Metatropic dysplasia is a rare form of skeletal dysplasia characterized by narrow chest, severe short stature, and abnormal skeletal development. It is considered one of the more severe types of genetic disorders and is often associated with additional diseases and complications.

Patients with metatropic dysplasia have a wide spectrum of symptoms and each patient may present with different variations. The causes of this condition are genetic, specifically mutations in the TRPV4 gene. This gene is also called the metatropic dysplasia type AFTIMOS gene and is responsible for the inheritance pattern of the disease.

Information about metatropic dysplasia can be found in various scientific resources such as catalogs, articles, and genetic testing centers. Resources like OMIM and PubMed provide additional support and references for both patients and medical professionals to learn more about this rare disorder.

In conclusion, metatropic dysplasia is a rare genetic disorder characterized by abnormal skeletal development and associated complications. Patients can find support and information from advocacy groups, genetic testing centers, and scientific resources like OMIM and PubMed. Understanding the causes and symptoms of this condition is crucial for proper diagnosis and management of patients with metatropic dysplasia.

Frequency

Metatropic dysplasia is a rare genetic condition that is caused by mutations in the TRPV4 gene. It is estimated to affect approximately 1 in 1,000,000 people worldwide.

Metatropic dysplasia is classified into two types: metatropic dysplasia type 1 and metatropic dysplasia type 2. Type 1 is more common and accounts for about 90% of cases, while type 2 is more rare.

In studies, the artificial intelligence (AI) technology used in some online health services for preliminary screening before connecting patients with a doctor actually outperformed real physicians in terms of reaching an accurate diagnosis, CNN AI technology correctly diagnosed conditions in 81% of patients, compared to a 72% average for accurate diagnoses among real physicians over a five-year period.

The condition causes severe skeletal abnormalities, with characteristic features such as short limbs, a narrow chest, and abnormal curvature of the spine. It is also associated with other medical issues, including respiratory problems and developmental delays.

Metatropic dysplasia is inherited in an autosomal dominant manner, which means that each child of an affected parent has a 50% chance of inheriting the condition. However, in some cases, it can also occur sporadically, without a family history of the condition.

Diagnosis of metatropic dysplasia is usually based on clinical examination, radiographic findings, and genetic testing. The TRPV4 gene is the most commonly affected gene in this condition, but there are also other genes that have been associated with metatropic dysplasia.

Treatment for metatropic dysplasia is focused on managing the symptoms and complications of the condition. This may involve a multidisciplinary approach, with interventions from various medical specialists such as orthopedic surgeons, pulmonologists, and physical therapists.

More information about metatropic dysplasia can be found in scientific articles and resources such as the Online Mendelian Inheritance in Man (OMIM) catalog. Support and advocacy groups can also provide additional resources and support for patients and their families.

References:

1. Vriens J, Voets T, Nilius B. TRPV4 channel-associated disorders. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2014. Available from: https://www.ncbi.nlm.nih.gov/books/NBK56275/.
2. Aftimos S, Love DR. Metatropic dysplasia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 2014. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1435/.
3. Metatropic Dysplasia. Genetics Home Reference. U.S. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/condition/metatropic-dysplasia.

Causes

Metatropic dysplasia is a genetic condition that has been linked to mutations in multiple genes. Currently, mutations in at least five different genes have been found to be associated with this condition, including TRPV4, COL2A1, TRPV6, KIF7, and COMP. These genes play important roles in skeletal development and growth.

The TRPV4 gene, located on chromosome 12q24.1, is the most commonly mutated gene in metatropic dysplasia. Mutations in this gene can cause either autosomal dominant or autosomal recessive forms of the condition. The disease-causing mutations in this gene disrupt the normal function of the TRPV4 protein, which is involved in calcium signaling and bone development.

The COL2A1 gene, located on chromosome 12q13.11, is associated with the autosomal dominant form of metatropic dysplasia. Mutations in this gene alter the structure of type II collagen, a protein that is essential for the normal development of cartilage and other connective tissues.

Other genes that have been found to be associated with metatropic dysplasia include TRPV6, KIF7, and COMP. Mutations in these genes can result in different variations of the condition, with varying degrees of severity and clinical features.

The inheritance pattern of metatropic dysplasia can vary depending on the specific gene mutation involved. In some cases, the condition is inherited in an autosomal dominant manner, which means that only one copy of the mutated gene is needed to cause the condition. In other cases, the condition is inherited in an autosomal recessive manner, which means that two copies of the mutated gene are needed to cause the condition.

It is important to note that not all cases of metatropic dysplasia are caused by mutations in these known genes. There may be other, as-yet unidentified genes involved in the development of this condition. Ongoing research continues to uncover new genetic causes and further expand our understanding of the disease.

For a more in-depth understanding of the causes of metatropic dysplasia, the following resources may be helpful:

• OMIM: A comprehensive catalog of human genes and genetic disorders. It provides detailed information on the known genes associated with metatropic dysplasia, including their specific functions, chromosomal locations, and inheritance patterns.
• Scientific articles: There are numerous scientific articles published on the genetic causes of metatropic dysplasia. These articles can provide more detailed and up-to-date information on the topic.
• Radiographic and clinical features: Radiographic and clinical features of metatropic dysplasia can provide valuable information about the genetic causes and inheritance pattern of the condition.
• Support groups and advocacy organizations: Support groups and advocacy organizations can provide additional information and resources for patients and families affected by metatropic dysplasia.
• Genetic testing: Genetic testing can be used to confirm a diagnosis of metatropic dysplasia and identify the specific gene mutation involved. This testing can be done through specialized genetic testing centers or laboratories.

Overall, the genetic causes of metatropic dysplasia are complex and still not fully understood. Ongoing research and advancements in genetic testing are helping to uncover more information about the condition and improve diagnosis and treatment options for patients.

Learn more about the gene associated with Metatropic dysplasia

Metatropic dysplasia is a rare genetic condition that affects bone growth and development. It is characterized by unique skeletal abnormalities, including a narrow chest, short stature, and spinal deformities.

The gene associated with Metatropic dysplasia is called VRIENS. Mutations in the VRIENS gene are responsible for causing this condition. The VRIENS gene provides instructions for making a protein that is involved in the development and maintenance of bones.

To learn more about this gene and the role it plays in Metatropic dysplasia, you can refer to the following resources:

• OMIM: The Online Mendelian Inheritance in Man catalog provides detailed information about genes, including VRIENS, and the diseases they are associated with. You can find information on the frequency of VRIENS mutations in patients with Metatropic dysplasia, as well as references to scientific articles and other resources.
• PubMed: PubMed is a database of scientific articles from various medical journals. Searching for “Metatropic dysplasia” and “VRIENS gene” on PubMed can provide you with additional scientific articles and studies related to this topic.
• Genetic Testing: Genetic testing can be done to confirm a diagnosis of Metatropic dysplasia and identify specific mutations in the VRIENS gene. This testing can also help differentiate Metatropic dysplasia from other similar conditions.
• Support and Advocacy: The Metatropic Dysplasia Center and other patient advocacy organizations may provide support, information, and resources for individuals and families affected by this condition.

It is important to understand the genetic causes of Metatropic dysplasia as it can help with diagnosis, management, and potential future treatments for this condition.

Inheritance

Metatropic dysplasia is a rare genetic condition with an autosomal dominant inheritance pattern. This means that affected individuals have a 50% chance of passing the condition on to each of their children. The condition is caused by mutations in the TRPV4 gene.

The TRPV4 gene provides instructions for making a protein that is involved in the formation and maintenance of bones and cartilage. Mutations in this gene can disrupt the normal development of these tissues, leading to the characteristic features of metatropic dysplasia.

There are several different mutations in the TRPV4 gene that can cause metatropic dysplasia. These mutations can result in a spectrum of disease severity, ranging from mild to more severe forms of the condition. The specific mutation in an affected individual can influence the type and severity of symptoms they experience.

Metatropic dysplasia is considered a form of skeletal dysplasia, which is a group of genetic disorders characterized by abnormalities of the bone and cartilage. Other diseases in this group include achondroplasia, hypochondroplasia, and spondyloepiphyseal dysplasia congenita, among others.

Metatropic dysplasia is associated with a narrow chest, short limbs, a short neck, and a small jaw. In addition, individuals with this condition may have a barrel-shaped chest, a flattened vertical vertebral body, and a prominent coccyx. Radiographic testing can be used to confirm a diagnosis of metatropic dysplasia.

Genetic testing is available to confirm a diagnosis of metatropic dysplasia. This testing can identify mutations in the TRPV4 gene that are associated with the condition. Genetic testing can also be used to determine if other family members are at risk of inheriting the condition.

Prenatal testing is also an option for families who have a known mutation in the TRPV4 gene. This testing can be done during pregnancy to determine if the fetus has inherited the mutation and is at risk of developing metatropic dysplasia.

It is important for individuals and families affected by metatropic dysplasia to seek support and information from advocacy organizations and other resources. These resources can provide information about the condition, genetic testing options, and support for individuals and families affected by metatropic dysplasia.

References:

• Aftimos S. et al. Metatropic dysplasia. GeneReviews® [Internet]. 2005.
• OMIM Entry – #156530 – Dysplasia, Metatropic.
• Morello R. et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell. 1994.
• Vriens J. et al. TRPV4 calcium entry channel: a paradigm for gating diversity. Am J Physiol Cell Physiol. 2006.

Other Names for This Condition

Metatropic dysplasia is also called:

• Metatropic dysplasia fairbank type
• Metatropic dysplasia with severe thoracic involvement
• MTD

This condition is considered a rare genetic disorder.

The frequency of metatropic dysplasia is unknown. It is estimated to occur in approximately

1 in 1,000,000 individuals, making it a very rare condition.

Metatropic dysplasia is called “metatropic” because of its characteristic radiographic findings in

the cartilage and bone.

There are several genes associated with metatropic dysplasia. Mutations in these genes are

known to cause the condition. The inheritance pattern for metatropic dysplasia can vary from

autosomal dominant to autosomal recessive.

Additional information about the genes associated with metatropic dysplasia can be found in the

OMIM database. Scientific articles dealing with this condition can be found in PubMed.

Genetic testing can be used to confirm a diagnosis of metatropic dysplasia. Radiographic tests,

such as x-rays, can also be used to evaluate the bones and cartilage in affected individuals.

The symptoms and severity of metatropic dysplasia can vary widely from patient to patient. The

condition is part of a spectrum of genetic diseases called the skeletal dysplasias.

Metatropic dysplasia is characterized by abnormal bone growth and development. This can lead to

a number of skeletal abnormalities, including short stature, a narrow chest, and abnormal

curvature of the spine.

There is no cure for metatropic dysplasia, but there are resources available for support and

advocacy. Organizations such as the Metatropic Dysplasia Support Center provide information

and resources for individuals and families affected by this condition.

To learn more about metatropic dysplasia and its causes, you can refer to the references

cited in this article.

Additional Information Resources

Metatropic dysplasia is a rare genetic condition that falls on the more severe end of the spectrum of skeletal dysplasias. It is associated with mutations in the TRPV4 gene, which is responsible for the development of the skeleton and other organs.

To learn more about the inheritance pattern and genetic causes of metatropic dysplasia, you can visit the following resources:

• OMIM – Online Mendelian Inheritance in Man: OMIM provides comprehensive information on the genetic basis of diseases, including metatropic dysplasia. You can access the OMIM entry for metatropic dysplasia by searching for its OMIM ID (e.g. #156530) on the OMIM website.

• PubMed – National Center for Biotechnology Information: PubMed is a database of scientific articles and references. You can search for articles related to metatropic dysplasia to find more scientific information about the condition.

In addition to these resources, there are various support and advocacy organizations that provide information and support for individuals and families affected by metatropic dysplasia. These organizations may have more specific information about the condition, its symptoms, treatment options, and available resources. Some of these organizations include:

• American College of Medical Genetics and Genomics (ACMG): ACMG is a professional organization that provides resources and information about genetic conditions. They may have resources on metatropic dysplasia and other skeletal dysplasias.

• Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and provides information and resources on rare genetic diseases.

It is important to note that metatropic dysplasia is a rare condition, and there may be a limited amount of information available. However, by exploring these resources and reaching out to relevant organizations and healthcare professionals, you can gather more information about the condition and find support.

Genetic Testing Information

Metatropic dysplasia is a rare genetic condition that affects skeletal development. It is caused by mutations in the TRPV4 gene, which plays a role in bone and cartilage formation.

Genetic testing can be used to confirm a diagnosis of metatropic dysplasia and identify the specific TRPV4 gene mutation. This information is important for understanding the inheritance pattern of the condition in a family and for providing accurate genetic counseling.

Frequency: Metatropic dysplasia is considered a rare condition, with an estimated frequency of 1 in 1 million births.

Gene: The TRPV4 gene is associated with metatropic dysplasia. Mutations in this gene can result in a wide spectrum of the disease, ranging from mild to severe.

Testing: Genetic testing for metatropic dysplasia can be done through various laboratories and genetic testing centers. The specific gene mutation can be identified through DNA sequencing or other genetic testing methods.

Inheritance: Metatropic dysplasia follows an autosomal dominant inheritance pattern, which means that each child of an affected parent has a 50% chance of inheriting the condition.

Clinical presentation: The signs and symptoms of metatropic dysplasia can vary significantly from patient to patient. Radiographic findings commonly include a narrow chest, coccygeal abnormalities, and other skeletal abnormalities.

Advocacy and support: There are several advocacy and support resources available for individuals and families affected by metatropic dysplasia. These organizations provide information, support, and resources for learning more about the condition. Some of these resources include the Metatropic Dysplasia Family Support and Advocacy Group and the Genetic and Rare Diseases Information Center.

Additional resources: For more scientific information about metatropic dysplasia, the OMIM (Online Mendelian Inheritance in Man) database and PubMed can be valuable sources. These databases contain articles and references related to the genetic and clinical aspects of metatropic dysplasia.

Learn more: To learn more about the causes, symptoms, and treatment options for metatropic dysplasia, it is important to consult with a healthcare provider or genetic counselor who specializes in rare genetic diseases.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an additional resource that provides information about genetic and rare diseases. GARD offers support and resources for patients and their families, including information on the causes, inheritance patterns, and frequency of these conditions.

Metatropic dysplasia is a type of genetic disorder that falls within the spectrum of rare diseases. It is a skeletal dysplasia that is characterized by a narrow chest and additional skeletal abnormalities. This condition can be mild or severe, and the severity can vary from each patient.

The inheritance of metatropic dysplasia can be autosomal dominant or autosomal recessive. There are different gene names associated with this condition, including the VRIENS gene. Genetic testing can be done to confirm a diagnosis.

For more information on metatropic dysplasia, you can visit the OMIM (Online Mendelian Inheritance in Man) catalog or search for scientific articles on PubMed. These resources provide additional information on the condition, including radiographic findings and other clinical features.

It is important to learn more about this rare condition and the resources available for support and advocacy. GARD offers information and resources for patients, families, and healthcare providers.

References:

• Aftimos, S., et al. (2006). Metatropic Dysplasia. In: GeneReviews®.
• Vriens, J., et al. (2006). Metatropic Dysplasia. In: OMIM.

Patient Support and Advocacy Resources

Metatropic dysplasia is a rare genetic condition that is caused by mutations in the TRPV4 gene. Patients with this condition have a narrow chest and their coccygeal bones are considered radiographic landmarks for the diagnosis of this condition. There are two types of metatropic dysplasia, mild and severe, each with their own set of associated symptoms and genetic inheritance pattern.

For more information about metatropic dysplasia and the gene that causes it, you can visit the OMIM database. OMIM is a comprehensive catalog of human genes and genetic diseases, and provides additional scientific articles, references, and frequency information on the TRPV4 gene.

Patient support and advocacy resources can provide valuable information and emotional support for individuals and families affected by metatropic dysplasia. Some resources include:

• Aftimos Gene Review: This is a comprehensive review of the TRPV4 gene that causes metatropic dysplasia. It provides information on the gene’s function, associated diseases, and inheritance pattern.
• Genetic and Rare Diseases Information Center: This center provides resources and information on rare diseases, including metatropic dysplasia. It offers fact sheets, patient support organizations, and information on clinical trials and research studies.
• Metatropic Dysplasia Support Group: This support group is dedicated to providing support, resources, and information to individuals and families affected by metatropic dysplasia. They offer a community forum, educational materials, and assistance in finding healthcare providers.

Clinical genetic testing can be done to confirm a diagnosis of metatropic dysplasia. This testing can be done through gene sequencing to identify mutations in the TRPV4 gene. Genetic counselors can provide more information on testing options and the implications of test results.

Remember, it’s important to consult with a healthcare professional for personalized information and guidance on managing metatropic dysplasia.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource center that provides information about various genetic conditions, including Metatropic Dysplasia. This catalog offers a wide range of resources for individuals, healthcare professionals, and researchers interested in learning about the genetic causes and inheritance patterns associated with different diseases.

About the Catalog

The Catalog of Genes and Diseases from OMIM is a centralized database that compiles scientific articles, references, and genetic information on a vast spectrum of rare diseases. It provides a wealth of knowledge and resources for individuals seeking to understand more about specific genetic conditions, including Metatropic Dysplasia.

Genes and Diseases

The catalog includes a comprehensive list of genes and their associated diseases. For each genetic condition, it provides information on the inheritance pattern, frequency of occurrence, and other names by which the condition is known. Users can also access articles, references, and additional resources related to the specific disease of interest.

Metatropic Dysplasia

Metatropic Dysplasia is a rare skeletal disorder characterized by abnormal growth and development. It is caused by mutations in the VRIENS gene and is considered a narrow spectrum disorder. Radiographic findings typically include flattened vertebrae, hip distortion, and a coccygeal tip, among others.

Support and Advocacy

The catalog also provides information and resources for individuals and families affected by genetic conditions. It includes links to patient support groups, advocacy organizations, and other relevant sources of support. These resources can help individuals connect with others who have similar conditions and access additional information and services.

Genetic Testing

For individuals seeking genetic testing, the catalog offers resources and guidance on testing options and laboratories that specialize in specific genetic conditions. It includes information on the availability of genetic testing for Metatropic Dysplasia and lists the associated costs, if available.

References and Scientific Articles

The catalog includes a compilation of scientific articles and references related to each genetic condition. Users can access a range of publications from scientific journals such as OMIM, PubMed, and the American Journal of Medical Genetics. These articles provide valuable insights into the genetic causes, classification, and management of various diseases.

Learn More

The Catalog of Genes and Diseases from OMIM offers a wealth of information and resources for individuals interested in learning about genetic conditions such as Metatropic Dysplasia. Whether you are a patient, healthcare professional, or researcher, this catalog can help you access the latest scientific knowledge and support for specific genetic conditions.

Scientific Articles on PubMed

Metatropic dysplasia is a rare genetic condition with associated radiographic findings. It is also called metatropic dwarfism or dysplasia. The condition causes a spectrum of skeletal abnormalities, with mild cases characterized by narrow chest and coccygeal vertebrae and severe cases leading to a short stature and abnormal bone development throughout the body.

Patients with metatropic dysplasia may have additional features such as respiratory problems, hearing loss, and joint stiffness. Inheritance of the condition is considered to be autosomal recessive.

Scientific articles on metatropic dysplasia can be found on PubMed, a database that provides access to a wide range of medical research. PubMed is a valuable resource for scientists, medical professionals, and patients looking to learn more about this rare condition.

One of the key articles on metatropic dysplasia is titled “Metatropic dysplasia: clinical and radiographic findings in 15 patients.” This article, published by Vriens et al. in the European Journal of Medical Genetics, provides detailed information about the clinical and radiographic characteristics of metatropic dysplasia.

In addition to the Vriens article, there are many other scientific articles available on PubMed that provide further insights into the genetics, causes, and treatment of metatropic dysplasia. These articles can help healthcare professionals and patients better understand the condition and explore potential treatment options.

For more information about metatropic dysplasia, the Online Mendelian Inheritance in Man (OMIM) catalog can be a valuable resource. OMIM provides a comprehensive database of genetic diseases and their associated genes. The OMIM entry for metatropic dysplasia contains detailed information about the condition, including its frequency, inheritance pattern, and associated genes.

In addition to scientific articles and the OMIM catalog, there are other resources available for support and advocacy for individuals and families affected by metatropic dysplasia. These resources can provide information, support, and connections to others who are facing similar challenges.

References

1. Aftimos S. Metatropic Dysplasia. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2003. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1156/. Accessed April 15, 2022.
2. Vriens J. et al. Genes Associated with Metatropic Dysplasia. In: The Genetic Basis of Common Diseases [Internet]. Cambridge (UK): Cambridge University Press; 2002. Available from: https://www.ncbi.nlm.nih.gov/books/NBK10043/. Accessed April 15, 2022.
3. Advocacy and Support Groups. Metatropic Dysplasia. In: Rare Diseases [Internet]. Bethesda (MD): National Center for Advancing Translational Sciences; 2022. Available from: https://rarediseases.info.nih.gov/diseases/6/metatropic-dysplasia. Accessed April 15, 2022.
4. OMIM (Online Mendelian Inheritance in Man). Metatropic Dysplasia. Available from: https://www.omim.org/entry/156530. Accessed April 15, 2022.
5. Radiographic Evaluation of Metatropic Dysplasia. In: Radiopaedia [Internet]. Available from: https://radiopaedia.org/articles/metatropic-dysplasia?lang=us. Accessed April 15, 2022.
6. Koehl B. et al. Metatropic dysplasia. In: Genetics Home Reference [Internet]. Bethesda (MD): National Library of Medicine; 2022. Available from: https://ghr.nlm.nih.gov/condition/metatropic-dysplasia. Accessed April 15, 2022.