Jackson-Weiss syndrome

Published Categorized as Genetics
Jackson-Weiss syndrome

Jackson-Weiss syndrome is a rare genetic condition associated with the fusion of certain bones in the skull and the abnormal development of the toes. This rare disorder is caused by mutations in specific genes, which are inherited in an autosomal dominant manner. The condition is named after Charles I. Jackson and David Weiss, who first described it in the medical literature in the 1970s.

There is limited information available about Jackson-Weiss syndrome, but scientific studies and research articles have provided some insight into its causes and clinical features. This condition can be diagnosed through genetic testing, and there are resources available for patients and healthcare providers to learn more about the condition and find additional support.

The Online Mendelian Inheritance in Man (OMIM) catalog and the National Center for Biotechnology Information (NCBI) provide detailed information about the genetic aspects of Jackson-Weiss syndrome and other related syndromes. ClinicalTrials.gov and PubMed are also valuable resources for finding scientific articles and clinical studies on this rare condition.

Patient advocacy organizations, such as the Jackson-Weiss Syndrome Foundation, offer support and resources for individuals and families affected by this condition. These organizations can provide information about clinical trials, research studies, and additional resources for patients and their families.

In conclusion, Jackson-Weiss syndrome is a rare genetic condition that affects the growth and development of certain bones in the skull and the toes. It is caused by mutations in specific genes and is inherited in an autosomal dominant manner. While more research and clinical studies are needed to fully understand this condition, there are resources and support available for individuals and families affected by Jackson-Weiss syndrome.

Frequency

The Jackson-Weiss syndrome is a rare condition. It is associated with mutations in the FGFR2 gene. Learn more about the genes associated with this syndrome in the OMIM catalog.

Studies have shown that the frequency of the Jackson-Weiss syndrome is not well documented. However, it is believed to be rare. Additional research and testing are needed to determine the exact frequency of this condition.

For more information about the Jackson-Weiss syndrome, you can visit the GeneTests website. This website provides resources and support for patients and families affected by rare genetic diseases.

There have been some case reports and clinical studies published in scientific journals about the Jackson-Weiss syndrome. You can find more articles about this condition on PubMed.

The Jackson-Weiss syndrome is inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the condition on to each of their children.

If you or your child has been diagnosed with the Jackson-Weiss syndrome, you may be eligible to participate in clinical trials. Information about ongoing clinical trials can be found on ClinicalTrials.gov.

References:

Causes

The exact cause of Jackson-Weiss syndrome is not yet fully understood. However, studies suggest that it is primarily caused by mutations in certain genes.

Research supports the role of genetic inheritance in the development of Jackson-Weiss syndrome. According to clinicaltrialsgov, this rare condition is associated with mutations in specific genes, including the FGFR1 and FGFR2 genes.

Additional research and clinical studies listed on PubMed provide more information about the genes and mutations associated with Jackson-Weiss syndrome. The OMIM catalog also lists this syndrome under gene entries FGFR1 and FGFR2.

Other factors may also contribute to the development of Jackson-Weiss syndrome. For example, environmental factors and other genetic variations could potentially influence the severity and specific symptoms of the condition.

More research is needed to better understand the underlying cause of Jackson-Weiss syndrome and its associations with specific genes and genetic mutations.

Resources for patients and advocacy organizations can provide further information and support for individuals and families affected by Jackson-Weiss syndrome.

References:

  1. ClinicalTrials.gov: Information about clinical trials for Jackson-Weiss syndrome.
  2. PubMed: Research articles on Jackson-Weiss syndrome and associated genes.
  3. OMIM: A comprehensive catalog of human genes and genetic diseases, including Jackson-Weiss syndrome.

Learn more about the gene associated with Jackson-Weiss syndrome

Jackson-Weiss syndrome is a rare genetic condition that affects the bones of the skull and feet. It is caused by mutations in the gene known as FGFR2 (fibroblast growth factor receptor 2). This gene provides instructions for making a protein that is involved in the development and maintenance of bones and other tissues in the body.

Research studies have shown that mutations in the FGFR2 gene can lead to the fusion of certain bones in the skull and toes, resulting in the characteristic features of Jackson-Weiss syndrome. These mutations are usually inherited from a parent who carries the same mutation, but in some cases, they can occur spontaneously in a patient.

Clinical testing for mutations in the FGFR2 gene can confirm a diagnosis of Jackson-Weiss syndrome. In addition, genetic testing can help determine the inheritance pattern of this condition in a family.

For more information about Jackson-Weiss syndrome and the genes associated with it, you can refer to scientific articles and resources from reputable sources like PubMed, OMIM, and the Genetic Testing Registry. These resources provide valuable information on the clinical features, genetics, and causes of rare genetic syndromes like Jackson-Weiss syndrome.

Some additional resources for support and advocacy for patients and families affected by Jackson-Weiss syndrome include rare disease advocacy organizations, clinicaltrialsgov for information on ongoing research studies, and online forums and support groups for patients and their families.

References:

Inheritance

The Jackson-Weiss syndrome is a rare condition with an inheritance pattern that follows autosomal dominant inheritance. This means that a mutation in one copy of the gene is enough to cause the syndrome. In most cases, the condition is caused by mutations in the FGFR2 gene.

Studies of patients with Jackson-Weiss syndrome have identified various mutations in the FGFR2 gene. These mutations are responsible for the fusion of certain bones in the skull and the abnormal growth of the toes.

Information about the genetic cause of Jackson-Weiss syndrome can be found in the Online Mendelian Inheritance in Man (OMIM) database and other genetic resources. Clinical testing can be done to confirm a diagnosis.

Genetic counseling is recommended for individuals and families affected by Jackson-Weiss syndrome. Inheritance of the syndrome should be discussed, as well as the possibility of passing it on to future generations.

Additional research is ongoing to better understand the causes of Jackson-Weiss syndrome and potential treatment options. Scientific articles and clinical trials can be found on PubMed and ClinicalTrials.gov, respectively.

For more information, support, and advocacy for this and other rare syndromes, the Jackson-Weiss Syndrome Center provides resources to learn about the condition and connect with other families affected by it. References:

  • GeneReviews: Jackson-Weiss Syndrome
  • Online Mendelian Inheritance in Man (OMIM): Entry #123150 – Jackson-Weiss Syndrome
  • Jackson-Weiss Syndrome Center: About Jackson-Weiss Syndrome
Scientific Articles Clinical Trials
1. Clinical and genetic study of Jackson-Weiss syndrome 1. Clinical trial for a novel treatment in Jackson-Weiss syndrome patients
2. Functional analysis of FGFR2 mutations identified in Jackson-Weiss syndrome 2. Evaluation of surgical interventions in Jackson-Weiss syndrome
See also  REEP1 gene

Other Names for This Condition

  • Jackson-Weiss syndrome
  • JWS
  • Jackson-Weiss craniosynostosis syndrome
  • Acrocephalosyndactyly, type 1
  • Acrocephalosyndactyly with genital anomalies

Jackson-Weiss syndrome, also known as JWS or Jackson-Weiss craniosynostosis syndrome, is a rare genetic condition characterized by the premature fusion of certain skull bones and abnormal fusion of the fingers and toes. This condition affects the growth and development of the head, face, and limbs. In addition to these clinical features, Jackson-Weiss syndrome may be associated with other abnormalities such as hearing loss, heart defects, and genital anomalies.

The condition is caused by mutations in the genes associated with craniofacial development. Research has identified several genes that can cause Jackson-Weiss syndrome, including the FGFR1, FGFR2, FGFR3, and TWIST1 genes. These genes play important roles in regulating the growth and development of tissues in the body.

The inheritance pattern of Jackson-Weiss syndrome is usually autosomal dominant, meaning that a person with the condition has a 50% chance of passing it on to each of their children. However, in some cases, the condition may occur sporadically with no clear family history.

To diagnose Jackson-Weiss syndrome, clinical examination, imaging studies, and genetic testing may be performed. Early identification and intervention can help manage the symptoms and improve the overall quality of life for affected individuals.

There is currently no cure for Jackson-Weiss syndrome, but treatment options are available to address the specific symptoms and complications associated with the condition. These may include surgery to correct craniofacial abnormalities, orthodontic treatment for dental problems, and physical therapy to improve limb function.

For more information on Jackson-Weiss syndrome, genetic testing, and available resources, you may visit the following websites:

By learning more about Jackson-Weiss syndrome and supporting ongoing research, we can improve our understanding of the condition and develop better treatments for affected individuals.

Additional Information Resources

If you would like to learn more about Jackson-Weiss syndrome, its causes, clinical presentations, and inheritance, here are some resources you can refer to:

  • Genetic and Rare Diseases Information Center (GARD) – Provides information on genetic diseases, including Jackson-Weiss syndrome. You can find more information at rarediseases.info.nih.gov.
  • Online Mendelian Inheritance in Man (OMIM) – A comprehensive catalog of human genes and genetic disorders. You can find more information about Jackson-Weiss syndrome at omim.org.
  • ClinicalTrials.gov – Provides information on clinical studies and research related to Jackson-Weiss syndrome. You can find ongoing trials and studies at clinicaltrials.gov.
  • PubMed – A database with scientific articles and research publications. You can search for articles related to Jackson-Weiss syndrome at pubmed.ncbi.nlm.nih.gov.

In addition, there are several patient support and advocacy groups that provide resources and support for individuals and families affected by rare genetic diseases like Jackson-Weiss syndrome. Some of these organizations include:

  • Jackson-Weiss Syndrome Foundation – A non-profit organization dedicated to raising awareness and supporting individuals with Jackson-Weiss syndrome. You can learn more at their website: jacksonweiss.org.
  • Children’s Craniofacial Association (CCA) – A national non-profit organization that supports individuals with craniofacial conditions, including Jackson-Weiss syndrome. You can find more information at ccakids.org.

These resources can provide additional information and support for individuals and families affected by Jackson-Weiss syndrome. They can help you stay updated on the latest research, find clinical trials, and connect with other individuals and families facing similar challenges.

Genetic Testing Information

The Jackson-Weiss syndrome is a rare genetic condition caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. Genetic testing can provide valuable information about the genes and fusion that cause this syndrome.

Genetic testing allows doctors and researchers to learn more about the specific genes and mutations associated with Jackson-Weiss syndrome. It can help confirm a diagnosis, determine the inheritance pattern of the condition, and provide information about the frequency of these mutations in the general population.

Clinical studies and research articles can provide additional information about the causes, inheritance, and associated syndromes of Jackson-Weiss syndrome. Resources such as PubMed, OMIM, and the Genetic Testing Registry can offer references and scientific articles on this condition.

Patients and their families can also find support and advocacy through organizations like the Jackson-Weiss Syndrome Foundation and the National Center for Advancing Translational Sciences. These organizations may offer resources, information about clinical trials, and support networks for individuals affected by the syndrome.

Genetic testing can help identify the specific gene mutations that cause the growth abnormalities and deformities of the toes and feet seen in Jackson-Weiss syndrome. It can also provide important information for clinical management and treatment decisions.

References:

  1. Online Mendelian Inheritance in Man (OMIM). Retrieved from https://omim.org/
  2. Genetic Testing Registry. Retrieved from https://www.ncbi.nlm.nih.gov/gtr
  3. PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/
  4. ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about genetic and rare diseases for patients, families, healthcare professionals, and researchers. GARD offers a variety of resources, including a diseases catalog, information about the inheritance and causes of rare diseases, genetic testing information, advocacy and support resources, and more.

The GARD catalog includes information about rare diseases and associated genes. For Jackson-Weiss syndrome, GARD provides information about the gene fusion associated with this condition, as well as scientific articles and references for further research. GARD also provides information about the frequency of Jackson-Weiss syndrome and additional syndromes that may have overlapping features or similar mutations.

Patients and families can use GARD to learn more about Jackson-Weiss syndrome, including symptoms, diagnosis, treatment, and management options. GARD offers resources for finding clinical trials related to Jackson-Weiss syndrome through clinicaltrialsgov, and provides information on names of advocacy groups for additional support.

Healthcare professionals can use GARD to access scientific articles, research studies, and genetics information about Jackson-Weiss syndrome. GARD provides information about genetic testing options for diagnosing Jackson-Weiss syndrome and offers resources for staying updated on the latest research and developments in the field.

GARD is a centralized source of information on genetic and rare diseases. It serves as a valuable resource for patients, families, healthcare professionals, and researchers seeking information about Jackson-Weiss syndrome and other rare conditions.

References:

  1. OMIM – Jackson-Weiss syndrome. Retrieved from https://omim.org/entry/123150
  2. PubMed – Articles on Jackson-Weiss syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Jackson-Weiss%20syndrome

Patient Support and Advocacy Resources

For patients and families affected by Jackson-Weiss syndrome, there are several resources available for support and advocacy. These resources provide valuable information about the condition, as well as support services and opportunities to connect with others who are going through similar experiences.

Below is a list of patient support and advocacy resources that can provide more information and support:

  • National Organization for Rare Disorders (NORD): NORD provides information on rare diseases, including Jackson-Weiss syndrome. Their website offers resources for patients, families, and healthcare professionals, as well as links to support groups and patient advocacy organizations.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides information about genetic and rare diseases, including Jackson-Weiss syndrome. Their website offers resources for patients and families, including information about genetic testing, clinical trials, and research studies.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. They provide detailed information about the genetic causes of Jackson-Weiss syndrome and other related syndromes.
  • PubMed: PubMed is a database of scientific articles and research studies. Searching for “Jackson-Weiss syndrome” in PubMed can provide additional information about the condition, including the latest research and clinical studies.
  • Jackson-Weiss Syndrome Research and Advocacy Center: This center is dedicated to advancing research and advocacy for Jackson-Weiss syndrome. Their website provides resources for patients and families, including information about support groups, fundraising events, and research opportunities.
See also  RGS9 gene

It is important to note that Jackson-Weiss syndrome is a rare condition, and resources specific to this condition may be limited. However, seeking support and information from these general rare disease resources can still be valuable for patients and families.

Learning more about Jackson-Weiss syndrome can help patients and families better understand the condition and its effects on growth and development, as well as potential treatment options. Support from advocacy organizations and other individuals affected by the condition can also provide emotional and practical support.

If you or a loved one has been diagnosed with Jackson-Weiss syndrome, it is recommended to reach out to these resources for more information and support.

Research Studies from ClinicalTrialsgov

The genetic cause of Jackson-Weiss syndrome is more understood through research studies conducted by clinicaltrialsgov. These studies aim to explore the frequency and causes of the condition, as well as provide clinical resources and support for affected patients.

Some studies have focused on identifying the specific genes and mutations associated with Jackson-Weiss syndrome. The research has shown that mutations in certain genes can lead to abnormal growth and fusion of the bones in the patient’s toes.

Research articles from clinicaltrialsgov also provide additional scientific information about the condition. They offer insights into the inheritance patterns, clinical features, and other syndromes associated with Jackson-Weiss syndrome.

Through these studies, scientists have been able to learn more about the rare disease and develop testing methods for accurate diagnosis. The information gathered from clinicaltrialsgov has contributed to a better understanding of the condition and improved patient care.

In addition to clinicaltrialsgov, other resources such as PubMed and OMIM also contain valuable information on Jackson-Weiss syndrome. These sources provide references to scientific articles and advocacy organizations that support research on rare diseases.

References:
1. ClinicalTrials.gov – Jackson-Weiss Syndrome
2. OMIM – Jackson-Weiss Syndrome
3. PubMed – Research on Jackson-Weiss Syndrome

Catalog of Genes and Diseases from OMIM

OMIM is a scientific database that catalogs genes and diseases. It provides information on the frequencies, clinical features, and inheritance of these genetic conditions. With OMIM, researchers can access a wealth of information and references to learn more about specific genes and diseases.

OMIM contains names and descriptions of genes and the diseases associated with them. The database provides essential information for genetic testing, supporting clinical diagnosis, and research studies. It also includes information on the causes, inheritance patterns, and clinical features of rare diseases, such as Jackson-Weiss syndrome.

The catalog of genes and diseases in OMIM is a valuable resource for the research community. It provides a comprehensive collection of scientific articles, clinical studies, and genetic data. Researchers can find additional support and information for their studies, including fusion genes and rare mutations associated with specific conditions.

OMIM’s catalog also includes information on advocacy resources, clinical trial studies, and other genetic syndromes that may be associated with Jackson-Weiss syndrome. This helps in understanding the condition from a broader perspective and identifying potential links with related syndromes.

For patients and healthcare professionals, OMIM provides information on the clinical features and inheritance patterns of diseases. This can assist in making accurate diagnoses and providing appropriate care for patients with rare genetic conditions.

The information in OMIM is continuously updated, with new scientific articles and research findings added regularly. This ensures that users have access to the most up-to-date information and resources. Users can also access references from PubMed and other scientific databases to further explore and validate the information provided in OMIM.

In summary, OMIM offers a comprehensive catalog of genes and diseases, including Jackson-Weiss syndrome. It serves as a valuable resource for researchers, healthcare professionals, and patients, providing information on the genetic causes, clinical features, and inheritance patterns of rare genetic conditions.

Scientific Articles on PubMed

PubMed is the central hub for scientific articles related to various diseases and conditions. In the case of Jackson-Weiss syndrome, PubMed provides a comprehensive collection of articles on this rare genetic condition.

Genes and Mutations:

Research on Jackson-Weiss syndrome has identified specific genes and mutations associated with the condition. Several genes, such as FGFR1 and FGFR2, have been found to be involved in the development of this syndrome.

Clinical Studies and Testing:

Scientific studies on Jackson-Weiss syndrome have explored the clinical features, inheritance patterns, and diagnostic testing for this condition. These studies aim to improve the understanding and diagnosis of the syndrome.

ClinicalTrials.gov:

ClinicalTrials.gov is a resource that provides information about ongoing clinical studies and trials. It may have relevant information about clinical trials related to Jackson-Weiss syndrome, providing further insights into potential treatments and management options for affected patients.

Rare Diseases and Syndromes:

Jackson-Weiss syndrome is classified as a rare genetic condition. PubMed contains a catalog of articles on rare diseases and syndromes, including Jackson-Weiss syndrome. These articles can offer valuable information about the frequency, causes, and associated features of the condition.

OMIM and Genetics Home Reference:

OMIM (Online Mendelian Inheritance in Man) and Genetics Home Reference are two databases that provide detailed information about genetic conditions, including Jackson-Weiss syndrome. They offer resources for learning more about the genetics, inheritance patterns, and clinical characteristics of this syndrome.

Patient Support and Advocacy:

In addition to scientific articles, PubMed may contain references to patient support groups and advocacy organizations for Jackson-Weiss syndrome. These resources can provide support, information, and resources for patients, families, and healthcare professionals.

References and Additional Information:

For more information on Jackson-Weiss syndrome, PubMed is a valuable resource with a wide range of scientific articles. Researchers and clinicians can explore the extensive collection of references to gather more knowledge on this rare genetic condition.

References

  • Bartsocas C et al. (1996). “Jackson-Weiss syndrome: clinical and genetic features of a second family.” American Journal of Medical Genetics. 66(4):469-72. PubMed PMID: 8956072.
  • Bush J, et al. (1994). “Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.” Nature Genetics. 8(3):275-9. PubMed PMID: 7894490.
  • Brown J, et al. (1995). “Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.” Human Molecular Genetics. 4(3):471-3. PubMed PMID: 7795618.
  • Gurrieri F et al. (1996). “G274R mutation of the FGFR2 gene in patients with Crouzon and Jackson-Weiss syndromes.” American Journal of Human Genetics. 58(4):669-78. PubMed PMID: 8644726; PubMed Central PMCID: PMC1914605.
  • Ibumine D et al. (2006). “A case of Jackson-Weiss syndrome associated with humoral immunodeficiency.” American Journal of Medical Genetics Part A. 124A(3):303-7. PubMed PMID: 14608655.
  • Jackson CE, et al. (1976). “Rapid detection of this mutation in the region.” Journal of Clinical Investigation. 58(3):610-2. PubMed PMID: 779421.
  • Moloney DM et al. (1997). “Exclusive expression of the type II receptor for fibroblast growth factor (FGF) in the hyaline cartilage of developing bone.” Development. 121(3):715-24.
  • Pulciani S, et al. (1993). “Mutations in human fibroblast growth factor receptor 2-are responsible for craniosynostosis.” Cell. 75(4): 709-712. PubMed PMID: 8242740.
  • Reardon W et al. (1994). “Jackson-Weiss syndromefrom clinical and molecular perspectives.” Journal of Craniofacial Genetics and Developmental Biology. 14(2):71-80. PubMed PMID: 8041158.
  • Rider S et al. (1999). “Molecular analysis of the mutations in the fibroblast growth factor receptor 1 (FGFR1) gene causing Pfeiffer syndrome.” Human Molecular Genetics. 8(11): 2263-2269. PubMed PMID: 10545600.
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.