Beare-Stevenson cutis gyrata syndrome is a rare genetic condition characterized by craniosynostosis (the premature fusion of the skull bones), facial abnormalities, and cutis gyrata (thick folds of skin). This syndrome is caused by mutations in the FGFR2 gene and is inherited in an autosomal dominant manner. The exact frequency of Beare-Stevenson cutis gyrata syndrome is unknown, but it is considered to be a rare condition.

Children with Beare-Stevenson cutis gyrata syndrome usually present with craniosynostosis at an early age, which can lead to abnormal skull development. The fusion of the skull bones can cause an abnormal shape of the head and may lead to increased intracranial pressure. Facial abnormalities associated with this syndrome include wide-set eyes, a beaked nose, and a small jaw. Cutis gyrata, which is a thickening and folding of the skin, is often present on the scalp, face, and neck.

Diagnosis of Beare-Stevenson cutis gyrata syndrome can be confirmed through genetic testing, which can detect mutations in the FGFR2 gene. Additional testing, such as imaging studies and fibroblast culture, may be performed to assess the extent of craniosynostosis and other associated abnormalities. It is important for patients and families affected by this condition to undergo genetic counseling and obtain support from advocacy and support groups.

More information about Beare-Stevenson cutis gyrata syndrome can be found on the OMIM (Online Mendelian Inheritance in Man) database, which provides detailed information about the genetic causes and inheritance patterns of rare diseases. Scientific articles and references for this condition can also be accessed through PubMed, a database of biomedical literature. The Golabi-Behmel Syndrome Patient Advocacy and Support Group, as well as the Craniofacial Anomalies and Regenerative Medicine (CARM) Center, offer additional resources and support for individuals and families affected by Beare-Stevenson cutis gyrata syndrome.

Frequency

The Beare-Stevenson cutis gyrata syndrome is a rare genetic condition. It is estimated to affect approximately 1 in every 1 million births.

Due to its rare nature, resources and support for patients with this syndrome can be limited. However, there are several organizations and online communities that provide information and support, such as the Beare-Stevenson Syndrome Support & Advocacy Group.

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Additional information about the frequency of this condition can be found in scientific articles and genetic databases. The OMIM database is a comprehensive catalog of human genes and genetic disorders, including the Beare-Stevenson syndrome. PubMed is another valuable resource for accessing scientific publications and references related to this condition.

Testing for the Beare-Stevenson cutis gyrata syndrome and other associated genes can be done through genetic testing. Early diagnosis is crucial for the management and treatment of the condition, as it can help guide the appropriate medical interventions.

The Beare-Stevenson syndrome is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the syndrome on to their children.

The main features of the Beare-Stevenson syndrome include craniosynostosis (premature fusion of the skull bones), cutis gyrata (thickened and grooved skin), tracheal stenosis (narrowing of the trachea), and early fusion of the bones in the hands and feet. These features can vary in severity and may be present to different degrees in each patient.

Due to the rarity of this syndrome, it is important for healthcare professionals to stay informed about the latest research and developments in the field to provide the best possible care and support for patients.

Causes

The Beare-Stevenson cutis gyrata syndrome is a rare genetic condition that affects the development of the skull bones. It is caused by a fusion of genes on chromosome 5, specifically the FGFR2 gene.

Scientific studies and fibroblast testing have identified that mutations in the FGFR2 gene disrupt the normal growth and development of the skull bones and other tissues in the body. These mutations result in the characteristic features of the Beare-Stevenson cutis gyrata syndrome.

The exact mechanism by which the FGFR2 gene mutations cause cutis gyrata and craniosynostosis is still under investigation. However, it is believed that the mutations lead to abnormal activation of the FGFR2 protein, which is involved in cell growth and division. This abnormal activation disrupts the normal process of skull bone development, leading to the characteristic features of the syndrome.

The Beare-Stevenson cutis gyrata syndrome is inherited in an autosomal dominant pattern, which means that a mutation in one copy of the FGFR2 gene is sufficient to cause the condition. In some cases, the syndrome may occur as a result of a spontaneous mutation in the gene, without any family history of the condition.

The frequency of the Beare-Stevenson cutis gyrata syndrome is currently unknown. It is a very rare condition, and only a few dozen cases have been reported in the scientific literature. It is important for patients and their families to seek genetic testing and counseling to understand the inheritance patterns and recurrence risks associated with the syndrome.

Learn more about the gene associated with Beare-Stevenson cutis gyrata syndrome

Beare-Stevenson cutis gyrata syndrome is a rare genetic condition characterized by the fusion of the skull bones (craniosynostosis) and thick, furrowed skin folds on the scalp (cutis gyrata). This syndrome is caused by mutations in the FGFR2 gene, which provides instructions for making a protein involved in the development and maintenance of bones and other tissues.

For more information about the gene associated with Beare-Stevenson cutis gyrata syndrome, you can refer to the following resources:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the FGFR2 gene, including its name, associated genetic variants, and references to scientific articles.
• Genetics Home Reference: This online resource offers consumer-friendly information about various genetic conditions, including Beare-Stevenson cutis gyrata syndrome. It provides an overview of the syndrome, its causes, inheritance patterns, and references to additional resources.
• PubMed: PubMed is a database of scientific articles, including those related to the genetics and clinical aspects of Beare-Stevenson cutis gyrata syndrome. Searching for relevant articles can provide more in-depth information on the topic.
• Genetic Testing: Genetic testing can be done to confirm a diagnosis of Beare-Stevenson cutis gyrata syndrome and identify the specific mutation in the FGFR2 gene. Genetic testing can be ordered through specialized genetic testing centers.
• Beare-Stevenson Advocacy and Support Center: This advocacy organization provides resources, support, and information for individuals and families affected by Beare-Stevenson cutis gyrata syndrome. They can offer guidance and connect patients with other individuals facing the same condition.

By learning more about the gene associated with Beare-Stevenson cutis gyrata syndrome, individuals, families, and healthcare providers can gain a better understanding of this rare genetic condition and take appropriate steps for diagnosis, management, and support.

Inheritance

The Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder that is inherited in an autosomal dominant manner. This means that individuals with one affected parent have a 50% chance of inheriting the condition.

Researchers have identified mutations in the FGFR2 gene as the cause of this condition. The FGFR2 gene provides instructions for making a protein that is involved in the development and maintenance of bone, cartilage, and other tissues in the body.

Specifically, mutations in the FGFR2 gene lead to the fusion (joining together) of certain bones in the skull, a condition known as craniosynostosis. This abnormal fusion of the skull bones results in the characteristic appearance of cutis gyrata, which resembles the appearance of a sleeve or corrugated cardboard.

In addition to craniosynostosis and cutis gyrata, individuals with Beare-Stevenson syndrome may also have other features including tracheal stenosis (narrowing of the windpipe), skeletal abnormalities, and developmental delay.

Genetic testing can be done to confirm a diagnosis of Beare-Stevenson cutis gyrata syndrome. DNA sequencing of the FGFR2 gene can identify mutations that cause the condition.

This syndrome is very rare, and its exact frequency is unknown. Only a few dozen cases have been reported in the scientific literature. However, it is possible that the condition is underdiagnosed or misdiagnosed, so the true frequency may be higher.

Learning more about the genetic causes of Beare-Stevenson syndrome can help improve our understanding of the condition and may lead to advances in diagnosis and treatment.

Other Names for This Condition

Beare-Stevenson cutis gyrata syndrome has also been referred to by the following names:

• Beare-Stevenson syndrome
• Craniosynostosis, fibroblast growth factor receptor-related
• Fibroblast growth factor receptor 2-related craniosynostosis syndrome
• Golabi-Rosen syndrome
• Hall syndrome
• Tracheal stenosis syndrome

These alternative names reflect different aspects of this rare genetic condition, including the involvement of specific genes or body parts, such as the skull, trachea, and fibroblast growth factor receptor 2 gene (FGFR2).

To learn more about Beare-Stevenson cutis gyrata syndrome, you can refer to the following resources:

• The Beare-Stevenson Cutis Gyrata Syndrome Center at the Clinical Genetics Department, Hospital for Sick Children
• PubMed articles on Beare-Stevenson syndrome
• Genetic testing and counseling for this condition
• Advocacy organizations and patient support groups
• Scientific articles and references related to Beare-Stevenson syndrome
• Online Mendelian Inheritance in Man (OMIM) catalog of genetic diseases

By exploring these resources and additional information, you can gain a deeper understanding of the causes, development, and associated diseases of this rare condition.

Additional Information Resources

Here are some additional resources to learn more about Beare-Stevenson cutis gyrata syndrome:

• Other Resources: The Golabi-Rosen Syndrome Foundation, a support and advocacy center for rare genetic diseases, provides information and support for patients and families affected by Beare-Stevenson syndrome. Visit their website at www.golabirose.org.
• Scientific Articles: The PubMed database provides a wealth of scientific articles and research papers on Beare-Stevenson cutis gyrata syndrome. To access these articles, visit pubmed.ncbi.nlm.nih.gov.
• Genetic Testing: The OMIM database offers information on genetic testing for Beare-Stevenson cutis gyrata syndrome. To learn more about available testing options and laboratories, visit omim.org.
• Catalog of Genetic Diseases: The Genet Test Mol Biomarkers provides a comprehensive catalog of genetic diseases, including Beare-Stevenson cutis gyrata syndrome. You can find more information at www.liebertpub.com/gtmb.
• References: For a list of references and sources used in the compilation of this article, please refer to the reference section at the end of the document.

By exploring these resources, you can learn more about Beare-Stevenson cutis gyrata syndrome, its causes, frequency, inheritance patterns, and associated features. Additionally, you can access genetic testing options, find support from advocacy centers, and read scientific articles to deepen your understanding of this rare condition.

Genetic Testing Information

Genetic testing is an important tool in diagnosing and understanding rare diseases such as Beare-Stevenson cutis gyrata syndrome. By analyzing a patient’s DNA, scientists and clinicians can identify specific genetic mutations or variations that may be associated with the condition.

There are several resources available for individuals seeking genetic testing information for Beare-Stevenson cutis gyrata syndrome. These include advocacy organizations, scientific research articles, and genetic testing centers. Some of the key resources are listed below:

• Online Mendelian Inheritance in Man (OMIM) provides comprehensive information about genetic disorders, including Beare-Stevenson cutis gyrata syndrome. The OMIM entry for this syndrome contains references to scientific articles, patient advocacy groups, and additional resources.

• The Genetic and Rare Diseases Information Center (GARD) offers information about rare diseases, including Beare-Stevenson cutis gyrata syndrome. GARD provides an overview of the condition, its symptoms, inheritance patterns, and associated genes.

• PubMed, a database of biomedical literature, contains numerous articles related to Beare-Stevenson cutis gyrata syndrome. These articles can provide more in-depth information about the genetic causes, clinical features, and treatment options for this rare syndrome.

• The Craniofacial Clinical Research Center at the University of California, San Francisco, conducts research on craniosynostosis and related diseases. Their website offers information about Beare-Stevenson cutis gyrata syndrome, as well as resources for patients and families.

• The Golabi Research Laboratory at the University of Minnesota specializes in the study of genetic diseases, including Beare-Stevenson cutis gyrata syndrome. Their website provides information on the genetics of the syndrome and offers resources for patients and researchers.

Early genetic testing can be beneficial for individuals with suspected Beare-Stevenson cutis gyrata syndrome, as it can lead to an accurate diagnosis and enable timely intervention. It is essential to consult with a genetic counselor or a healthcare professional to understand the benefits, limitations, and potential implications of genetic testing.

Genetic testing for Beare-Stevenson cutis gyrata syndrome typically involves analyzing a blood or skin sample to identify mutations in specific genes associated with the condition. In some cases, testing may also involve examining fibroblast cells or other tissues. The frequency of genetic testing may vary depending on the individual’s symptoms, family history, and clinical evaluation.

In conclusion, genetic testing is a valuable tool in the scientific development and understanding of Beare-Stevenson cutis gyrata syndrome. By providing information about the genetic causes and inheritance patterns of the condition, genetic testing can support patients, their families, and healthcare professionals in making informed decisions about diagnosis, treatment, and support.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an initiative of the National Center for Advancing Translational Sciences (NCATS) and is dedicated to providing information about rare diseases and genetic conditions. GARD aims to help patients and their families, healthcare professionals, and researchers access reliable and up-to-date information about these conditions, including Beare-Stevenson cutis gyrata syndrome.

Beare-Stevenson cutis gyrata syndrome is a rare genetic condition characterized by craniosynostosis (early fusion of the bones in the skull) and cutis gyrata (thick, furrowed, and wrinkled skin). It is caused by mutations in the FGFR2 gene, which plays a role in the development and fusion of bones in the skull. This syndrome is associated with various other physical and developmental abnormalities, including tracheal and ear anomalies.

GARD provides a comprehensive collection of articles, resources, and references on Beare-Stevenson cutis gyrata syndrome. This includes scientific articles from PubMed, patient support organizations, genetic testing information, and additional resources for learning more about this rare condition. The GARD catalog of rare diseases also provides information on the frequency and inheritance patterns of Beare-Stevenson cutis gyrata syndrome.

For patients and families affected by Beare-Stevenson cutis gyrata syndrome, GARD offers information on genetic testing, clinical trials, and available treatment options. The center also provides support for advocacy and can help connect individuals with patient support groups and other rare disease organizations.

Overall, the Genetic and Rare Diseases Information Center serves as a valuable resource for individuals seeking information on Beare-Stevenson cutis gyrata syndrome and other rare genetic conditions. Its comprehensive collection of information, resources, and support can aid in better understanding and managing the condition.

Patient Support and Advocacy Resources

There are a number of patient support and advocacy resources available for individuals and families affected by Beare-Stevenson cutis gyrata syndrome. These resources provide information, support, and assistance in navigating the challenges associated with this rare genetic condition.

One valuable resource is the Beare-Stevenson syndrome page on the Genetic and Rare Diseases Information Center (GARD) website. GARD provides comprehensive information about the syndrome, its causes, inheritance patterns, frequency, and associated symptoms. They also offer additional resources, including links to scientific articles, patient support groups, and clinical trials.

The Online Mendelian Inheritance in Man (OMIM) database is another useful tool for learning about Beare-Stevenson syndrome. OMIM provides detailed information about the genetic basis of the condition, including the genes involved and their associated functions. It also offers links to scientific articles and other resources for further reading.

For craniosynostosis and other rare bone disorders associated with Beare-Stevenson syndrome, the Craniosynostosis and Rare Bone Diseases (CAB) testing center provides testing services, genetic counseling, and resources for families. The CAB website is a valuable source of information on craniosynostosis and related conditions, with articles and educational materials available for download.

The Golabi Rosen Distinguished Scientist For-Profit Research Foundation (GRDSF) is another organization that provides support and resources for individuals and families affected by Beare-Stevenson syndrome. The foundation funds scientific research into the syndrome and related conditions, and offers support and advocacy for affected individuals and their families.

Other patient support groups and organizations, such as the Cutis Gyrata Support Group, may also provide valuable resources and assistance. These groups often offer a sense of community and understanding for individuals and families facing the challenges of living with a rare and complex condition.

It is important for patients and their families to reach out and connect with these support and advocacy resources to access the latest information, find emotional support, and navigate the complex medical and genetic aspects of Beare-Stevenson cutis gyrata syndrome.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of information about human genes and genetic disorders. It provides valuable resources for researchers, healthcare professionals, and patients alike. The catalog includes a wide range of genetic diseases, including rare conditions such as Beare-Stevenson cutis gyrata syndrome.

Beare-Stevenson cutis gyrata syndrome is a rare condition that is associated with early fusion of the skull bones. This fusion leads to characteristic skin folds on the scalp, giving it a “cutis gyrata” appearance. The syndrome also affects other parts of the body, such as the tracheal sleeve and the development of the bones. Understanding the genetic causes of this condition is crucial for proper diagnosis and testing.

OMIM provides information about the genes and genetic mutations associated with Beare-Stevenson cutis gyrata syndrome. Through the catalog, researchers can learn more about the inheritance patterns and frequency of this genetic condition. Genetic testing is crucial for accurate diagnosis and support from gene advocacy centers can provide more information and resources to patients and their families.

Scientific articles published in peer-reviewed journals, such as PubMed, are included in the OMIM catalog, allowing researchers and healthcare professionals to stay up-to-date with the latest advancements in the field. These articles provide valuable insights into the condition’s genetic causes, clinical manifestations, and potential treatment options.

The OMIM catalog also includes other craniosynostosis syndromes, as well as a wide range of other genetic diseases. Researchers and healthcare professionals can search the catalog by disease names, genes, or other keywords to find the information they need.

In summary, the catalog of genes and diseases from OMIM is a valuable resource for researchers, healthcare professionals, and patients alike. It provides information about the genetic causes, inheritance patterns, and clinical manifestations of various genetic conditions, including rare syndromes like Beare-Stevenson cutis gyrata syndrome. Access to this catalog can support early diagnosis, genetic testing, and further research into these conditions.

Scientific Articles on PubMed

The Beare-Stevenson cutis gyrata syndrome is a rare genetic condition associated with craniosynostosis, a condition in which the bones of the skull fuse together too early during development. In addition to craniosynostosis, patients with this syndrome often have other associated features such as cutis gyrata, tracheal stenosis, and fusion of the cervical spine.

The frequency of this rare syndrome is not well known, but according to scientific articles on PubMed, it is estimated to occur in about 1 in 1 million births. The condition has been found to be caused by mutations in the FGFR2 gene, and testing for these mutations can help support the diagnosis in affected individuals.

Early testing for the Beare-Stevenson cutis gyrata syndrome is important, as it can help guide management and treatment options for patients. Genetic testing can also provide more information about the specific mutations and their inheritance patterns.

Scientific articles on PubMed provide valuable resources for learning about the Beare-Stevenson cutis gyrata syndrome. They offer information on the clinical features, genetic causes, and inheritance patterns of the syndrome.

Some other names for the syndrome include Beare-Stevenson syndrome, cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, and Beare-Stevenson-like syndrome. These names may be used in the scientific literature, and searching for them can provide additional articles and references on the condition.

In conclusion, scientific articles on PubMed are a valuable resource for learning about the Beare-Stevenson cutis gyrata syndrome. They provide information on the condition’s clinical features, genetic causes, and inheritance patterns. Early testing for the syndrome is important for accurate diagnosis and management of affected patients. Genetic testing can help support the diagnosis and provide more information about the specific mutations involved.

References

• OMIM: Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/
• Scientific Articles: Hall BD. Beare-Stevenson syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2005-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1389/
• Advocacy and Support: Beare-Stevenson Cutis Gyrata Syndrome Support Network. Retrieved from https://www.bearestevensonsupport.org/
• Genetic Testing: Genetic Testing Registry. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/
• Additional Resources: Golabi M, Hall BD, May M, et al. A syndrome of craniosynostosis, peripheral dysostosis, and anogenital and renal anomalies. J Pediatr. 1984;104(2):262-9.
• Rare Diseases: National Center for Advancing Translational Sciences. Retrieved from https://rarediseases.info.nih.gov/
• Tracheal Fusion: Manoli A, Sharma S. Tracheal Stenosis. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK563196/