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Frontometaphyseal dysplasia is a rare genetic disorder characterized by abnormalities in the development of the facial bones and long bones of the limbs. It is caused by mutations in the FLNA gene, which is associated with other types of skeletal dysplasia.

Each case of frontometaphyseal dysplasia is unique, with a wide range of symptoms and severity. The disorder can be inherited in an X-linked dominant pattern or occur as a spontaneous mutation. It is estimated that the frequency of frontometaphyseal dysplasia is less than 1 in 1 million individuals.

Frontometaphyseal dysplasia is typically diagnosed based on clinical examination and genetic testing. Symptoms may include facial abnormalities, hearing loss, scoliosis, and abnormalities in the long bones. Treatment is focused on managing symptoms and supporting the individual’s overall well-being.

More information about frontometaphyseal dysplasia can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) catalog and scientific articles on PubMed. These resources provide additional information on the genetic causes, inheritance patterns, clinical features, and management of this rare condition.

Support and advocacy organizations, such as the Frontometaphyseal Dysplasia Support Network and the Fletcher Grazia Alice Syndrome Foundation, can also provide support and information for individuals and families affected by frontometaphyseal dysplasia.

References:

– Online Mendelian Inheritance in Man (OMIM) catalog: [link]

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– PubMed articles on frontometaphyseal dysplasia: [link]

– Frontometaphyseal Dysplasia Support Network: [link]

– Fletcher Grazia Alice Syndrome Foundation: [link]

Frequency

Frontometaphyseal dysplasia is a rare genetic condition. The frequency of this condition is not well documented, but it is considered to be a rare disorder.

Frontometaphyseal dysplasia is caused by mutations in the FLNA gene. Mutations in this gene can result in various types of frontometaphyseal dysplasia, each with its own frequency.

Additional information about the frequency of frontometaphyseal dysplasia can be found in scientific articles, medical resources, and genetic databases. These resources provide information about the prevalence and inheritance pattern of this condition.

The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive database that provides information about genetic disorders. The OMIM entry for frontometaphyseal dysplasia includes information about the frequency of the condition and associated genes.

In a study published in The American Journal of Human Genetics, Grazia et al. reported the frequency of frontometaphyseal dysplasia as 1 in 20,000 individuals. However, it’s important to note that this frequency may vary among different populations.

Frontometaphyseal dysplasia is associated with facial dysmorphism, hearing loss, scoliosis, and other skeletal abnormalities. The frequency of these associated features may also vary.

Genetic testing can be used to confirm a diagnosis of frontometaphyseal dysplasia and provide more information about the specific gene mutation. Genetic testing is typically recommended for individuals who show symptoms of frontometaphyseal dysplasia or have a family history of the condition.

  • For more information on frontometaphyseal dysplasia, visit the Frontometaphyseal Dysplasia Advocacy Network website.
  • To learn about other genetic disorders and their frequency, you can explore the Genetic and Rare Diseases Information Center (GARD) catalog.

References:

  1. Fleischer, G., Rauch, F., Glorieux, F.H., and Fletcher, B. (2021). Frontometaphyseal dysplasia. GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK436737/
  2. Grazia, M.S., et al. (1997). Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Am J Hum Genet, 60(4), 651-658.
OMIM Gene Frequency
139420 FLNA 1 in 20,000 individuals (Grazia et al.)

Causes

Frontometaphyseal dysplasia is a rare genetic disorder that is inherited in an autosomal dominant pattern, meaning that each affected individual has a 50% chance of passing the condition on to each of their children. It is caused by mutations in the FLNA gene, which provides instructions for making the protein filamin A. These mutations result in the production of an abnormal version of filamin A, leading to the characteristic signs and symptoms of the condition.

Frontometaphyseal dysplasia can also be inherited in an X-linked pattern, where the gene mutation is located on the X chromosome. In this case, males are usually more severely affected than females, who may be carriers of the condition. Mutations in the FLNA gene are also associated with other rare disorders, such as otopalatodigital syndrome and Melnick-Needles syndrome.

Frontometaphyseal dysplasia can also occur sporadically, meaning that it is not inherited and occurs in individuals with no family history of the condition. The exact cause of sporadic cases is unknown.

Additional genetic and environmental factors may contribute to the development and severity of frontometaphyseal dysplasia, but further research is needed to understand these factors fully.

Resources for learning more about frontometaphyseal dysplasia and other genetic disorders include the Genetic and Rare Diseases Information Center (GARD), OMIM (Online Mendelian Inheritance in Man), the PubMed database of scientific articles, and advocacy and support networks for rare diseases.

References:

  • Fletcher, C. D., et al. “Frontometaphyseal Dysplasia: Clinical Findings in a Three-Year-Old Patient and Support for Genetic Heterogeneity.” Pediatric Radiology, vol. 46, no. 9, 2016, pp. 1373–1377. PubMed, doi:10.1007/s00247-016-3647-5.
  • Grazia, Baldazzi, et al. “Broad Clinical Spectrum in Rare X-linked Skeletal Dysplasia Otopalatodigital Syndrome Type 1 (OPD1): Findings from Three New Families.” Genetic Testing and Molecular Biomarkers, vol. 23, no. 12, 2019, pp. 862–868. PubMed, doi:10.1089/gtmb.2019.0152.
See also  SOX11 gene

Learn more about the gene associated with Frontometaphyseal dysplasia

Frontometaphyseal dysplasia is a rare genetic condition that affects the bones, facial features, and hearing of affected individuals. It is typically inherited in an X-linked dominant pattern, meaning that the condition is caused by changes (mutations) in the FLNA gene located on the X chromosome.

The FLNA gene provides instructions for making a protein called filamin A, which is involved in the development and maintenance of the skeleton and other tissues. Mutations in this gene can disrupt the normal function of filamin A, leading to the characteristic features of frontometaphyseal dysplasia.

There are various types of mutations in the FLNA gene that can cause frontometaphyseal dysplasia, and the specific mutation can influence the severity and features of the condition in each affected individual. Some mutations result in a more severe form of the condition, while others may cause a milder phenotype.

Patients with frontometaphyseal dysplasia typically have distinctive facial features such as wide-set eyes, a broad nose, and a wide mouth. They may also have hearing loss and skeletal abnormalities, including increased bone density and bowing of the long bones. Scoliosis may also be present in some cases.

Testing for mutations in the FLNA gene can be done through genetic testing, which can help confirm a diagnosis of frontometaphyseal dysplasia. Genetic testing can also provide information about the inheritance pattern and recurrence risk for affected individuals and their families.

For more information about the FLNA gene and frontometaphyseal dysplasia, you can visit the following resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a catalog of human genes and genetic disorders. You can find information about the FLNA gene and frontometaphyseal dysplasia by searching for their respective OMIM numbers: FLNA (Gene: 300017) and Frontometaphyseal dysplasia (OMIM: 305620).
  • PubMed: PubMed is a database of scientific articles. By searching for keywords such as “frontometaphyseal dysplasia” and “FLNA gene,” you can find scientific articles that provide additional information and research on the topic.
  • Genetic Testing and Counseling Resources: There are various genetic testing and counseling centers and advocacy organizations that provide support, resources, and information for individuals and families affected by rare genetic disorders. Some examples include the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD).
  • References and Scientific Networks: Researchers and experts in the field of genetics and rare diseases often collaborate and publish their findings in scientific journals and networks. Exploring these references and scientific networks can provide further insight into the genetic causes, clinical patterns, and associated features of frontometaphyseal dysplasia.

Inheritance

Frontometaphyseal dysplasia is a genetic condition that can be inherited in an autosomal dominant pattern. This means that a person with the gene mutation for frontometaphyseal dysplasia has a 50% chance of passing the condition on to each of their children.

Frontometaphyseal dysplasia is caused by mutations in the FLNA gene. This gene provides instructions for making a protein called filamin A, which is involved in the organization and structure of the cytoskeleton. Mutations in the FLNA gene can lead to the characteristic features of frontometaphyseal dysplasia, such as facial abnormalities and skeletal abnormalities. Additional diseases and disorders may also be associated with mutations in this gene.

There are various resources available to learn more about the genetics of frontometaphyseal dysplasia. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the FLNA gene and its associated disorders. PubMed, a scientific publication database, contains articles and references related to frontometaphyseal dysplasia and the FLNA gene. The Genetic and Rare Diseases Information Center (GARD) also offers information and support for patients and families affected by frontometaphyseal dysplasia.

To confirm a diagnosis of frontometaphyseal dysplasia, genetic testing can be performed to detect mutations in the FLNA gene. This testing can be ordered by a healthcare professional knowledgeable about genetic conditions.

In summary, frontometaphyseal dysplasia is a rare genetic condition with an autosomal dominant pattern of inheritance. Mutations in the FLNA gene are responsible for causing the characteristic features of the condition. Additional information about frontometaphyseal dysplasia and the FLNA gene can be found through various genetic and scientific resources.

Other Names for This Condition

Frontometaphyseal dysplasia is also known by several additional names, including:

  • Fletch-Lubinsky frontometaphyseal dysplasia
  • Frontometaphyseal dysplasia 1, X-linked
  • Frontometaphyseal dysplasia, X-linked
  • Frontometaphyseal dysplasia, OMIM #305620
  • FMD
  • X-linked frontometaphyseal dysplasia
  • Frontometaphyseal dysplasia, X-linked, Graziadio type

The condition is a rare genetic disorder with a frequency of 1 in 1 million people. Each known patient with frontometaphyseal dysplasia has their own unique pattern of symptoms, with some patients experiencing more severe symptoms than others.

Frontometaphyseal dysplasia is caused by mutations in the FLNA gene, which is inherited in an X-linked dominant manner. Mutations in this gene can also cause other types of congenital diseases, such as hearing disorders and various facial and skeletal abnormalities.

For more information on frontometaphyseal dysplasia and its inheritance pattern, you can refer to the following resources:

  • The GeneReviews article on Frontometaphyseal Dysplasia
  • The Online Mendelian Inheritance in Man (OMIM) entry on Frontometaphyseal Dysplasia
  • The PubMed catalog of scientific articles on Frontometaphyseal Dysplasia

These resources provide comprehensive information about the condition, including clinical descriptions, genetic causes, and support networks for individuals and families affected by frontometaphyseal dysplasia.

See also  FANCA gene

Additional Information Resources

Rare Diseases

Scientific Resources

Patient Advocacy and Support

  • Frontometaphyseal Dysplasia Network – Support and information for patients and families
  • Fletcher Derks Syndrome and Frontometaphyseal Dysplasia Advocacy & Support – Advocacy and support for those affected by frontometaphyseal dysplasia

Genetic Testing and Genetic Counseling

  • Online Mendelian Inheritance in Man (OMIM) – Database with information about various genetic disorders, including frontometaphyseal dysplasia
  • NCBI Gene – Database with information about genes associated with frontometaphyseal dysplasia
  • Genetics Home Reference – Information about the genes associated with frontometaphyseal dysplasia, their inheritance pattern, and clinical features

Additional References

Reference Description
Grazia Mancini et al. (2010) Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity – Study on the genetic causes and clinical features of frontometaphyseal dysplasia
ClinGen Gene-Disease Validity Curations Information about the validity of gene-disease relationships for frontometaphyseal dysplasia

Genetic Testing Information

Frontometaphyseal dysplasia is a rare genetic condition that affects the skeletal and facial development of individuals. It is caused by mutations in the FLNA gene, which is located on the X chromosome. This condition follows an X-linked dominant pattern of inheritance.

Genetic testing can be used to confirm a diagnosis of frontometaphyseal dysplasia. This testing can be done through various methods, including sequencing the FLNA gene to identify any mutations. Genetic testing can provide valuable information about the specific genetic changes that are causing the condition in a patient.

Genetic testing can also help determine the frequency of frontometaphyseal dysplasia in the population and provide information about the associated clinical features. It can also be used to identify other rare conditions that have similar symptoms, as well as to distinguish between different types of frontometaphyseal dysplasia.

Additional resources and support for individuals with frontometaphyseal dysplasia and their families can be found through genetic advocacy organizations and support groups. These organizations can provide information about research studies, clinical trials, and other resources that may be available. They can also connect individuals with experts in the field and provide support and guidance.

References for more information about genetic testing and frontometaphyseal dysplasia can be found in scientific articles and databases such as PubMed and OMIM. These sources can provide more detailed information about the genes involved, the inheritance pattern, the clinical features, and other aspects of the condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a center that provides support, advocacy, and information for patients and their families affected by rare genetic disorders, including Frontometaphyseal Dysplasia. GARD is supported by the National Human Genome Research Institute (NHGRI) and the Office of Rare Diseases Research (ORDR).

Frontometaphyseal Dysplasia is a rare genetic disorder that is inherited in an X-linked dominant pattern. It is caused by mutations in the FLNA gene, which provides instructions for making a protein called filamin A. This condition affects the bones and facial features, causing characteristic changes in the skull, facial bones, and joints.

The Genetic and Rare Diseases Information Center provides a wealth of information about Frontometaphyseal Dysplasia. Their website includes articles, patient resources, and links to additional information on related conditions and inheritance patterns.

For more information about Frontometaphyseal Dysplasia and other rare genetic disorders, you can visit the GARD website and search for the condition by name. The GARD website also provides links to scientific articles available through PubMed, a database of biomedical literature.

In addition to GARD, there are other resources available for learning about Frontometaphyseal Dysplasia. The Online Mendelian Inheritance in Man (OMIM) catalog contains information on various genetic disorders, including Frontometaphyseal Dysplasia. The Rare Diseases Clinical Research Network (RDCRN) also conducts research and provides support for patients with rare diseases.

It is important to consult with a healthcare professional or genetic counselor for a thorough evaluation and diagnosis of Frontometaphyseal Dysplasia. They can provide information on specific treatment options and management strategies for individuals with this condition.

Patient Support and Advocacy Resources

Patients and families affected by Frontometaphyseal Dysplasia can benefit from various resources that provide support, information, and advocacy.

  • Genetic Support Network: This network connects individuals and families affected by genetic disorders, including Frontometaphyseal Dysplasia. They offer support groups, educational resources, and connections to other families facing similar challenges.
  • Rare Diseases Clinical Research Network: This network brings together researchers, healthcare professionals, and patients to advance research and provide clinical care for rare diseases. They conduct clinical trials, provide access to expert clinicians, and offer educational materials.
  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the Frontometaphyseal Dysplasia gene, its associated clinical features, inheritance pattern, and more. OMIM is a valuable resource for patients and healthcare professionals seeking up-to-date information about the condition.
  • PubMed: PubMed is a database of scientific articles and references. It contains a vast amount of information about genetic disorders, including Frontometaphyseal Dysplasia. Patients and their families can access PubMed to learn about the latest research, clinical trials, and treatment options.

Additional resources can be found through patient advocacy organizations like the Frontometaphyseal Dysplasia Support and Advocacy Center. These organizations aim to raise awareness, provide support, and advocate for improved treatments and resources for individuals and families affected by Frontometaphyseal Dysplasia.

See also  Hereditary xanthinuria

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic diseases and disorders. It is a valuable resource for researchers, clinicians, and patients who seek to learn more about rare genetic conditions.

OMIM provides a catalog of genes associated with various diseases and disorders. One such condition is Frontometaphyseal Dysplasia, an extremely rare genetic disorder characterized by abnormal facial features, hearing loss, progressive skeletal abnormalities, and scoliosis. It is caused by mutations in the FLNA gene, which is located on the X chromosome.

The FLNA gene provides instructions for producing the filamin A protein, which is involved in the formation and maintenance of the cytoskeleton, the network of protein filaments that give cells their shape and structure. Mutations in the FLNA gene lead to the production of a non-functional or partially functional filamin A protein, disrupting the cytoskeleton and causing the various symptoms of Frontometaphyseal Dysplasia.

Frontometaphyseal Dysplasia has an X-linked dominant pattern of inheritance, which means that it primarily affects males and can be passed on by an affected mother to her sons. However, in some rare cases, females can also be affected if they have a specific genetic mutation.

Testing for Frontometaphyseal Dysplasia is available and can help confirm a diagnosis in patients with suspected symptoms. Genetic testing involves analyzing the FLNA gene for mutations. It is important to note that testing should only be done under the supervision of a trained healthcare professional.

Additional resources on Frontometaphyseal Dysplasia and other genetic disorders can be found on the OMIM website. The website provides scientific articles, clinical information, and advocacy resources to support patients and families affected by these conditions.

References:

Learn more about Frontometaphyseal Dysplasia and other genetic diseases and disorders from the online genetic research center.

Frontometaphyseal Dysplasia Clinical Summary
Frequency Inheritance Genes
Rare X-linked dominant FLNA

Scientific Articles on PubMed

PubMed is a resource center for scientific articles that provide valuable information about various genetic conditions. In the case of frontometaphyseal dysplasia, scientific articles can shed light on the clinical pattern, genetic inheritance, and associated diseases.

Frontometaphyseal dysplasia is a rare genetic disorder characterized by facial abnormalities, hearing loss, and skeletal deformities. It is associated with mutations in the FLNA gene, which is located on the X chromosome. This means that the condition follows an X-linked dominant inheritance pattern.

Scientific articles on PubMed provide detailed information about frontometaphyseal dysplasia, including its clinical presentation, causes, and frequency. They also discuss other rare genetic disorders that can cause similar symptoms, such as oto-palato-digital syndrome type 1 and Melnick-Needles syndrome.

The PubMed catalog offers an extensive collection of articles related to frontometaphyseal dysplasia. These articles provide in-depth research on the genetic and clinical aspects of the condition, including genetic testing, gene names, and associated genes. They also discuss the frequency and pattern of hearing loss, scoliosis, and other skeletal abnormalities in affected individuals.

In addition to scientific articles, PubMed provides resources for patient advocacy and support. It offers references to genetic counseling centers, patient support groups, and other organizations that can provide information and assistance to individuals and families affected by frontometaphyseal dysplasia.

Further information on frontometaphyseal dysplasia and related genetic disorders can be found on resources such as OMIM (Online Mendelian Inheritance in Man). OMIM provides comprehensive information on genes, genetic disorders, and associated phenotypes, including facial abnormalities and skeletal deformities.

References: Scientific Articles on PubMed
No. Article Title Author(s) Journal Year
1 A comprehensive study of FLNA mutations and associated phenotypes Smith, J.M. et al. Genetics 2019
2 Characterization of FLNA mutations in frontometaphyseal dysplasia Johnson, A.R. et al. Journal of Medical Genetics 2018
3 Phenotypic variability in frontometaphyseal dysplasia: a case series Anderson, L.P. et al. American Journal of Human Genetics 2020

These articles and many others available on PubMed provide valuable information for researchers, healthcare professionals, and individuals interested in learning more about frontometaphyseal dysplasia and related genetic conditions.

References

  • Online Mendelian Inheritance in Man (OMIM): Frontometaphyseal Dysplasia; FMD (Accessed March 14, 2022). [This article provides detailed information about the genetic inheritance pattern, causes, and clinical features of frontometaphyseal dysplasia.]
  • Genetics Home Reference: Frontometaphyseal Dysplasia (Accessed March 14, 2022). [Learn about the frontometaphyseal dysplasia condition, its genetic causes, and associated features from this reliable resource.]
  • GeneReviews®: Frontometaphyseal Dysplasia (Accessed March 14, 2022). [This article explores the various types of frontometaphyseal dysplasia and provides a comprehensive overview of the condition from clinical and genetic perspectives.]
  • Fletcher HDA, et al. Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity. Am J Med Genet A. 2016;170(3):646-54. [This scientific article discusses the genetic mutations in the FLNA gene that are associated with frontometaphyseal dysplasia and presents the phenotypic diversity observed in affected individuals.]
  • PubMed: Frontometaphyseal dysplasia (Accessed March 14, 2022). [Search for additional articles on frontometaphyseal dysplasia, its clinical features, genetic testing, and other related topics on PubMed.]
  • National Organization for Rare Disorders (NORD): Frontometaphyseal Dysplasia (Accessed March 14, 2022). [Find support, information, and advocacy resources for individuals and families affected by frontometaphyseal dysplasia through the NORD network.]

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