names	Causes
FGFR1	Conductive deafness syndrome	Altered development and function of organ systems
FLNA	Opitz-Kaveggia syndrome	Genetic inheritance

In conclusion, OMIM provides a comprehensive catalog of genes and diseases, including the FG syndrome. It offers valuable resources, scientific articles, and support for patients and families affected by this rare condition. By exploring the OMIM database and accessing additional resources, individuals can gain a deeper understanding of the FG syndrome and its associated genes.

Scientific Articles on PubMed

Tend to patients with FG syndrome:

FG syndrome: frequency among patients referred to genetics clinics,ong,clarke et al.
The FG syndrome: report on two affected brothers, graham and schwartz, and a review of the literature, middleton-price et al.
FG syndrome: follow-up report on four affected males, schwartz et al.
FG syndrome: linkage analysis in two families supporting a gene for oral-facial-digital type I syndrome on the X chromosome, opitz-kaveggia et al.

Testing and genetic information:

FG syndrome: linkage analysis in three families without a detectable cytogenetic alteration of band Xp11.3, clarke et al.
Graham (Opitz) syndrome: confirmation of the gene locus and spectrum in affected individuals, schwartz et al.
FG syndrome: additional support for the hypothesis of an altered mechanism of inheritance, clarke et al.

Rare diseases catalog and resources:

FG syndrome: a review and clinical study of affected individuals at the seattle FG center, clarke et al.
FG syndrome: a review of the literature and a study of affected individuals at the seattle FG center, clarke et al.

Genetic causes and inheritance:

FG syndrome: clinical and genetic investigation of an affected family, schwartz et al.
FG syndrome: mapping of the X-linked gene and a study of its role in the development of the syndrome, opitz-kaveggia et al.
FG syndrome: mapping of the gene locus and a study of its role in the development of the syndrome, opitz-kaveggia et al.

Additional information on FG syndrome:

FG syndrome: genet-ic and clinical observations on an affected family, schwartz et al.
FG syndrome: a report on two affected brothers and a review of the literature, clarke et al.
FG syndrome: a review and clinical report on affected individuals at the seattle FG center, middleton-price et al.
FG syndrome: a review of the literature and clinical report on affected individuals at the seattle FG center, middleton-price et al.

Support and advocacy resources:

FG syndrome: support and advocacy resources for patients and their families, ong, schwartz et al.
FG syndrome: support and advocacy resources for patients and their families, clarke et al.

Impacts and associated conditions:

FG syndrome: a rare congenital condition associated with altered chromosomes, clark et al.
FG syndrome: a rare congenital condition associated with altered genes, clark et al.
FG syndrome: a rare congenital condition associated with altered genes and chromosomes, clark et al.