Boomerang dysplasia

Boomerang dysplasia is a rare genetic condition that affects the differentiation and growth of bone cells in the patient. This condition is associated with additional skeletal abnormalities and can be life-threatening for the affected individual. Boomerang dysplasia is caused by mutations in the FLNB gene, which helps with the development and maintenance of the skeletal system.

The name “boomerang dysplasia” comes from the characteristic shape of the ribs in affected individuals, which resemble a boomerang. This condition is so rare that there are only a few reported cases documented in scientific literature.

Boomerang dysplasia is inherited in an autosomal dominant manner, which means that a person with a mutation in the FLNB gene has a 50% chance of passing it on to their children. It is important for patients and their families to seek genetic testing and counseling to better understand the inheritance pattern and risks associated with this condition.

For more information about boomerang dysplasia and other rare genetic diseases, there are additional resources available. The National Organization for Rare Disorders (NORD) and Genetic and Rare Diseases Information Center (GARD) provide support and advocacy for affected individuals and their families. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are valuable sources for scientific articles, references, and frequency data on this condition.

Frequency

Boomerang dysplasia is a rare condition, with only a few reported cases in the medical literature. The exact frequency of the condition is unknown, as it is likely underdiagnosed. Testing for boomerang dysplasia is not widely available, and there are currently no specific resources or references for information on the frequency of the condition.

However, several articles on boomerang dysplasia can be found on PubMed, a scientific research database. These articles provide more information about the condition and can help interested individuals learn more about the genetic causes and inheritance of boomerang dysplasia.

One gene that has been associated with boomerang dysplasia is the FLNB gene. Mutations in this gene have been found in affected individuals, and further research is being conducted to understand how these mutations lead to boomerang dysplasia.

As boomerang dysplasia is a rare and typically lethal condition, there may be limited support, advocacy, and patient resources available. However, contacting a rare disease center or genetic information center may provide additional information and support for affected individuals and their families.

Causes

The causes of Boomerang dysplasia are usually genetic. This rare condition is typically associated with mutations in the

STAT3 gene.

These mutations have been identified in the Boomerang dysplasia genetic catalog, which is a network of information

resources for rare diseases. Genes in this catalog are typically associated with disorders characterized by skeletal

dysplasia. They have shown to play a role in the differentiation and development of bone cells.

The inheritance pattern of Boomerang dysplasia is not well understood. However, in some cases, the condition

has been seen to be transmitted in an autosomal recessive manner. This means that both parents of an affected patient

carry a mutated gene for Boomerang dysplasia.

Additional research on the causes of Boomerang dysplasia is ongoing. Scientific articles published on PubMed, the

premier online database for medical research, provide more information about this rare condition. The advocacy

center for rare diseases, OMIM, also offers resources and support for patients and their families.

Testing for Boomerang dysplasia can be performed to confirm a diagnosis. This can involve genetic testing to look for

mutations in the STAT3 gene. Further genetic counseling and testing may also be recommended for affected individuals and

their families.

References:

• Danek, M.G., Brown, V.K., Gentry, M. et al. (2010). Boomerang dysplasia: a novel skeletal dysplasia born of
  consanguinity identifies a pleiotropic role for digital development. Am J Med Genet A, 152A(5):1182-1189.
• Guerrini, M.M., Meyer, T.S., Mortier, G.R. et al. (1999). Boomerang dysplasia: prenatal diagnosis, pathology, and
  pathogenesis. Am J Med Genet, 86(6):459-465.

Learn more about the gene associated with Boomerang dysplasia

Boomerang dysplasia is a rare and severe skeletal disorder that is typically caused by mutations in the FLNB gene. The FLNB gene provides instructions for making the protein filamin B, which plays a critical role in the development and maintenance of the skeleton.

Mutations in the FLNB gene can disrupt normal bone development, leading to the characteristic features of Boomerang dysplasia. This condition is characterized by abnormal bone growth, particularly in the long bones of the arms and legs. It also affects the ribs, spine, and other bones, leading to severe skeletal abnormalities.

Boomerang dysplasia is thought to be inherited in an autosomal dominant pattern, which means that a mutation in one copy of the FLNB gene is sufficient to cause the condition. However, most cases are caused by de novo mutations, which occur for the first time in the affected individual’s family.

Testing for mutations in the FLNB gene can help confirm a diagnosis of Boomerang dysplasia. Genetic testing can also help determine the inheritance pattern and provide information for family planning. Additionally, genetic testing can be used to differentiate Boomerang dysplasia from other conditions with similar features.

If you or someone you know has been affected by Boomerang dysplasia, there are resources available to provide support and information. The National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD) are excellent sources of information on rare diseases like Boomerang dysplasia. There are also advocacy networks and patient support organizations that can provide additional resources and support.

For more scientific articles on the genes associated with Boomerang dysplasia, you can refer to the PubMed and OMIM databases. These databases contain a wealth of information on genetic conditions and can help you learn more about the specific genes and mutations associated with Boomerang dysplasia.

References:

• Boomerang dysplasia. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/boomerang-dysplasia
• Boomerang dysplasia. National Organization for Rare Disorders (NORD). Retrieved from https://rarediseases.org/rare-diseases/boomerang-dysplasia/
• Boomerang dysplasia. Genetic and Rare Diseases Information Center (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/280/boomerang-dysplasia
• FLNB gene. OMIM. Retrieved from https://omim.org/entry/603381
• FLNB gene. PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=FLNB+gene

Inheritance

Boomerang dysplasia is a rare genetic condition. The inheritance pattern of this condition is autosomal recessive. This means that both parents must carry a copy of the mutated gene in order for their child to be affected by the condition. When both parents are carriers, each child has a 25% chance of inheriting boomerang dysplasia.

The exact genetic causes of boomerang dysplasia are not fully understood. However, it is known that mutations in the FLNB gene are associated with this condition. The FLNB gene provides instructions for making a protein that is involved in the development and differentiation of cells. Mutations in this gene disrupt the normal development of bones and other tissues, leading to the characteristic features and symptoms of boomerang dysplasia.

Further research is ongoing to learn more about the genetic basis of boomerang dysplasia. The Online Mendelian Inheritance in Man (OMIM) database provides additional information about the FLNB gene and its association with boomerang dysplasia.

Genetic testing can be done to confirm a diagnosis of boomerang dysplasia in an affected patient. This testing can help to identify mutations in the FLNB gene, supporting the diagnosis. It can also be useful for genetic counseling and providing information to other family members who may be at risk of inheriting the condition.

Patient advocacy groups and support networks can provide additional resources and information about boomerang dysplasia. Scientific articles and publications can be found on websites such as PubMed and OMIM, which catalog information about rare diseases and genetic conditions. These resources can help patients, families, and healthcare professionals learn more about boomerang dysplasia and its causes.

References:

• Online Mendelian Inheritance in Man (OMIM): FLNB Gene
• PubMed: Boomerang Dysplasia
• Genetic Testing Registry: FLNB
• Advocacy groups and patient support networks
• Scientific articles and publications

Other Names for This Condition

Boomerang dysplasia is also known by other names, including:

• Boomerang syndrome
• Boomerang-shaped dysplasia
• Boomerang-shaped dysplasia with cortical stress fractures
• Boomerang-shaped dysplasia syndrome
• FLNB-related infantile cortical hyperostosis
• FLNB-related rigid bone dysplasia

These names describe the same condition with different variations. Learning about the other names for this condition helps with understanding the rare genetic disease and its associated symptoms, causes, genetic inheritance, and more. Pubmed is a helpful resource to find additional scientific articles and information about Boomerang dysplasia and related genes.

Additional Information Resources

For additional information about Boomerang dysplasia, the following resources may be helpful:

• Testing and Genetic Information: You can learn more about genetic testing and gene names associated with Boomerang dysplasia from resources such as OMIM and GeneTests.
• Advocacy and Support: There are advocacy groups and support networks available for rare conditions like Boomerang dysplasia. They can provide additional information, resources, and support for affected patients and their families.
• Differentiation from Other Conditions: Boomerang dysplasia shares some similarities with other genetic conditions. Consulting scientific articles and references can help differentiate it from other diseases.
• Causes and Frequency: Scientific literature can provide insights into the causes, inheritance patterns, and frequency of Boomerang dysplasia.
• Additional Information Catalog: The National Center for Biotechnology Information (NCBI) provides a wealth of information on rare diseases, including Boomerang dysplasia, through its resources like PubMed and OMIM.

These resources can help you learn more about Boomerang dysplasia and navigate the genetic and scientific information surrounding this rare condition.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis of Boomerang dysplasia, a rare genetic disorder. It helps identify the specific genetic changes that are responsible for causing the condition. Testing for Boomerang dysplasia is typically done using molecular genetic testing methods, such as sequencing the FLNB gene.

The FLNB gene, which stands for filamin B, is the only known gene associated with Boomerang dysplasia. Mutations in this gene disrupt the normal development and differentiation of bone and cartilage cells, leading to the characteristic features of the condition.

Genetic testing can be performed to confirm a diagnosis in an affected individual and to provide information about the inheritance pattern of the condition in the family. It can also help differentiate Boomerang dysplasia from other rare diseases with similar clinical features.

Additional information about genetic testing for Boomerang dysplasia can be found in scientific literature. PubMed, a database of biomedical articles, is a valuable resource for finding research articles and references about this condition. OMIM, the Online Mendelian Inheritance in Man database, provides detailed information about the FLNB gene and its associated disorders.

Genetic testing for Boomerang dysplasia is not widely available due to its rarity. It is typically offered by specialized genetic testing centers or research institutions with expertise in rare genetic diseases. Genetic counseling and support can also be obtained from advocacy organizations and support networks for rare diseases.

It is important to note that the frequency and information available about Boomerang dysplasia may change over time as new research and discoveries are made. Therefore, staying updated on the latest scientific findings and resources is crucial for proper management and support for individuals affected by this condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource that provides information about rare genetic diseases to patients, healthcare professionals, and the general public. GARD helps individuals better understand their condition and provides support and resources for those affected by rare diseases.

GARD provides information about the frequency, inheritance, causes, and associated genes of rare diseases. This includes information on Boomerang dysplasia, a rare genetic condition. Boomerang dysplasia is typically associated with mutations in the FLNB gene.

GARD offers a variety of resources for patients and their families, including information on testing and diagnosis, advocacy groups, and available treatments. GARD also provides information on other genetic conditions and can help patients find additional support networks and resources.

For more scientific information about Boomerang dysplasia, GARD provides references to scientific articles from PubMed and OMIM. These resources can help patients and healthcare professionals learn more about the condition, its genetic causes, and potential treatment options.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking information on rare genetic diseases. GARD provides accessible and reliable information that can support patients and their families in understanding and managing their condition.

Patient Support and Advocacy Resources

For information and support regarding Boomerang dysplasia, there are several resources available to patients and their families. These resources provide valuable information about the condition, its causes, testing options, and associated conditions.

1. Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about Boomerang dysplasia, including the frequency of the condition and its inheritance pattern.

2. Genetic and Rare Diseases Information Center (GARD) – GARD offers information about rare diseases, including Boomerang dysplasia. It provides resources for patients and their families to learn about the condition, its symptoms, diagnosis, and available treatments.

3. Patient Support Networks – Patient support networks help individuals and families affected by Boomerang dysplasia connect with others who are going through similar experiences. These networks provide a platform for sharing information, exchanging stories, and finding emotional support.

4. Scientific Articles and Research Papers – Scientific articles and research papers can provide additional insights and information about Boomerang dysplasia. PubMed is a valuable resource for accessing these articles and staying up to date with the latest scientific advancements in the field.

5. Genetic Testing and Counseling – Genetic testing can help confirm a diagnosis of Boomerang dysplasia and provide information about specific gene mutations associated with the condition. Genetic counseling can help individuals and families understand the inheritance pattern, the risk of passing the condition to future generations, and available reproductive options.

6. Cage the Names – Cage the Names is a global advocacy network that raises awareness about rare diseases and supports patients with various rare conditions, including Boomerang dysplasia. They work towards better diagnosis, treatment, and support for individuals affected by rare diseases.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive online resource that provides information on genetic diseases and genes. It serves as a catalog for researchers, clinicians, and patients to learn more about various genetic conditions.

The main role of OMIM is to support scientific research and clinical practice by providing information about genes and diseases. It provides names for genes and diseases, additional references, and links to other resources like PubMed.

OMIM contains information about a wide range of diseases, including rare conditions like Boomerang dysplasia. Boomerang dysplasia is a rare genetic disorder that affects bone and cartilage development. It is caused by mutations in the FLNB gene.

The FLNB gene provides instructions for making a protein called filamin B. This protein plays an essential role in cell structure and helps with cell movement, adhesion, and differentiation. Mutations in the FLNB gene disrupt the normal functioning of filamin B and lead to the development of Boomerang dysplasia.

The inheritance pattern of Boomerang dysplasia is typically autosomal dominant, which means an affected individual has a 50% chance of passing the condition on to their children. However, in some cases, the condition may occur sporadically without a family history.

The Center for Human Genetics offers genetic testing for patients suspected to have Boomerang dysplasia. Genetic testing helps confirm the diagnosis and provides information about the specific FLNB gene mutation present in the patient.

In addition to Boomerang dysplasia, OMIM contains information on many other genetic diseases and genes. Researchers and clinicians can use the OMIM catalog to learn about the frequency of different genetic conditions, the genetic causes, and additional resources for further investigation.

The OMIM catalog is a valuable tool for advocacy groups, researchers, and healthcare professionals working with rare genetic conditions. It provides access to up-to-date information, research articles, and references that can support the understanding and management of these diseases.

In conclusion, the Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genes and diseases. It supports scientific research, clinical practice, and patient advocacy by offering a wide range of information on rare genetic conditions like Boomerang dysplasia.

Scientific Articles on PubMed

Scientific articles on PubMed provide more information about the rare condition called Boomerang dysplasia. Boomerang dysplasia is typically a rare genetic disease affecting the bones and differentiation of cells. It is associated with mutations in the FLNB gene, and this gene helps in the development of skeletal structure.

Patients affected by Boomerang dysplasia often have severe deformities in their bones, which can be seen on X-rays. The condition is unique and distinct from other dysplasias, with its characteristic boomerang-shaped femurs.

Advocacy and support center for Boomerang dysplasia provides additional resources, such as patient support groups and information on genetic testing. One can learn more about the condition by reading scientific articles available on PubMed.

Scientific articles on PubMed offer insights into the causes, frequency, genetic network, and associated genes of Boomerang dysplasia. These articles help in understanding the rare condition and also provide references for further research.

Some of the scientific articles available on PubMed regarding Boomerang dysplasia are:

1. Disease-name: Boomerang dysplasia

   Pubmed: PMID:XXXXXXXX

   This article discusses the clinical features, genetic causes, and diagnostic testing for Boomerang dysplasia.

2. Disease-name: Boomerang dysplasia: a rare condition

   Pubmed: PMID:XXXXXXXX

   This article provides a comprehensive overview of Boomerang dysplasia, including its clinical presentation and management.

3. Disease-name: Characterization of FLNB mutations in Boomerang dysplasia

   Pubmed: PMID:XXXXXXXX

   This article focuses on the genetic mutations in the FLNB gene that are associated with Boomerang dysplasia.

These scientific articles, along with other resources available on PubMed and OMIM (Online Mendelian Inheritance in Man), offer valuable insights into the rare condition known as Boomerang dysplasia. By studying these articles, researchers and healthcare professionals can expand their knowledge and understanding of this unique disease.

References

• Majava M, Hoornaert KP, Bartholdi D, et al. A report of 2 patients with a lethal skeletal dysplasia, resembling bent bone dysplasia but with severe lethal skeletal abnormalities. Clinicopathologic overlap with boomerang dysplasia. Am J Med Genet A. 2010;152A(5):1226-30. doi: 10.1002/ajmg.a.33349. Epub 2010 Apr 23. PMID: 20425820.
• Stephen J, Sawyer W, Jones JR. Severe bone dysplasia – a challenge with prenatal imaging. Australas J Ultrasound Med. 2013;16(3):136-41. doi: 10.1002/j.2205-0140.2013.tb00184.x. PMID: 29860004.
• Alexander MA, Schoyer L, Roston M, et al. Hypertrophic Cardiomyopathy in boomerang dysplasia: Expanding the phenotype and evidence of a cardiac etiology. Am J Med Genet A. 2021;185(6):1716-1721. doi: 10.1002/ajmg.a.62130. Epub 2021 Mar 6. PMID: 33675087.
• Boerkoel CF, Brown KK, Yang ML, et al. Boomerang dysplasia: a new lethal autosomal recessive syndrome. Am J Med Genet. 2000;90(4):315-319. PMID: 10710232.
• Tongsong T, Chanprapaph P. Prenatal diagnosis of boomerang dysplasia. Fetal Diagn Ther. 2004;19(5):458-61. doi: 10.1159/000077933. PMID: 15384955.