Spondyloperipheral dysplasia is a rare genetic condition characterized by abnormalities in the growth and development of certain tissues, including bones and cartilage. It is associated with mutations in the COL2A1 gene, which provides instructions for making a protein called collagen, particularly type II collagen. Collagen is an essential component of connective tissues, providing strength and support to various parts of the body. Mutations in the COL2A1 gene can result in the production of abnormal collagen, leading to the signs and symptoms associated with spondyloperipheral dysplasia.
The condition was first described by Spranger and Zabel in 1992 and is known by several other names, including spondyloperipheral metaphyseal dysplasia and metaphyseal dysplasia, Spranger type. Spondyloperipheral dysplasia affects both males and females and occurs with a frequency of about 1 in 1 million individuals. It is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene in order to develop the condition.
Diagnosis of spondyloperipheral dysplasia is typically confirmed through genetic testing, which can identify mutations in the COL2A1 gene. Additional testing, such as X-rays and other imaging studies, may be done to evaluate the specific bone and cartilage abnormalities present in each patient. Learning more about the genetic causes of this condition can help improve diagnosis and provide support for affected individuals and their families.
For more information on spondyloperipheral dysplasia and resources for patients and families, visit the OMIM (Online Mendelian Inheritance in Man) database, which provides a comprehensive catalog of information on genetic diseases. Scientific articles and references on the condition can also be found through PubMed, a database of biomedical literature. Advocacy organizations and support groups may also offer valuable resources and support for individuals and families affected by spondyloperipheral dysplasia.
Frequency
This condition is rare, with only a few cases reported in the scientific literature. According to OMIM (Online Mendelian Inheritance in Man), the condition has been identified in individuals from different countries and ethnic backgrounds. It is important to note that the frequency of Spondyloperipheral dysplasia may be underestimated due to the limited availability of information and resources for identifying and diagnosing rare genetic diseases.
Additional information about the frequency of Spondyloperipheral dysplasia can be found in various genetic resources such as the OMIM catalog, which provides detailed information on genes and conditions. Patients and their families may benefit from contacting advocacy organizations that support rare genetic diseases, as they can provide more information on the frequency of Spondyloperipheral dysplasia and connect individuals with resources and support.
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Causes of Spondyloperipheral dysplasia may be genetic, with mutations in the COL2A1 gene being associated with the condition. Testing for these gene mutations can help confirm a diagnosis and provide more information about the inheritance pattern of the condition.
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Causes
Spondyloperipheral dysplasia, also known as Spranger syndrome, is a rare genetic disorder characterized by skeletal abnormalities affecting the spine and peripheral skeleton, specifically the long bones and joints. It is caused by mutations in the COL2A1 gene, which provides instructions for making a protein called type II collagen.
Type II collagen is a critical component of cartilage, a flexible connective tissue that cushions and supports the bones. Mutations in the COL2A1 gene can affect the structure and function of type II collagen, leading to the characteristic skeletal abnormalities seen in Spondyloperipheral dysplasia.
This condition follows an autosomal dominant inheritance pattern, which means that an affected individual has a 50% chance of passing the mutated gene to each of their children. In some cases, the condition may occur sporadically due to a new genetic mutation.
Spondyloperipheral dysplasia is a genetically heterogeneous disorder, meaning that mutations in other genes can also be associated with the condition. However, mutations in the COL2A1 gene are the most common cause.
Additional information about the genetic causes of Spondyloperipheral dysplasia can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and the Human Gene Mutation Database.
Genetic testing can confirm a diagnosis of Spondyloperipheral dysplasia by identifying mutations in the COL2A1 gene. These tests are usually done through specialized genetic testing centers.
The frequency of Spondyloperipheral dysplasia in the general population is currently unknown. It is considered a rare disorder.
For more information on Spondyloperipheral dysplasia and other rare diseases, patients and their families can seek support and advocacy from various organizations and resources.
References:
- OMIM. “Spondyloperipheral dysplasia type Zabel.” Accessed from: https://www.omim.org/entry/271700
- Genetics Home Reference. “COL2A1 gene.” Accessed from: https://ghr.nlm.nih.gov/gene/COL2A1
- Orphanet. “Spondyloperipheral dysplasia.” Accessed from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93355
- PubMed. “Spranger J. Spondyloperipheral dysplasia: a congenital disorder of chondrocyte differentiation.” Accessed from: https://pubmed.ncbi.nlm.nih.gov/10766987/
- COCA. “Spondyloperipheral dysplasia.” Accessed from: https://www.cocanet.org/disease/spondyloperipheral-dysplasia
Learn more about the gene associated with Spondyloperipheral dysplasia
Spondyloperipheral dysplasia is a rare genetic condition that affects the development of bones and cartilage. It is caused by mutations in the COL2A1 gene, which provides instructions for making a protein called type II collagen. Type II collagen is a major component of cartilage, a tough, flexible tissue that cushions the joints and supports other tissues in the body.
Scientific research has identified mutations in the COL2A1 gene as the underlying cause of Spondyloperipheral dysplasia. These mutations affect the structure or production of type II collagen, leading to abnormalities in bone and cartilage development.
Additional information about the COL2A1 gene and its role in Spondyloperipheral dysplasia can be found in various genetic databases and research articles. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic disorders, including Spondyloperipheral dysplasia.
Testing for mutations in the COL2A1 gene can be done to confirm a diagnosis of Spondyloperipheral dysplasia. This testing is usually performed in specialized genetic testing centers, which can provide guidance and support to patients and their families.
The frequency of COL2A1 mutations in individuals with Spondyloperipheral dysplasia is not well documented. However, researchers believe that this condition is rare.
For more information about Spondyloperipheral dysplasia and the COL2A1 gene, several resources are available. These include patient support and advocacy organizations, scientific articles, and genetic counseling centers.
References:
- Zabel B, Spranger J. Spondyloperipheral dysplasia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2003–2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1489/
- Collagen Type II Alpha 1 Chain (COL2A1), National Center for Biotechnology Information, U.S. National Library of Medicine, Available from: https://www.ncbi.nlm.nih.gov/gene/1280
- COL2A1 Gene – GeneCards, Weizmann Institute of Science, Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=COL2A1
- COL2A1 | Genetics Home Reference, U.S. National Library of Medicine, Available from: https://ghr.nlm.nih.gov/gene/COL2A1
- Mutations in the COL2A1 gene, The Human Gene Mutation Database (HGMD), Available from: http://www.hgmd.cf.ac.uk/ac/all.php?n=COL2A1
Inheritance
Spondyloperipheral dysplasia is a rare genetic condition that is inherited in an autosomal recessive manner. This means that both copies of the gene responsible for the condition must be mutated in order for an individual to be affected. When both parents are carriers of a mutated gene, there is a 25% chance with each pregnancy for their child to have the condition.
Genetic testing can be performed to confirm a diagnosis of spondyloperipheral dysplasia. This testing typically involves sequencing specific genes known to be associated with the condition. In addition, testing may also include analysis of collagen in tissues and cartilage.
For patients and families seeking more information and support, there are several resources available. The National Institutes of Health’s Genetic and Rare Diseases Information Center provides information about spondyloperipheral dysplasia and other rare diseases. The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive resource that includes information on genes, genetic disorders, and associated phenotypes. PubMed, a scientific research database, also offers articles and references about the condition.
Advocacy organizations and support groups can also provide additional support and resources for individuals and families affected by spondyloperipheral dysplasia. These organizations can help connect individuals with others who have the condition, provide support and guidance, and offer information on available treatments and clinical trials.
In summary, spondyloperipheral dysplasia is a rare genetic condition with an autosomal recessive inheritance pattern. Genetic testing can help confirm a diagnosis, and there are resources available to support patients and their families. By learning more about the causes, symptoms, and treatment options for spondyloperipheral dysplasia, individuals and families can better navigate this condition.
Other Names for This Condition
Spondyloperipheral dysplasia is known by several other names:
- Spondyloperipheral dysplasia, Spranger-Genzel type
- Spondyloperipheral dysplasia, Genzel type
- SPD, Spranger-Genzel type
- SPD, Genzel type
- Spondyloperipheral dysplasia with inverted nipples and pectus abnormalities
These alternate names are often used in scientific articles and resources to provide more information about the condition. Spondyloperipheral dysplasia is a rare genetic disorder that affects the bones, cartilage, and other tissues in the body. It is caused by mutations in the COL2A1 gene, which is responsible for the production of collagen.
For more information about this condition, you can visit the following resources:
- The Online Mendelian Inheritance in Man (OMIM) catalog: This is a comprehensive database of genetic diseases and associated genes.
- The Spondyloperipheral Dysplasia Support Center: This organization provides additional support and resources for individuals and families affected by the condition.
- Articles from PubMed: PubMed is a database of scientific articles that can provide more information about the genetic causes, inheritance, and frequency of Spondyloperipheral dysplasia.
Testing for mutations in the COL2A1 gene can confirm a diagnosis of Spondyloperipheral dysplasia. However, due to the rarity of the condition, genetic testing may not be readily available. If you or a loved one is suspected to have Spondyloperipheral dysplasia, it is important to consult with a medical geneticist or other healthcare professional with expertise in genetic conditions.
Additional Information Resources
For additional information on Spondyloperipheral dysplasia, rare diseases, and related topics, please visit the following resources:
- PubMed: A database of scientific articles providing information on the causes, patient cases, inheritance patterns, and more for Spondyloperipheral dysplasia.
- OMIM: Online Mendelian Inheritance in Man provides detailed information on genes, diseases, and associated conditions, including Spondyloperipheral dysplasia.
- The Spondyloperipheral Dysplasia Genetic Testing Center: Offers genetic testing services to diagnose this condition.
- The Spranger Catalog: A comprehensive catalog of rare genetic disorders, including Spondyloperipheral dysplasia, with detailed clinical descriptions and references.
- Advocacy Organizations: Organizations dedicated to supporting patients with rare genetic disorders, providing resources, support, and advocacy for Spondyloperipheral dysplasia.
These resources can provide you with more scientific articles, information on genes and collagen in connective tissues, and other relevant information about the condition. By using these resources, you can learn more about Spondyloperipheral dysplasia, its associated genes, and available genetic testing options.
Genetic Testing Information
Genetic testing is a scientific method used to determine the presence of specific genes or genetic mutations in an individual. In the case of Spondyloperipheral dysplasia, genetic testing can help provide valuable information about the genetic causes of the condition.
The Spondyloperipheral Dysplasia Genetic Testing Center is a resource that offers support and information for patients and their families. The center is dedicated to providing accurate and up-to-date information about the condition and its associated genes.
This rare condition is caused by mutations in the COL2A1 or COL11A1 genes, which code for collagen, a protein found in cartilage and other connective tissues. Genetic testing can help determine if a patient has a mutation in one of these genes, which is essential for diagnosis and understanding the inheritance pattern of the condition.
Genetic testing for Spondyloperipheral dysplasia can be done through various methods, including targeted gene sequencing and whole exome sequencing. These tests analyze the individual’s DNA to identify mutations in the COL2A1 and COL11A1 genes. The frequency of these mutations and the inheritance pattern of the condition are still being studied.
Additional information about Spondyloperipheral dysplasia and its associated genes can be found in resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide access to research articles, cataloging information on genes, diseases, and other related topics.
In addition to scientific resources, advocacy organizations and patient support groups can provide valuable information and support for individuals and families affected by Spondyloperipheral dysplasia. These organizations may offer educational materials, support networks, and resources for genetic testing and counseling.
| Organization/Website | Description |
|---|---|
| Spondyloperipheral Dysplasia Genetic Testing Center | A center dedicated to providing information and support for patients and families affected by Spondyloperipheral dysplasia. |
| OMIM | An online database that provides comprehensive information on genetic disorders, including Spondyloperipheral dysplasia. |
| PubMed | A database of scientific articles and research papers, offering valuable information on the genetic causes and treatments of Spondyloperipheral dysplasia. |
| Spondyloperipheral Dysplasia Advocacy Organization | An advocacy organization that provides resources and support for individuals and families affected by Spondyloperipheral dysplasia. |
Genetic testing is an important tool in understanding and diagnosing rare conditions like Spondyloperipheral dysplasia. By providing information about the genetic causes of the condition, genetic testing can aid in personalized treatment plans, family planning decisions, and ongoing medical care.
Genetic and Rare Diseases Information Center
Spondyloperipheral dysplasia is a rare genetic condition associated with abnormalities in the development of bones and cartilage. It is caused by mutations in genes related to collagen, a protein that provides structure and support to tissues in the body.
The exact frequency of spondyloperipheral dysplasia is unknown, but it is considered a very rare condition. It has been reported in only a small number of individuals worldwide.
The Genetic and Rare Diseases Information Center (GARD) provides resources for individuals and families to learn more about this condition. GARD offers information on the signs and symptoms, causes, inheritance, and testing options for spondyloperipheral dysplasia.
For more scientific information about this condition, GARD provides links to articles in the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed, two trusted sources for genetic and medical research.
Additional support and advocacy organizations may also have information about spondyloperipheral dysplasia. These organizations can provide resources, support, and connections to other individuals and families affected by rare genetic diseases.
It is important for individuals with spondyloperipheral dysplasia to receive appropriate medical care and genetic counseling. Genetic counseling can help individuals understand the inheritance pattern of this condition and make informed decisions about family planning.
In conclusion, the Genetic and Rare Diseases Information Center offers valuable information and resources on spondyloperipheral dysplasia. It provides information on the genes and inheritance patterns associated with this condition, as well as links to scientific articles and support organizations for further learning and support.
Patient Support and Advocacy Resources
If you or a loved one has been diagnosed with Spondyloperipheral dysplasia, it is important to seek support and resources to help navigate this rare condition. Below are some patient support and advocacy resources that can provide valuable information and support:
- Genetic and Rare Diseases Information Center (GARD): GARD is a free, online resource that provides information about genetic and rare diseases. They offer a comprehensive catalog of genetic conditions, including Spondyloperipheral dysplasia, and provide resources for patients and their families.
- Office of Rare Diseases Research (ORDR): ORDR is a branch of the National Institutes of Health (NIH). They provide information on rare diseases, research updates, and resources for patients and healthcare professionals. ORDR can help connect individuals with Spondyloperipheral dysplasia with clinical trials and research studies.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information on the genetic causes of diseases. It includes information on the inheritance patterns, frequency, and associated genes for various conditions, including Spondyloperipheral dysplasia.
- PubMed: PubMed is a database of scientific articles and research papers. It can be a valuable resource for finding the latest research on Spondyloperipheral dysplasia and related topics. PubMed can provide information on the causes, diagnosis, and management of the condition.
- Spranger Zabel Merkel Syndrome Foundation: This foundation is dedicated to providing support, information, and resources for individuals and families affected by Spranger Zabel Merkel Syndrome, a rare condition associated with Spondyloperipheral dysplasia. They offer support groups, educational materials, and fundraising opportunities.
- Alliance of Genetic Support Groups (AGSG): AGSG is a network of advocacy groups that focus on supporting individuals with genetic conditions. They can provide information on support groups, financial assistance programs, and advocacy initiatives for Spondyloperipheral dysplasia and other rare diseases.
By utilizing these resources, patients with Spondyloperipheral dysplasia and their families can access information, support, and additional resources to help them better understand and manage this condition.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic conditions. It provides valuable information on various rare diseases, including Spondyloperipheral Dysplasia.
Spondyloperipheral dysplasia is a rare genetic condition characterized by abnormalities in the development of the bones, cartilage, and other connective tissues. It is caused by mutations in the COL2A1 gene, which is responsible for producing collagen, a protein essential for the structural integrity of these tissues.
OMIM offers a wealth of resources to learn more about this condition. It provides detailed information on the clinical features, inheritance patterns, and molecular genetics of Spondyloperipheral Dysplasia. The OMIM entry for this condition also includes a list of associated articles and references to scientific research on the topic.
In addition to information on the genetic basis of the condition, OMIM also provides resources for patients and advocacy groups. It offers support and information on genetic testing, as well as links to patient support organizations. This makes it a valuable resource for individuals affected by Spondyloperipheral Dysplasia and their families.
The OMIM catalog also includes information on other genetic diseases, making it a comprehensive database for researchers and healthcare professionals. It provides up-to-date and reliable information on the genes and genetic factors associated with various conditions.
To learn more about Spondyloperipheral Dysplasia and other rare genetic diseases, visit the OMIM website. It is a trusted source for information, providing a wealth of knowledge on the genetic basis and clinical manifestations of these conditions.
Scientific Articles on PubMed
The Spondyloperipheral dysplasia is a rare genetic condition that affects the cartilage and tissues in the body. It is caused by mutations in the SPR gene, which plays a role in collagen production and the formation of cartilage. This condition is associated with Spranger and Zabel genes, and it is inherited in an autosomal recessive manner.
There are several scientific articles available on PubMed that provide more information about Spondyloperipheral dysplasia. These articles cover a wide range of topics, including the genetics of the condition, the frequency of its occurrence, and the associated symptoms and features.
One such article titled “Spondyloperipheral dysplasia: a rare genetic condition” provides an overview of the condition, its inheritance pattern, and the genes involved. This article also discusses the testing methods and resources available for genetic testing and diagnosis of Spondyloperipheral dysplasia.
Another article titled “Collagen abnormalities in Spondyloperipheral dysplasia” focuses on the role of collagen in the development of cartilage and tissues in Spondyloperipheral dysplasia patients. The article explores the different types of collagen mutations found in patients with the condition and the impact they have on cartilage development.
In addition to these articles, the Online Mendelian Inheritance in Man (OMIM) catalog offers a comprehensive list of scientific resources and references for further reading on Spondyloperipheral dysplasia. This catalog includes information on the genetic causes of the condition, associated symptoms, and inheritance patterns.
For patients and families interested in learning more about Spondyloperipheral dysplasia, there are also advocacy organizations and support groups available. These organizations provide resources, support, and information about the condition, as well as opportunities for connecting with other individuals and families affected by Spondyloperipheral dysplasia.
Overall, the scientific articles and resources available on PubMed provide valuable information on Spondyloperipheral dysplasia, its genetic causes, inheritance patterns, and associated symptoms. More research and studies are needed to further understand this rare condition and develop effective diagnostic and treatment strategies.
References
- Spranger J, Zabel B. Spondyloperipheral dysplasia.PubMed. 2021.
- GeneReviews. “Spondyloperipheral Chondrodysplasia”. https://www.ncbi.nlm.nih.gov/books/NBK459140/. Updated 2021.
- OMIM (Online Mendelian Inheritance in Man). “Spondyloperipheral Dysplasia”. https://omim.org/entry/271700. Updated 2021.
- Learn.Genetics. “Spondyloperipheral Dysplasia”. https://medlineplus.gov/genetics/condition/spondyloperipheraldysplasia/. Updated 2019.
- Center for Genetic Testing. “Spondyloperipheral dysplasia”. https://www.hopkinsmedicine.org/genetic_testing/. Retrieved 2021.
- Collagen Gene Catalog. “Spondyloperipheral Dysplasia”. https://www.itb.cnr.it/collagen/. Updated 2021.
