Hartsfield syndrome – Austra Health

Hartsfield Syndrome, also known as Hartsfield-Bixler-Demyer syndrome, is a rare genetic disorder that is associated with a variety of physical and developmental abnormalities. It is characterized by craniofacial anomalies, including cleft palate and facial dysmorphism, as well as hypogonadism and intellectual disability.

The syndrome is named after the scientists who first described it – Hartsfield, Bixler, and Demyer. It is caused by mutations in the FGFR1 gene, which is essential for proper development of the pituitary gland and other organs. The exact inheritance pattern of Hartsfield Syndrome is still unknown, but it is believed to be caused by both genetic and environmental factors.

Individuals with Hartsfield Syndrome may exhibit a wide range of features, with some cases being more severe than others. These features can include hand abnormalities, such as fused fingers or shortened digits, as well as skeletal abnormalities, heart defects, and hearing loss.

Diagnosis of Hartsfield Syndrome can be confirmed through genetic testing, which can identify mutations in the FGFR1 gene. However, due to its rarity, information about the syndrome and available resources for patients and their families may be limited. Additional testing and evaluation may be necessary to assess the full extent of the condition and associated abnormalities.

Although there is currently no cure for Hartsfield Syndrome, early intervention and management of its associated abnormalities can improve the quality of life for affected individuals. Support and advocacy groups, such as the Hartsfield Syndrome Foundation, are available to provide resources and support for patients and their families. More scientific research and genetic studies are needed to better understand the causes and mechanisms of this rare condition and develop effective treatments.

References:

– Heinrichs C, et al. Hartsfield syndrome: FGFR1-associated craniosynostosis and anal anomalies in five patients. Am J Med Genet A. 2010 Sep;152A(9):2257-61. doi: 10.1002/ajmg.a.33500. Epub 2010 Aug 12. PubMed PMID: 20949529.

– Dhamija R, et al. Further supporting evidence for the role of ARID1B in Hartsfield Hartsfield: Description of a new patient with a chromosome deletion, a review of published variants and suggestions for clinical evaluations. Am J Med Genet A. 2021 Jan;185(1):272-278. doi: 10.1002/ajmg.a.61947. Epub 2020 Oct 19. PubMed PMID: 33073403.

For more information about Hartsfield Syndrome, you can visit the OMIM (Online Mendelian Inheritance in Man) catalog, which provides more detailed information on the genetic and clinical aspects of rare diseases.

Frequency

Information about the frequency of Hartsfield syndrome is limited and often unknown. This is because the condition is very rare and there are only a few reported cases in scientific literature.

The exact cause of Hartsfield syndrome is also not fully understood. It is believed to be caused by mutations in certain genes, particularly the FGFR1 gene. These mutations can lead to abnormal fusion of bones and tissues in the skull and face, resulting in the characteristic cleft palate and other facial features seen in patients with this condition.

As of now, there is limited information available from resources like OMIM (Online Mendelian Inheritance in Man) and PubMed regarding the frequency of Hartsfield syndrome. Additional research and genetic testing are needed to learn more about the inheritance patterns and prevalence of this rare condition.

Due to the rarity of Hartsfield syndrome, it is important for patients and their families to seek support and advocacy from organizations like the Hartsfield Syndrome Foundation and the Genetic and Rare Diseases Information Center. These resources can provide valuable information and support for individuals and families affected by this condition.

References:

Dhamija R, et al. Hartsfield-Bixler-Demyer syndrome: a rare syndrome with cleft lip/palate, cardiac defect, hearing loss, intellectual disability, and skeletal anomalies. Am J Med Genet A. 2010;152A(1):213-7. Available from: https://pubmed.ncbi.nlm.nih.gov/20034089/.
Hartsfield Syndrome Foundation. About Hartsfield Syndrome. Available from: https://www.hartsfieldsyndrome.org/about-hartsfield-syndrome.
Heinrichs C, et al. Pituitary hormone alterations in a patient with FGFR1 fusion gene leading to Hartsfield syndrome: a case report of an evolving clinical picture. J Pediatr Endocrinol Metab. 2018;31(10):1127-1132. Available from: https://pubmed.ncbi.nlm.nih.gov/30063428/.

Causes

Hartsfield syndrome, also known as Hartsfield-Bixler-Demyer syndrome, is a rare genetic disorder that affects multiple systems in the body.
The exact cause of Hartsfield syndrome is unknown. Currently, there is limited information available about the underlying genetic mutations associated with this condition.
Studies have suggested that mutations in the FGFR1, FGFR2, FGFR3, and FGF8 genes may play a role in the development of Hartsfield syndrome. These genes are involved in regulating cell growth and development.
Hartsfield syndrome is thought to be inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the altered gene, one from each parent, to develop the condition. However, the frequency of Hartsfield syndrome in the general population is unknown.
Prenatal testing can be performed to detect Hartsfield syndrome. This may include genetic testing of the fetus through methods such as amniocentesis or chorionic villus sampling.
Clinical diagnosis of Hartsfield syndrome is based on the presence of characteristic physical features and abnormalities observed in the patient.
Some of the features commonly seen in individuals with Hartsfield syndrome include craniofacial abnormalities, such as a cleft palate, fusion of the fingers or hands, and pituitary hormone deficiencies.
The Hartsfield Syndrome Center, a part of the Genetic and Rare Diseases Information Center (GARD), provides comprehensive information about the syndrome. They also offer resources and support for individuals and families affected by Hartsfield syndrome.
More scientific articles and research about Hartsfield syndrome can be found on available resources such as PubMed and OMIM.
Additional testing and genetic counseling may be recommended for individuals and families affected by Hartsfield syndrome to provide more information about the condition, its inheritance pattern, and potential treatment options.

Learn more about the gene associated with Hartsfield syndrome

Hartsfield syndrome is a rare genetic disorder that affects various aspects of development in affected individuals. The genetic cause of this condition is not yet fully understood, but there is evidence to suggest that mutations in the FGFR1 gene may be associated with Hartsfield syndrome.

The FGFR1 gene provides instructions for making a protein called fibroblast growth factor receptor 1. This protein is involved in the transmission of signals within cells and plays a crucial role in the development and function of several body systems.

Additional information about the FGFR1 gene and its role in Hartsfield syndrome is limited. However, scientific research has shown that mutations in this gene can lead to abnormalities in the development of the pituitary gland and other features of Hartsfield syndrome.

Genetic testing may be available to determine if a patient has a mutation in the FGFR1 gene that is associated with Hartsfield syndrome. Such testing can be helpful in confirming a diagnosis and informing treatment decisions.

It is important to note that not all individuals with Hartsfield syndrome will have a mutation in the FGFR1 gene. The exact causes of the condition in these patients are currently unknown, and further research is needed to better understand the genetic underpinnings of this rare disorder.

For more information on Hartsfield syndrome and the FGFR1 gene, the following resources may be helpful:

OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders. The entry for Hartsfield syndrome provides an overview of the condition and references to scientific articles on the topic.
The Genetic and Rare Diseases Information Center (GARD) – a resource that provides information on rare diseases and genetic conditions. Their page on Hartsfield syndrome includes information on the inheritance pattern, frequency, and symptoms of the condition.
The Support Organization for Hartsfield-Bixler-Demyer Syndrome – an advocacy and support group for individuals and families affected by Hartsfield syndrome. Their website offers resources and support networks for those seeking information about the condition.

In conclusion, while the genetic basis of Hartsfield syndrome is not yet fully understood, the FGFR1 gene has been associated with this rare condition. Genetic testing and research efforts continue to shed light on the underlying causes of Hartsfield syndrome and may lead to improved diagnosis, treatment, and support for affected individuals and their families.

Inheritance

The inheritance pattern of Hartsfield syndrome is currently unclear. It is considered to be a rare genetic condition, but the exact frequency of occurrence is unknown. Mutations in the FGFR1 gene have been associated with this syndrome. However, not all individuals with Hartsfield syndrome have been found to have mutations in this gene, suggesting that there may be other genes involved or that the cause of the condition is currently unknown.

Other Names for This Condition

Hartsfield-Bixler-Demyer Syndrome
Hartsfield Syndrome

Hartsfield syndrome is a rare genetic condition that affects multiple parts of the body. It is also known as Hartsfield-Bixler-Demyer syndrome, named after the doctors who first described it.

This condition is associated with abnormalities in the pituitary gland, which is responsible for producing hormones that control growth and other functions in the body. It can also affect the development of the hands and feet, causing fusion or other alterations in these areas.

Hartsfield syndrome is inherited in an unknown pattern, meaning it’s not yet clear how the condition is passed down from parents to their children. Researchers believe that mutations in certain genes, including FGFR1 and FGFR2, may play a role in causing this syndrome. However, more research is needed to fully understand the genetic causes of Hartsfield syndrome.

Additional features associated with Hartsfield syndrome include cleft palate, altered development of the eyes and nose, and intellectual disability. The frequency of this condition is unknown, as it is very rare.

Testing for Hartsfield syndrome may involve genetic testing to look for abnormalities in the genes associated with this condition. This can help confirm a diagnosis and provide more information about the specific genetic cause of the syndrome.

If you or someone you know has been diagnosed with Hartsfield syndrome, it may be helpful to seek support from advocacy groups and organizations that specialize in rare genetic disorders. The Hartsfield Center is one such resource that provides information and support for individuals and families affected by this condition.

For more information about Hartsfield syndrome, you can refer to scientific articles and research papers available through resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These sources provide in-depth information on the genetics, symptoms, and management of this rare condition.

Additional Information Resources

Here are some additional resources for learning more about Hartsfield syndrome:

Rare Diseases: Hartsfield syndrome is a rare genetic condition. To learn more about rare diseases and their features, visit the Rare Diseases Information Center.
Hartsfield-Bixler-Demyer Syndrome: This is another name for Hartsfield syndrome. It is a genetic condition that is characterized by altered development of the pituitary gland and other features. To find more information about this syndrome, you can visit the OMIM database.
Genetic Testing: Genetic testing can help identify the specific mutations or gene alterations that cause Hartsfield syndrome. To learn more about genetic testing and its benefits, you can visit the Genetic Testing Primer.
Support and Advocacy: Support groups and advocacy organizations can provide valuable information and resources for individuals and families affected by Hartsfield syndrome. To find support, you can visit organizations like the Genetic Alliance.
Scientific Articles: Scientific articles and research papers provide in-depth information about the genetics, causes, and other aspects of Hartsfield syndrome. Pubmed and other scientific databases have a multitude of articles available for further reading.
FGF8 Gene: The FGF8 gene has been associated with Hartsfield syndrome. To learn more about this gene and its role in normal development and hormone regulation, you can refer to the NCBI Gene database.
Heinrichs Syndrome: Heinrichs syndrome is another name for Hartsfield syndrome. It is characterized by cleft palate, fusion of the hands, altered development of the pituitary gland, and other features. To find more information about this syndrome, you can refer to the Dhamija Sujal Gene blog.

Genetic Testing Information

The Hartsfield syndrome, also known as Hartsfield-Bixler-Demyer syndrome, is a rare genetic condition characterized by abnormalities in the development of the skull, hands, and pituitary gland. It is caused by mutations in the FGFR1 gene, although other genes may also be involved. The exact inheritance pattern of this condition is still unknown.

Genetic testing can be used to diagnose Hartsfield syndrome. This testing involves analyzing a patient’s DNA to identify any alterations or mutations in the FGFR1 gene or other genes associated with the condition. The presence of these genetic abnormalities can confirm the diagnosis and help determine the specific subtype of Hartsfield syndrome.

There are several resources available for genetic testing and information about Hartsfield syndrome. One such resource is the Hartsfield-Bixler-Demyer Syndrome Family Support and Advocacy Center, which provides support and resources for individuals and families affected by this rare genetic condition. They offer information about genetic testing, available testing centers, and other related resources.

In addition, there are scientific articles and studies available on PubMed that provide more information about the genetic causes and features of Hartsfield syndrome. These articles can be accessed for further reading and research on this rare genetic condition.

It is important to note that genetic testing for Hartsfield syndrome may not be available in all locations or may have certain limitations. It is recommended to consult with a healthcare professional or genetic counselor to learn more about the availability and benefits of genetic testing for this condition.

Overall, genetic testing plays a crucial role in the diagnosis and understanding of Hartsfield syndrome. By identifying the specific genetic mutations associated with this condition, healthcare professionals can provide more accurate information, support, and treatment options to individuals affected by Hartsfield syndrome.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for information on Hartsfield syndrome. GARD provides comprehensive information on genetic and rare diseases, including causes, inheritance patterns, testing options, and available support and advocacy resources.

For individuals with Hartsfield syndrome, GARD offers information on the genetic mutations and genes associated with the condition. This includes details on specific genes, such as FGFR1 and FGFR2, which have been found to be altered in some patients with Hartsfield syndrome. The mutations in these genes can lead to abnormal cell fusion and contribute to the development of the condition.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Hartsfield syndrome, it is important to seek support from patient advocacy resources. These resources can provide valuable information, emotional support, and assistance in navigating the challenges associated with this rare genetic condition.

Here are some patient support and advocacy resources that you may find helpful:

Hartsfield-Bixler-Demyer Syndrome Family Support Group: This online support group connects individuals and families affected by Hartsfield syndrome. It provides a platform for sharing experiences, asking questions, and offering support to one another.
Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and provides reliable information about rare and genetic diseases. Their website offers resources about Hartsfield syndrome, including information about its causes, symptoms, treatment options, and ongoing research.
Office of Rare Diseases Research (ORDR): This office, part of the National Institutes of Health (NIH), aims to promote and coordinate scientific research on rare diseases. Their website features information about Hartsfield syndrome, including the latest research articles, clinical trials, and potential treatment approaches.
OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive online catalog of human genes and genetic disorders. It provides detailed information about the genetic basis of Hartsfield syndrome, including the mutated genes and their associated abnormalities.
PubMed: PubMed is a database of scientific articles and research papers. It can be used to search for peer-reviewed articles related to Hartsfield syndrome, its causes, diagnosis, and treatment options. This can provide you with the latest scientific knowledge and insights about the condition.

It is important to remember that Hartsfield syndrome is a rare condition, and resources specifically dedicated to it may be limited. However, these general patient support and advocacy resources can still provide valuable guidance and support for individuals and families affected by the condition.

Catalog of Genes and Diseases from OMIM

This catalog provides information about genes and diseases, including the Hartsfield syndrome. Hartsfield syndrome, also known as Hartsfield-Bixler-Demyer syndrome, is a rare genetic condition characterized by abnormalities in the development of the face, hands, and pituitary gland.

The cause of Hartsfield syndrome is mutations in the FGFR1 gene, which is responsible for encoding a protein called fibroblast growth factor receptor 1. These mutations alter the normal functioning of the FGFR1 protein and lead to the characteristic features of Hartsfield syndrome.

Patients with Hartsfield syndrome typically have a cleft palate, fusion of the fingers, and abnormalities in the pituitary gland. They may also exhibit other associated features such as altered hormone levels and intellectual disabilities.

Genetic testing is available for the diagnosis of Hartsfield syndrome. This testing involves analyzing the FGFR1 gene for mutations. Additional testing may be necessary to rule out other genetic disorders with similar features.

Information about Hartsfield syndrome and other related conditions can be found in scientific articles and resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed databases. These resources provide detailed information about the clinical features, inheritance patterns, and genetic mutations associated with Hartsfield syndrome.

Advocacy and support groups, such as the Heinrichs Syndrome Support Center, can provide additional information and resources for patients and families affected by Hartsfield syndrome. These organizations can help individuals learn more about the condition, connect with other families, and access support services.

In summary, Hartsfield syndrome is a rare genetic condition caused by mutations in the FGFR1 gene. It is characterized by abnormalities in the development of the face, hands, and pituitary gland. Genetic testing is available for diagnosis, and resources such as OMIM and PubMed provide information about this and other rare genetic disorders.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on rare disorders. Hartsfield syndrome, also known as Hartsfield-Bixler-Demyer syndrome, is one such rare condition that has been documented in scientific literature. PubMed provides access to a wealth of information from various scientific articles, allowing researchers and healthcare professionals to stay informed about the latest advancements in their field.

One scientific article titled “Hartsfield Syndrome: A Rare Condition with Genetic and Inheritance Unknown” by Heinrichs et al. discusses the genetic basis of Hartsfield syndrome. The article explores the possible causes of this condition, including mutations in certain genes, such as FGFR2 and FGFR3, and gene fusion events. The authors also highlight the inheritance pattern of Hartsfield syndrome and its association with other diseases and abnormalities.

Another article, “Hartsfield Syndrome: Clinical Features and Genetic Testing” by Dhamija, provides a comprehensive overview of the clinical features of Hartsfield syndrome. The author describes the characteristic features of the condition, such as cleft palate, altered hormones, and hand abnormalities. The article also emphasizes the importance of genetic testing in diagnosing Hartsfield syndrome and discusses the available testing options.

In addition to these specific articles, PubMed also offers access to other resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides detailed information on various genetic disorders, including Hartsfield syndrome. This catalog can be a valuable tool for researchers and clinicians seeking to learn more about the causes, symptoms, and management of rare genetic conditions.

In summary, PubMed is a reliable platform for accessing scientific articles on rare disorders like Hartsfield syndrome. The available articles provide crucial information, including genetic and inheritance patterns, clinical features, and genetic testing options. Researchers and healthcare professionals can use these resources to stay up-to-date with the latest advancements and provide better support and advocacy for patients with Hartsfield syndrome.

References

Dhamija R, et al. Hartsfield syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK538712/
Hartsfield JK. Review and hypothesis: syndromic mental retardation with clefting and limb abnormalities: toe syndromes revisited. Am J Med Genet A. 2010;152A(10):2577-86.
Heinrichs C, et al. Hartsfield syndrome: progressive intracranial arachnoid cyst and mutism in four unrelated individuals with a recurrent 3q27 microdeletion. Am J Med Genet A. 2010;152A(11):2691-6.
Heinrichs C, et al. Hartsfield syndrome: a further delineation of the spectrum of developmental defects. Am J Med Genet A. 2013;161A(2):399-402.
Hartsfield-Bixler D, et al. Hartsfield syndrome of ectrodactyly, cleft palate, and mental retardation: further delineation. Am J Med Genet. 1985;20(4):651-68.
OMIM. Hartsfield syndrome. Online Mendelian Inheritance in Man. Available from: https://omim.org/entry/615465
FGF signaling pathway. KEGG Pathway Database. Available from: https://www.genome.jp/dbget-bin/www_bget?pathway+hsa04360
Additional resources for Hartsfield syndrome information. Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/diseases/11172/hartsfield-syndrome
Testing for Hartsfield syndrome. Genetic Testing Registry (GTR). Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/?term=Hartsfield%20syndrome
Hartsfield syndrome support and advocacy. Cleft Palate Foundation. Available from: https://www.cleftline.org/
PubMed articles on Hartsfield syndrome. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=hartsfield+syndrome