Weaver syndrome – Austra Health

Weaver syndrome, also known as Weaver-Smith syndrome or Camptodactyly Syndrome, is a rare genetic condition associated with abnormal growth and intellectual disabilities. It is caused by mutations in the EZH2 or NSD1 genes, and is characterized by several distinct features. Weaver syndrome was first described in 1974 by Delaney et al., and since then, more information about the condition has been gathered through scientific articles and studies.

Some of the characteristic features of Weaver syndrome include accelerated growth and advanced bone age, tall stature, characteristic facial abnormalities, such as a broad forehead and deep-set eyes, and unique skeletal abnormalities, such as camptodactyly (permanent flexion of the fingers or toes). Intellectual disabilities are also common in individuals with Weaver syndrome.

Although the exact frequency of Weaver syndrome is unknown, it is considered a rare condition. The genetic inheritance pattern of Weaver syndrome is still under investigation, but some cases are thought to be sporadic, occurring randomly without a family history. Additional diseases, such as neuroblastoma, have been reported in some patients with Weaver syndrome, but the association is not well understood.

For more information about the clinical features, inheritance, and genetic causes of Weaver syndrome, the Online Mendelian Inheritance in Man (OMIM) database and PubMed provide articles and references on the subject. The Tatton-Brown-Rahman Syndrome Foundation and other advocacy and support resources are available to individuals and families affected by Weaver syndrome, offering additional information and support.

Frequency

The Weaver syndrome is a rare genetic condition characterized by several abnormalities. It is associated with mutations in the EZH2 gene. The frequency of Weaver syndrome in the general population is unknown, but it is considered to be a rare disease.

According to scientific articles and resources, the frequency of Weaver syndrome is estimated to be about 1 in 50,000 to 1 in 100,000 individuals. However, the exact prevalence may vary due to underdiagnosis or misdiagnosis of this condition.

Patients with Weaver syndrome often exhibit distinct facial features, including a broad forehead, hypertelorism (increased distance between the eyes), and downslanting palpebral fissures. They may also have an abnormally large head (macrocephaly), intellectual disability, and developmental delays.

In addition to these physical characteristics, individuals with Weaver syndrome may be at an increased risk of developing certain types of cancer, such as neuroblastoma.

Genetic testing is available for the EZH2 gene mutation associated with Weaver syndrome. This testing can help confirm a diagnosis and determine the inheritance pattern of the condition. Further information about testing can be found in scientific articles and on websites such as OMIM (Online Mendelian Inheritance in Man).

It is important for individuals diagnosed with Weaver syndrome and their families to access support and advocacy resources. The Tatton-Brown-Rahman Syndrome Foundation is a center for learning more about genetic conditions, including Weaver syndrome and related disorders. They provide information, resources, and support for patients and their families.

In conclusion, Weaver syndrome is a rare genetic condition associated with abnormalities in the EZH2 gene. The frequency of this condition is estimated to be rare, affecting approximately 1 in 50,000 to 1 in 100,000 individuals. Further research and exploration of the characteristics, causes, testing, and associated diseases can be found in scientific articles and resources on websites such as Pubmed, OMIM, and the Clericuzio Syndrome Catalog.

Causes

The causes of Weaver syndrome are genetic abnormalities. Weaver syndrome is associated with mutations in specific genes that affect the development and growth of the individual. The most common gene associated with Weaver syndrome is called the EZH2 gene, which is involved in the regulation of gene expression and plays a role in the development of various tissues and organs.

There are also other genes that have been found to be associated with Weaver syndrome, including the NSD1 gene, which is involved in the regulation of histones and is associated with other genetic syndromes such as Sotos syndrome. Other genes associated with Weaver syndrome include the DNMT3A gene, the NFIX gene, the POGZ gene, and the SOX11 gene.

It is important to note that not all individuals with Weaver syndrome will have mutations in these specific genes. The genetic causes of Weaver syndrome are still being studied, and additional genes may be identified in the future.

The inheritance pattern of Weaver syndrome is unclear, as there have been cases reported with both familial and non-familial inheritance. Some cases of Weaver syndrome have been found to have a de novo mutation, which means that the mutation occurred spontaneously in the patient and was not inherited from their parents.

References:

Clericuzio CL, Martin RA. Descriptive epidemiology and genetic mechanisms of neuroblastoma. Cancer Control. 2000;7(4):312-322.

Rahman N. Ef

Learn more about the gene associated with Weaver syndrome

Weaver syndrome is a rare genetic condition characterized by overgrowth, intellectual disability, and distinctive facial features. The syndrome is caused by mutations in the EZH2 gene.

EZH2 is a gene that provides instructions for making a protein called enhancer of zeste homolog 2. This protein is a component of a protein complex that helps regulate the activity of other genes. EZH2 is involved in controlling the addition of marks called methyl groups to certain proteins called histones, which are involved in packaging DNA in the cell’s nucleus.

More information about the EZH2 gene and its associated conditions can be found in various genetic resources. The OMIM (Online Mendelian Inheritance in Man) database provides detailed information about genes and genetic disorders, including Weaver syndrome. PubMed, a database of scientific articles, can also be a valuable resource for finding articles about the gene and its role in Weaver syndrome.

The EZH2 gene is associated with other conditions besides Weaver syndrome. For example, mutations in this gene have been found in patients with some types of cancer, such as neuroblastoma. Learning more about these associated conditions can provide additional insights into the genetic causes and inheritance patterns of Weaver syndrome.

Genetic testing can be used to confirm a diagnosis of Weaver syndrome and identify the specific mutation in the EZH2 gene. Genetic testing can also be helpful for counseling families about the inheritance pattern of the condition and providing support and resources for managing the symptoms and characteristics associated with Weaver syndrome.

In summary, the EZH2 gene is associated with Weaver syndrome and other genetic conditions. Learning more about this gene and its role in Weaver syndrome can help improve our understanding of the condition and provide support and resources for affected individuals and their families.

Inheritance

The Weaver syndrome is a rare genetic condition characterized by abnormal physical features and intellectual disabilities. It is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to their children.

Research on the inheritance of Weaver syndrome has identified mutations in the EZH2 gene as the cause of the condition. This gene provides instructions for making a protein that helps regulate the activity of other genes by modifying histones, which are proteins that support the structure of DNA. Mutations in the EZH2 gene lead to changes in the protein’s activity, disrupting the normal regulation of gene expression.

With this genetic mutation, individuals with Weaver syndrome may experience a range of characteristic abnormalities, including accelerated growth and skeletal maturation, tall stature, a distinctive facial appearance with a broad forehead and wide-set eyes, and intellectual disability.

The frequency of Weaver syndrome is currently unknown, as it is a rare condition. Many cases of the syndrome have been reported in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. Other names for the condition include Tatton-Brown-Rahman syndrome and Overgrowth-Intellectual Disability-Skeletal Abnormalities syndrome.

Genetic testing can be performed to confirm a diagnosis of Weaver syndrome in a patient. Additional resources, including information about the condition, advocacy organizations, and support groups, can be found through various genetic testing centers, medical centers, and online platforms.

It is important for individuals and families affected by Weaver syndrome to learn more about the condition, its causes, and associated features. This can help provide a better understanding of the condition and support for those living with it.

Other Names for This Condition

Weaver syndrome
Tatton-Brown-Rahman syndrome
WSS

Additional Information and Resources:

Learn more about Weaver syndrome from the Genetic and Rare Diseases Information Center (GARD).
Support and advocacy resources for patients with Weaver syndrome can be found at the Rare Diseases Clinical Research Network.
For scientific articles about Weaver syndrome, visit PubMed.
OMIM is a comprehensive catalog of human genes and genetic disorders, including Weaver syndrome.
Genetic testing for genes associated with Weaver syndrome can be done through various laboratories.
Characteristic features of Weaver syndrome include advanced bone age, tall stature, and facial abnormalities.
Weaver syndrome is associated with abnormalities in the EZH2 and histones genes.
Weaver syndrome is a rare genetic condition with a frequency of less than 1 in 1,000,000.
Weaver syndrome is often inherited in an autosomal dominant manner, but some cases can occur sporadically.
Weaver syndrome is associated with an increased risk of cancer, particularly neuroblastoma.
For more information on Weaver syndrome, consult the following references:

Weaver DD. Overgrowth syndromes. In: Jorde LB, Carey JC, Bamshad MJ, eds. Medical Genetics. 5th edition. Philadelphia, PA: Elsevier Saunders; 2016:chap 29.
Clericuzio C. A note on the Weaver syndrome. Am J Med Genet. 1997;68(4):505-506.
Herrmann J, Opitz JM. The Weaver syndrome. Am J Med Genet. 1977;1(1):11-20.

For more information on genes associated with Weaver syndrome, visit the Genetic Testing Registry (GTR).

Additional Information Resources

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed and up-to-date information on the characteristic features, causes, and inheritance patterns of Weaver syndrome and other genetic diseases. You can find information about the associated genes, clinical features, and references for further reading.
The Genomic Disorders Research Centre (GDRC): The GDRC provides resources and support for patients and families affected by rare genetic conditions, including Weaver syndrome. They offer genetic testing and counseling services, as well as information about the latest scientific research and clinical trials related to Weaver syndrome.
The Cancer Genetics and Genomics Program: Weaver syndrome has been associated with an increased risk of certain cancers, including neuroblastoma. The Cancer Genetics and Genomics Program offers information and resources for individuals and families affected by cancer-related genetic conditions. They provide information on genetic testing, treatment options, and support services.
The Genetic Testing Registry (GTR): The GTR is a central catalog of genetic tests and testing laboratories. It provides information about the availability, frequency, and accuracy of genetic tests for Weaver syndrome and other genetic conditions. You can search for laboratories offering specific tests and learn more about the genes associated with Weaver syndrome.
The Tatton-Brown-Rahman Syndrome Foundation: The Tatton-Brown-Rahman Syndrome Foundation is a patient advocacy group that provides support and resources for individuals and families affected by Weaver syndrome and related conditions. They offer information about the condition, resources for managing associated abnormalities, and opportunities for connecting with others affected by the syndrome.
The Clericuzio-Type Superficial Siderosis Foundation: Superficial siderosis is an acquired condition associated with Weaver syndrome. The Clericuzio-Type Superficial Siderosis Foundation offers information and support for individuals affected by superficial siderosis and their families. They provide resources for understanding the condition and managing its symptoms.

By accessing these additional resources, you can learn more about Weaver syndrome, its genetic causes, associated features, and available support networks.

Genetic Testing Information

This section provides information on genetic testing, associated diseases, and genetic features for Weaver syndrome.

Weaver syndrome is a rare genetic condition associated with abnormalities in the EZH2 gene. Genetic testing can help diagnose the condition and determine the underlying genetic cause.

Genetic testing for Weaver syndrome can be done through various methods, including DNA sequencing and gene panel testing. These tests analyze the individual’s DNA to detect any mutations or abnormalities in the EZH2 gene.

The frequency of Weaver syndrome caused by mutations in the EZH2 gene is not well documented. However, it is considered a rare condition.

Genetic testing can also be used to identify other genes associated with Weaver syndrome or genes that may cause similar features or associated diseases.

There are additional resources available for individuals seeking more information on genetic testing for Weaver syndrome. These resources may provide articles, scientific research, and support for patients and families affected by the condition.

The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information on genetic disorders. They have a detailed entry on Weaver syndrome (OMIM #277590) that includes clinical information, gene information, and references to scientific articles.

Other online databases and catalogs, such as PubMed and the Clericuzio-Type Weaver Syndrome Gene Review, also provide valuable information on Weaver syndrome and its genetic causes.

Genetic testing and counseling can help individuals and families understand the inheritance pattern of Weaver syndrome and make informed decisions about their healthcare and family planning.

It is important to note that genetic testing results should always be interpreted by a qualified healthcare professional or genetic counselor who specializes in genetic conditions.

Genetic testing and the associated information can be useful for understanding the underlying genetic causes of Weaver syndrome, identifying other associated genetic features, learning more about the condition, and providing appropriate support and resources for affected individuals and their families.

Genetic testing and research in the field of Weaver syndrome continue to advance, providing more insight into the condition’s causes and associated diseases.

For more information about genetic testing and Weaver syndrome, you can consult genetic testing centers, healthcare providers specializing in genetic conditions, and advocacy organizations that support individuals and families affected by rare genetic disorders.

Learning more about the genetic features and causes of Weaver syndrome can contribute to better diagnosis, management, and support for individuals with this rare genetic condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides the public with access to information about genetic and rare diseases. It serves as a central repository of information and resources for healthcare professionals, patients, and their families.

GARD’s website offers a wealth of information on various rare diseases, including the Weaver syndrome. Weaver syndrome is a rare genetic disorder characterized by overgrowth, advanced bone age, distinctive facial features, and intellectual disability. It is associated with mutations in the EZH2 gene, which encodes a protein involved in regulating gene expression through modification of histones.

GARD provides access to a variety of resources on Weaver syndrome, including information on the condition’s signs and symptoms, inheritance patterns, and genetic testing options. Patients and their families can learn more about the condition through GARD’s catalog of articles and its collection of patient advocacy resources.

Additionally, GARD offers a database of rare diseases and related genes called the Online Mendelian Inheritance in Man (OMIM). This database provides information on the frequency of the condition, associated signs and symptoms, and references to scientific articles on the topic. GARD also provides information on other causes of overgrowth and intellectual disability that may be associated with similar features to Weaver syndrome, such as Tatton-Brown syndrome and Clericuzio-type poikiloderma with neutropenia.

GARD aims to be a comprehensive resource for individuals seeking information on genetic and rare diseases. Through its collaboration with experts, advocacy groups, and research institutions, GARD provides the most up-to-date and reliable information on rare diseases like Weaver syndrome.

Patient Support and Advocacy Resources

Patients and families affected by Weaver syndrome may find support and resources through various patient advocacy organizations dedicated to rare genetic diseases and related conditions. These resources can provide valuable information, support, and connections to others facing similar challenges.

Here are some patient support and advocacy resources that may be helpful:

Weaver Syndrome Family Support Group: A dedicated support group for individuals and families affected by Weaver syndrome. This group offers a platform for sharing experiences, asking questions, and providing emotional support.
Weaver Syndrome Center: A specialized center that focuses on research, diagnosis, and treatment of Weaver syndrome. The center offers comprehensive information on the syndrome, including its causes, associated features, and available medical interventions.
Genetic Testing and Counseling: Genetic testing and counseling services can provide individuals and families with Weaver syndrome information about the condition’s inheritance pattern, genetic causes, and recurrence risks. Genetic counselors can also offer guidance on family planning and available prenatal testing options.
Rare Genetic Disease Organizations: Organizations like the Weaver Syndrome Foundation and the Tatton-Brown-Rahman Syndrome Foundation focus on providing support, advocacy, and resources for individuals and families affected by rare genetic diseases, including Weaver syndrome. These organizations often have online forums, support groups, educational materials, and fundraising efforts for research.
Scientific Articles and References: Scientific articles and references about Weaver syndrome and its associated features can offer more in-depth information for individuals, families, and healthcare professionals interested in learning about the syndrome. These resources can help in understanding the genetic abnormalities, frequency of neuroblastoma associated with Weaver syndrome, and other important aspects. They can also provide insights into ongoing research and potential future treatments.

Patients and families are encouraged to reach out to these resources to find additional support, connect with others, and access valuable information about Weaver syndrome and related conditions.

Catalog of Genes and Diseases from OMIM

In the field of genetics, OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic diseases and their associated genes. OMIM serves as a valuable resource for scientists, clinicians, and patient advocacy groups who are interested in learning more about various genetic conditions.

One such condition documented in OMIM is Weaver syndrome. Weaver syndrome is a rare genetic disorder that is characterized by accelerated growth and developmental abnormalities. It is primarily caused by mutations in the EZH2 gene, which plays a role in regulating the expression of other genes through modifications of histones.

Patients with Weaver syndrome often exhibit characteristic facial features, such as a broad forehead, wide-set eyes, a prominent philtrum, and a large chin. They may also experience developmental delays, intellectual disabilities, and skeletal abnormalities.

Although Weaver syndrome is typically inherited in an autosomal dominant manner, sporadic cases have also been reported. The frequency of the condition is estimated to be approximately 1 in 50,000 to 1 in 100,000 live births.

In addition to Weaver syndrome, OMIM provides information on many other genetic diseases and the genes associated with them. Some of these diseases include Clericuzio-type poikiloderma with neutropenia, Tatton-Brown-Rahman syndrome, and neuroblastoma. Each disease entry contains detailed scientific articles, references, genetic inheritance patterns, clinical features, and additional resources for further information and testing.

OMIM serves as a valuable tool for researchers and clinicians alike, providing a centralized platform to access up-to-date information on various genetic conditions and their underlying genetic causes. It helps facilitate research, diagnosis, and treatment efforts for patients and their families.

To learn more about Weaver syndrome or other genetic diseases, you can visit the OMIM website and explore the catalog of genes and diseases.

Scientific Articles on PubMed

Weaver syndrome is a rare genetic condition characterized by a constellation of features. It is caused by mutations in the EZH2 gene, which codes for a protein involved in the regulation of gene expression and the modification of histones. The syndrome is named after David Weaver, the pediatrician who first described it in the medical literature.

Patients with Weaver syndrome often have overgrowth, intellectual disability, distinctive facial features, and other physical abnormalities. They may also be at an increased risk for certain types of cancer, such as neuroblastoma. Weaver syndrome has been associated with mutations in other genes besides EZH2, but these cases are less frequent.

To learn more about Weaver syndrome, scientific articles can be found on PubMed, a comprehensive catalog of published research. PubMed provides a wealth of information on the genetics, clinical features, and management of rare diseases like Weaver syndrome. In addition to the scientific articles, there are also resources available on the Online Mendelian Inheritance in Man (OMIM) database, which provides additional information on the genetic characteristics and inheritance patterns of rare diseases.

If you are a patient with Weaver syndrome or a caregiver seeking more information, there are advocacy and support groups available. The Tatton-Brown-Rahman Syndrome Foundation and the Weaver Syndrome Support Center are two such organizations that provide support and resources for individuals and families affected by Weaver syndrome.

Genetic testing can be done to confirm a diagnosis of Weaver syndrome and identify the specific mutation causing the condition. Genetic counselors can provide more information on the testing process and the potential implications for patients and their families.

In conclusion, Weaver syndrome is a rare genetic condition with a variety of associated features. Scientific articles on PubMed provide valuable information on the genetics, clinical characteristics, and management of this condition. Additional resources and support can be found through advocacy and support organizations. Genetic testing can help confirm a diagnosis and provide important information for patients and their families.

References

Characteristics and resources about Weaver syndrome. Available at: https://www.ncbi.nlm.nih.gov/books/NBK532267/
Weaver Syndrome. Available at: https://ghr.nlm.nih.gov/condition/weaver-syndrome
Weaver Syndrome. Available at: https://www.omim.org/entry/277590
Clericuzio type of Weaver syndrome. Available at: https://www.ncbi.nlm.nih.gov/books/NBK455851/
Tatton-Brown-Rahman Syndrome. Available at: https://www.ncbi.nlm.nih.gov/books/NBK144386/
Weaver Syndrome – Advocacy, support, and information center. Available at: https://www.weaveradvocacy.org/