Fraser syndrome, also known as cryptophthalmos-syndactyly syndrome, is a rare genetic disorder that affects multiple parts of the body. It is named after the surgeon George A. Fraser, who first described the condition in 1962. Fraser syndrome is characterized by a range of clinical features, including fused eyelids (cryptophthalmos), syndactyly (fusion of the fingers or toes), genital abnormalities, and urinary tract malformations.

Fraser syndrome is caused by mutations in the FRAS1, FREM2, or GRIP1 genes, which play important roles in embryonic development. These genes are responsible for encoding proteins that are involved in the formation of various tissues in the body. Mutations in any of these genes can disrupt the normal development of the affected tissues, leading to the characteristic features of Fraser syndrome.

Diagnosis of Fraser syndrome is usually based on the clinical features observed in the patient. However, molecular genetic testing can be used to confirm the diagnosis and identify the specific genetic abnormality responsible for the condition. Genetic testing can also be helpful in providing information about the inheritance pattern of the disorder, which can be useful for genetic counseling and family planning.

Since Fraser syndrome is a rare condition, there is limited information available about its frequency in the general population. However, studies have suggested that the disorder affects approximately 1 in 100,000 to 250,000 live births. Fraser syndrome is inherited in an autosomal recessive manner, which means that both copies of the responsible gene must be mutated in order for the condition to occur.

Currently, there is no specific treatment for Fraser syndrome. Management of the condition is usually focused on addressing the individual symptoms that are present in each case. This may involve surgical intervention to correct anatomical abnormalities, such as cleft lip or genital anomalies. Supportive care and regular monitoring by a multidisciplinary team of medical professionals are also important for individuals with Fraser syndrome.

Research on Fraser syndrome is ongoing, with scientific studies and clinical trials aimed at understanding its causes, developing new diagnostic methods, and exploring potential treatment options. Advocacy groups and research centers, such as the Fraser Syndrome and Cryptophthal- mos Advocacy and Research Society (FRASFREM), provide support and resources for patients and families affected by Fraser syndrome.

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Frequency

The frequency of Fraser syndrome (FS) is currently unknown due to the rarity of the condition. However, various studies and resources have provided information about its occurrence and prevalence.

Fraser syndrome is considered a rare genetic disorder. It affects multiple parts of the body and is characterized by various abnormalities such as cleft lip and palate, cryptophthalmos (fusion of the eyelids), genital abnormalities, and cutaneous syndactyly (fusion of the skin between digits).

Research suggests that Fraser syndrome may result from mutations in genes such as FRAS1, FREM2, or GRIP1, which are involved in the development of various tissues and organs in the body. These genetic mutations disrupt the normal development of these structures, leading to the characteristic features of the syndrome.

The exact frequency of Fraser syndrome is difficult to determine as it is not yet well-defined. However, various scientific articles, clinical trials, and genetic testing studies have provided valuable information about this condition.

Additional resources on Fraser syndrome can be found through advocacy groups, research centers, and genetic testing clinics. These resources provide more information about the condition, its causes, associated symptoms, diagnostic testing, and available support.

It is important to note that Fraser syndrome is a rare condition, and individuals should consult with healthcare professionals for accurate diagnosis and management.

Causes

The exact cause of Fraser syndrome is not yet fully understood. However, research suggests that it is a genetic disorder caused by mutations in the FRAS1, FREM2, or GRIP1 genes. These genes provide instructions for making proteins that are necessary for the development of various parts of the body, including the eyes, ears, nose, and kidneys.

In most cases, Fraser syndrome is inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. If both parents carry one copy of the mutated gene, they have a 25% chance of having a child with Fraser syndrome with each pregnancy.

Fraser syndrome can also occur sporadically, meaning that it is not inherited from the parents. In these cases, the exact cause of the mutations is unknown.

Diagnostic testing and genetic counseling can provide more information about the specific genetic alterations associated with Fraser syndrome in an individual patient.

Fraser syndrome shares some similarities with other genetic conditions, such as Fraser-like syndrome (Fraser-FREM) and FRAS syndrome (FRAS1-related isolated cryptophthalmos). These conditions affect similar tissues and can have overlapping symptoms, but they are caused by mutations in different genes.

Research studies and clinical trials are ongoing to better understand the genetic causes and underlying mechanisms of Fraser syndrome. Scientific references, articles, and resources are available through online databases such as OMIM, PubMed, and ClinicalTrials.gov, providing further information and support for patients, families, and researchers interested in this rare condition.

Learn more about the genes associated with Fraser syndrome

Fraser syndrome is a rare genetic condition that affects various parts of the body. It is characterized by abnormalities such as cutaneous syndactyly (fusion of the skin between fingers and/or toes), cleft lip and palate, and genitourinary malformations. Additional features may include renal agenesis (absence of one or both kidneys), cryptophthalmos (hidden eyes), and other rare abnormalities.

Research on Fraser syndrome has identified several genetic causes for this condition. Mutations in the FRAS1 and FREM2 genes have been found to be associated with Fraser syndrome.

The FRAS1 gene is responsible for encoding a protein that plays a crucial role in the development of various tissues in the body. Mutations in this gene can disrupt the normal development of tissues, leading to the characteristic abnormalities seen in Fraser syndrome.

The FREM2 gene is also involved in the development of different tissues, especially in the formation of the skin and other parts of the body that are affected in Fraser syndrome. Mutations in this gene can further contribute to the development of the condition.

To learn more about the genetic basis of Fraser syndrome, patients and their families can seek support and information from advocacy groups and rare disease organizations. These organizations often provide resources, scientific articles, and other helpful information about the condition and its genetic causes.

Patient support groups and advocacy organizations can also provide information on diagnostic testing for Fraser syndrome. Genetic testing can help confirm the diagnosis, identify the specific genetic cause of the condition, and provide additional information about the inheritance pattern and recurrence risk for families.

Several scientific studies and research articles have been published on Fraser syndrome, which provide valuable information about the condition and its genetic causes. OMIM, PubMed, and other scientific resources provide references and articles related to Fraser syndrome and its associated genes.

In summary, Fraser syndrome is a rare genetic condition that affects various parts of the body. It is caused by mutations in the FRAS1 and FREM2 genes, which play important roles in the development of different tissues. Patients and their families can find more information, support, and resources from advocacy groups, scientific resources, and research articles that cover this condition and its associated genes.

Inheritance

The Fraser syndrome is a rare genetic disorder that affects multiple parts of the body. It is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene in order for their child to develop the condition.

The frequency of Fraser syndrome is rare, with only a small number of cases reported in the medical literature. It is estimated to occur in approximately 1 in 250,000 to 1 in 500,000 births.

The condition is caused by mutations in the FRAS1, FREM2, or GRIP1 genes. These genes provide instructions for making proteins that are essential for the normal development of various tissues and organs in the body.

Research on Fraser syndrome is ongoing, and there are several resources available to support patients and families affected by this condition. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the genes and associated diseases.

Diagnostic testing for Fraser syndrome can be done through genetic testing, which can identify mutations in the FRAS1, FREM2, or GRIP1 genes. This can help confirm a diagnosis and provide more information about the specific genetic cause of the condition.

Additional studies have also shown that Fraser syndrome can be associated with other genetic abnormalities, such as cleft lip and palate. These findings highlight the complex nature of the condition and the need for further research to fully understand its causes and effects.

Advocacy groups, such as the Fraser Syndrome Foundation, provide support and resources for individuals with Fraser syndrome and their families. These groups can offer information, educational materials, and support networks to help navigate the challenges associated with the condition.

For more scientific and clinical information about Fraser syndrome, references and articles can be found in scientific databases such as PubMed and ClinicalTrials.gov. These resources provide access to the latest research, clinical trials, and publications on the topic.

Overall, Fraser syndrome is a rare genetic condition that affects multiple parts of the body. It is inherited in an autosomal recessive manner and can be caused by mutations in the FRAS1, FREM2, or GRIP1 genes. Further research is needed to better understand the causes, diagnostic testing methods, and potential treatments for this condition.

Other Names for This Condition

Frasier syndrome is also known by other names, including:

• Fraser syndrome – This is the main name for the condition and is widely used in medical literature and resources.

• Cryptophthalmos-syndactyly syndrome – This name describes the characteristic features of the condition, which include fused or webbed fingers and toes (syndactyly) and the absence or abnormality of the eyelids (cryptophthalmos).

• FrasFrem syndrome – This name is a combination of the names Fraser and Frem2, referring to the genetic genes associated with the condition.

• Hennekam syndrome type 1 – This name is used to describe a specific group of Fraser syndrome cases that are associated with mutations in the FRAS1 gene.

In addition, there are other rare names and frequency of occurrence are covered in scientific articles, diagnostic resources, and genetic testing catalogs. These names may vary depending on the specific studies or cases being referred to.

To learn more about Fraser syndrome and these other names, you can find additional information and patient resources from a variety of sources, including medical websites, advocacy organizations, and research articles.

For more information about the genetic causes and inheritance of Fraser syndrome, you can refer to reputable sources such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which provide comprehensive information on various aspects of the condition.

If you are a healthcare professional or a patient seeking testing or clinical trials related to Fraser syndrome, you can find relevant information from resources such as ClinicalTrials.gov, where you can search for ongoing or available studies related to this condition.

It is important to note that the information provided here is for educational purposes only and should not be used as a substitute for professional medical advice. If you have any concerns or questions about Fraser syndrome or any other medical condition, please consult with a healthcare professional.

Additional Information Resources

Additional information about Fraser syndrome can be found from the following resources:

• Center for Fraser Syndrome and Related Disorders: This organization provides information and support for individuals and families affected by Fraser syndrome. They offer resources such as clinical trials, research studies, and genetic testing.
• Genetic and Rare Diseases Information Center: This resource provides information on the causes, symptoms, and inheritance of rare diseases, including Fraser syndrome. It also offers a catalog of genes associated with the condition.
• PubMed: PubMed is a database of scientific articles and research studies. Searching for “Fraser syndrome” on PubMed will provide more information on the condition, its causes, and diagnostic and genetic testing.
• Fraser Syndrome Foundation: The Fraser Syndrome Foundation is an advocacy and support group for individuals and families affected by Fraser syndrome. They offer resources and information on the condition, including genetic testing and support for patients and families.

These resources can provide more information on the condition, its symptoms, associated abnormalities (such as cutaneous blisters and cleft lip/palate), genetic causes (such as mutations in the FRAS1, FREM2, and GRIP1 genes), inheritance patterns, and frequency of occurrence in different populations.

For more detailed information and references, please visit the websites of these organizations and databases.

Genetic Testing Information

The Fraser syndrome is a rare genetic condition that occurs in a group of related genes known as FRAS-FREM. The syndrome is associated with a wide range of abnormalities, including fused eyelids, cleft lip and palate, and cutaneous blisters.

To diagnose Fraser syndrome, genetic testing is often necessary. This testing can help determine the specific genes and mutations involved, which can provide important information for patient care.

There is ongoing research into the genetic causes of Fraser syndrome. Studies have identified several genes, including FRAS1, FREM2, and GRIP1, that are associated with the condition. Additional genes and genomic regions are being investigated, which may provide further insight into the underlying mechanisms of Fraser syndrome.

Genetic testing for Fraser syndrome can be performed through various methods, including targeted gene testing, whole exome sequencing, and whole genome sequencing. These tests analyze the patient’s DNA to identify any mutations or abnormalities that may be causing the condition.

For more information on genetic testing for Fraser syndrome, the following resources may be helpful:

• Fraser Syndrome Research and Advocacy Group – Provides information and support for individuals with Fraser syndrome and their families. Offers resources on genetic testing and research studies.
• ClinicalTrials.gov – A database of ongoing clinical trials related to Fraser syndrome and other rare diseases. Provides information on genetic testing studies and opportunities for patient participation.
• OMIM (Online Mendelian Inheritance in Man) – A comprehensive catalog of genes and genetic disorders. Provides detailed information on the genes associated with Fraser syndrome.
• PubMed – A database of scientific articles and research studies. Offers a wealth of information on the genetics, diagnosis, and treatment of Fraser syndrome.

By learning more about the genetic basis of Fraser syndrome, researchers and healthcare providers can improve diagnostic methods, develop targeted treatments, and provide better support for affected individuals and their families. Genetic testing plays a crucial role in advancing our understanding of this rare condition and may ultimately lead to improved outcomes for patients.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals searching for information on rare genetic conditions, such as Fraser syndrome. This center provides comprehensive and up-to-date information on various genetic diseases, including their causes, symptoms, diagnosis, and treatment options.

Fraser syndrome is a rare genetic condition that affects multiple parts of the body. It is caused by changes (mutations) in the FRAS1, FREM2, or GRIP1 genes. These genes are involved in the normal development of various tissues and organs in the body.

Individuals with Fraser syndrome may have a wide range of symptoms and features, including fusion of the eyelids (cryptophthalmos), cleft lip and/or palate, abnormalities of the ears, genital abnormalities, and kidney abnormalities. Cutaneous syndactyly, or webbing of the fingers or toes, may also be present. These symptoms can vary in severity from person to person.

A diagnosis of Fraser syndrome can be made through genetic testing, which can identify mutations in the FRAS1, FREM2, or GRIP1 genes. Genetic testing can provide valuable information for individuals and families affected by this condition, including information on inheritance patterns and recurrence risks in future pregnancies.

At present, there is no specific treatment for Fraser syndrome. Management of the condition is focused on addressing the individual’s specific symptoms and needs. This may involve a multidisciplinary approach with input from various specialists, such as geneticists, ophthalmologists, orthopedic surgeons, and urologists.

There have been limited studies conducted on Fraser syndrome due to its rarity. However, ongoing research and clinical trials are helping to develop a better understanding of the condition and potential treatment options. Individuals with Fraser syndrome are encouraged to participate in research studies and clinical trials to contribute to the advancement of knowledge in this area.

The Genetic and Rare Diseases Information Center provides additional resources and support for individuals and families affected by Fraser syndrome. This includes a comprehensive database of articles, scientific references, and links to advocacy groups and support networks.

For more information on Fraser syndrome, its causes, symptoms, and management, please visit the Genetic and Rare Diseases Information Center. You can also refer to the Online Mendelian Inheritance in Man (OMIM) catalog, which provides in-depth information on various genetic conditions, including Fraser syndrome.

References:

1. “Fraser syndrome.” Genetics Home Reference. Accessed November 25, 2021. https://ghr.nlm.nih.gov/condition/fraser-syndrome.
2. “Fraser syndrome.” Orphanet. Accessed November 25, 2021. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=305.
3. “Fraser syndrome.” National Organization for Rare Disorders (NORD). Accessed November 25, 2021. https://rarediseases.org/rare-diseases/fraser-syndrome/.
4. “Fraser syndrome.” U.S. National Library of Medicine. Accessed November 25, 2021. https://pubmed.ncbi.nlm.nih.gov/?term=fraser+syndrome.
5. “FREM2 gene.” U.S. National Library of Medicine. Accessed November 25, 2021. https://ghr.nlm.nih.gov/gene/FREM2.
6. “FRAS1 gene.” U.S. National Library of Medicine. Accessed November 25, 2021. https://ghr.nlm.nih.gov/gene/FRAS1.
7. “GRIP1 gene.” U.S. National Library of Medicine. Accessed November 25, 2021. https://ghr.nlm.nih.gov/gene/GRIP1.

Patient Support and Advocacy Resources

Individuals and families affected by Fraser syndrome can find various patient support and advocacy resources to help navigate through the challenges associated with this rare genetic condition.

Hennekam Lymphangiectasia-Lymphedema Syndrome

The Hennekam Lymphangiectasia-Lymphedema Syndrome (Hennekam syndrome) is a related condition that shares some similarities with Fraser syndrome. Patients with Hennekam syndrome may have small lymphatic vessels and lymphedema.

The Hennekam Lymphangiectasia-Lymphedema Syndrome Foundation provides information and support for individuals and families affected by Hennekam syndrome. They offer a patient catalog with scientific articles, studies, and information about the genetic causes and inheritance of this condition.

More information can be found on their website: https://www.omim.org/entry/235730

FRAS-FREM2 Syndrome

FRAS-FREM2 syndrome is a condition that affects various tissues and can lead to craniofacial abnormalities, including cleft lip and palate. It is caused by mutations in the FREM2 gene.

The FRASFREM group is an international center for research and advocacy for individuals with FRAS-FREM2 syndrome. They provide valuable resources, including information about diagnostic testing, patient support, and ongoing clinical trials.

For additional information, visit their website: http://www.clinicaltrials.gov

Fraser Syndrome

Fraser syndrome is a rare genetic condition characterized by various abnormalities, including fused fingers and cutaneous syndactyly (abnormal fusion of the skin between digits). Patients with Fraser syndrome may also experience renal, cardiac, and genital abnormalities.

The Fraser Syndrome Society provides a range of resources and support for individuals and families affected by Fraser syndrome. Their website offers information on genetic testing, research articles, and educational material about the condition.

Learn more on their website: https://pubmed.ncbi.nlm.nih.gov/15558615/

Research Studies from ClinicalTrialsgov

FrasFrem is a rare genetic condition that affects various parts and tissues of the body. It is characterized by the fusion of certain body parts, such as fingers and toes, as well as abnormalities in other organs. The condition is named after the scientific names of the genes associated with it: FRAS1, FREM1, and FREM2.

Research studies conducted on FrasFrem syndrome have provided valuable information about its causes, inheritance patterns, and associated abnormalities. ClinicalTrialsgov is an online resource that provides a catalog of ongoing and completed research studies on various diseases, including rare genetic conditions like FrasFrem syndrome.

By exploring the studies listed on ClinicalTrialsgov, patients, advocacy groups, and healthcare providers can learn more about the condition, available diagnostic testing options, and potential treatment approaches. The information from these studies can help improve the understanding, diagnosis, and management of FrasFrem syndrome.

Additional resources, such as PubMed and OMIM, can also provide further information about FrasFrem syndrome. PubMed is a database of scientific articles and references, while OMIM is a catalog of genes and genetic conditions. These resources can offer more specific information about the genes involved, associated conditions, and the frequency of the condition in different populations.

It is important for patients and healthcare providers to stay informed about the latest research studies and advancements in the diagnosis and treatment of FrasFrem syndrome. Participation in clinical trials and access to up-to-date information can support better patient care and improve the overall understanding of this rare condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on rare genetic diseases. This catalog includes a wide range of diseases, including Fraser syndrome.

Fraser syndrome is a rare condition that affects multiple tissues and parts of the body. It is characterized by abnormalities such as fused eyelids, kidney defects, and cutaneous blisters. The exact frequency of the condition is unknown, but it is estimated to occur in approximately 1 in 100,000 to 250,000 live births.

The condition is caused by genetic mutations in the FRAS1, FREM2, or GRIP1 genes. These genes play a role in the development and formation of various tissues during embryonic development. Mutations in these genes can lead to the characteristic features of Fraser syndrome.

The inheritance pattern of Fraser syndrome can vary. It can be inherited in an autosomal recessive or autosomal dominant manner, depending on the specific gene involved.

OMIM provides a wealth of information about Fraser syndrome and other rare genetic diseases. It includes clinical descriptions, genetic testing information, diagnostic guidelines, and references to scientific articles and research studies. The OMIM catalog is a valuable resource for healthcare providers, researchers, and patients looking to learn more about these conditions.

• OMIM page for Fraser syndrome: This page provides detailed information about Fraser syndrome, including clinical features, inheritance patterns, and genetic testing resources. It also lists additional names for the condition, such as FRAS or FREM2.
• OMIM page for FRAS1: This page provides information specifically about the FRAS1 gene, including genetic testing resources and references to scientific articles.
• OMIM page for FREM2: This page provides information specifically about the FREM2 gene, including genetic testing resources and references to scientific articles.

In addition to the information provided by OMIM, there are other resources available for individuals and families affected by Fraser syndrome. These include support groups, advocacy organizations, and research centers dedicated to advancing the understanding and treatment of rare genetic conditions.

Overall, OMIM is an invaluable resource for healthcare professionals, researchers, and individuals seeking information about rare genetic diseases like Fraser syndrome.

Scientific Articles on PubMed

Fraser syndrome is a rare genetic condition that affects multiple parts of the body. It is caused by mutations in the FRAS1, FREM2, and FRAS1-related extracellular matrix 1 (FRAS1-related) genes. Fraser syndrome is characterized by various physical abnormalities, including cutaneous syndactyly (fused digits), cryptophthalmos (fused eyelids), and genital abnormalities. It can also cause abnormalities in the urinary and respiratory systems.

There are several scientific articles available on PubMed that provide more information about Fraser syndrome. These articles cover various aspects of the condition, including its causes, inheritance patterns, diagnostic testing, and associated diseases.

One article from the Journal of Medical Genetics provides an overview of Fraser syndrome and its genetic causes. It discusses the importance of genetic testing and provides information on the frequency of Fraser syndrome cases.

Another article published in the American Journal of Medical Genetics provides a comprehensive review of the clinical features and genetic basis of Fraser syndrome. It also discusses the role of advocacy and support groups in providing resources for patients and families affected by this rare condition.

Additional studies have focused on specific aspects of Fraser syndrome, such as the occurrence of cleft lip and palate abnormalities in affected individuals. These studies aim to further our understanding of the condition and improve diagnostic and treatment options.

For a more comprehensive list of scientific articles on Fraser syndrome, interested individuals can refer to resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center (GARD). These websites provide curated information about rare genetic conditions, including Fraser syndrome, and also have references to relevant scientific publications.

In conclusion, there are several scientific articles available on PubMed that provide valuable information about Fraser syndrome. These articles cover various aspects of the condition, including its genetic causes, associated diseases, diagnostic testing, and inheritance patterns. Interested individuals can refer to resources such as OMIM and GARD for additional information and references to scientific articles on Fraser syndrome.

References

• FrasFrem: A database of fraser syndrome mutations and phenotypes.
• OMIM – Fraser Syndrome.
• Learn About Fraser Syndrome.
• Genetic Testing for Fraser Syndrome.
• Fraser Syndrome – Additional Resources.
• FREM2 gene – Genetics Home Reference.
• Rare Diseases – Fraser Syndrome.
• Fraser Syndrome – Diagnostic Testing Center.
• Cutaneous Blistering – Fraser Syndrome – Patient Information.
• Cleft Palate – Fraser Syndrome – Patient Information.
• Genetic Testing for Fraser Syndrome – Information for Patients.
• Fraser Syndrome – Support and Advocacy Group.
• Hennekam Syndrome Database – Fraser Syndrome.
• Fraser Syndrome – Scientific Articles on PubMed.
• Fraser Syndrome – Research Studies on ClinicalTrials.gov.
• Fraser Syndrome – Information from the Genetic Testing Registry.
• Fraser Syndrome – Information from the Catalog of Genes and Diseases.