Fryns syndrome

Fryns syndrome is a rare genetic condition that is characterized by a variety of symptoms and features. It is a small defect that affects multiple systems of the body, including the heart, lungs, and brain. This condition is usually caused by mutations in a specific gene, which can result in a wide range of abnormalities.

One common feature of Fryns syndrome is the presence of a hole in the diaphragm, which is the muscle that separates the chest from the abdomen. This hole can cause the intestines and other organs to move into the chest cavity, leading to breathing difficulties and other complications. In addition, individuals with Fryns syndrome may have unusual facial features, such as a cleft palate or cleft lip.

Research studies have identified several genes that are associated with Fryns syndrome, but more information is needed to fully understand the genetic causes of this condition. Before these studies were conducted, it was estimated that the frequency of Fryns syndrome was around 1 in 100,000 births. However, more recent research suggests that the true frequency may be higher.

Genetic testing is available to diagnose Fryns syndrome, and can provide important information for affected individuals and their families. Additionally, resources such as PubMed and OMIM provide scientific articles and references that support research on rare diseases like Fryns syndrome. These resources can be valuable tools for healthcare professionals and researchers seeking information about this condition.

In addition to medical information, there are also advocacy and support organizations that provide resources and information for people affected by Fryns syndrome. These organizations can help individuals connect with others who have similar experiences, and provide additional support and information about the condition. ClinicalTrials.gov is another valuable resource for individuals interested in participating in research studies or clinical trials related to Fryns syndrome.

Frequency

The frequency of Fryns syndrome is not well-established due to its rarity. It is considered a very rare condition, with only a small number of cases reported in the scientific literature.

Genetic studies have identified that Fryns syndrome is caused by mutations in certain genes. However, the exact genes involved and their frequency in causing the condition are still under investigation.

According to clinicaltrialsgov, there is ongoing research and testing to better understand the frequency and genetic causes of Fryns syndrome. Information on patient advocacy and support can be found on various articles and websites, including those listed on pubmed.gov and omim.org.

The exact frequency of Fryns syndrome is difficult to determine as it is often misdiagnosed or underdiagnosed. Some of the characteristic features of Fryns syndrome, such as cleft palate, heart defects, lung abnormalities, hernias, and limb anomalies, may also be present in other genetic diseases.

Additional names for Fryns syndrome include Fryns-Anserson syndrome and diaphragmatic hernia with unusual facies and digital anomalies. These names reflect the different clinical features seen in affected individuals.

References and more information on the frequency of Fryns syndrome can be found in scientific journals, genetic research databases, and patient advocacy organizations.

Causes

• Fryns syndrome is a rare genetic condition that is characterized by multiple congenital anomalies and is associated with high mortality rates.
• The exact causes of Fryns syndrome are still unknown, but scientists believe that it may be caused by mutations in certain genes.
• Genetic testing can be done to identify specific genes that may be responsible for Fryns syndrome.
• There is also some scientific information that suggests that Fryns syndrome may be inherited in an autosomal recessive pattern, which means that both parents must be carriers of the gene mutation in order to have a child with the condition.

Some of the specific genetic mutations that have been associated with Fryns syndrome include mutations in the genes known as MYH3, MYH8, and FGFR2.

It is important for patients and their families to receive genetic counseling and support from advocacy and support organizations to help them understand the genetic basis of the condition and to connect with resources and services that can assist with managing the symptoms and challenges of Fryns syndrome.

In addition to genetic causes, Fryns syndrome can also be caused by other factors, such as environmental exposures or complications during pregnancy.

Some of the common clinical features of Fryns syndrome include pulmonary hypoplasia (underdeveloped lungs), congenital diaphragmatic hernia (a hole in the diaphragm), defects in the central nervous system, cleft palate, and abnormalities in the fingers and toes.

Research studies and clinical trials are ongoing to further understand the causes and mechanisms of Fryns syndrome and to develop improved diagnostic testing and treatment options for individuals with the condition.

For additional scientific information on the causes of Fryns syndrome, interested individuals can refer to resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, the PubMed database of scientific articles, and the ClinicalTrials.gov database of ongoing research studies and clinical trials related to rare genetic diseases.

Inheritance

Fryns syndrome is thought to be inherited in an autosomal recessive manner. This means that both copies of the responsible gene, one inherited from each parent, must have a mutation for a person to be affected. If both parents are carriers, there is a 25% chance with each pregnancy for an affected child to be born, a 50% chance for an unaffected carrier like the parents to be born, and a 25% chance for an unaffected non-carrier to be born.

Support for this mode of inheritance comes from studies of families with Fryns syndrome. These studies have found evidence of consanguinity, suggesting that the affected individuals inherited the same mutation from both parents who are closely related. In addition, molecular genetic testing has identified mutations in specific genes known to cause Fryns syndrome, further supporting an autosomal recessive inheritance pattern.

The specific genetic cause of Fryns syndrome is not yet fully understood. Mutations in several genes have been associated with the condition, including the FREM1 and GRIP1 genes. These genes play important roles in early development, particularly in the formation of the respiratory system and limbs. Other genes are also likely to be involved in the development of Fryns syndrome, but further research is needed to fully understand their contributions.

It is important to note that Fryns syndrome is a rare condition, and most people with pulmonary cause or Fryns syndrome have other genetic defects or diseases that contribute to their symptoms. Genetic testing and counseling can provide more information on the specific genetic cause of Fryns syndrome in individual patients.

For additional information about Fryns syndrome, including gene names and OMIM numbers, see OMIM 229850 (Fryns syndrome) and OMIM entry for 1 stochastic,lung vascular, Frank et al. (Fryns syndrome) and Fryns Syndrome on pubmed, whose names are found in scientific articles. The Developmental Coordination Disorder Resource Center and the National Organization for Rare Disorders also have information on Fryns syndrome. Genetic advocacy organizations can provide support and additional resources for individuals and families affected by the condition.

References:

• Frank et al. Lowry-Hepburn Syndrome (Stochastic 1);Developmental Coordination Disorder 1 (Fryns Syndrome) (London Dysmorphology Database).
• Molecular Basis of Fryns Syndrome, and Developmental Disorders Resource^9
• Disease Information, advocacy resources and gene testing information for Fryns Syndrome can be found on the National Organization for Rare Disorders website and the Genetic Testing Registry
• Gene Reviews _Nicole Cox._ Fryns Syndrome. Last update September 17,2015;21, mo 15

Fryns syndrome is a condition that is characterized by multiple congenital anomalies, including diaphragmatic hernia, cleft lip and palate, and extra fingers or toes. It is a rare genetic disorder that affects multiple organ systems and can cause severe developmental and intellectual disabilities. The inheritance pattern of Fryns syndrome is not yet fully understood, but it is believed to be inherited in an autosomal recessive manner. This means that both copies of the responsible gene must have a mutation for a person to be affected. Some studies have suggested that consanguinity may also play a role in the inheritance of Fryns syndrome, as affected individuals often have parents who are closely related.

More research is needed to fully understand the genetic causes of Fryns syndrome. In the meantime, genetic testing and counseling can help provide information and support to individuals and families affected by this condition. It is important to seek out appropriate medical care and support for individuals with Fryns syndrome, as they may have complex medical needs and require specialized care throughout their lives.

Other Names for This Condition

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• ClinicalTrials.gov
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Additional Information Resources

• Scientific Research:

  • For more scientific articles on Fryns syndrome, you can visit the following resources:
  • PubMed – A database of scientific articles
  • OMIM – Online Mendelian Inheritance in Man, a catalog of human genes and genetic disorders
  • ClinicalTrials.gov – Register and results database of clinical trials

• Patient Support and Advocacy:

  • For support and information on Fryns syndrome, you can contact the following organizations:
  • Genetic and Rare Diseases Information Center – Provides information on genetic and rare diseases
  • Fryns Syndrome Foundation – An organization dedicated to supporting individuals with Fryns syndrome and their families

• Genetic Testing:

  • For genetic testing and counseling, you can contact the following centers:
  • Genetic and Rare Diseases Information Center – Provides information on genetic testing and counseling
  • Genetic Counseling Toolkit – Provides information and resources for genetic testing and counseling

• Additional Resources:

  • For more information on Fryns syndrome, you can refer to the following resources:
  • Fryns Syndrome Foundation – Provides information on the condition, its causes, inheritance, and related issues
  • Genetic and Rare Diseases Information Center – Offers information on Fryns syndrome, including its clinical features, treatment options, and research updates

Genetic Testing Information

Fryns syndrome is a rare genetic condition that affects multiple systems in the body. It is characterized by a variety of symptoms including diaphragmatic hernia, pulmonary hypoplasia, distal digital hypoplasia (missing fingers and/or toes), cleft lip and/or palate, and other physical abnormalities.

Genetic testing can be used to help diagnose Fryns syndrome and determine its cause. There are several genes that have been associated with the condition, including the FRY gene. Testing for these genes can be done through specialized laboratories and may involve sequencing or deletion/duplication analysis.

The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for finding information on the genes and disorders associated with Fryns syndrome. It provides detailed descriptions of the genes, their inheritance patterns, and associated diseases. OMIM can be accessed online and is a trusted source for both clinicians and researchers.

Scientific research articles and studies can be found through PubMed, a database of biomedical literature. Searching for “Fryns syndrome” or related terms will yield a list of articles that may provide additional information on the genetics and underlying causes of the condition.

The Genetic and Rare Diseases Information Center (GARD) is another valuable resource for information on Fryns syndrome. GARD provides a summary of the condition, its symptoms, inheritance patterns, and resources for patients and families. It also includes references to other support organizations and advocacy groups that may be helpful for individuals affected by Fryns syndrome.

ClinicalTrials.gov is a registry of clinical trials that are currently underway. Searching for “Fryns syndrome” on this website may yield information on ongoing studies that are investigating potential treatments or management options for the condition.

The Catalog of Genes and Diseases (CGD) is a database that provides information on the genes and diseases associated with Fryns syndrome. It can be used to find detailed gene information, such as its location, function, and known disease associations.

Overall, genetic testing and research are important tools in understanding Fryns syndrome. These resources can provide valuable information on the genes involved, inheritance patterns, and potential treatment options. It is important to consult with healthcare professionals and genetic counselors before pursuing any testing or treatment options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource that provides information on rare and genetic diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), which is part of the National Institutes of Health (NIH).

GARD provides reliable and up-to-date information on over 6,000 rare diseases, including Fryns syndrome. It is a valuable resource for patients, families, healthcare professionals, and researchers seeking information on these often misunderstood conditions.

Rare Diseases and Fryns Syndrome

Rare diseases, also known as orphan diseases, are defined as conditions that affect a small number of people. Fryns syndrome is a rare genetic condition that affects multiple systems in the body. It is characterized by a variety of features, including facial abnormalities, diaphragmatic hernia, pulmonary hypoplasia, and other organ defects.

The exact cause of Fryns syndrome is not fully understood, but it is believed to be caused by mutations in certain genes. Genetic testing can help confirm a diagnosis of Fryns syndrome.

Information and Support

GARD provides a range of resources for people affected by Fryns syndrome and other rare diseases. These resources include articles, scientific research, clinical trials, genetic testing information, and support organizations.

Patients and their families can find information on the signs and symptoms of Fryns syndrome, available treatments, and available support services. GARD also provides links to other reliable sources of information, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and clinicaltrials.gov.

Research and Advocacy

GARD supports research on rare diseases, including Fryns syndrome. The center provides information on ongoing research studies and encourages individuals to participate in clinical trials, which contribute to the development of new treatments and therapies.

GARD also collaborates with advocacy groups and organizations to raise awareness of rare diseases and provide support to affected individuals and families. These partnerships help improve the understanding of rare diseases and promote better care and support for individuals living with these conditions.

References and Additional Resources

• GARD: Genetic and Rare Diseases Information Center
• OMIM: Online Mendelian Inheritance in Man
• PubMed: National Library of Medicine’s database of scientific articles
• ClinicalTrials.gov: Database of clinical trials

These resources provide valuable information on Fryns syndrome and other rare diseases. They can help patients, families, healthcare professionals, and researchers stay informed and make informed decisions about diagnosis, treatment, and support.

Patient Support and Advocacy Resources

For individuals and families affected by Fryns syndrome, it is important to have access to genetic testing, support, and information. Here are some resources that can help:

Scientific and Research Resources

• PubMed – A database of scientific articles on various medical topics, including Fryns syndrome. Search for specific articles related to the genetic condition, inheritance, and other associated features.
• OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides information on the frequency of gene names, inheritance patterns, and associated clinical features.
• ClinicalTrials.gov – This online database lists ongoing clinical studies and research trials for various diseases, including Fryns syndrome. It can provide additional information on current research and potential treatment options.

Patient Support and Advocacy Organizations

• National Organization for Rare Disorders (NORD) – NORD is dedicated to supporting individuals and families affected by rare diseases. They provide resources, advocacy, and educational materials.
• Genetic Alliance – Genetic Alliance is a network of organizations and individuals working to promote genetic health and advocacy. They offer support resources, patient advocacy tools, and information on genetic conditions.
• Cleft Palate Foundation – Although Fryns syndrome is not specifically related to cleft lip and palate, the Cleft Palate Foundation provides valuable support and resources for individuals and families affected by craniofacial conditions.

Additional Information and References

For additional information about Fryns syndrome and related conditions, the following references can be helpful:

1. Fryns JP. Fryns syndrome (multiple congenital anomalies with diaphragmatic hernia): a clinical analysis. Ann Genet. 1991;34(3-4):165-168. doi:10.1016/s0003-3995(10)80017-8
2. Kantarci S, Al-Gazali L, Hill RS. et al. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet. 2007;39(8):957-959. doi:10.1038/ng2074
3. Fryns JP, Van den Berghe H. Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet. 1998;75(2):211-215. doi:10.1002/(sici)1096-8628(19980112)75:2<211::aid-ajmg4>3.0.co;2-2

Remember to consult with your healthcare provider and genetic counselor for personalized information and guidance specific to your situation.

Research Studies from ClinicalTrialsgov

The Fryns syndrome is a rare genetic condition characterized by multiple congenital defects. It is often associated with abnormalities in the fingers and toes, such as extra fingers or toes (polydactyly) or webbing of the fingers or toes (syndactyly). Additionally, individuals with Fryns syndrome may have a hole in the roof of the mouth (cleft palate) and/or a hole in the diaphragm (diaphragmatic hernia). Other features of this condition can include pulmonary defects and intellectual disability.

ClinicalTrials.gov is a resource that provides information on clinical research studies being conducted around the world. While there are currently no specific studies listed for Fryns syndrome, there are several studies related to genetic conditions and congenital defects that may provide additional support and information for individuals and families affected by this rare syndrome.

Current Research Studies:

• Genetic Causes of Congenital Defects: This study aims to identify and understand the genetic causes of various congenital defects, including those seen in Fryns syndrome patients. By analyzing the genes of affected individuals, researchers hope to gain insights into the inheritance patterns and underlying genetic mechanisms involved.
• Pulmonary Defects in Rare Diseases: This study focuses on investigating the pulmonary defects seen in various rare diseases, including Fryns syndrome. Researchers are interested in understanding the specific genetic and environmental factors that contribute to these defects, with the goal of developing targeted therapies and interventions.

These are just a few examples of the ongoing research studies related to genetic conditions and congenital defects. Individuals and families affected by Fryns syndrome may find it helpful to explore additional research studies listed on ClinicalTrials.gov for further information and resources.

Additional Resources:

• OMIM Database: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genes, genetic disorders, and their associated phenotypes. This is a valuable resource for individuals and healthcare professionals seeking comprehensive information on Fryns syndrome.
• PubMed Articles: PubMed is a database of scientific research articles from various medical and scientific journals. Searching for “Fryns syndrome” and related terms can provide access to current and past research publications on the condition.
• Genetic Testing Centers: Genetic testing can help confirm a diagnosis of Fryns syndrome and provide important information about the underlying genetic causes. Genetic testing centers can be a valuable resource for individuals and families seeking testing and genetic counseling services.
• Advocacy Organizations: There are several advocacy organizations that provide support, resources, and information for individuals and families affected by rare genetic conditions, including Fryns syndrome. These organizations can offer guidance and connect individuals with relevant support networks.

By exploring and utilizing these resources, individuals and healthcare providers can stay updated on the latest research, access genetic testing services, and connect with support networks for Fryns syndrome. It is important to consult with healthcare professionals and genetic counselors before making any medical decisions based on information obtained from these sources.

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 for scientific research. One of the rare genetic conditions listed in the catalog is Fryns syndrome.

Fryns syndrome is a genetic defect characterized by a range of abnormalities, including facial dysmorphism, defects in the fingers and toes, and defects in the diaphragm. People with Fryns syndrome may also have a cleft lip and palate, pulmonary hypoplasia, and congenital diaphragmatic hernia.

OMIM provides additional information on the genes and inheritance patterns associated with Fryns syndrome. This resource is particularly useful for genetic studies and patient advocacy. The catalog lists the names of genes involved in the condition, as well as scientific articles and references to PubMed for further research.

In addition to Fryns syndrome, OMIM contains information on a wide range of diseases and genetic disorders. The catalog can be searched by disease name, gene name, or OMIM number to access relevant information.

OMIM also provides resources such as frequency data, clinicaltrials.gov information, and links to other research centers for testing and support. This comprehensive catalog is an invaluable tool for researchers, clinicians, and individuals affected by rare genetic conditions.

Key Features of Fryns Syndrome

Defects	Frequency
Facial dysmorphism	High
Defects in fingers and toes	High
Cleft lip and palate	High
Pulmonary hypoplasia	High
Congenital diaphragmatic hernia	High
Hole in the heart	Low

OMIM is constantly updated with new scientific findings and advancements in the field. It serves as a valuable resource for researchers, clinicians, and individuals seeking information and support for various genetic diseases.

Scientific Articles on PubMed

The Fryns syndrome is a rare genetic condition that affects multiple body systems. It is caused by mutations in various genes and is characterized by a range of physical and developmental abnormalities.

Patients with Fryns syndrome may present with various symptoms, including diaphragmatic hernia, facial and limb anomalies, cleft lip and palate, pulmonary hypoplasia, and other congenital defects.

Before the discovery of the underlying genes associated with Fryns syndrome, the condition was often diagnosed based on the presence of multiple physical abnormalities. However, advancements in genetic testing have allowed for more accurate diagnosis and identification of specific genetic mutations.

Research studies have identified several genes that are involved in the development of Fryns syndrome, including the Fryns gene itself. These genes play critical roles in the formation and function of various body systems.

Scientific articles on PubMed provide valuable information on the genetic causes, clinical manifestations, and inheritance patterns of Fryns syndrome. They also offer resources for genetic testing, support for patients and families, and advocacy for rare diseases.

The frequency of Fryns syndrome is unknown, but it is considered a rare condition. The exact number of affected people is difficult to determine due to the variability and complexity of the syndrome.

Additional scientific articles on PubMed discuss associated pulmonary diseases, genetic counseling, and rare genetic variants that may contribute to the development of Fryns syndrome.

OMIM, a comprehensive catalog of human genes and genetic disorders, provides further information on the genes associated with Fryns syndrome and references to relevant research studies.

Support organizations and advocacy groups, such as the Fryns Syndrome Foundation, offer resources and support for individuals and families affected by the condition.

In conclusion, scientific articles on PubMed provide essential information on the genetic causes, clinical manifestations, and inheritance patterns of Fryns syndrome. These studies contribute to our understanding of the underlying genes and mechanisms involved in the development of this rare genetic disorder.

References

1. GeneReviews: Fryns Syndrome. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1436/
2. Fryns Syndrome. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/fryns-syndrome#resources
3. Freyns Syndrome. Orphanet. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2502
4. Additional Fryns Syndrome Resources. National Human Genome Research Institute. Retrieved from https://www.genome.gov/19519206/fryns-syndrome-additional-resources
5. Fryns Syndrome. Rare Diseases. Retrieved from https://rarediseases.org/rare-diseases/fryns-syndrome/
6. Kaissi, A.A., Muhammad, F.S., Qahtani, H.A. et al. Congenital pulmonary lymphangiectasia in Fryns syndrome. Ital J Pediatr 40, 85 (2014). Retrieved from https://doi.org/10.1186/s13052-014-0085-6
7. Nora, J.-J., Farag, H.F., & Nora, A.H. (2022) The Fryns Syndrome. In: Nora JJ., Hay WW., Murphy JJ. (eds) Advanced Therapy of Pediatric Cardiovascular Disease. Springer, Cham. Retrieved from https://doi.org/10.1007/978-3-030-87156-2_65
8. “Fryns Syndrome”. PubMed Health. Retrieved from https://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002560/