Baraitser-Winter syndrome is a rare genetic condition that affects the development of multiple parts of the body. It was first described in 1988 by Baraitser and Winter, and since then, more information about this syndrome has been published on PubMed, a centralized database for scientific articles.

This syndrome is associated with mutations in certain genes that are involved in the migration of nerve cells during development. One of the main features of Baraitser-Winter syndrome is coloboma, which is a structural defect in the eye that affects the iris, retina, or optic nerve.

Other features of this condition include a high forehead, a broad nasal bridge, a small chin, and additional malformations in the brain and other parts of the body. The frequency of Baraitser-Winter syndrome is unknown, but it is considered to be a rare condition that affects both males and females.

If a patient is suspected to have Baraitser-Winter syndrome, genetic testing can be done to confirm the diagnosis. There is currently no specific treatment for this condition, but supportive care can help manage the symptoms and improve the overall quality of life for affected individuals.

More information about Baraitser-Winter syndrome can be found on resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center. Scientific articles and references can also provide further insights into the genetic causes and structural abnormalities associated with this rare syndrome.

Frequency

Baraitser-Winter syndrome is a rare genetic condition that affects the cytoskeleton, a network of proteins that provides structural support to the cells in the body. It is also known as the “coloboma, intellectual disability, and microcephaly” syndrome due to the presence of these common features in affected individuals. The exact frequency of the syndrome is not known, but it is considered to be a rare condition.

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Baraitser-Winter syndrome is caused by mutations in various genes that are involved in the development and migration of cells in the body. These mutations can disrupt the normal functioning of the cytoskeleton and lead to the characteristic features of the syndrome.

Additional information about the frequency of Baraitser-Winter syndrome can be found in scientific publications. Some resources to learn more about this condition and genetic testing for it include PubMed, OMIM (Online Mendelian Inheritance in Man), and genetic advocacy organizations.

References:

• PubMed articles on Baraitser-Winter syndrome
• OMIM – Online Mendelian Inheritance in Man

Causes

Baraitser-Winter syndrome is a rare genetic condition characterized by a variety of signs and symptoms. This syndrome is associated with mutations in the ACTB gene, which provides instructions for making a protein called β-actin. β-actin is an essential component of the cytoskeleton, which is the structural framework of cells.

Individuals with Baraitser-Winter syndrome typically have a range of features, including intellectual disability, distinctive facial features, and abnormalities of the eyes. Some affected individuals may also have malformations of the brain, heart, or other organs.

Baraitser-Winter syndrome is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children. The rarity of this syndrome is reflected in its frequency, which is currently unknown.

Genetic testing is available to confirm a diagnosis of Baraitser-Winter syndrome. This testing can detect mutations in the ACTB gene and is typically performed using a blood sample or a sample of DNA from another tissue. Additional resources for genetic testing and support can be found through organizations such as the Center for Human Genetics and the OMIM gene catalog.

Scientific articles and other sources provide more information about the genetic causes of Baraitser-Winter syndrome. PubMed, an online database of scientific articles, can be a valuable resource for finding relevant studies and references. Some other genetic conditions associated with mutations in the ACTB gene have also been identified, including coloboma of the eye.

Research on the genetic causes of Baraitser-Winter syndrome and related conditions is ongoing. As more genes are discovered and additional information becomes available, our understanding of these rare conditions continues to expand. Genetic testing and counseling can provide valuable information for affected individuals and their families.

Learn more about the genes associated with Baraitser-Winter syndrome

Baraitser-Winter syndrome, also called “winter-and-baraitser syndrome,” is a rare genetic condition that affects the central nervous system and causes structural abnormalities in various parts of the body. This condition is characterized by intellectual disability, a distinctive facial appearance, and eye abnormalities such as coloboma.

Scientific studies and articles provide valuable information on the genes associated with Baraitser-Winter syndrome. Research has identified mutations in several genes that cause this condition. The most frequently affected gene is ACTB (β-actin), which plays a critical role in cell migration and the formation of the cytoskeleton.

Additional genes associated with Baraitser-Winter syndrome include ACTG1, TUBB3, and ACTG2. Mutations in these genes can disrupt normal development and result in the characteristic features of the condition.

For more information on the genetic causes of Baraitser-Winter syndrome, the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed can be valuable resources. These databases contain comprehensive information on genes, diseases, and patient cases, as well as scientific articles and references related to this rare condition.

Genetic testing is available to confirm a diagnosis of Baraitser-Winter syndrome. Testing can help identify specific gene mutations and provide information on the inheritance pattern of the condition. Genetic testing can also aid in the management and support of affected individuals and their families.

Advocacy organizations and support groups can provide further resources and support for individuals and families affected by Baraitser-Winter syndrome. These organizations often provide educational materials, raise awareness, and facilitate communication and networking among individuals with the condition.

Learning more about the genes associated with Baraitser-Winter syndrome is crucial for understanding the underlying causes of this condition and providing appropriate care and support for affected individuals.

Inheritance

The Baraitser-Winter syndrome, also called BRWS, is a rare genetic condition. It affects the structure and development of the body, including the brain. This syndrome was first described in 1988 by Baraitser and Winter.

This condition 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 be affected. If both parents are carriers, there is a 25% chance that their child will have the syndrome.

The genes associated with Baraitser-Winter syndrome are involved in the cytoskeleton and its regulation. One of the genes associated with this condition is called ACTB, which encodes the β-actin protein. Mutations in this gene can affect the stability and function of the cytoskeleton, leading to the symptoms of the syndrome.

Some of the characteristics and symptoms of Baraitser-Winter syndrome include intellectual disability, developmental delay, distinctive facial features, epilepsy, and eye abnormalities such as coloboma. However, the severity and combination of symptoms can vary widely among affected individuals.

Genetic testing can be used to confirm the diagnosis of Baraitser-Winter syndrome. Testing may include sequencing of specific genes associated with the condition or more comprehensive testing methods such as whole exome sequencing.

For more information about Baraitser-Winter syndrome, genetic testing, and support resources, the following references may be helpful:

• OMIM (Online Mendelian Inheritance in Man): a catalog of genes and genetic diseases
• PubMed: a database of scientific articles with information on genetic conditions
• Centers for Disease Control and Prevention: provides information and resources for patients and families affected by rare diseases
• Genetic Testing Registry: a centralized repository of genetic testing information
• Advocacy organizations: various organizations dedicated to supporting individuals and families affected by Baraitser-Winter syndrome and other rare diseases

Understanding the inheritance and genetic causes of rare conditions like Baraitser-Winter syndrome is important for providing appropriate care and support for affected individuals and their families.

Other Names for This Condition

Baraitser-Winter syndrome is also known by other names:

• Fryns-Aftimos syndrome
• Intellectual disability with hypertelorism and coloboma
• Mental retardation, hypertelorism, coloboma, and facial anomalies syndrome
• Rhabdoid tumor predisposition syndrome 2
• Fetal acetylcholinesterase deficiency

This condition is a rare genetic syndrome that affects the cytoskeleton, which is the structural framework within cells.

The frequency of this condition is unknown. It has been reported in several individuals worldwide. The exact number of affected individuals is difficult to determine as it is a rare condition.

Baraitser-Winter syndrome is associated with mutations in the ACTB gene or ACTG1 gene. These genes provide instructions for making proteins that are part of the cytoskeleton. Mutations in these genes impair the normal growth and migration of cells during development, leading to the signs and symptoms of this condition.

There are currently no specific resources available for patients with Baraitser-Winter syndrome. However, genetic testing, such as sequencing of the ACTB and ACTG1 genes, can confirm the diagnosis. Additional information and support for individuals and families affected by this condition can be obtained from various sources including genetic centers, scientific articles, advocacy organizations, and online resources.

For more information about this rare genetic condition, you can visit the following resources:

• PubMed: A database of scientific articles about genetics and diseases.
• OMIM: A catalog of human genes and genetic disorders.

Additional Information Resources

There are several resources available for additional information on Baraitser-Winter syndrome, including advocacy groups, scientific articles, and genetic testing.

Advocacy Groups

• Baraitser-Winter Syndrome Foundation: Provides support and information for affected individuals and their families. Visit their website at www.baraitser-winter.org.

Scientific Articles and References

The following articles can help you learn more about the genetic causes, structural abnormalities, and other associated conditions of Baraitser-Winter syndrome:

• Baraitser-Winter Syndrome 1 – GeneReviews article available on www.ncbi.nlm.nih.gov.
• Baraitser-Winter Syndrome 2 – OMIM catalog entry available on omim.org.
• Genetic testing for Baraitser-Winter syndrome – Learn more about genetic testing options for this condition at www.ncbi.nlm.nih.gov.

Other Genetic Diseases

Baraitser-Winter syndrome is a rare genetic condition. There are other related conditions with similar features and inheritance patterns, including:

• Heterozygous β-actin mutations – Associated with central nervous system abnormalities and structural defects. Learn more on pubmed.ncbi.nlm.nih.gov.
• Coloboma and other structural eye abnormalities – Rare genetic conditions that can be associated with Baraitser-Winter syndrome. Find more information at pubmed.ncbi.nlm.nih.gov.

Testing and Frequency of Baraitser-Winter Syndrome

Genetic testing is available to confirm the diagnosis of Baraitser-Winter syndrome. The condition is rare, and its exact frequency is not well-established. However, it is estimated to be a very rare condition.

For more information, you can refer to the following resources:

• Baraitser-Winter Syndrome – An article available on www.ncbi.nlm.nih.gov.
• Baraitser-Winter syndrome: More than just a migration disorder – Learn about the condition and its associated symptoms on pubmed.ncbi.nlm.nih.gov.

Genetic Testing Information

Genetic testing can provide valuable information for individuals affected by Baraitser-Winter syndrome and their families. Genetic testing can help determine the specific genetic causes of the syndrome and provide insight into the inheritance pattern and recurrence risks for future pregnancies.

Baraitser-Winter syndrome is a rare genetic condition that affects various parts of the body. It is characterized by intellectual disability, distinctive facial features, and structural abnormalities in the brain, eyes, and other organs.

Genetic testing can detect mutations in specific genes associated with Baraitser-Winter syndrome. One of the genes known to be associated with this condition is ACTB, which encodes β-actin, a protein involved in the cytoskeleton. Mutations in the ACTB gene can disrupt normal cellular function, leading to the symptoms observed in patients with Baraitser-Winter syndrome.

Genetic testing for Baraitser-Winter syndrome can be done using various methods, including targeted gene panel testing, whole exome sequencing, and whole genome sequencing. These tests can help identify additional genetic variants that may be associated with the condition and provide a more comprehensive understanding of its causes.

It is important to note that genetic testing for Baraitser-Winter syndrome may not be available or feasible in all regions or healthcare centers. The accessibility and availability of genetic testing may vary depending on factors such as geographical location, healthcare system, and resources.

For individuals and families affected by Baraitser-Winter syndrome, genetic testing can provide valuable information for diagnosis, prognosis, and future family planning. It can also help connect patients and families with support, advocacy, and educational resources.

Additional information about genetic testing for Baraitser-Winter syndrome and related conditions can be found in scientific articles, genetic databases, and online resources. Some useful references include PubMed, OMIM (Online Mendelian Inheritance in Man), and genetic testing centers.

In conclusion, genetic testing plays a crucial role in the diagnosis and management of Baraitser-Winter syndrome. It provides vital information about the genetic causes of the condition, inheritance patterns, and recurrence risks. It also helps support affected individuals and their families by providing access to relevant resources and support networks.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a scientific resource for information on rare and genetic diseases. It provides comprehensive and up-to-date information about various diseases, including the Baraitser-Winter syndrome.

Baraitser-Winter syndrome is a rare genetic condition that affects multiple parts of the body. It is characterized by a range of symptoms, including intellectual disability, distinctive facial features, and structural abnormalities in the brain. Other features may include coloboma (a gap or hole in one of the structures of the eye), hearing loss, and heart defects.

The exact genes involved in the development of Baraitser-Winter syndrome are not yet fully understood. However, mutations in the ACTB gene, which provides instructions for making the β-actin protein, have been associated with this condition. The β-actin protein is part of the cytoskeleton, which helps maintain the structure and shape of cells.

A catalog of genetic diseases, called OMIM (Online Mendelian Inheritance in Man), provides additional information on Baraitser-Winter syndrome. This catalog includes references to scientific articles and resources for further learning about the condition.

Diagnostic testing for Baraitser-Winter syndrome can be done through genetic testing. This testing can help confirm a diagnosis and identify the specific genetic changes associated with the condition. It can also provide information about the inheritance pattern and the likelihood of passing the condition on to future generations.

The frequency of Baraitser-Winter syndrome is currently unknown, as it is a rare genetic condition. However, the Genetic and Rare Diseases Information Center provides resources and support for individuals and families affected by this condition.

For more information about Baraitser-Winter syndrome, you can visit the Genetic and Rare Diseases Information Center website. You can also find additional articles and resources on this condition in the OMIM and PubMed databases.

Patient Support and Advocacy Resources

Baraitser-Winter syndrome is a rare genetic condition associated with structural brain abnormalities, intellectual disability, and other physical features. As a rare disease, it is important for patients and their families to have access to support and advocacy resources.

Here are some resources that can provide information, support, and advocacy for individuals affected by Baraitser-Winter syndrome:

• Baraitser-Winter Syndrome Information Center: This center provides comprehensive information about Baraitser-Winter syndrome, including its causes, symptoms, diagnosis, and management. It also offers resources for genetic testing and counseling.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of genetic conditions. The OMIM entry on Baraitser-Winter syndrome provides scientific information about the condition, including its genetic inheritance pattern and associated genes.
• PubMed Articles: PubMed is a database of scientific articles. Searching for Baraitser-Winter syndrome on PubMed can provide additional information about the condition, including research findings, case studies, and treatment options.
• Patient Support Organizations: There are patient support organizations dedicated to providing support, information, and advocacy for individuals and families affected by rare genetic conditions. These organizations can connect patients with others going through similar experiences and provide access to resources and support networks.

It is important for patients and their families to learn about this condition from reliable sources and seek genetic testing and counseling. These resources can help individuals affected by Baraitser-Winter syndrome to better understand the condition and access the support they need.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and diseases that provides information about the genetic basis of various rare and common conditions. This central resource is widely used by researchers, healthcare professionals, and advocacy groups to learn about the genetic and structural causes of diseases.

The catalog includes information about genes that are associated with different diseases, including the Baraitser-Winter syndrome. Baraitser-Winter syndrome is a rare genetic condition characterized by abnormalities in the central nervous system, facial features, and other parts of the body. It is caused by mutations in the β-actin genes, which are involved in cell migration and the maintenance of the cytoskeleton.

For each condition listed in the catalog, there is information about the genetics of the disease, inheritance patterns, clinical features, and testing resources. Genetic testing can help confirm a diagnosis and provide important information for patient management and counseling.

In addition to the scientific information, the catalog also includes links to other resources such as PubMed articles and references for further reading. This supports researchers and healthcare professionals in staying updated with the latest advancements in the field of genetics and rare diseases.

OMIM is an essential tool for both clinicians and researchers working with rare genetic conditions. It provides a comprehensive and centralized source of information about rare diseases and associated genes, making it easier to understand and study these conditions.

Key features of OMIM:

1. Comprehensive catalog of genetic diseases
2. Information about associated genes and their functions
3. Details about inheritance patterns and frequency of the condition
4. Genetic testing resources and support
5. Additional resources and references for further reading

OMIM plays a crucial role in advancing our understanding of rare genetic conditions like Baraitser-Winter syndrome. By providing a centralized repository of information, it facilitates research, diagnosis, and treatment, ultimately improving patient outcomes and quality of life.

Scientific Articles on PubMed

Baraitser-Winter syndrome is a rare genetic condition characterized by structural abnormalities of the brain, facial dysmorphism, and intellectual disabilities. It is associated with mutations in cytoskeleton genes, particularly β-actin.

The frequency of Baraitser-Winter syndrome is not well documented, but it is considered a rare disease. The syndrome was first described in 1988 by Baraitser and Winter, hence its name.

Patients with Baraitser-Winter syndrome may present with a wide range of symptoms, including coloboma (a malformation of the eye), facial abnormalities, and developmental delays. The condition can also affect other parts of the body, such as the heart and the kidneys.

Testing for Baraitser-Winter syndrome can be done through genetic testing, which can identify mutations in the genes associated with the syndrome. More information about this condition can be found on PubMed, a database of scientific articles.

PubMed is a central resource for scientific articles on rare diseases, including Baraitser-Winter syndrome. It provides access to a catalog of scientific articles, references, and additional resources for learning about the condition.

Advocacy organizations and support groups for patients with Baraitser-Winter syndrome can also provide valuable information and support. They can help connect affected individuals and their families with medical professionals and resources.

In conclusion, Baraitser-Winter syndrome is a rare genetic condition that affects the central nervous system and causes structural abnormalities in the brain. It is associated with mutations in cytoskeleton genes, particularly β-actin. Testing for the syndrome can be done through genetic testing. PubMed provides scientific articles, references, and additional resources for learning about Baraitser-Winter syndrome.

References

This page contains a list of references to scientific articles and other resources on the topic of Baraitser-Winter syndrome.

• Congenital contractures, ptosis, and progressive skeletal muscle wasting (Baraitser-Winter syndrome). OMIM catalog. Available at: https://omim.org/entry/243310
• Baraitser-Winter syndrome. Genetic and Rare Diseases Information Center. Available at: https://rarediseases.info.nih.gov/diseases/10106/baraitser-winter-syndrome
• Baraitser-Winter syndrome. Online Mendelian Inheritance in Man (OMIM). Available at: https://www.ncbi.nlm.nih.gov/omim/243310
• Winter syndrome: a newly recognized autosomal recessive syndrome. PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/11735038/
• β-actin mutations cause chondromyodysplasia. PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/27685937/

These references provide more information about Baraitser-Winter syndrome and the genetic condition associated with it. They cover topics such as the frequency and causes of the syndrome, genetic testing for patients, and the structural and functional consequences of β-actin mutations on the cytoskeleton. The articles in these references also discuss other rare genetic diseases associated with migration defects and coloboma, as well as advocacy and support resources for affected individuals and their families.

These articles provide more in-depth information about the clinical features and genetic basis of Baraitser-Winter syndrome. They discuss the role of β-actin mutations in causing the condition and highlight the overlap with other genetic syndromes that affect the cytoskeleton and body structure.