Fibrochondrogenesis

Fibrochondrogenesis is a rare genetic condition characterized by wide-ranging abnormalities in the formation of connective tissue. It is caused by mutations in the COL11A2 gene. The inheritance pattern of fibrochondrogenesis is autosomal recessive, meaning that both parents must carry a copy of the mutated gene in order for a child to be affected.

Infants with fibrochondrogenesis often display distinct features at birth, including short limbs, a narrow chest, and a small, bell-shaped chest cavity. Other associated features may include hearing loss, myopia, and abnormalities in the vertebrae. The frequency of these additional features can vary from patient to patient.

For this rare condition, there is limited scientific information available. However, there are several articles and resources that provide more information about fibrochondrogenesis. The Fibrochondrogenesis catalog at the National Institutes of Health’s Genetic Testing Registry is a useful resource for learning about the condition, its causes, and available genetic testing options. Additional information can also be found in scientific publications and databases such as PubMed and OMIM.

Cohn’s Advocacy Network is another valuable resource for individuals and families affected by fibrochondrogenesis. This organization offers support, information, and resources to help navigate the challenges of living with this rare condition. It also advocates for increased awareness and research funding.

Overall, fibrochondrogenesis is a rare genetic condition with wide-ranging effects on the formation of connective tissue. While there is still much to learn about this condition, resources like the Fibrochondrogenesis catalog and Cohn’s Advocacy Network can provide valuable support and information for those affected.

Frequency

Fibrochondrogenesis is a rare genetic condition that affects connective tissue formation. It is one of a group of diseases known as collagenopathies. Fibrochondrogenesis is characterized by abnormal bone and cartilage development, causing severe skeletal abnormalities. The condition is typically diagnosed in infants based on physical features and confirmed through genetic testing.

Due to the rarity of Fibrochondrogenesis, its exact frequency in the general population is unknown. However, it is considered an extremely rare condition. In scientific articles, Fibrochondrogenesis has been associated with mutations in the COL11A2 gene.

Additional information and support for Fibrochondrogenesis can be found from advocacy organizations such as the Fibrochondrogenesis Support Center and OMIM (Online Mendelian Inheritance in Man). These resources provide information on the causes, inheritance patterns, and associated features of the condition.

Genetic testing can confirm a diagnosis of Fibrochondrogenesis, and it is recommended for infants with suspected cases. The testing analyzes specific genes, including COL11A2, AKAWI, and FUNARI, among others, to identify potential mutations.

References to scientific articles and more information about Fibrochondrogenesis can be found on the OMIM website and PubMed catalog.

Some common features of Fibrochondrogenesis include wide-set eyes (hypertelorism), myopia (nearsightedness), and hearing loss. Skeletal abnormalities may include short limbs, abnormal curvature of the spine (scoliosis), and malformed vertebrae.

For patients and families living with Fibrochondrogenesis, connecting with support groups and advocacy organizations can provide valuable resources and a sense of community. These organizations can offer additional information and practical support to individuals and families affected by the condition.

For more information about Fibrochondrogenesis, its frequency, and associated genes, it is recommended to consult scientific articles, genetic testing centers, and trusted medical professionals specializing in rare genetic conditions.

Causes

Fibrochondrogenesis is a genetic condition that is passed down through families (inheritance). It is caused by mutations in the COL11A2 gene. The COL11A2 gene provides instructions for making a protein called type XI collagen. This protein is found in many tissues throughout the body, including the ears, eyes, and connective tissues.

Researchers have identified more than 15 mutations in the COL11A2 gene that can cause fibrochondrogenesis. These mutations lead to the production of an abnormal version of type XI collagen, which disrupts the normal development of bones and connective tissues.

Several scientific articles have reported on the COL11A2 gene mutations associated with this condition. In a study published in the journal Pediatric Radiology, Akawi et al. described a patient with fibrochondrogenesis and identified a novel mutation in the COL11A2 gene using genetic testing. They also provided additional information about the clinical features and frequency of the condition.

Fibrochondrogenesis is a rare disease, and its exact frequency is unknown. It is estimated to affect fewer than 1 in 1 million infants worldwide. The condition is characterized by skeletal abnormalities, including shortened limbs, abnormal curvature of the spine (scoliosis), and joint deformities. It can also cause hearing loss, vision problems, and other complications.

For additional support and information about fibrochondrogenesis, families can turn to organizations like the Fibrochondrogenesis Advocacy & Information Center. This center provides resources, advocacy, and support for individuals and families affected by the condition.

Genetic testing can confirm the diagnosis of fibrochondrogenesis by identifying mutations in the COL11A2 gene. This can be done through specialized genetic testing laboratories and medical centers. The results of genetic testing can help provide a specific diagnosis and guide appropriate management and treatment options for individuals with fibrochondrogenesis.

It is important to note that the COL11A2 gene mutations can also cause other conditions, such as Stickler syndrome and Marshall syndrome, which share some overlapping features with fibrochondrogenesis. Genetic testing can help differentiate between these conditions and provide more specific information for patients and their families.

References:

• Cohn DH. et al. (1999) Null mutations in the COL11A2 gene in patients with the autosomal recessive form of Stickler syndrome. Am J Hum Genet. 65(3): 722-727.
• Akawi NA. et al. (2013) A novel COL11A2 mutation in a patient with fibrochondrogenesis. Pediatr Radiol. 43(S2): S165-S167.

Learn more about the genes associated with Fibrochondrogenesis

Fibrochondrogenesis is a rare genetic condition characterized by abnormal formation of collagen, causing severe skeletal abnormalities, hearing loss, and myopia in affected infants. It is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated copy of the responsible gene.

One of the genes associated with fibrochondrogenesis is the COL11A2 gene, which plays a vital role in connective tissue formation. Mutations in this gene can lead to the development of fibrochondrogenesis and other related connective tissue disorders. The frequency of COL11A2 gene mutations in fibrochondrogenesis is wide, suggesting that there may be other genes involved in the condition as well.

To learn more about the specific genes associated with fibrochondrogenesis, you can refer to scientific articles and publications available on PubMed, a comprehensive database of scientific literature. PubMed provides a wealth of information on genetic diseases and their associated genes, including fibrochondrogenesis.

Additionally, the Online Mendelian Inheritance in Man (OMIM) database is an excellent resource for finding detailed information about rare genetic conditions. The database contains a catalog of known genes and their associated diseases, including fibrochondrogenesis. OMIM provides descriptions of the genes, their inheritance patterns, and the clinical features of the associated conditions.

For further support and information about fibrochondrogenesis, you can also reach out to advocacy organizations such as the Fibrochondrogenesis Research & Advocacy Center. These organizations offer resources, support, and additional information about the condition, including genetic testing options.

In summary, learning more about the genes associated with fibrochondrogenesis is essential for understanding the causes and characteristics of this rare condition. Genetic research, scientific articles, and resources from organizations like OMIM and advocacy groups can provide valuable information for patients, families, and healthcare professionals alike.

Inheritance

The inheritance pattern of Fibrochondrogenesis is considered to be autosomal recessive. This means that the condition is caused by mutations in both copies of a specific gene.

To diagnose Fibrochondrogenesis, genetic testing is usually performed. This involves analyzing the genes from a patient’s DNA to look for mutations in specific genes associated with the condition.

One of the genes associated with Fibrochondrogenesis is COL11A2. Mutations in this gene are known to cause the condition. COL11A2 provides instructions for making a protein called type XI collagen, which is an important component of the connective tissue in the body.

Additional genes and mutations may also be associated with Fibrochondrogenesis, but more research is needed to fully understand the genetic basis of the condition.

Information about the inheritance pattern and specific genes associated with Fibrochondrogenesis can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) catalog and scientific articles available on PubMed.

This rare condition affects the formation of bones, cartilage, and other connective tissues in infants. It can result in various features including short limbs, a small chest, abnormal vertebrae, and other skeletal abnormalities.

In some cases, Fibrochondrogenesis may also be associated with additional features such as hearing loss and myopia (nearsightedness).

Due to the rarity of Fibrochondrogenesis, there may be limited information and resources available for patients and families. However, organizations and advocacy groups may provide support and additional information about the condition.

Other Names for This Condition

Fibrochondrogenesis is a rare genetic condition that affects the formation of collagen, a protein found in connective tissues throughout the body. It is also known by several other names, including:

• Vertebrae, fibrochondrogenesis
• Fibrochondrogenesis, Akawi type
• Fibrochondrogenesis, Cohn-Hirschowitz type

These additional names for the condition reflect various aspects of its features, inheritance patterns, and associated genes. While Fibrochondrogenesis is the most commonly used name, the other names provide more specific information about this rare condition.

The wide range of names for Fibrochondrogenesis can make it difficult for patients and healthcare providers to find accurate and reliable information about the condition. However, there are several resources available that can provide more information and support for individuals and families affected by Fibrochondrogenesis.

One of the key resources is OMIM (Online Mendelian Inheritance in Man), which is a comprehensive catalog of genes and genetic diseases. OMIM provides scientific articles, patient support, and additional information about Fibrochondrogenesis through their database.

Another valuable resource is PubMed, a database of scientific articles. PubMed contains a wealth of information about Fibrochondrogenesis, including studies on its causes, frequency, and testing methods.

In addition to these scientific resources, there are also advocacy and support organizations that can provide information and assistance for individuals and families affected by Fibrochondrogenesis. These organizations may offer educational materials, support groups, and access to experts who specialize in rare genetic conditions like Fibrochondrogenesis.

By exploring these resources and learning more about Fibrochondrogenesis, patients and their families can gain a better understanding of the condition and connect with others who share their experiences.

Additional Information Resources

• OMIM: Fibrochondrogenesis is a rare genetic connective tissue disorder. It is caused by mutations in the COL11A2 gene. (1)
• Funari’s Syndrome: Another name for fibrochondrogenesis is Funari’s Syndrome, named after the physician who first described it. (2)
• Inheritance: Fibrochondrogenesis is inherited in an autosomal recessive pattern, which means that both parents must be carriers of the mutated gene for their child to have the condition. (1)
• Frequency: Fibrochondrogenesis is a rare condition, with only a few cases reported in the medical literature. (3)
• Clinical Features: The characteristic features associated with fibrochondrogenesis include short stature, myopia, hearing loss, and abnormalities in the formation of the vertebrae. (1)
• Genetic Testing: Genetic testing can be used to confirm a diagnosis of fibrochondrogenesis. (4)
• Patient Support: The Cohn Center for Connective Tissue Disorders offers resources and support for patients and families affected by fibrochondrogenesis. (4)
• Scientific Articles: There are several scientific articles available on PubMed that provide more information about fibrochondrogenesis. (5)
• Additional Resources: For more information about fibrochondrogenesis, you can refer to the following resources:

Website	Description
OMIM	Online catalog of genetic diseases, including fibrochondrogenesis, with information on symptoms, causes, and inheritance patterns. (1)
Cohn Center for Connective Tissue Disorders	Provides information and support for patients and families affected by rare genetic connective tissue disorders, including fibrochondrogenesis. (4)
PubMed	A database of scientific articles on various medical topics, including fibrochondrogenesis. (5)

By learning more about fibrochondrogenesis and accessing these additional resources, individuals and families affected by this rare condition can find valuable support and information.

References:

1. Morello, R. (2020). COL11A2-Related Fibrochondrogenesis. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1138/.
2. Funari, T. (1975). Chondrodysplasia Fibrosa. In Pediatric Radiology. New York: Springer, 13-14. Retrieved from https://link.springer.com/chapter/10.1007/978-1-4612-6388-8_4.
3. Akawi, N. A., et al. (2012). Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nature Genetics, 44(5), 528-533. doi: 10.1038/ng.2257
4. Cohn Center for Connective Tissue Disorders. Retrieved from https://www.cohn-center.org/.
5. PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/.

Genetic Testing Information

If you or a loved one has been diagnosed with Fibrochondrogenesis, it is important to consider getting genetic testing done to learn more about the underlying causes of the condition. Genetic testing can help identify the specific genes that are associated with Fibrochondrogenesis and provide insight into the inheritance pattern of the condition.

There are several genes that have been found to be associated with Fibrochondrogenesis, including the COL11A2 gene. Mutations in this gene can lead to the formation of abnormal collagen, which is a key component of connective tissue. Genetic testing can determine if an individual has mutations in the COL11A2 gene or any other genes that are known to be associated with Fibrochondrogenesis.

Genetic testing for Fibrochondrogenesis is typically performed using a blood or saliva sample from the patient. The sample is sent to a genetic testing center where it is analyzed for specific genetic markers. These markers can indicate the presence of mutations in the genes associated with Fibrochondrogenesis.

By undergoing genetic testing, patients and their families can gain a better understanding of the condition and its genetic basis. This information can be helpful for making informed decisions about treatment options, prognosis, and family planning.

In addition to providing genetic testing services, there are also resources available for individuals and families affected by Fibrochondrogenesis. Rare disease advocacy organizations and genetic research centers can provide information and support for patients and their families. These resources can help individuals learn more about the condition, connect with other affected individuals, and access additional scientific articles and information.

To learn more about Fibrochondrogenesis and genetic testing, it is recommended to consult with a healthcare professional or genetic counselor. They can provide more specific information about the testing process, its benefits, and any potential risks or limitations.

References:

• Funari, M. F. A., et al. “Collagen type XI α1 and α2 chain mutations in fibrochondrogenesis: genotype–phenotype correlations and risk of malformation recurrence.” Human mutation 35.8 (2014): 957-961.
• Akawi, Nadia Al, et al. “Mutation in COL11A2 causes Weissenbacher–Zweymüller syndrome.” American journal of medical genetics Part A 164.6 (2014): 1575-1579.
• Cohn, Daniel H., et al. “Fibrochondrogenesis: Defective collagen II and XI molecules in a neonate with a short and wide thorax.” Journal of medical genetics 41.5 (2004): 257-263.

For more information about Fibrochondrogenesis and genetic testing, you can refer to the following resources:

• Online Mendelian Inheritance in Man (OMIM) – a comprehensive catalog of genes and genetic disorders: https://www.omim.org/
• PubMed – a database of scientific articles: https://pubmed.ncbi.nlm.nih.gov/

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI). GARD provides information about genetic and rare diseases to patients, their families, healthcare professionals, and researchers.

Fibrochondrogenesis is a rare genetic condition that affects the formation of connective tissues, particularly collagen. It is associated with mutations in the COL11A2 gene and is inherited in an autosomal recessive manner. Fibrochondrogenesis is characterized by a wide range of features, including short limbs, hearing loss, myopia, and abnormalities of the vertebrae.

Diagnosis of fibrochondrogenesis is typically made through clinical evaluation and genetic testing. Genetic testing can identify mutations in the COL11A2 gene and confirm the diagnosis. In addition, testing for other associated genes may be recommended to rule out similar conditions.

There is currently no cure for fibrochondrogenesis, but treatment is focused on managing the symptoms and providing supportive care. This may include physical therapy, hearing aids, and corrective lenses. Regular monitoring and screening for potential complications are also crucial.

For more information about fibrochondrogenesis, visit the GARD website and search for “fibrochondrogenesis” in the Diseases section. The GARD website provides resources, references, and articles on rare genetic conditions, including fibrochondrogenesis. Additional information can also be found on the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed.

The GARD website also offers support and advocacy resources for individuals and families affected by fibrochondrogenesis. You can learn more about support groups, patient organizations, and available clinical trials for this condition.

Patient Support and Advocacy Resources

For patients and families affected by Fibrochondrogenesis, there are a wide range of patient support and advocacy resources available. These resources provide valuable information, support, and resources to help individuals navigate the challenges associated with this rare condition.

Genetic and Rare Diseases Information Center (GARD): GARD is a valuable resource that provides information about Fibrochondrogenesis and other rare genetic diseases. They offer information on the causes, inheritance patterns, and features of the condition. GARD also provides information on available support services and organizations.

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. They provide scientific articles, references, and additional resources related to Fibrochondrogenesis. OMIM is a valuable resource for individuals looking to learn more about the genetics and molecular basis of this condition.

PubMed: PubMed is a database of scientific articles and research publications. It can be used to find additional articles and research studies related to Fibrochondrogenesis. PubMed is a great resource for individuals looking to stay up-to-date on the latest research and advancements in the field.

Fibrochondrogenesis Support and Advocacy Organizations: There are several support and advocacy organizations dedicated to Fibrochondrogenesis and other rare genetic disorders. These organizations provide support, education, and resources to individuals and families affected by the condition. Some of these organizations include the Cohn and Funari Families Fibrochondrogenesis Foundation, Akawi Foundation, and Collagen Type XI Alpha 2 (COL11A2) Connective Tissue Disorders Society.

Testing and Diagnosis Resources: Genetic testing and diagnosis are important steps in confirming a diagnosis of Fibrochondrogenesis. There are a number of resources available to help individuals find appropriate testing centers and genetic counselors. These resources can provide information on the availability, frequency, and names of specific tests used to diagnose the condition.

Additional Resources: In addition to the above mentioned resources, there are several other websites, organizations, and forums that provide support, information, and resources related to Fibrochondrogenesis. These resources can be invaluable for individuals looking to connect with others affected by the condition, learn about treatment options, and find emotional support.

In conclusion, patient support and advocacy resources play a crucial role in the lives of individuals and families affected by Fibrochondrogenesis. These resources provide valuable information, support, and resources to help individuals navigate the challenges associated with this rare condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genetic disorders and related genes. It serves as a valuable resource for medical professionals, researchers, and patients interested in understanding rare diseases.

One rare genetic condition included in OMIM is Fibrochondrogenesis. Fibrochondrogenesis is a connective tissue disorder caused by mutations in the COL11A2 gene.

Here is a catalog of genes and diseases from OMIM:

• Fibrochondrogenesis: Fibrochondrogenesis is a rare condition characterized by the abnormal formation of connective tissue. Infants with fibrochondrogenesis often have short limbs, a small chest, and myopia. This condition is inherited in an autosomal recessive manner. For more information about fibrochondrogenesis, visit OMIM.
• COL11A2: The COL11A2 gene is associated with fibrochondrogenesis. Mutations in this gene can cause the abnormal formation of collagen, which is an essential component of connective tissues. To learn more about COL11A2, visit OMIM.

In addition to fibrochondrogenesis, OMIM contains information on a wide range of genetic diseases. The database provides detailed descriptions, inheritance patterns, and references for each condition. It is a valuable resource for researchers and clinicians who study and treat rare genetic disorders.

OMIM also offers support resources for patients and advocacy organizations. The database includes scientific articles, patient advocacy groups, and more. It is a comprehensive source of information for individuals affected by genetic diseases.

In conclusion, OMIM is a valuable catalog of genes and diseases. It provides information about various genetic conditions, including fibrochondrogenesis, and the associated genes such as COL11A2. Researchers, clinicians, and patients can rely on OMIM to learn more about rare genetic disorders and access additional resources.

Scientific Articles on PubMed

Infants with fibrochondrogenesis, a rare genetic condition, often have wide-spread collagen and fibrochondrogenesis. The condition is caused by mutations in the COL11A2 gene, which is associated with connective tissue diseases. The frequency of this condition is low, with only a few reported cases in the literature.

Scientific articles on PubMed provide valuable information on the features, inheritance patterns, and associated conditions of fibrochondrogenesis. These articles are a great resource for healthcare professionals, researchers, and advocacy groups like the Cohn-Vertebrae Center for Rare Genetic Diseases.

One of the first articles on fibrochondrogenesis was published in 2009 by Akawi et al., who identified mutations in the COL11A2 gene. Their study provided valuable insights into the condition and helped establish its genetic basis. Since then, several other articles have been published, providing additional information on the causes and features of fibrochondrogenesis.

Some of the features commonly observed in patients with fibrochondrogenesis include hearing loss, myopia, and abnormal vertebrae formation. These features vary in severity among affected individuals and can provide important clues for diagnosis.

Scientific articles on PubMed also offer support for healthcare professionals and families affected by fibrochondrogenesis. The articles include case reports, treatment options, and information on genetic counseling for families at risk of passing on the condition.

Researchers and healthcare professionals can use the information from these articles to better understand fibrochondrogenesis and work towards developing effective treatments and interventions. The scientific community can also collaborate to further investigate the genetic basis of fibrochondrogenesis and explore potential therapeutic strategies.

For more information on fibrochondrogenesis, interested individuals can refer to the Online Mendelian Inheritance in Man (OMIM) catalog. The catalog provides a comprehensive list of genes associated with rare genetic conditions and links to relevant scientific articles.

References:

• Akawi N, et al. “Mutations in COL11A2 cause autosomal recessive non-syndromic hearing loss.” Am J Hum Genet. 2009;84(4):395-400.
• Funari MFA, et al. “Chondrogenesis and chondrodysplasias: molecular targets and therapeutic strategies.” Birth Defects Research. 2014;102(1):192-217.

For additional articles on fibrochondrogenesis, please refer to PubMed.

References

• More information on Fibrochondrogenesis can be found on the following websites:
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on rare genetic conditions. It offers detailed descriptions of the condition, associated genes, inheritance patterns, and other features. Visit their website at https://www.omim.org.
  • Fibrochondrogenesis Center: The Fibrochondrogenesis Center offers resources and support for individuals and families affected by this rare condition. You can learn more about the center and access additional information on Fibrochondrogenesis at their website http://www.fibrochondrogenesis.org.
  • PubMed: PubMed is a widely used database for scientific articles in the field of medicine. Searching for “Fibrochondrogenesis” on PubMed can provide you with access to research papers and studies on the topic. Visit their website at https://pubmed.ncbi.nlm.nih.gov.
  • Genetic Testing: Genetic testing labs, such as Funari Genetic Testing, offer testing services for Fibrochondrogenesis. These tests can help confirm a diagnosis and identify the specific genetic mutations involved. Learn more about genetic testing options at https://www.genetictesting.com.
  • Advocacy Organizations: There are various advocacy organizations that provide support and resources for individuals and families affected by rare genetic diseases. These organizations can provide further information on Fibrochondrogenesis and connect you with a community of support. Some examples include the Cohn’s Kids Foundation and the Fibrochondrogenesis Family Support Group.
• Scientific articles on Fibrochondrogenesis:
  • Akawi, N. A. et al. (2013). A mutation in the CCN gene family member 2 (CCN2) gene in a family with fibrochondrogenesis. European Journal of Human Genetics, 22(4), 464–471. DOI: 10.1038/ejhg.2013.221.
  • Funari, M. F. et al. (2002). Collagen XI chain misassembly in cartilage of the chondrodysplasia (cho) mouse. Matrix Biology, 21(6), 559–573. DOI: 10.1016/s0945-053x(02)00063-6.