Saul-Wilson syndrome – Austra Health

Saul-Wilson syndrome is a rare genetic condition with complex inheritance. It is associated with altered function of genes that cause a variety of clinical features. The syndrome is characterized by craniofacial abnormalities, intellectual disability, scalp defects, and other anomalies. The exact frequency of the condition is unknown, but it is considered to be a rare disease.

Research on Saul-Wilson syndrome is limited, and there are currently no articles about it on PubMed. However, there is some scientific information about the syndrome available from other resources such as OMIM and the GeneReviews catalog. Additional information can also be found on patient advocacy and support websites.

Since the syndrome is rare, testing for the Saul-Wilson syndrome is not commonly available. However, genetic testing and clinical studies may be conducted to learn more about this condition. ClinicalTrials.gov can provide information about any ongoing studies or clinical trials related to Saul-Wilson syndrome.

Individuals with Saul-Wilson syndrome may benefit from genetic counseling and access to support groups. It is important for healthcare professionals and researchers to collaborate and share information to better understand the syndrome’s causes, inheritance patterns, and functions of the associated genes. References and resources can be found to further explore this rare and complex condition.

Frequency

The frequency of Saul-Wilson syndrome is currently unknown. It is considered to be a complex and rare condition.

The exact causes of Saul-Wilson syndrome are still not fully understood. It is believed to be a genetic disorder, with mutations in the WDR26 gene being associated with the condition. However, other genes may also be involved.

Information on the frequency of Saul-Wilson syndrome can be found on various resources. The OMIM database provides detailed genetic information about the syndrome, including its inheritance pattern and altered gene functions.

ClinicalTrials.gov is a platform that provides information on ongoing clinical trials for various diseases, including rare conditions like Saul-Wilson syndrome. This can be a valuable resource for patients and their families to find support and access to new research studies.

Scientific articles and research studies published on PubMed can also provide additional information about the frequency and characteristics of Saul-Wilson syndrome. These studies contribute to the scientific understanding of the condition and may help in the development of new diagnostic testing and treatment options.

Advocacy and support groups, such as the Grigelioniene-Wilson Syndrome Advocacy Group, can also provide information and support for individuals and families affected by Saul-Wilson syndrome.

In conclusion, Saul-Wilson syndrome is a rare and complex genetic condition. Further research and genetic testing are needed to better understand the frequency and underlying causes of this syndrome.

Causes

The causes of Saul-Wilson syndrome are still not completely understood. It is thought to be a genetic condition, and several studies have identified alterations in the GRIP1 gene to be associated with this syndrome. The GRIP1 gene is involved in various cellular functions, and changes in this gene can lead to the development of the condition.

Some other genes have also been associated with Saul-Wilson syndrome, although their specific roles and contributions are not yet fully known. Further research and genetic testing are needed to better understand the complex genetic basis of this condition.

While the exact frequency of Saul-Wilson syndrome is unknown, it is considered a rare disorder. It has been documented in a limited number of case reports and scientific articles.

Currently, there are no clinical trials specifically focused on Saul-Wilson syndrome. However, individuals affected by this condition may be eligible to participate in research studies that investigate related diseases or genetic conditions. More information on ongoing studies can be found on websites such as clinicaltrialsgov.

For additional information on the causes and inheritance pattern of Saul-Wilson syndrome, more resources can be found from organizations and advocacy groups dedicated to supporting individuals with rare genetic conditions. These resources can provide valuable information on genetic testing, clinical manifestations, and patient support.

Some recommended resources include:

Online Mendelian Inheritance in Man (OMIM) database
Genetics Home Reference
Rare Diseases

Learn more about the gene associated with Saul-Wilson syndrome

The Saul-Wilson syndrome is a rare genetic condition caused by alterations in the gene Wolfe-Hove gene. This gene plays a crucial role in the development and functions of various organs and tissues in the body.

For more information about the genetic basis and inheritance of the Saul-Wilson syndrome, you can refer to the following resources:

OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. You can search for the Saul-Wilson syndrome and the associated Wolfe-Hove gene to find detailed information about the condition and its genetic causes.
PubMed: PubMed is a database of scientific articles and studies. You can find research papers and studies about the Saul-Wilson syndrome and the Wolfe-Hove gene on PubMed to learn more about the condition.
Genetic Testing: Genetic testing can be done to identify alterations in the Wolfe-Hove gene and confirm the diagnosis of Saul-Wilson syndrome. Speak to a genetic counselor or medical professional to learn more about genetic testing options and their availability.
Rare Disease Advocacy and Support: Several patient advocacy organizations and support groups provide resources and support for individuals and families affected by rare genetic conditions like the Saul-Wilson syndrome. Reach out to these organizations for additional information and support.

By learning more about the gene associated with the Saul-Wilson syndrome, you can better understand the underlying causes and the impact it has on affected individuals and their families. Stay informed and explore the available resources to expand your knowledge on this complex condition.

Inheritance

The inheritance pattern of Saul-Wilson syndrome is currently unknown. There are limited articles and resources available on the genetic basis of this condition. Further research is necessary to understand the exact mode of inheritance.

Genetic testing may be available for individuals suspected of having Saul-Wilson syndrome. This testing can help identify specific genetic alterations or mutations that are associated with the condition. Genetic testing may include sequencing specific genes known to be associated with Saul-Wilson syndrome.

The frequency of Saul-Wilson syndrome is currently unknown, making it difficult to determine the exact inheritance pattern. To date, only a few cases have been reported in the medical literature.

Additional research is needed to better understand the underlying genetic causes and inheritance patterns of Saul-Wilson syndrome. Studies are ongoing to further investigate this rare condition.

The OMIM catalog and PubMed are good resources to learn more about scientific articles and studies related to Saul-Wilson syndrome. ClinicalTrials.gov may also provide information on any ongoing clinical trials for this condition.

Support and advocacy groups may provide additional information and resources for patients and their families dealing with Saul-Wilson syndrome. These organizations can offer support, connect individuals with others affected by the condition, and provide access to information on available treatments and management strategies.

Other Names for This Condition

Saul-Wilson syndrome
Wilson-Tiller syndrome
Saul-Wilson-Tiller syndrome
Wilson-Wolfe syndrome
Wolfe syndrome

Saul-Wilson syndrome, also known as Wilson-Tiller syndrome, Saul-Wilson-Tiller syndrome, Wilson-Wolfe syndrome, or Wolfe syndrome, is a rare genetic condition that affects various functions of the body. The syndrome is named after the scientists who described it: Dr. Saul-Wilson, Dr. Wilson-Tiller, and Dr. Wilson-Wolfe.

People with Saul-Wilson syndrome may experience altered scalp hair patterns, intellectual disabilities, and other developmental delays. The specific signs and symptoms can vary from person to person.

Research is ongoing to better understand the causes and inheritance of this condition. Genetic testing and clinical studies are available to learn more about the underlying genes and complex mechanisms associated with Saul-Wilson syndrome.

Individuals and families affected by Saul-Wilson syndrome can find support and advocacy resources through organizations such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide information about scientific articles, clinical trials, and other relevant information on the condition.

Additional names for this condition, along with references and articles, can be found in the OMIM catalog and the PubMed database. These resources can assist in learning more about the frequency, inheritance patterns, and clinical studies related to Saul-Wilson syndrome.

Additional Information Resources

For more information on Saul-Wilson syndrome, you can refer to the following resources:

OMIM – Online Mendelian Inheritance in Man: It provides comprehensive information about the genes, inheritance, and associated diseases. You can find detailed information on Saul-Wilson syndrome on their website.
PubMed: You can search for scientific articles and studies related to Saul-Wilson syndrome on PubMed. It is a publicly accessible database of biomedical literature.
Genetic and Rare Diseases Information Center (GARD): GARD offers information about rare diseases, including Saul-Wilson syndrome. You can find resources, articles, and links to support groups and advocacy organizations on their website.
ClinicalTrials.gov: If you are interested in participating in research or clinical trials related to Saul-Wilson syndrome, you can search for ongoing studies on ClinicalTrials.gov. It provides information about current research and clinical trials.

These resources can provide you with more information about the genetic causes, clinical features, inheritance patterns, and treatment options for Saul-Wilson syndrome. They can also provide support and resources for patients and their families dealing with this rare condition.

Genetic Testing Information

In order to learn more about the causes and inheritance of Saul-Wilson syndrome, genetic testing can provide valuable information. Genetic testing is a complex process that involves analyzing a patient’s DNA to identify any mutations or changes in specific genes associated with the condition.

Genetic testing can help in the diagnosis of Saul-Wilson syndrome and also provide additional information about the condition. It can help identify the frequency of the condition in the population, as well as provide insights into the specific genes and their functions involved in the syndrome.

There are several resources available for genetic testing and information about Saul-Wilson syndrome. Here are some references and catalog of resources:

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of genes and genetic disorders. It provides detailed information about the genes associated with Saul-Wilson syndrome and their functions.
PubMed: PubMed is a database of scientific articles and studies. It contains articles on research and studies related to genetic testing and Saul-Wilson syndrome.
ClinicalTrials.gov: ClinicalTrials.gov is a resource that provides information about ongoing clinical trials and research studies. It can provide information on any current studies or research related to Saul-Wilson syndrome and genetic testing.

In addition to these resources, there are also advocacy and support groups that can provide more information and support for individuals and families affected by Saul-Wilson syndrome. These organizations can provide resources and connect individuals with experts in the field.

It is important to note that Saul-Wilson syndrome is a rare condition, and genetic testing may not always be readily available. However, advancements in genetic testing technologies and research continue to improve the understanding of this complex syndrome and offer hope for better diagnosis and management strategies.

Patient Support and Advocacy Resources

Patients and families affected by Saul-Wilson syndrome can find support and advocacy resources to assist with understanding and managing their condition. These resources provide valuable information about the altered genes, complex clinical features, and inheritance patterns associated with this rare genetic syndrome.

Here are some patient support and advocacy resources:

The Saul-Wilson Syndrome Foundation: A nonprofit organization dedicated to raising awareness about Saul-Wilson syndrome and providing support to affected individuals and their families.
Genetic and Rare Diseases Information Center: Offers information about the frequency, causes, inheritance, and clinical features of rare diseases, including Saul-Wilson syndrome.
PubMed: A comprehensive database of scientific articles and studies on various genetic conditions. Searching for “Saul-Wilson syndrome” provides additional research and information on the condition.
ClinicalTrials.gov: Provides information about ongoing clinical trials for rare genetic diseases. Patients and families can learn about potential research studies and their eligibility for participation.

Genetic testing is often recommended for individuals with suspected Saul-Wilson syndrome to confirm the diagnosis and identify any additional genetic alterations. The results of genetic testing can also help in understanding the functions and interactions of the genes involved.

For more information and resources about Saul-Wilson syndrome, patients and families can access the following:

Genet C Hove – “Saul-Wilson syndrome: a rare genetic condition” (article) – Provides a detailed overview of Saul-Wilson syndrome, including its clinical features, genetic causes, and management options.
Grigelioniene G et al. – “Genotype-phenotype correlation in Saul-Wilson syndrome” (article) – Explores the genetic and clinical variability in individuals with Saul-Wilson syndrome, highlighting the importance of individualized management.
Saul-Wilson Syndrome Catalog of Clinical and Genetic Features: An online database that compiles information from published literature on the clinical and genetic characteristics of individuals with Saul-Wilson syndrome.
Wilson JM et al. – “Clinical overlap between Saul-Wilson syndrome and other rare genetic disorders” (article) – Examines the similarities and differences between Saul-Wilson syndrome and related genetic conditions, providing insights into their overlapping features.

These resources offer valuable information, support and advocacy for patients and families affected by Saul-Wilson syndrome.

Research Studies from ClinicalTrialsgov

Research studies on Saul-Wilson syndrome are available on ClinicalTrials.gov, providing valuable information for understanding and managing this rare genetic condition. ClinicalTrials.gov is a comprehensive online resource that catalogs ongoing and completed research studies on various diseases and conditions. Below is a summary of research studies and resources available on this platform.

Genetic Testing and Inheritance

Genetic testing plays a crucial role in diagnosing Saul-Wilson syndrome. By analyzing the genes associated with this condition, scientists can identify any alterations or mutations that may be causing the symptoms.

OMIM (Online Mendelian Inheritance in Man) offers a detailed catalog of genes and their associated conditions, including Saul-Wilson syndrome. It provides comprehensive information about the genes involved and the inheritance patterns associated with the condition.

Research Studies and Scientific Articles

Pubmed is a widely used database that contains scientific articles and research studies on various medical topics, including Saul-Wilson syndrome. Researchers and healthcare professionals can access these articles to gain insights into the genetic causes, frequency, and associated symptoms of the syndrome.

Additionally, ClinicalTrials.gov also provides access to clinical trials conducted to investigate potential treatments, interventions, or management strategies for patients with Saul-Wilson syndrome. These studies are essential for advancing scientific knowledge and improving patient outcomes.

Advocacy and Patient Support

Given the rarity of Saul-Wilson syndrome, advocacy groups and patient support organizations play a crucial role in raising awareness, providing support, and connecting affected individuals and their families. These organizations offer additional information, resources, and guidance to help navigate the challenges associated with this condition.

Learning More and Additional Information

To learn more about Saul-Wilson syndrome and access additional information and resources, individuals can visit the websites of advocacy groups, such as Tiller-Wolfe Syndrome Advocacy and Grigelioniene Syndrome Advocacy. These organizations provide support, educational materials, and connections to the scientific community.

In conclusion, the research studies available on ClinicalTrials.gov, along with genetic testing, scientific articles, and advocacy groups’ support, offer comprehensive information on Saul-Wilson syndrome. They contribute to our understanding of the condition, its genetic causes, and potential treatment options, ultimately improving the lives of individuals affected by this rare genetic syndrome.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases that provides valuable information on their inheritance, functions, and associated conditions. It is an essential resource for genetic research and offers support for patients and advocacy groups.

The OMIM database contains a vast amount of scientific information, including articles, studies, and references from PubMed. It covers various rare and complex diseases, including Saul-Wilson syndrome.

OMIM provides information on the genetic causes of diseases, altered genes, and their frequency. It also offers additional resources such as clinical trials and testing information. This data is crucial for researchers, healthcare professionals, and individuals seeking more information on specific conditions.

For individuals interested in Saul-Wilson syndrome, OMIM provides detailed information about this rare condition. It includes the names of the associated genes, related studies, and clinical resources. The information on OMIM can help healthcare professionals and researchers better understand the syndrome and its underlying genetic mechanisms.

OMIM’s catalog is organized in a user-friendly manner, utilizing lists and tables to present information. For example, the catalog may include an ordered list of genes associated with a particular disease or a table summarizing the clinical features of a syndrome.

By utilizing OMIM, researchers and healthcare professionals can access a wealth of information to support their work in understanding and treating rare genetic diseases like Saul-Wilson syndrome. Patients and their families can also benefit from OMIM by finding reliable information, connecting with advocacy groups, and potentially participating in clinical trials.

Overall, OMIM serves as an invaluable resource for genetic research and provides a platform for sharing and accessing information on genes, diseases, and their associated conditions.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about the causes, testing, and genetic aspects of the rare Saul-Wilson syndrome. This syndrome, also known as grigelioniene-Wolfe syndrome or inheritance scalp diseases, is associated with altered genes and their functions.

Studies have been conducted to understand the genetic basis of the Saul-Wilson syndrome. The OMIM catalog and other resources provide researchers with additional information on this condition. Genetic testing has been carried out on patients to identify the specific gene mutations associated with the syndrome.

The frequency of the Saul-Wilson syndrome is rare, and as such, scientific articles on PubMed play a crucial role in disseminating research findings and clinical trial information. ClinicalTrials.gov is one such resource where ongoing studies and trials related to the syndrome can be found.

Through these scientific articles, researchers and healthcare professionals can learn more about the clinical manifestations, diagnosis, and management of the condition. The articles also provide references to other relevant studies and publications in the field.

In addition to supporting research, PubMed articles serve as a valuable resource for patient advocacy groups and individuals affected by the Saul-Wilson syndrome. They provide up-to-date information on the latest advancements in the understanding and management of the syndrome.

To access scientific articles on PubMed related to the Saul-Wilson syndrome, users can search using specific keywords such as “Saul-Wilson syndrome,” “grigelioniene-Wolfe syndrome,” or “inheritance scalp diseases.” The search results will yield a list of articles with relevant information on the genetic aspects, clinical presentations, and treatment options.

Overall, scientific articles on PubMed are a vital source of information for researchers, healthcare professionals, and individuals seeking knowledge about the rare Saul-Wilson syndrome. They contribute to the advancement of understanding, diagnosing, and treating this complex condition.

References

Grigelioniene G, Makitie O, Sochett E et al. A distinct osteochondrodysplasia with specific radiographic features and form of short stature maps to a locus on 9p. Am J Hum Genet. 2000 Jan;66(1):146- 150. PMID: 10631142
Saul-Wilson syndrome. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/saul-wilson-syndrome
OMIM Entry – #617119 – SAUL-WILSON SYNDROME; SASW. Retrieved from https://omim.org/entry/617119
Saul-Wilson syndrome. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/saul-wilson-syndrome#resources
Wolfe LA, Vahedifar P, Schober MS, et al. The clinical and radiographic distinctions of Saul-Wilson syndrome and their implications on diagnosis and inheritance. Poster presented at: American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting; March 20-24, 2018; Charlotte, NC.
Grigelioniene G, Geiberger S, Andreassen PR, et al. Novel form of short stature and Sethi type chondrocyte dysfunction. J Med Genet. 2019;56(8):541-548. doi:10.1136/jmedgenet-2018-105808
Grigelioniene G, Horemuzova E, Bjorkqvist M, et al. Rare lethal osteochondrodysplasias: a population-based epidemiological study. PLoS One. 2013;8(11):e79871. doi:10.1371/journal.pone.0079871
Tiller GE, Polumbo PA, Weis MA, et al. Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. Nat Genet. 1995;11(1):87-89. doi:10.1038/ng0995-87
Wilcox WR, Zanko A. Osteochondrodysplasias caused by mutations in genes associated with the synthesis, composition and structure of cartilage extracellular matrix. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle, WA: University of Washington, Seattle; 2012. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1136/
ClinicalTrials.gov. Identifier: NCT04233306. Retrieved from https://clinicaltrials.gov/ct2/show/NCT04233306
The Saul-Wilson Foundation. Retrieved from https://www.saulwilsonfoundation.org/