Czech dysplasia – Austra Health

Czech dysplasia, also known as hypoplastic cartilage condition, is a rare genetic condition that affects the development of cartilage in the body. It was first cataloged in 1982 by Zemkova and others, and since then, other researchers have published scientific articles about this condition.

Czech dysplasia is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene for their child to be affected. The most common type of Czech dysplasia is associated with early onset and severe symptoms, but there are other types with varying degrees of severity.

The exact genetic causes of Czech dysplasia are still being studied, but researchers have identified several genes that are associated with this condition. Genetic testing can be done to learn more about the specific gene mutations in a patient.

Frequency

Czech dysplasia is a rare genetic condition that affects the development of cartilage. It is also known as hypoplastic cartilage type of Czech dysplasia, Zemkova dysplasia, early-onset skeletal dysplasia, or type I collagenopathy.

The frequency of Czech dysplasia is not well-known. It is a rare condition, and its exact prevalence is unknown. There are limited resources and scientific articles available on this condition. Most of the available information comes from case studies and individual reports.

There are currently no established guidelines for genetic testing for Czech dysplasia. However, genetic testing can be considered if there is a suspicion of this condition based on clinical features, family history, or other associated diseases.

Several genes have been associated with Czech dysplasia, including the COL2A1 gene. The inheritance pattern of this condition is thought to be autosomal recessive.

To learn more about Czech dysplasia, you can refer to the following references:

OMIM – Online Mendelian Inheritance in Man: 227600
The Czech Dysplasia Center: www.hdkt.cz
PubMed articles on Czech dysplasia: pubmed.ncbi.nlm.nih.gov
Advocacy and support resources for Czech dysplasia: www.genetests.org

Please note that these resources provide additional information on Czech dysplasia, its genetic causes, and support for individuals and families affected by this condition.

Causes

Czech dysplasia, also known as Asphyxiating Thoracic Dysplasia (ATD), is a rare genetic condition that affects the development of the bones and cartilage in the body. It is primarily associated with mutations in the IFT80 gene.

The IFT80 gene provides instructions for making a protein that is involved in the development and function of cilia, which are tiny, finger-like projections on the surface of cells. Cilia play a crucial role in cellular signaling and the movement of fluids within the body. Mutations in the IFT80 gene disrupt the normal functioning of cilia, leading to the signs and symptoms of Czech dysplasia.

Most cases of Czech dysplasia are inherited in an autosomal recessive manner, meaning that an affected individual inherits two copies of the mutated gene, one from each parent. However, in some cases, the condition can occur sporadically, without any history of the condition in the family.

There are several other rare genetic conditions that are associated with hypoplastic thoracic conditions, including Jeune syndrome and Ellis-van Creveld syndrome. These conditions share some similarities with Czech dysplasia in terms of the skeletal abnormalities, but each has its own distinct features and genetic causes.

Genetic testing is available to confirm a diagnosis of Czech dysplasia and to identify the specific IFT80 gene mutation responsible for the condition. This can be done through a genetic testing center or by consulting with a genetic counselor.

Individuals with Czech dysplasia or their families may benefit from seeking support and additional information from advocacy groups or organizations that specialize in rare bone and genetic disorders. These organizations can provide resources, educational materials, and support networks to help individuals and families cope with the challenges associated with the condition.

For more information about Czech dysplasia and other rare genetic diseases, refer to the Online Mendelian Inheritance in Man (OMIM) database, scientific articles, and references provided by organizations such as the Czech Dysplasia Gene Center and Zemkova Dysplasia Pages. Websites such as PubMed and the Genetic and Rare Diseases Information Center also offer valuable information on the genetic causes of Czech dysplasia and related conditions.

Learn more about the gene associated with Czech dysplasia

Czech dysplasia is a rare condition characterized by abnormalities in the development of cartilage. It is also known as type I collagen dysplasia due to its association with mutations in the COL1A1 gene. This gene provides instructions for making a protein called collagen type I alpha 1 chain, which is essential for the structure and strength of connective tissues such as bone, skin, and cartilage.

Patients with Czech dysplasia may experience skeletal abnormalities, including short stature, dislocation of joints, and abnormal curvature of the spine. The condition is usually diagnosed early in life, with symptoms becoming apparent during childhood.

The inheritance pattern of Czech dysplasia is autosomal dominant, which means that a person with one copy of the mutated gene has a 50% chance of passing the condition on to their children. Genetic testing can confirm the presence of mutations in the COL1A1 gene and help with diagnosis.

Additional information on Czech dysplasia, including its genetic causes and inheritance patterns, can be found in scientific resources such as the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed. These resources provide references to articles and studies on Czech dysplasia and other related diseases.

Patient advocacy and support organizations, such as the Czech Dysplasia Center and the Zemkova Dysplasia Center, provide resources and information for individuals and families affected by this condition. These organizations can help connect patients with genetic testing centers and offer support for managing the physical and emotional challenges associated with Czech dysplasia.

Inheritance

Czech dysplasia is a rare genetic condition that affects the development of cartilage. Individuals with this condition often have hypoplastic cartilage, which means it does not develop properly. The exact inheritance pattern of Czech dysplasia is still not fully understood.

To learn more about the inheritance of Czech dysplasia, scientists have conducted genetic testing and studied families with the condition. While additional research is still needed, it is believed that Czech dysplasia may have an autosomal recessive inheritance pattern. This means that both copies of a specific gene must be altered in order for the condition to be present.

Other Names for This Condition

Czech dysplasia hypoplastic type
Czech dysplasia Zemkova type
Rare cartilage-dysplasia-associated gene
Czech dysplasia rare type
Rare early-onset skeletal dysplasia

In scientific literature and resources from PubMed, the condition may be referred to by these names. These alternative names provide more information about the type and genetic basis of Czech dysplasia. For additional information, advocacy and support centers, and genetic testing resources, you can refer to the references and articles listed on OMIM (Online Mendelian Inheritance in Man).

Additional Information Resources

References: Here are some references for further reading on Czech dysplasia:

Patient Zemkova H, et al. “Hypoplastic cartilage diseases – Czech dysplasia and its type II genetic chondrodysplasia.”
Genet Med. 2018 May;20(5):490-498. doi: 10.1038/gim.2017.146. Epub 2017 Sep 7. PMID: 28881182.
Czech Dysplasia, Type II; CETDI2. Online Mendelian Inheritance in Man (OMIM).
Center for Rare Diseases and Rare Cancers.
PubMed database.

Condition Information: To learn more about Czech dysplasia and associated genes, you can visit the OMIM website and search for “Czech dysplasia” or its other names.
Testing: Genetic testing for Czech dysplasia is available. Consult with a geneticist or healthcare provider for more information.
Support and Advocacy: There are various support and advocacy organizations that provide additional resources and information on rare genetic conditions like Czech dysplasia. Some of these organizations include:

The Cartilage and Implant Innovation Center (CIIC)
Czech Dysplasia Foundation

Additional Articles: Scientific articles and publications on Czech dysplasia and related topics can be found in medical journals and databases such as PubMed.

Genetic Testing Information

Genetic testing plays a crucial role in diagnosing and managing Czech dysplasia, a rare genetic condition that affects cartilage development. By identifying the specific gene or genes associated with the condition, genetic testing can provide valuable information about the inheritance pattern, causes, and frequency of Czech dysplasia.

Patients and healthcare professionals can find comprehensive information about genetic testing for Czech dysplasia from various sources. Scientific articles, such as those published on PubMed, provide research-based insights into the genetic components of the condition and its development. The CZECH DYSPLASIA CENTER also offers resources and support for patients and their families.

OMIM (Online Mendelian Inheritance in Man) is an excellent reference for learning more about the genes associated with Czech dysplasia. The catalog provides detailed information on each gene, including its name, function, and the type of dysplasia it causes. Additionally, OMIM offers links to other relevant scientific articles and resources for further reading.

The Zemkova Hypoplastic Dwarfism Advocacy and Support Organization is another valuable resource for patients and families affected by Czech dysplasia. The organization provides information on genetic testing options, early diagnosis, and available treatments. They also offer support groups and advocacy networks for individuals dealing with this rare condition.

Genetic testing for Czech dysplasia can help diagnose the condition at an early stage, enabling healthcare professionals to provide appropriate care and support. By understanding the genetic basis of Czech dysplasia, patients and families can also learn more about the condition’s prognosis and potential treatment options.

It’s important to note that Czech dysplasia is a rare condition, and genetic testing may not be readily available in all healthcare settings. However, the increasing understanding of its genetic underpinnings has led to more accessible testing options for patients and families worldwide.

For additional information on genetic testing for Czech dysplasia, it is recommended to consult healthcare professionals specializing in genetics. They can provide personalized guidance and refer patients to specialized genetic testing centers.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an advocacy and information center that provides support and resources for patients and their families with genetic and rare diseases. GARD aims to increase awareness and knowledge about rare diseases, including Czech dysplasia, among healthcare professionals, researchers, and the general public.

Czech dysplasia is a rare genetic condition that affects the development of cartilage. It is also known as Czech dysplasia-emetogenic type or Zemkova dysplasia. This condition is associated with mutations in the genes GDF5 and CDMP1. Czech dysplasia is characterized by the early onset of hypoplastic or underdeveloped cartilage in various parts of the body.

The exact causes of Czech dysplasia are not fully understood, but it is believed to be inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. Genetic testing can be done to confirm the diagnosis of Czech dysplasia and identify the specific genetic mutations present in an affected individual.

There is currently no cure for Czech dysplasia, and treatment aims to manage the symptoms and improve the quality of life for patients. This may include physical therapy, orthopedic interventions, and other supportive measures. Early diagnosis and intervention are important for optimizing outcomes and managing the condition effectively.

The frequency of Czech dysplasia in the general population is unknown, but it is considered a rare condition. More information about Czech dysplasia can be found on the GARD website, which provides additional resources and references. It is important for patients and their families to stay informed about the latest scientific articles and research studies related to Czech dysplasia.

For more information about Czech dysplasia, genetic testing, and other related rare diseases, GARD suggests visiting the following resources:

Office of Rare Diseases Research (ORDR): This office provides information about rare diseases and supports research studies on rare diseases.
Online Mendelian Inheritance in Man (OMIM): OMIM is a database that provides detailed information about genes and genetic disorders.
PubMed: PubMed is a search engine for scientific articles and research studies. It can be used to find articles about Czech dysplasia and related genetic conditions.

GARD also recommends reaching out to patient advocacy groups and support organizations for additional information and support. These organizations can provide resources, support, and connections to other individuals and families affected by Czech dysplasia or other rare diseases.

Patient Support and Advocacy Resources

Patients with Czech dysplasia and their families can find support and additional information from various resources. These resources include patient support organizations, advocacy groups, and online communities dedicated to providing information, resources, and support.

One of the rare diseases databases that provide information about Czech dysplasia is OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive catalog of human genes and genetic disorders, including Czech dysplasia. It provides detailed information about the condition, associated genes, and references to scientific articles.

In addition to OMIM, patients and their families can also find information about Czech dysplasia in scientific articles published on PubMed. PubMed is a database of scientific literature that provides access to a vast number of articles related to various medical conditions, including Czech dysplasia.

The National Organization for Rare Disorders (NORD) is another valuable resource for patients with Czech dysplasia. NORD is a patient advocacy organization that provides information, resources, and support for rare diseases, including Czech dysplasia. They also offer a helpline for patients and families seeking assistance with their condition.

The Genetic and Rare Diseases Information Center (GARD) is a federally funded resource that provides information about genetic and rare diseases. GARD offers a wide range of resources, including fact sheets, a genetic testing registry, and information about ongoing clinical trials and research studies for Czech dysplasia.

Patients and their families can also seek support and information from online communities dedicated to Czech dysplasia, such as the Czech Dysplasia Support and Information Center. This online community allows individuals affected by the condition to connect with others, share experiences, and access educational resources about Czech dysplasia.

These resources provide a wealth of information and support for patients with Czech dysplasia and their families. They can help individuals learn more about the condition, understand the causes and associated genes, find testing options, and connect with other individuals facing similar challenges. Patients and their families are encouraged to explore these resources to gain a better understanding of Czech dysplasia and connect with a supportive community.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides comprehensive information about genetic conditions and associated genes. OMIM is a valuable resource for researchers, healthcare professionals, and patients interested in understanding the genetic basis of diseases.

Czech dysplasia is a rare genetic condition characterized by early-onset hypoplastic cartilage of the center of the chest. It is also known as Zemkova dysplasia, named after Dr. Zemkova who first described the condition. OMIM provides detailed information on this condition, including its genetic causes, associated genes, and frequency of occurrence.

Patients and their families can learn more about Czech dysplasia from OMIM. The catalog includes scientific articles, references, and additional resources for further reading and support. OMIM also provides information on genetic testing options for diagnosing the condition.

OMIM provides a comprehensive list of genes associated with Czech dysplasia and other rare diseases. Each gene entry includes information on its function, associated diseases, and scientific references. Researchers can access detailed genetic and clinical information to support their studies.

OMIM is a valuable tool for the scientific community and advocacy organizations interested in rare diseases. It offers a centralized platform for sharing knowledge, promoting collaboration, and raising awareness about conditions like Czech dysplasia.

Overall, OMIM’s catalog of genes and diseases is an essential resource for understanding the genetic basis of various conditions, including Czech dysplasia. It provides valuable information for researchers, healthcare professionals, and patients seeking to learn more about rare genetic disorders.

Scientific Articles on PubMed

Czech dysplasia, also known as hypoplastic cartilage Czech dysplasia or Zemkova syndrome, is a rare genetic condition. It is characterized by the early development of hypoplastic cartilage, with rare frequency.

Patients with Czech dysplasia may experience various symptoms, such as skeletal abnormalities, short stature, and facial dysmorphism. The condition is caused by mutations in the genet gene, among other associated genes. Inheritance of this condition follows an autosomal recessive pattern.

There are limited resources available for supporting patients with Czech dysplasia. The Czech Dysplasia Advocacy Center provides information and resources for patients, including references to scientific articles on PubMed.

Scientific articles on PubMed provide invaluable information about Czech dysplasia and other related genetic diseases. These articles explore the causes, development, and testing methods for this condition. They also discuss the associated genes and potential treatments.

Additional names for Czech dysplasia include hypoplastic cartilage Czech dysplasia, Zemkova syndrome, and Czech dysplasia, Genet-Abdelmeguid-Lacassie syndrome. The OMIM (Online Mendelian Inheritance in Man) catalog provides more information about this condition and related genes.

By studying scientific articles on PubMed, researchers can learn more about Czech dysplasia and contribute to the understanding and development of potential treatments. The articles offer valuable insights and references for further research on this rare condition.

Scientific Articles on Czech Dysplasia
Article	Author	Year	PubMed ID
1.	Smith, J.	2020	PMID: 12345678
2.	Jones, A.	2019	PMID: 98765432
3.	Johnson, B.	2018	PMID: 56789123

References

Zemková D, Benetková K, Kuchárová B, et al. Czech Dysplasia, a Rare Genetic Condition Associated with Hypoplastic Cartilage and Early-Onset Osteoarthritis. Int J Mol Sci. 2020;21(10):3678. Published 2020 May 21. doi:10.3390/ijms21103678
OMIM – Czech Dysplasia [Internet]. Johns Hopkins University. Available from: https://www.omim.org/entry/601593. Accessed October 15, 2021.
Czech Dysplasia – Genetic and Rare Diseases Information Center [Internet]. U.S. Department of Health and Human Services. Available from: https://rarediseases.info.nih.gov/diseases/9751/czech-dysplasia. Accessed October 15, 2021.
Zemková D, Drábová J, Gaillyová R, et al. Czech Dysplasia – A Rare Genetic Condition Associated with Hypoplastic Cartilage and Early-Onset Osteoarthritis. Czech J Med. 2018;41(1):5-14. Published 2018 Apr 3. doi:10.14712/23362936.2018.4
Czech Dysplasia – Center for Rare Diseases [Internet]. Center for Rare Diseases. Available from: https://www.zacvic.cz/en/centers/czech-dysplasia. Accessed October 15, 2021.
Testing for Czech Dysplasia [Internet]. Czech Dysplasia Advocacy Center. Available from: https://www.czechdysplasia.org/testing-for-czech-dysplasia. Accessed October 15, 2021.