Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome, also known as BWS, is a rare genetic condition that causes abnormal growth and development of various organs in the body. It is estimated to affect about 1 in 13,700 individuals worldwide. BWS is typically associated with overgrowth and an increased risk of developing tumors.

This condition is caused by changes or abnormalities in certain genes. There are several genes associated with BWS, including the CDKN1C gene, which is involved in regulating cell growth and division. In most cases, these genetic changes occur randomly and are not inherited from the parents. However, a small percentage of individuals with BWS have an inherited form of the condition.

There is currently no cure for BWS, but early diagnosis and management can help improve outcomes for affected individuals. It is important for individuals and families affected by BWS to learn as much as possible about the condition and available resources. There are several organizations and advocacy groups that provide support, information, and resources for individuals with BWS and their families.

Scientific research continues to uncover more information about BWS, including its causes, associated diseases, and potential treatment options. Genomic studies have identified other genes and genomic regions that may be involved in the development of BWS. Additionally, there is ongoing research into the genetic and molecular basis of BWS, as well as potential clinical trials and testing options.

In conclusion, Beckwith-Wiedemann syndrome is a rare genetic condition that causes abnormal growth and development of various organs in the body. It is associated with overgrowth and an increased risk of developing tumors. While there is no cure currently available, ongoing research and advancements in genomic and molecular studies offer hope for improved understanding and management of this condition. It is important for individuals and families affected by BWS to seek support, information, and resources from recognized advocacy centers and scientific catalogs.

Frequency

The frequency of Beckwith-Wiedemann syndrome (BWS) is estimated to be approximately 1 in 10,000 births, making it a relatively rare condition. However, the actual frequency may be higher due to underdiagnosis or misdiagnosis.

BWS is thought to occur equally in males and females and is found in all ethnic groups. It has been cataloged in the OMIM database and various other resources, providing comprehensive information on the syndrome and its associated features.

Consensus diagnostic criteria for BWS have been established, which include clinical criteria and molecular testing for specific genetic abnormalities. These criteria help clinicians diagnose the syndrome and determine appropriate management and surveillance measures.

Genetic Causes

In most cases, BWS is caused by abnormalities in the expression of certain genes that are involved in growth and development. About 85% of individuals with BWS have an abnormality in chromosome 11p15.5, which can result from various genetic changes. The most common molecular defects include abnormal DNA methylation patterns and alterations in the expression of imprinted genes.

In about 20% of BWS cases, the syndrome is inherited from a parent who also has BWS. Inheritance patterns can be complex, as genetic changes can be paternally or maternally derived and may involve multiple genes. Therefore, genetic testing of both parents and the affected individual is typically recommended to determine the specific genetic cause of BWS.

Cancer Risk

Individuals with BWS have an increased risk of developing certain types of cancer, particularly tumors of the liver and kidneys. The risk of developing cancer varies depending on the specific genetic abnormalities present in an individual with BWS.

Several studies have shown an increased risk of cancer in individuals with BWS, and regular cancer surveillance is recommended in affected individuals. Early detection and treatment of tumors can improve outcomes and reduce the risk of complications.

Additional Information and Resources

For additional information on Beckwith-Wiedemann syndrome, including genetic testing, clinical trials, and support resources, refer to the following:

  • OMIM database: Provides detailed information on the genes associated with BWS and their known abnormalities.
  • PubMed: Offers research articles and studies on BWS and related topics.
  • Genetic Testing Registry: Provides information on available genetic tests for BWS.
  • Beckwith-Wiedemann Children’s Foundation: An advocacy organization that supports individuals and families affected by BWS.
  • ClinicalTrials.gov: Lists ongoing and completed clinical trials related to BWS.

Causes

The Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder that is known to be associated with several causative genetic and epigenetic abnormalities. The condition occurs due to the abnormal expression or function of certain genes involved in the regulation of growth and development.

One of the main causes of BWS is the abnormal expression of specific genes on chromosome 11. In most cases, BWS is sporadic and occurs by chance with no identifiable cause, but in some cases, it can be inherited from a parent who carries the responsible gene alteration.

According to scientific research and studies, around 85% of BWS cases are sporadic, while the remaining 15% have an identified genetic cause. In sporadic cases, the genetic alteration typically occurs during the formation of an individual’s egg or sperm cells.

In rare cases, BWS can be inherited in an autosomal dominant manner, with a 50% chance of passing the condition from an affected parent to their child. In these cases, a specific gene alteration can be identified and genetic testing can be performed to confirm the diagnosis.

Several genes have been associated with BWS, including the genes CDKN1C, H19, KCNQ1OT1, and IGF2. These genes are involved in the regulation of cell growth, proliferation, and development during embryogenesis. Abnormalities in these genes can disrupt the normal growth and development of various organs and tissues in the affected individual.

Epigenetic changes, such as alterations in DNA methylation patterns, have also been implicated in the development of BWS. These changes can affect the expression of certain genes and lead to abnormal growth and development. The specific mechanisms underlying the epigenetic changes in BWS are still being investigated.

Additional factors that can contribute to the development of BWS include advanced parental age, certain assisted reproductive technologies, and certain medical conditions, such as pre-existing tumors or cancer. It is important for individuals with BWS and their families to undergo appropriate medical evaluation and testing to identify any associated conditions or complications that may require further management.

Genetic testing and counseling can play a crucial role in the diagnosis and management of BWS. Genetic testing can help identify specific gene alterations or epigenetic changes associated with BWS, which can aid in confirming the diagnosis and providing appropriate medical care. Genetic counselors can provide guidance and support regarding the inheritance pattern, recurrence risk, and available treatment options.

References:

  • Choufani, S., & Shuman, C. (2021). Beckwith-Wiedemann Syndrome. In GeneReviews®. University of Washington, Seattle.
  • Kalish, J. M., & Bawle, E. V. (2019). Beckwith-Wiedemann Syndrome. In StatPearls. StatPearls Publishing.
  • Beckwith-Wiedemann Syndrome. (n.d.). Retrieved July 21, 2021, from Genetics Home Reference website: https://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome
  • Beckwith-Wiedemann syndrome. (n.d.). In OMIM. Johns Hopkins University.
  • Beckwith-Wiedemann Syndrome. (n.d.). Retrieved July 21, 2021, from https://www.clinicaltrials.gov
  • Beckwith-Wiedemann Syndrome. (n.d.). Retrieved July 21, 2021, from Beckwith-Wiedemann Children’s Foundation website: https://www.bwskids.org
  • BWS: Beckwith-Wiedemann syndrome. (2020). In Genet Med. 23, 3-19.

Learn more about the genes and chromosome associated with Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder that affects the growth and development of various organs in the body. It is characterized by abnormally large size at birth, organ overgrowth, and an increased risk of certain cancers.

BWS is primarily caused by genetic abnormalities involving genes and chromosomes. More specifically, there are several genes and chromosomal regions that have been associated with this syndrome.

One of the genes commonly involved in BWS is CDKN1C, which is located on chromosome 11p15. This gene regulates cell growth and division, and mutations in this gene can disrupt normal genomic imprinting, leading to overgrowth and abnormal organ development.

Other genes associated with BWS include H19, IGF2, KCNQ1OT1, and KCNQ1. These genes also play important roles in cell growth and division, and their dysregulation can contribute to the development of BWS.

The inheritance pattern of BWS is complex and can vary from person to person. In most cases, BWS is not inherited from the parents and occurs sporadically. However, in some cases, there may be a familial inheritance pattern, with the condition being passed down from one generation to the next.

Genetic testing can be helpful in diagnosing BWS and identifying the specific genetic abnormalities associated with the condition. This testing can also provide important information about the risk of cancer and other potential complications.

Scientific studies and research have provided valuable insights into the molecular mechanisms and genetic causes of BWS. However, there is still much to learn about this rare genetic syndrome.

Support and advocacy groups such as the Beckwith-Wiedemann Syndrome Foundation and the European Network for Research on Beckwith-Wiedemann Syndrome provide additional information, resources, and support for individuals and families affected by BWS.

It is important to note that BWS is a rare condition, with a frequency of approximately 1 in 13,700 births. Due to its rarity, there may be limited clinical studies and resources available for individuals with BWS.

In conclusion, Beckwith-Wiedemann syndrome is a rare genetic disorder characterized by organ overgrowth and an increased risk of cancer. The syndrome is associated with various genes and chromosome abnormalities, including CDKN1C and other genes located on chromosome 11p15. Genetic testing can aid in diagnosis and provide important information about the condition. Continued research and clinical studies are needed to further understand the causes and molecular mechanisms of BWS.

For more information on Beckwith-Wiedemann syndrome, please refer to the following resources:

See Also:  CLCN2-related leukoencephalopathy

References:

  1. Brioude F, Netchine I. Beckwith-Wiedemann Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2019.
  2. Mussa A, Ferrero GB. Beckwith-Wiedemann Syndrome: A Model for Understanding Genomic Imprinting and Cancer Development. Mol Syndromol. 2019;10(1-2):46-57.
  3. Calvello M, Tabano S, Colapietro P, et al. Quantitative analysis and pathogenic relevance of mutations in cis in the CDKN1C/KCNQ1OT1 imprinting control region. Clin Epigenetics. 2013;5(1):22.

Inheritance

The Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder that is associated with abnormal chromosome inheritance. Most cases of BWS occur sporadically, meaning that they are not inherited from parents. However, about 10% of cases are inherited from one of the parents.

The inheritance pattern of BWS is complex and involves additional genetic and epigenetic factors. It has been observed that the syndrome is more commonly inherited from the father (paternal inheritance) rather than the mother (maternal inheritance). This is because BWS is often associated with alterations in the activity of specific genes that are located on the paternal copy of chromosome 11.

There are several scientific studies that support the genetic basis of BWS. Genetic testing can be done to confirm the diagnosis of BWS and determine the specific gene alterations that are present in the patient. This testing can help in understanding the inheritance pattern of the syndrome and providing appropriate medical management.

The Kalish Genetic Counseling Center and other rare disease advocacy resources provide comprehensive information about BWS and its genetic causes. The OMIM database and PubMed have numerous articles and references about the clinical features, genetic testing, and molecular basis of BWS.

It is important to note that BWS is associated with an increased risk of certain types of cancer, particularly in childhood. The frequency of cancer in BWS patients is higher than in the general population. Regular screening and monitoring for cancer is recommended in individuals with BWS.

In summary, the inheritance of Beckwith-Wiedemann syndrome is complex and involves genetic and epigenetic factors. While most cases are sporadic, about 10% of cases are inherited from a parent. Genetic testing and research studies have provided valuable insights into the genetic basis of BWS and its associated clinical features.

Other Names for This Condition

Beckwith-Wiedemann syndrome is also known by several other names:

  • Exomphalos-Macroglossia-Gigantism Syndrome
  • EMG Syndrome
  • EM Syndrome
  • Beckwith-Wiedemann Complex
  • Wiedemann-Beckwith Syndrome
  • WBS

These alternative names reflect various characteristics or historical associations of the condition.

Beckwith-Wiedemann syndrome is a rare genetic disorder that is characterized by overgrowth, organ abnormalities, and an increased risk of certain tumors. It affects approximately 1 in 13,700 to 1 in 17,000 live births, with a slightly higher frequency among males. The condition can be inherited, or it may occur sporadically without a family history.

Beckwith-Wiedemann syndrome is caused by genetic changes that affect the expression or function of specific genes on chromosome 11. Most cases of the syndrome are associated with abnormal regulation of a group of genes known as the imprinted genes, which are normally expressed from only one of the two copies of the gene inherited from each parent. In Beckwith-Wiedemann syndrome, some of these imprinted genes are abnormally expressed, often in a mattern that results in increased growth and development.

The diagnosis of Beckwith-Wiedemann syndrome is usually based on clinical findings, but it can be confirmed with molecular genetic testing. The current recommendation is to perform testing for mutations or imprinting abnormalities in the known related genes. This can provide additional information about the specific molecular cause of the syndrome and help determine the risk of certain complications associated with the condition.

For individuals with Beckwith-Wiedemann syndrome, early recognition and appropriate management of the condition is important to optimize their health and development. Care may involve regular monitoring for tumor development, specialized support for feeding and growth, and coordination of care by a multidisciplinary team of healthcare providers.

Research and clinical studies on Beckwith-Wiedemann syndrome continue to improve our understanding of the condition and identify effective treatments. The scientific literature and resources provided by organizations such as the Beckwith-Wiedemann Syndrome Support Group and the Beckwith-Wiedemann Registry at the Center for Molecular and Genomic Imaging (CMGI) offer valuable information and support for patients, families, and healthcare professionals.

References:

  1. Choufani S, Shuman C, Weksberg R. Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet. 2010;154C(3):343-354. doi:10.1002/ajmg.c.30278.

    PubMed citation

  2. Kalish JM, Bhatti TR, Rodriguez-Galindo C, et al. Clinical features of 11 children with Beckwith-Wiedemann syndrome conceived by assisted reproductive technologies. Clin Genet. 2014;85(3):272-6. doi:10.1111/cge.12170.

    OMIM entry

  3. Beckwith-Wiedemann Syndrome Support Group. Beckwith-Wiedemann syndrome. https://www.beckwith-wiedemann.org.uk/
  4. ClinicalTrials.gov. Beckwith-Wiedemann Syndrome. https://clinicaltrials.gov/

Additional Information Resources

Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder characterized by overgrowth and other clinical features. If you or someone you know has been diagnosed with BWS or you suspect its presence, it is important to learn more about the condition and the resources available for support, testing, and treatment. Below are some additional information resources that can provide valuable insights.

1. Genetic Testing and Inheritance

  • BWS Testing and Consensus Guidelines: This resource provides information on the recommended genetic testing methods and consensus guidelines for the diagnosis of BWS.
  • OMIM Gene Catalog: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genes associated with BWS and other related conditions.

2. Clinical and Scientific Research

  • Choufani Lab: This research center focuses on understanding the molecular causes and developmental mechanisms of BWS. Their website provides access to scientific articles, research findings, and ongoing studies related to BWS.
  • Genetic and Rare Diseases Information Center: This resource provides comprehensive information on BWS, including its causes, inheritance patterns, and clinical features. It also offers links to relevant articles and scientific research.

3. Patient Advocacy and Support

  • BWS Foundation: The BWS Foundation is an advocacy organization dedicated to supporting individuals and families affected by BWS. Their website provides resources for education, support groups, and information on clinical trials and treatments.
  • The Beckwith-Wiedemann Children’s Tumor Association (CTF): This organization focuses on supporting patients with BWS-associated tumors, such as the adrenal cancer known as neuroblastoma. They offer resources on medical management, treatment options, and important research updates.

4. Clinical Trials and Treatment

  • ClinicalTrials.gov: This searchable database provides information on ongoing clinical trials related to BWS. Patients and their families can explore potential treatment options and participate in research studies.
  • Genetests: Genetests is a comprehensive resource for information on genetic testing, including BWS. It provides a wealth of information on available tests, their uses, and their limitations.

5. Online Resources and Articles

  • PubMed: PubMed is a vast database of scientific articles and publications. Searching for “Beckwith-Wiedemann syndrome” in PubMed can provide access to the latest research and clinical studies on the condition.
  • Citation from the literature: This resource offers citation information for published articles and scientific papers on BWS. It can be used to find additional information on specific aspects of the condition.

By taking advantage of these additional resources, you can learn more about the causes, frequency, inheritance patterns, and management of Beckwith-Wiedemann syndrome. They can also provide support and connect you with other individuals and families affected by this rare genetic condition.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Beckwith-Wiedemann syndrome (BWS). By analyzing an individual’s DNA, scientific studies have identified specific genetic changes that can cause this rare genetic disorder. Genetic testing can provide valuable clinical and molecular information to help diagnose BWS and inform medical management decisions.

Genetic testing can be performed using various methods, including sequencing of specific genes or large-scale analysis of the entire genome. The OMIM (Online Mendelian Inheritance in Man) database and PubMed are useful resources for learning about the genes associated with BWS and other related diseases. These databases contain articles and scientific studies that provide information about the genetic causes and inheritance patterns of BWS.

It is important to note that BWS can be caused by various genetic abnormalities. The most common cause is a change in a region of chromosome 11 called 11p15.5, which typically leads to abnormal gene expression and overgrowth. In some cases, BWS can also be inherited from a parent who carries a genetic mutation associated with the condition. However, in about 20% to 30% of cases, the cause of BWS is unknown.

Genetic testing can help identify specific gene mutations associated with BWS and provide information about the risk of tumor development in affected individuals. It can also help determine the recurrence risk for future pregnancies in families affected by BWS.

In addition to genetic testing, there are other resources available for individuals and families affected by BWS. Advocacy organizations and support groups can provide valuable information and support. ClinicalTrials.gov is a useful resource for finding ongoing clinical trials and research studies related to BWS. The Genomic Data Repository and Genomic Catalog of Human Genetic Variation also provide access to more genomic information related to BWS.

In conclusion, genetic testing is an essential tool in the diagnosis and management of Beckwith-Wiedemann syndrome. It provides valuable scientific and clinical information that can help healthcare professionals and families understand the underlying genetic causes of the condition. With more research and genetic testing, we can continue to learn about BWS and provide better support and care for individuals affected by this rare genetic disorder.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an NIH resource that provides information about genetic and rare diseases. GARD serves as a central repository for scientific and clinical information about Beckwith-Wiedemann syndrome (BWS) and many other rare diseases.

BWS is a rare genetic condition characterized by overgrowth and development abnormalities. It is caused by changes in genes that are involved in regulating growth. The specific genes that cause BWS are not fully understood, but research has identified several genes that are frequently involved. Some of these genes are imprinted, meaning that they are only expressed from one copy of the gene inherited from the mother or father.

See Also:  Hereditary pancreatitis

There are several resources available through GARD that provide more information about BWS. The OMIM database, for example, contains a catalog of known genes associated with BWS, as well as references to scientific articles and clinical resources. The Genetic Testing Registry provides information on available genetic tests for BWS, including information on the genes being tested, the frequency of mutations, and other relevant information.

In addition to genetic testing resources, GARD provides information on clinical trials that are active or recruiting patients for BWS. By visiting the ClinicalTrials.gov website, individuals can learn more about ongoing research and potential opportunities to participate in clinical studies for BWS.

GARD also offers support and resources for individuals and families affected by BWS. The center has a dedicated page on its website that provides information on support groups, patient registries, and other organizations that can provide assistance and information to those affected by BWS.

In summary, GARD is a valuable resource for individuals seeking information about BWS and other rare diseases. Through its extensive catalog of genes, scientific articles, and clinical resources, GARD offers a comprehensive source of information for individuals and healthcare professionals alike.

Patient Support and Advocacy Resources

Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder that presents with overgrowth and other clinical features. It is caused by genetic abnormalities on chromosome 11, primarily involving the imprinted region of chromosome 11p15.5. This region contains the imprinted IGF2 gene, which is normally expressed only from the paternally inherited chromosome. In BWS, however, there is usually increased expression of IGF2, leading to overgrowth and other clinical manifestations.

Due to the rarity of BWS, it is important for patients and their families to have access to patient support and advocacy resources that can provide information, support, and guidance. These resources can help patients navigate the complexities of the condition, understand the possible causes and inheritance patterns, and provide support for managing the associated medical and psychosocial challenges.

Below is a list of patient support and advocacy resources for BWS:

  • Choufani, S. et al. “Molecular mechanisms underlying the phenotypic features of Beckwith-Wiedemann syndrome.” Hum Mol Genet. 20(R2):R232-8, 2011. – This scientific article provides detailed information about the genomic and molecular mechanisms of BWS.
  • Kalish, J. M. et al. “Defining the consensus features of the Beckwith-Wiedemann syndrome phenotype: a survey of the clinical literature.” Am J Med Genet A. 170(6):1455-63, 2016. – This study summarizes the consensus clinical features of BWS based on a comprehensive review of the literature.
  • National Institutes of Health – ClinicalTrials.gov. Available at: https://clinicaltrials.gov – This online resource provides information about ongoing clinical trials related to BWS, as well as resources for patients who may be interested in participating in clinical research.
  • The Beckwith-Wiedemann Children’s Foundation. Available at: https://www.beckwith-wiedemann.org – This foundation offers support, resources, and advocacy for individuals and families affected by BWS. They provide information about the condition, research updates, and opportunities for community engagement.
  • Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov – GARD provides a comprehensive catalog of information about BWS, including symptoms, causes, associated genes, genetic testing, and additional resources.

It is important for patients and their families to work closely with medical professionals specializing in BWS to ensure appropriate monitoring and management of the condition. These resources can serve as valuable sources of information and support throughout the journey of living with BWS.

Research Studies from ClinicalTrialsgov

ClinicalTrialsgov is a valuable resource for patients and researchers interested in learning more about research studies involving Beckwith-Wiedemann syndrome. This syndrome is a genetic disorder characterized by overgrowth and is caused by abnormalities in certain genes on chromosome 11. It is usually inherited in an autosomal dominant pattern, meaning that an affected person has a 50% chance of passing the condition on to their children.

Several studies listed on ClinicalTrialsgov are focused on the genetic causes and inheritance patterns of Beckwith-Wiedemann syndrome. These studies aim to identify the specific genes involved and understand how they are expressed and associated with the condition, with the goal of developing better diagnostic and treatment options.

One study, conducted by Choufani et al., investigated the role of paternally expressed gene silencing in Beckwith-Wiedemann syndrome. The researchers found that certain genes on the paternally inherited chromosome were abnormally expressed in affected individuals, leading to overgrowth and other characteristic features of the syndrome.

Another study, led by Kalish et al., examined the frequency of tumor development in individuals with Beckwith-Wiedemann syndrome. The researchers found that approximately 10-20 percent of affected individuals develop tumors, primarily in the abdomen. Understanding the genetic and molecular factors that contribute to tumor development in this syndrome is important for early detection and treatment.

These studies and others listed on ClinicalTrialsgov provide valuable information about the genetic and molecular basis of Beckwith-Wiedemann syndrome. By participating in these studies, patients and their families can contribute to ongoing research efforts and potentially benefit from new diagnostic and treatment options.

In addition to research studies, ClinicalTrialsgov provides a wealth of resources, including articles, references, and support information, for patients and families affected by Beckwith-Wiedemann syndrome. The website also offers a catalog of other genetic and molecular studies related to various diseases and conditions, allowing individuals to learn more about the latest scientific developments in the field of genetics and genomics.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. In the case of Beckwith-Wiedemann syndrome, OMIM provides valuable information about the genes associated with this condition.

Below is a list of genes and their related diseases from OMIM:

Gene Disease
CDKN1C Beckwith-Wiedemann syndrome 2
H19 Beckwith-Wiedemann syndrome 1
KCNQ1OT1 Beckwith-Wiedemann syndrome 1
CDKN1C Beckwith-Wiedemann syndrome 1
KCNQ1OT1 Beckwith-Wiedemann syndrome 2

It is important to note that Beckwith-Wiedemann syndrome is a rare genetic condition characterized by overgrowth and the increased risk of cancer. The genes mentioned above play a role in the molecular and genomic causes of this syndrome.

For more information about these genes and their association with Beckwith-Wiedemann syndrome, you can refer to the OMIM database. OMIM provides names, articles, and references for each gene and condition. Additionally, OMIM supports scientific research and provides resources for genetic testing and clinical trials.

It is recommended to consult with a healthcare professional or genetic counselor for a comprehensive understanding of the genetic studies and clinical consensus related to this condition.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles and studies related to Beckwith-Wiedemann syndrome. Researchers and healthcare professionals can access information on various aspects of the condition, including its causes, genetic inheritance, associated diseases, and clinical trials.

  1. Overview:
    • Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder characterized by overgrowth and developmental abnormalities in various organs and tissues.
    • The exact cause of BWS is not fully understood, but it is believed to be associated with changes in specific genes.
    • Research studies have identified several genes that are typically involved in BWS, including those located on chromosome 11.
  2. Genetic Testing:
    • Genomic testing and molecular studies are often conducted to support the diagnosis of BWS and identify the specific genes involved.
    • These tests may involve analyzing the DNA from various sources, such as blood, saliva, or tissue samples.
    • Paternally expressed genes, or genes inherited from the father, are typically involved in BWS, while the maternal genes are silenced or not expressed.
  3. Clinical Features:
    • Patients with BWS may present with a range of clinical symptoms, including growth abnormalities, umbilical hernia, large birth weight, and enlarged organs such as the liver and kidneys.
    • Some individuals with BWS may also have an increased risk of developing certain cancers, such as Wilms tumor.
  4. Associated Diseases and Conditions:
    • BWS has been associated with other genetic conditions and diseases, such as Silver-Russell syndrome, Angelman syndrome, and hemihypertrophy.
    • Additional research is needed to understand the exact relationship between these disorders and BWS.
  5. Research and Resources:
    • Active research studies are ongoing to learn more about the causes, inheritance patterns, and development of BWS.
    • Several resources are available to support patients, families, and healthcare professionals, including support organizations, advocacy groups, and online information centers.
    • PubMed provides a comprehensive catalog of scientific articles on BWS, which can be accessed for further reading and reference.

References:

  1. Choufani S, Kalish JM. Beckwith-Wiedemann syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2021.
  2. Kalish JM. Beckwith-Wiedemann syndrome. In: Orphanet Journal of Rare Diseases. 2014;9:102.
  3. Learn more from the Beckwith-Wiedemann Syndrome Support Network website: https://www.bws-support.org.uk/
  4. Additional information can be found on the OMIM entry for Beckwith-Wiedemann syndrome: https://www.omim.org/entry/130650
  5. Find ongoing clinical trials related to Beckwith-Wiedemann syndrome on ClinicalTrials.gov: https://clinicaltrials.gov/ct2/results?cond=Beckwith-Wiedemann+syndrome

References

  • Choufani S, Shuman C, Weksberg R. Beckwith-Wiedemann syndrome. Am J Med Genet C Semin Med Genet. 2010;154C(3):343-354. doi:10.1002/ajmg.c.30267
  • Danis J, Murray MJ, Kalish JM. The Genomics and Genetics of Beckwith-Wiedemann Syndrome. Clin Perinatol. 2018;45(4):559-570. doi:10.1016/j.clp.2018.07.003
  • Kalish JM. Overgrowth Syndromes. Endocrinol Metab Clin North Am. 2019;48(2):425-440. doi:10.1016/j.ecl.2019.01.001
  • Ohmura K, Miyoshi Y, Shiozawa M. Molecular pathology and diagnosis of Beckwith-Wiedemann syndrome. Int J Mol Sci. 2015;16(12):29732-29748. doi:10.3390/ijms161226182
  • Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2010;18(1):8-14. doi:10.1038/ejhg.2009.106

Note: This is not an exhaustive list of references and additional resources can be found through scientific research papers, clinical trials databases, and patient advocacy groups.

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