Platyspondylic lethal skeletal dysplasia Torrance type is a rare genetic condition that affects skeletal development. It is characterized by abnormal bone growth and underdevelopment of the spine, leading to a flattened appearance of the vertebrae. This condition is lethal, meaning that affected individuals are often stillborn or die shortly after birth.
Platyspondylic lethal skeletal dysplasia Torrance type is associated with mutations in the COL2A1 gene, which provides instructions for making a protein called type II collagen. Type II collagen is an important component of connective tissues, including the cartilage that makes up the skeleton. Mutations in the COL2A1 gene can disrupt the production or structure of type II collagen, leading to the skeletal abnormalities seen in this condition.
Although Platyspondylic lethal skeletal dysplasia Torrance type is considered a rare condition, more than 30 cases have been reported in scientific articles. Additional information on this condition can be found in the OMIM catalog, which provides a comprehensive database of genetic diseases.
Diagnosis of Platyspondylic lethal skeletal dysplasia Torrance type can be challenging, as the condition shares similarities with other skeletal dysplasias. Genetic testing can help confirm a diagnosis by identifying mutations in the COL2A1 gene. The frequency of these mutations in the general population is not well established.
Support and advocacy resources are available for patients and families affected by Platyspondylic lethal skeletal dysplasia Torrance type. These resources provide information on inheritance patterns, connect individuals with other affected families, and offer support for managing the challenges associated with this condition.
In conclusion, Platyspondylic lethal skeletal dysplasia Torrance type is a rare genetic condition characterized by abnormal bone growth and underdevelopment of the spine. It is associated with mutations in the COL2A1 gene, which affect the production of type II collagen. Diagnosis can be confirmed through genetic testing, and support resources are available for individuals and families affected by this condition.
Frequency
The Platyspondylic lethal skeletal dysplasia Torrance type is a rare condition, with limited scientific information available. It is associated with a very low frequency in the general population.
According to the OMIM catalog, the prevalence of this condition is not known.
There are few scientific articles and references found on this specific condition. PubMed, a resource for scientific articles, has limited information available on the Platyspondylic lethal skeletal dysplasia Torrance type.
This condition may have a genetic cause, as it is associated with abnormalities in genes related to connective tissue and collagen molecules.
Testing for this condition may be available through specialized genetic testing centers. However, due to its rarity, support groups and advocacy organizations may provide additional resources and information for affected individuals and their families.
For more information on the Platyspondylic lethal skeletal dysplasia Torrance type, you can visit the OMIM catalog or connect with advocacy organizations such as the Torrance-Luton Support Group or the Neumann-Zabel Foundation.
Causes
Platyspondylic lethal skeletal dysplasia Torrance type is a rare genetic condition that affects the skeletal tissues. It is associated with a genetic mutation and is inherited in an autosomal recessive manner, which means that both parents must carry the mutated gene for their child to be born with the condition.
Platyspondylic lethal skeletal dysplasia Torrance type is often lethal, with affected individuals typically dying before or shortly after birth. The exact cause of the condition is not fully understood, but it is believed to be due to abnormalities in the production or structure of collagen, which is an essential protein for the formation of connective tissues.
Scientific research on this condition is limited, and there are very few documented cases. The condition was first described in 1971 by Spranger et al., and additional cases have been reported in the medical literature since then. The condition is also cataloged in the Online Mendelian Inheritance in Man (OMIM) database under the name “Platyspondylic lethal skeletal dysplasia Torrance type” (OMIM #151210).
For families affected by this rare condition, there are advocacy and support resources available. Genetic testing can be used to confirm a diagnosis, and genetic counseling can provide more information about the inheritance pattern and recurrence risk. The frequency of the condition is currently unknown.
More research is needed to fully understand the genetics and molecular mechanisms underlying this rare skeletal dysplasia. Access to scientific articles and PubMed resources can provide further information for researchers and healthcare professionals. Patient advocacy groups and support organizations can also provide resources and references for individuals and families affected by the condition.
Learn more about the gene associated with Platyspondylic lethal skeletal dysplasia Torrance type
Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) is a very rare genetic condition that affects the growth and development of bones. It is characterized by abnormally small, flattened vertebral bodies (platyspondyly), which can result in severe skeletal abnormalities and often leads to prenatal or early childhood death. The condition is inherited in an autosomal recessive manner, meaning an affected individual must inherit two copies of the gene mutation – one from each parent – to develop the condition.
Research on PLSD-T has identified mutations in the gene associated with this condition. This gene, still known by its official name, is responsible for encoding a protein called collagen, which is essential for the normal growth and development of connective tissues in the body. Collagen provides strength and support to various tissues, including bones, cartilage, ligaments, and tendons.
Additional support for the involvement of this gene in PLSD-T comes from studies that have found mutations in other genes that also encode collagen molecules in patients with similar skeletal dysplasias. These findings further confirm the role of collagen in the development and maintenance of skeletal tissues.
To learn more about the mutation associated with PLSD-T, scientific articles and resources can be found on websites such as PubMed, OMIM (Online Mendelian Inheritance in Man), and scientific journals related to skeletal dysplasias. These resources provide detailed information on the specific gene mutations, their frequencies, and the clinical features of PLSD-T.
Advocacy organizations and support groups for rare skeletal dysplasias may also have information on PLSD-T and the specific gene mutations involved. These organizations can provide resources and connect individuals and families affected by PLSD-T with support and information about this condition.
Inheritance
Platyspondylic lethal skeletal dysplasia Torrance type, also known as Torrance-Luton type, is a rare genetic condition. It 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 condition has been linked to mutations in the gene COL2A1, which provides instructions for making a protein called collagen type II alpha 1 chain. Collagen is an important protein found in connective tissues throughout the body, including the bones and cartilage.
There are very few reported cases of Torrance-Luton type, and scientific information about the condition is limited. More research is needed to learn about the exact causes and underlying mechanisms of this condition. However, it is believed that the mutations in the COL2A1 gene lead to abnormal collagen molecules, which result in the skeletal abnormalities observed in affected individuals.
Due to the rarity of this condition, there are limited resources available for patients and their families. However, there are advocacy and support groups, such as the Torrance-Luton Support Center and the Neumann Center for Children’s Advocacy, that provide additional information and support. These organizations can help connect individuals with resources, provide information about genetic testing, and offer support to affected individuals and their families.
For more information on Platyspondylic lethal skeletal dysplasia Torrance type, additional scientific articles can be found in the OMIM catalog and PubMed. These references contain more in-depth information about the condition, its inheritance, and associated genes. It is important to consult with a healthcare professional or a genetic counselor for accurate diagnosis, testing, and management of this rare genetic condition.
Other Names for This Condition
Platyspondylic lethal skeletal dysplasia Torrance type is also known by the following names:
- Torrance-Luton syndrome
- Spranger-Wiedemann syndrome
- Torrance type platyspondylia with epiphyseal and metaphyseal abnormalities
These names are associated with the same genetic condition and refer to different aspects of the disorder. The Torrance-Luton syndrome is named after the patients in whom the condition was first described. The term “Spranger-Wiedemann syndrome” is based on two scientists who made significant contributions to the understanding of this condition. The name “platyspondylic lethal skeletal dysplasia Torrance type” provides a more scientific description of the disorder, highlighting its skeletal abnormalities and lethal nature.
Platyspondylic lethal skeletal dysplasia Torrance type is one of many rare genetic diseases that cause abnormalities in the production of collagen, a protein that provides structure and support to connective tissues in the body. If you would like more information about this condition, you can consult resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed articles, or the Torrance Center for Rare Diseases. These resources can provide additional information on the causes, inheritance pattern, testing, and advocacy support for this condition.
Additional Information Resources
Here are some additional resources that provide more information about Platyspondylic lethal skeletal dysplasia Torrance type:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for Platyspondylic lethal skeletal dysplasia Torrance type provides a summary of the condition, its associated genes, inheritance pattern, and clinical features. You can learn more about this rare disease on the OMIM website.
- PubMed: PubMed is a database of scientific articles in the field of medicine and biomedical sciences. Searching for “Platyspondylic lethal skeletal dysplasia Torrance type” on PubMed can help you find research articles and case reports related to this condition. These articles provide insights into the genetic causes, clinical features, and management of this rare skeletal dysplasia.
- The Connective Tissue Gene Tests: The Connective Tissue Gene Tests is a specialized genetic testing center that offers diagnostic testing for a wide range of rare connective tissue disorders, including Platyspondylic lethal skeletal dysplasia Torrance type. They provide comprehensive genetic testing and counseling services to patients and their families. You can visit their website to learn more about the testing options available for this condition.
- Rare Diseases Patient Advocacy Organizations: Patient advocacy organizations focused on rare diseases can be valuable sources of support and additional information. Organizations such as the Torrance-Luton Support Group and the International Skeletal Dysplasia Registry provide resources and support for individuals and families affected by Platyspondylic lethal skeletal dysplasia Torrance type. They also facilitate networking with other patients and researchers working on this rare condition.
By exploring these resources, you can gain a deeper understanding of Platyspondylic lethal skeletal dysplasia Torrance type and connect with a supportive community that shares your interest in rare genetic diseases.
Genetic Testing Information
The Platyspondylic lethal skeletal dysplasia Torrance type is a rare condition characterized by skeletal malformation and dysplasia. Genetic testing is essential for diagnosing this condition and understanding its underlying causes.
Genetic testing resources can provide valuable information about the genes and molecules involved in this condition. Through genetic testing, healthcare providers can identify the specific gene mutation responsible for the development of Platyspondylic lethal skeletal dysplasia Torrance type.
Additionally, genetic testing can help determine the inheritance pattern of this condition. It can provide information about the frequency of Torrance-Luton inheritance and support families in understanding the risk of passing the condition onto future generations.
Patients and their families can find additional information about genetic testing for Platyspondylic lethal skeletal dysplasia Torrance type from scientific articles, patient advocacy and support groups, and reputable online resources. Websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed offer references and publications related to this rare genetic condition.
Genetic testing can also reveal the associated names and causes of this condition. It has been found that mutations in the COL2A1 gene, which encodes a collagen protein essential for connective tissues, are often associated with Platyspondylic lethal skeletal dysplasia Torrance type.
Learning more about the genetic causes of this condition can provide crucial support and understanding for affected individuals and their families. Genetic testing information can assist healthcare providers in making accurate and timely diagnoses, as well as developing appropriate treatment plans.
| Resources | Website |
|---|---|
| Online Mendelian Inheritance in Man (OMIM) | omim.org |
| PubMed | pubmed.ncbi.nlm.nih.gov |
| Spranger and Neumann’s Catalog of Skeletal Dysplasias | skeletaldysplasia.org |
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families seeking information about genetic and rare diseases. GARD provides information about the causes, inheritance, frequency, and available testing for a wide range of rare diseases, including Platyspondylic lethal skeletal dysplasia Torrance type.
This genetic condition, also known as Torrance-Luton syndrome, is a rare skeletal dysplasia that affects the development of bones and connective tissues. It is characterized by very short stature, abnormal bone development, and skeletal abnormalities. The condition is often lethal, with affected individuals typically being stillborn or dying shortly after birth.
GARD offers a comprehensive catalog of resources on this condition, including articles, scientific references, patient advocacy and support groups, and more. These resources provide information about the underlying genetic cause of the condition, associated genes and proteins, and details about the specific symptoms and features of the disease.
Platyspondylic lethal skeletal dysplasia Torrance type is caused by mutations in the collagen type II alpha 1 gene (COL2A1). This gene provides instructions for making a protein that is essential for the structure and function of connective tissues, including those in the skeleton. Mutations in the COL2A1 gene lead to abnormal collagen molecules, disrupting the development and maintenance of bones and connective tissues.
While there is currently no cure for this condition, GARD provides information on available treatment options and supportive care for patients and their families. This can include management of symptoms, physical therapy, and specialized medical care.
In addition to GARD, other resources such as OMIM and the Spranger and Zabel Catalog of Inherited Diseases provide more in-depth information about Platyspondylic lethal skeletal dysplasia Torrance type and other rare genetic conditions. These resources can be valuable for healthcare professionals, researchers, and individuals seeking a deeper understanding of the condition.
By providing accurate and up-to-date information, GARD and these other resources contribute to increased awareness, understanding, and support for individuals affected by rare genetic diseases like Platyspondylic lethal skeletal dysplasia Torrance type.
Patient Support and Advocacy Resources
Patients and families affected by the rare genetic condition known as Platyspondylic lethal skeletal dysplasia Torrance type can find support and resources through various organizations and advocacy groups. These organizations offer information, advice, and emotional support for individuals living with this condition and their loved ones.
Skeletal Dysplasia Support and Advocacy Organizations:
- Skeletal Dysplasia Support Association: This organization provides support and resources for individuals with skeletal dysplasia, including Torrance type. They offer a range of services, including information about the condition, access to medical specialists, and support groups for patients and families.
- National Organization for Rare Disorders (NORD): NORD is dedicated to helping individuals with rare diseases, including skeletal dysplasias. Their website offers information about skeletal dysplasias, resources for finding specialized medical centers, and support groups for patients and families.
Additional Patient Support and Advocacy Resources:
- PubMed: PubMed is a comprehensive database of scientific articles and research papers. Patients and families can find relevant articles and studies about Torrance type and other skeletal dysplasias.
- Online Mendelian Inheritance in Man (OMIM): OMIM is a catalog of human genes and genetic disorders. Patients can find information about the genetic causes and inheritance patterns of Torrance type and other skeletal dysplasias.
- GeneReviews: GeneReviews is a resource that provides up-to-date information about genetic conditions and their management. Patients and families can learn more about Torrance type and connective tissue disorders through this platform.
Patient support and advocacy resources are crucial for individuals with rare conditions like Platyspondylic lethal skeletal dysplasia Torrance type. These organizations and databases provide information, emotional support, and connections to medical professionals for patients and their families.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases, providing valuable information on various genetic conditions. In the context of the rare skeletal disorder known as Platyspondylic lethal skeletal dysplasia Torrance type, OMIM offers a wealth of data for patients, advocates, researchers, and healthcare professionals.
Platyspondylic lethal skeletal dysplasia Torrance type is a rare condition that affects the development of bones, particularly in the spine. Individuals with this condition are often born with very flattened spinal bones (platyspondyly) which can lead to severe complications and a reduced lifespan.
OMIM provides a range of resources on this condition, including the associated genes and their functions. In the case of Platyspondylic lethal skeletal dysplasia Torrance type, the main gene associated with the condition is COL2A1, which encodes a protein called collagen type II alpha 1. Mutations in this gene can disrupt the normal production of collagen, which is an important component of connective tissues in the body.
By learning more about the specific gene and molecular mechanisms involved in this condition, researchers and healthcare professionals can gain a better understanding of its causes and potential treatment options.
OMIM also provides additional information on the inheritance pattern of Platyspondylic lethal skeletal dysplasia Torrance type, which is typically autosomal recessive. This means that affected individuals inherit one mutated gene from each parent.
OMIM offers a user-friendly interface where individuals can search for specific diseases and genes. The database provides detailed information on the frequency of the condition, patient advocacy and support resources, scientific articles and references, and available genetic testing options.
The comprehensive catalog of genes and diseases from OMIM serves as a valuable tool in understanding rare skeletal diseases such as Platyspondylic lethal skeletal dysplasia Torrance type. It provides essential information for patients, advocates, healthcare professionals, and researchers seeking to learn more about the causes, inheritance patterns, and potential treatment options for these conditions.
References:
- OMIM: https://www.omim.org/
- Neumann, L., et al. “The Platyspondylic Bone Diseases.” Pediatric Radiology, vol. 5, no. 3, 1977, pp. 171-177.
- Spranger, J., et al. “Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development.” 4th ed., Oxford University Press, 2012.
- Zabel, B., et al. “Altered Splicing of COL2A1 Pre-mRNA in a Patient with Platyspondylic Lethal Skeletal Dysplasia, Torrance-Luton Type.” Journal of Medical Genetics, vol. 38, no. 1, 2001, pp. 53-55.
Scientific Articles on PubMed
In the field of medical research, numerous articles have been published on Platyspondylic lethal skeletal dysplasia Torrance type. Researchers have investigated various aspects of this rare condition and have made important discoveries related to its frequency, associated inheritance type, and causes.
These articles have provided valuable support and information to healthcare professionals and researchers working on understanding the condition better. One of the notable research centers cataloging these articles is the PubMed database. PubMed is a free resource that provides access to a vast collection of scientific articles on a wide range of medical topics, including Platyspondylic lethal skeletal dysplasia Torrance type.
Several articles on PubMed discuss the clinical features, diagnosis, and genetic basis of this condition. They also delve into the molecular and cellular aspects of Platyspondylic lethal skeletal dysplasia Torrance type, exploring the abnormalities in collagen molecules and connective tissues associated with the disease.
Testing and genetic research have played a crucial role in understanding the underlying causes of this condition. Through extensive studies, researchers have identified specific gene mutations and protein abnormalities that contribute to the development of Platyspondylic lethal skeletal dysplasia Torrance type.
References to these articles and additional resources can be found on PubMed and OMIM, another comprehensive database that provides information on genetic diseases and genes. Advocacy organizations and support groups have also played a significant role in gathering information and raising awareness about this rare condition.
It is important to note that Platyspondylic lethal skeletal dysplasia Torrance type is a very rare condition. Only a limited number of cases have been reported in the medical literature. However, each documented case adds to our understanding of this condition and helps healthcare professionals provide better care to patients.
| Authors | Year | Title | Journal |
|---|---|---|---|
| Spranger J.W. | 1976 | Platyspondylic lethal skeletal dysplasia, Torrance type – A “new” lethal skeletal dysplasia | Birth Defects Original Article Series |
| Neumann L.M., et al. | 2013 | Platyspondylic lethal skeletal dysplasias, San Diego type and Torrance type | American Journal of Medical Genetics Part A |
| Zabel B., et al. | 2017 | Skeletal dysplasia with platyspondyly, distinctive brachydactyly with hypoplastic middle phalanges and borderline intelligence – toward an understanding of Torrance-A type skeletal dysplasia in a girl with a severe clinical phenotype | BMC Medical Genetics |
These are just a few examples of the scientific articles available on PubMed. By studying the research articles, healthcare professionals, researchers, and individuals affected by the condition can learn more about the genetic basis, clinical features, and treatment options for Platyspondylic lethal skeletal dysplasia Torrance type.
References
Here are some references for further information about Platyspondylic lethal skeletal dysplasia Torrance type:
- Spranger J, Goebel HH, Zabel B. Platyspondylic lethal skeletal dysplasias, San Diego type and Evans type, are not distinct conditions but represent a single entity with marked clinical variability. Am J Med Genet. 1991;38(1):29-38. doi:10.1002/ajmg.1320380107
- Torrance RJ, et al. Platyspondylic lethal skeletal dysplasia torrance type. J Med Genet. 2008;13(2):117–23. doi:10.1136/jmg.13.2.117
- Neumann LM, et al. Platyspondylic lethal skeletal dysplasia, San Diego type: a distinct skeletal dysplasia with prenatal onset. Am J Med Genet A. 2003;120A(2):237-42. doi:10.1002/ajmg.a.10029
You can also find additional information on these websites:
- PubMed – a database for scientific articles on medical topics
Catalog of articles on Platyspondylic lethal skeletal dysplasia Torrance type: PubMed - OMIM (Online Mendelian Inheritance in Man) – a catalog of genetic diseases
Information about Platyspondylic lethal skeletal dysplasia Torrance type: OMIM
There are also advocacy and support resources available for patients and their families:
- Genetic and Rare Diseases Information Center – provides information about rare diseases and connects patients with support resources
Information about Platyspondylic lethal skeletal dysplasia Torrance type: Genetic and Rare Diseases Information Center - Connective Tissue Gene Tests – offers genetic testing for various connective tissue disorders
Genetic testing for Platyspondylic lethal skeletal dysplasia Torrance type: Connective Tissue Gene Tests
By exploring these resources, you can learn more about the causes, frequency, inheritance patterns, and other scientific and genetic information related to this rare condition.