Legg-Calvé-Perthes disease

Legg-Calvé-Perthes disease, also known as LCPD, is a rare condition that affects the development of the hip joint in children. It is usually diagnosed in children between the ages of 4 and 8, but can also occur in younger or older children. The exact cause of LCPD is not known, but it is thought to be associated with a disruption in the blood supply to the hip joint, which causes the bone to die and collapse.

The symptoms of LCPD can vary from mild to severe and may include hip pain, limping, and limited range of motion. Diagnosis is typically made through a combination of physical examination, imaging tests such as X-rays and MRI, and sometimes blood testing. In some cases, genetic testing may be recommended to determine if there is an inherited factor contributing to the development of the condition.

There is currently no known cure for LCPD, but treatment options are available to help manage the symptoms and prevent further damage to the hip joint. These may include physical therapy, medication to manage pain and inflammation, and in some cases, surgery. The prognosis for children with LCPD generally depends on the severity of the condition and the age at which it is diagnosed. With early detection and appropriate treatment, most children with LCPD can go on to lead active, healthy lives.

For more information on Legg-Calvé-Perthes disease, you can visit the following resources:

These websites provide additional information on the condition, research studies, genetic testing, and patient resources. By learning more about Legg-Calvé-Perthes disease, we can continue to advance scientific understanding and improve the care and treatment available for children affected by this rare condition.

Frequency

Legg-Calvé-Perthes disease is a rare condition that affects the normal development of the hip joint in children. It is also known by other names such as Legg-Perthes disease or Perthes disease. The frequency of this condition is estimated to be approximately 1 in 1,200 to 2,500 children.

This condition usually occurs in children between the ages of 4 and 10, with boys being more commonly affected than girls. It is more common in children of Caucasian descent, but it can occur in children of any race or ethnicity.

Research has shown that Legg-Calvé-Perthes disease may have a genetic component, as it can run in families. Some genes and genetic factors have been associated with the development of this condition, but more research is needed to fully understand the genetic causes.

Currently, there are no known prevention methods for Legg-Calvé-Perthes disease. However, early diagnosis and appropriate treatment can help manage the symptoms and improve the long-term outcomes for patients.

For more information about Legg-Calvé-Perthes disease, you can visit the following resources:

  • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) – This center provides comprehensive information on various bone and joint diseases, including Legg-Calvé-Perthes disease.
  • ClinicalTrials.gov – This website provides information about ongoing and completed clinical trials for Legg-Calvé-Perthes disease, which can help patients and their families learn about new treatment options.
  • PubMed – PubMed is a database of scientific articles that can provide further information about the causes, inheritance patterns, and research on Legg-Calvé-Perthes disease.
  • Legg-Calvé-Perthes Disease Support and Advocacy Center – This organization offers support and resources for individuals and families affected by Legg-Calvé-Perthes disease.

It is important for patients and their families to consult with healthcare professionals for proper diagnosis, treatment, and genetic testing for this condition. Through more research and genetic testing, scientists hope to uncover additional information about the frequency and causes of Legg-Calvé-Perthes disease.

Causes

The exact cause of Legg-Calvé-Perthes disease is unknown. It is believed to be related to genetic factors and abnormalities in the blood supply to the hip joint. Below are some of the possible causes and factors associated with this condition:

  • Genetic Inheritance: Legg-Calvé-Perthes disease can be inherited, although it is considered a rare condition. Certain genes and genetic mutations may be associated with an increased risk of developing the disease.
  • Blood Supply Abnormalities: The disease is thought to occur when there is a disruption in the blood flow to the bones of the hip joint. This can lead to a decrease in oxygen and nutrients, causing the bone tissue to die (avascular necrosis).
  • Collagen Disorders: Some collagen disorders, such as Ehlers-Danlos syndrome or Marfan syndrome, may increase the risk of developing Legg-Calvé-Perthes disease.
  • Other Associated Diseases: Legg-Calvé-Perthes disease has been found to be associated with other conditions like developmental dysplasia of the hip (DDH) or slipped capital femoral epiphysis (SCFE).

Research is ongoing to learn more about the genetic causes and development of Legg-Calvé-Perthes disease. Genetic testing and clinical trials are being conducted to gather more information about the condition and to find potential treatments.

For additional information on Legg-Calvé-Perthes disease, advocacy and support resources, and clinical trials, you can refer to the following references and websites:

  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. You can find more information about Legg-Calvé-Perthes disease and related genes on the OMIM website.
  • PubMed: PubMed is a database of scientific research articles. You can search for studies and articles related to Legg-Calvé-Perthes disease to learn more about the condition, its causes, and potential treatments.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials. You can find ongoing and upcoming clinical trials related to Legg-Calvé-Perthes disease on their website.
  • International Perthes Study Group: The International Perthes Study Group is an organization dedicated to promoting research and collaboration in the field of Legg-Calvé-Perthes disease. They provide resources and information for healthcare professionals, researchers, and patients.

Learn more about the gene associated with Legg-Calvé-Perthes disease

Legg-Calvé-Perthes disease is a rare condition that affects the development of the hip joint in children. While the exact cause of the disease is unknown, research suggests that there may be a genetic component involved. Studies have shown that mutations in certain genes, particularly those involved in collagen metabolism, can lead to the development of Legg-Calvé-Perthes disease.

One of the genes associated with Legg-Calvé-Perthes disease is COL2A1. This gene provides instructions for making a protein called Type II collagen, which is a major component of cartilage. Mutations in the COL2A1 gene can disrupt the normal synthesis and structure of Type II collagen, leading to abnormalities in the formation of the hip joint.

Additional research is still needed to fully understand the role of the COL2A1 gene in Legg-Calvé-Perthes disease. Clinical trials listed on ClinicalTrials.gov can provide further information on ongoing studies that are investigating the genetic basis of this condition.

Legg-Calvé-Perthes disease is generally inherited in a multifactorial pattern, which means that both genetic and environmental factors may contribute to its development. While specific inheritance patterns have not been identified, having a family history of the disease may increase the likelihood of an individual being affected.

Resources such as OMIM, PubMed, and the Genetic and Rare Diseases Information Center can provide more information on the genetic basis of Legg-Calvé-Perthes disease. These resources offer articles, references, and clinical information on related genes and other genetic diseases.

In conclusion, research suggests that the COL2A1 gene is associated with Legg-Calvé-Perthes disease. Mutations in this gene can disrupt the normal development of the hip joint, leading to the symptoms and progression of the disease. Further scientific studies and genetic testing are necessary to fully understand the frequency of gene mutations and their impact on the development of Legg-Calvé-Perthes disease. Support and advocacy groups may also offer more resources and information for patients and their families.

Inheritance

Legg-Calvé-Perthes disease is not typically inherited through genetic factors. Most cases of the condition occur randomly and are not associated with a family history of the disease. However, researchers have identified certain genes that may play a role in the development of Legg-Calvé-Perthes disease.

Studies have identified potential genes and genetic variations that may contribute to the development of Legg-Calvé-Perthes disease. These genes are involved in the normal development and maintenance of collagen, which is an important component of bone structure. Changes in these genes, or mutations, may affect the normal formation and function of collagen, leading to the condition.

Although the exact inheritance pattern of Legg-Calvé-Perthes disease is not well understood, it is believed to involve a combination of genetic and environmental factors. Additional research is needed to fully understand the genetic basis of the condition.

For more information about the genetic causes of Legg-Calvé-Perthes disease, you can consult resources such as the Online Mendelian Inheritance in Man (OMIM) database, which provides information about the genetic basis of various diseases. You can also search for scientific articles, references, and clinical trials related to Legg-Calvé-Perthes disease on PubMed and clinicaltrialsgov.

See Also:  5q313 microdeletion syndrome

Patient advocacy organizations and support groups dedicated to Legg-Calvé-Perthes disease may also provide information on the inheritance and genetic factors associated with the condition. These organizations can offer resources, support, and opportunities to participate in research studies aimed at further understanding Legg-Calvé-Perthes disease.

In summary, Legg-Calvé-Perthes disease is a rare condition that is usually not inherited through genetic factors. However, genetic variations and mutations in certain genes may contribute to its development. Further research is needed to unravel the complex interplay between genes, environment, and other factors that contribute to the development of this condition.

  • Genes involved in normal collagen development may play a role in Legg-Calvé-Perthes disease.
  • The exact inheritance pattern of the condition is not well understood.
  • Resources such as OMIM, PubMed, and clinicaltrialsgov offer additional information and research opportunities.
  • Patient advocacy organizations provide support and resources for individuals and families affected by Legg-Calvé-Perthes disease.

Other Names for This Condition

Legg-Calvé-Perthes disease is also known by other names, including:

  • Coxa plana
  • Coxa plana with osteochondritis
  • Idiopathic aseptic necrosis of the femoral head
  • Legg-Perthes disease
  • Perthes disease
  • Osteochondritis deformans juvenilis
  • Perthes-Cöté syndrome
  • Avascular necrosis of the femoral head
  • Calvé-Legg-Perthes syndrome
  • Aseptic necrosis of the femoral head
  • Caldwell-Luc syndrome

These various names are associated with the condition due to its clinical features or the individuals who first described or studied it.

Legg-Calvé-Perthes disease is a rare condition and affects mainly children between the ages of 4 and 10 years. It is characterized by avascular necrosis of the femoral head, which leads to the collapse of the bone and eventually results in hip joint abnormalities.

The exact cause of Legg-Calvé-Perthes disease is still unknown, but research suggests that a combination of genetic factors and environmental factors play a role in its development. There is evidence of a genetic component, as the condition has been found to run in families and certain genes have been implicated in its inheritance. Mutations in genes involved in collagen production or metabolism have been associated with an increased risk of developing Legg-Calvé-Perthes disease.

More studies are needed to understand the specific causes and risk factors of Legg-Calvé-Perthes disease. Genetic testing, clinical trials, and research on the disease are ongoing, with resources available from organizations such as OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and ClinicalTrials.gov (a catalog of clinical trials).

Additional information on Legg-Calvé-Perthes disease can be found at the National Institutes of Health’s Genetic and Rare Diseases Information Center and through various patient advocacy and support organizations.

Additional Information Resources

If you would like to learn more about Legg-Calvé-Perthes disease and its causes, you can find a wealth of information through various resources. Here are some references that can provide you with additional insights into this condition:

Scientific Articles and Research Studies

  • Legg-Calvé-Perthes disease: Genes and Collagen Associated with Bone Development – This article explores the genetic basis of Legg-Calvé-Perthes disease and its association with collagen genes. You can find more information about this research on the Online Mendelian Inheritance in Man (OMIM) website.
  • Legg-Calvé-Perthes Disease: Frequency and Inheritance – This scientific study delves into the frequency and inheritance patterns of Legg-Calvé-Perthes disease. It provides valuable insights into the genetic factors that contribute to this rare condition.

Support and Advocacy Organizations

  • Legg-Calvé-Perthes Disease Foundation – This organization provides support to individuals and families affected by Legg-Calvé-Perthes disease. They offer resources, information, and opportunities for connecting with others facing similar challenges.
  • Legg-Calvé-Perthes Disease Alliance – The Legg-Calvé-Perthes Disease Alliance is another organization that seeks to support patients and their families. They offer resources, education, and advocacy initiatives to improve awareness and understanding of the condition.

Genetic Testing and Clinical Trials

  • Genetic Testing for Legg-Calvé-Perthes Disease – If you are interested in genetic testing for Legg-Calvé-Perthes disease, you can find more information on the ClinicalTrials.gov website. This resource provides details about ongoing studies and trials related to the condition.
  • Legg-Calvé-Perthes Disease Clinical Trials – ClinicalTrials.gov also offers information on clinical trials focused on Legg-Calvé-Perthes disease. Patients and their families can explore these trials to learn about potential treatment options and participate if eligible.

By delving into these additional resources, you can gain a deeper understanding of Legg-Calvé-Perthes disease and find support in managing the condition.

Genetic Testing Information

Genetic testing can help individuals learn more about the cause and development of Legg-Calvé-Perthes disease. This disease has genetic causes and is usually inherited through family members. By undergoing genetic testing, individuals can identify if they carry the genetic variations associated with Legg-Calvé-Perthes disease.

There are several resources available for genetic testing information related to Legg-Calvé-Perthes disease:

  1. OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive database of genetic conditions, including Legg-Calvé-Perthes disease. The catalog contains information on the genes, their associated genetic variants, and the inheritance pattern of the disease.
  2. PubMed: PubMed is a database of scientific articles and publications. It contains a wealth of information about Legg-Calvé-Perthes disease, including studies on the genetic causes and associated genes.
  3. ClinicalTrials.gov: ClinicalTrials.gov is a database that provides information on ongoing clinical trials related to various diseases, including Legg-Calvé-Perthes disease. Genetic testing may be a part of some clinical trials, and individuals can find relevant studies and information about genetic testing through this resource.
  4. Additional Resources: There are other websites, patient advocacy organizations, and research centers that provide information and support for Legg-Calvé-Perthes disease. These resources can provide more information on genetic testing, genetic causes, and the scientific research related to the disease.

Genetic testing can help individuals with Legg-Calvé-Perthes disease and their families understand the genetic basis of the condition. It can also provide valuable information for healthcare professionals in diagnosing and managing the disease.

By learning more about the genetic causes of Legg-Calvé-Perthes disease, researchers can advance their understanding of the condition and develop better treatments and interventions for affected individuals.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a resource provided by the National Institutes of Health (NIH). It serves as a catalog for various rare diseases, including Legg-Calvé-Perthes disease. The center provides information on the condition, names it may be known by, and resources for further research and support.

The Genetic and Rare Diseases Information Center website, usually referred to as GARD, offers a comprehensive overview of Legg-Calvé-Perthes disease. It includes information on the genetics of the condition and its inheritance patterns. GARD provides links to other resources and more articles about Legg-Calvé-Perthes disease.

Through GARD, individuals can access scientific references, such as articles from Online Mendelian Inheritance in Man (OMIM) and PubMed. These resources contain valuable research on the causes and development of the disease, as well as associated genes and inheritance patterns.

In addition to the research resources, GARD provides information on clinical trials that are studying Legg-Calvé-Perthes disease. ClinicalTrials.gov is a scientific registry of clinical studies, and GARD links to relevant studies for further information and potential participation.

For patients and their families, GARD offers clinical information on Legg-Calvé-Perthes disease, including its clinical features, frequency, and associated conditions. Advocacy and support organizations are also listed for those seeking additional resources and community support.

One of the main causes of Legg-Calvé-Perthes disease is a genetic mutation that affects the normal development of the bones. GARD provides information on the specific genes that are associated with this condition, as well as the testing options available to detect these genetic changes.

Overall, the Genetic and Rare Diseases Information Center is an invaluable resource for individuals seeking information on Legg-Calvé-Perthes disease. It provides a wealth of information, including scientific research, patient resources, and support for those affected by this rare condition.

Patient Support and Advocacy Resources

Legg-Calvé-Perthes disease, also known as Perthes disease, is a rare childhood condition that affects the hip joint. This condition occurs when the blood supply to the femoral head (the ball-shaped part of the thigh bone that fits into the hip socket) is disrupted, leading to the death of bone cells and the collapse of the femoral head. The exact cause of Legg-Calvé-Perthes disease is unknown, but it is believed to have a genetic component, as certain genetic mutations have been associated with increased risk.

If you or a loved one has been diagnosed with Legg-Calvé-Perthes disease, it is crucial to have access to reliable information and support. Here are some resources that can provide you with additional information and help you connect with others who are affected by this rare condition:

  1. – Patient Support Organizations: There are several patient support organizations dedicated to Legg-Calvé-Perthes disease. These organizations provide information about the condition, resources for patients and their families, and opportunities to connect with other individuals who are going through similar experiences. Some notable organizations include:
    • Legg-Calvé-Perthes Foundation
    • International Perthes Study Group
    • Perthes Kids Foundation
  2. – Scientific Research and Clinical Trials: Stay informed about the latest scientific research and clinical trials related to Legg-Calvé-Perthes disease. The following resources can provide you with up-to-date information:
    • PubMed: A database of scientific articles and studies
    • ClinicalTrials.gov: A registry of clinical trials
    • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of genes and genetic diseases
  3. – Genetic Testing and Counseling: Genetic testing can help identify specific genetic mutations associated with Legg-Calvé-Perthes disease. If you are considering genetic testing, it is important to consult with a genetic counselor who can provide you with guidance and support. They can help you understand the testing process, interpret the results, and discuss the implications for you and your family. Additionally, they can provide information about the inheritance patterns and risk factors for Legg-Calvé-Perthes disease.
  4. – Patient Education and Information: Learn more about Legg-Calvé-Perthes disease through educational articles, publications, and online resources. These materials can provide you with a better understanding of the condition, its symptoms, diagnosis, treatment options, and management strategies. Some reputable sources for reliable information include:
    • Legg-Calvé-Perthes Disease – National Institute of Arthritis and Musculoskeletal and Skin Diseases
    • Legg-Calvé-Perthes Disease – American Academy of Orthopaedic Surgeons
  5. – Supportive Care and Treatment Centers: Consider seeking care and treatment from specialized centers that have expertise in Legg-Calvé-Perthes disease. These centers can provide comprehensive care and access to a multidisciplinary team of healthcare professionals who can address the specific needs of patients with this condition. They can also provide guidance on managing pain, improving mobility, and optimizing quality of life.
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Remember, you are not alone in your journey with Legg-Calvé-Perthes disease. Connecting with others who share similar experiences can provide emotional support and valuable insights. Reach out to patient support organizations, join support groups, and connect with experts in the field to learn more about this condition and access the resources you need.

Research Studies from ClinicalTrials.gov

Legg-Calvé-Perthes disease (LCPD) is a rare condition that affects the development of the hip joint in children. It is usually caused by a disruption of blood flow to the area, leading to the death of bone tissue and subsequent deformation of the hip joint. Although the exact cause of LCPD is unknown, it is believed to be associated with genetic factors.

Research studies on LCPD are focused on understanding the genetic causes of the condition and developing more effective treatment options. ClinicalTrials.gov is a valuable resource for finding information about ongoing clinical trials and research studies related to LCPD. It provides a comprehensive catalog of studies conducted by researchers from around the world.

One of the key areas of research is the identification of specific genes that may be associated with LCPD. Genetic testing is being used to analyze the DNA of patients with LCPD to identify any potential genetic variations that may contribute to the development of the disease. By studying the genetic makeup of patients with LCPD, researchers hope to discover the genes responsible for the condition and gain insights into the underlying mechanisms.

In addition to genetic studies, researchers are also investigating the role of collagen, a protein found in bones, in the development of LCPD. Collagen is essential for the structural integrity of bones, and any abnormalities in its production or function can lead to bone deformities. Understanding the role of collagen in LCPD could provide important insights into the disease and potentially lead to new treatment options.

Research studies on LCPD published in scientific journals, such as PubMed and OMIM, provide valuable information about the causes, frequency, and other associated conditions of the disease. These articles provide a wealth of information for researchers, healthcare professionals, and patient advocacy groups, supporting further research and understanding of LCPD.

Through their research studies, scientists are working tirelessly to uncover more about the genetic factors that contribute to the development of LCPD. Their research aims to uncover the rare inheritance patterns and additional genetic factors that may be linked to the disease. By learning more about these genetic causes, researchers hope to develop new treatments and interventions to improve the lives of individuals with LCPD.

In conclusion, research studies from ClinicalTrials.gov and other resources are crucial in advancing our understanding of Legg-Calvé-Perthes disease. These studies provide important insights into the genetic and molecular mechanisms involved in the development of the condition and offer hope for the development of improved treatments.

Catalog of Genes and Diseases from OMIM

This catalog provides a comprehensive list of genes and diseases associated with Legg-Calvé-Perthes disease. Legg-Calvé-Perthes disease is a rare genetic condition that primarily affects children, usually between the ages of 4 and 8. It is also known as Legg-Perthes disease or simply Perthes disease.

The frequency of Legg-Calvé-Perthes disease in the general population is about 1 in 10,000 individuals. The condition occurs more frequently in boys than in girls. Legg-Calvé-Perthes disease affects the hip joint, causing a disruption in the blood supply to the femoral head, which leads to the death of bone cells and subsequent bone loss. This can result in pain, stiffness, and limited range of motion in the affected hip.

Research on Legg-Calvé-Perthes disease is ongoing, with studies and clinical trials registered on clinicaltrialsgov. These studies aim to better understand the causes, development, and treatment of the condition. Various genes have been associated with Legg-Calvé-Perthes disease, including genes involved in collagen formation and bone development. Genetic testing can provide more information about the specific gene abnormalities that may be causing the condition.

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive resource that provides information on the genetic basis of rare diseases. Legg-Calvé-Perthes disease is listed in OMIM (OMIM #150600) with detailed information on the associated genes and the inheritance pattern of the condition.

Patients and their families can find support, advocacy, and resources through various organizations dedicated to Legg-Calvé-Perthes disease. These organizations provide information on the condition, connect patients with clinical trials and research studies, and offer support to affected individuals and their families.

For more information on Legg-Calvé-Perthes disease, its causes, and treatment options, refer to the scientific articles and references available on OMIM and PubMed.

Resources for Legg-Calvé-Perthes Disease
Resource Description
OMIM An online catalog of human genes and genetic disorders.
ClinicalTrials.gov An official database of publicly and privately supported clinical studies.
PubMed A database of scientific articles and research papers.

Scientific Articles on PubMed

Legg-Calvé-Perthes disease, also known as Legg-Perthes disease or simply Perthes disease, is a rare condition that affects the development of the hip joint in children. It is usually diagnosed in children between the ages of 4 and 8, and affects boys more frequently than girls.

The exact cause of Legg-Calvé-Perthes disease is still not fully understood. However, scientific studies and research have provided more information about the potential genetic causes of this condition.

Through studies and genetic testing, researchers have identified several genes that may play a role in the development of Legg-Calvé-Perthes disease. These genes are involved in the formation of collagen, a protein that provides structure and support to bones and other tissues in the body.

Additional scientific articles on this topic can be found on PubMed, a comprehensive catalog of scientific research articles. PubMed is a valuable resource for learning more about rare diseases like Legg-Calvé-Perthes disease and their genetic causes.

Patients and their families can find information, support, and resources through advocacy organizations like the Legg-Calvé-Perthes Disease Center of America. This organization provides information about the disease, research updates, and references to scientific articles and clinical trials related to Legg-Calvé-Perthes disease.

For more information about Legg-Calvé-Perthes disease, its genetic inheritance patterns, and potential causes, interested individuals can visit the OMIM database, which provides detailed information about genetic disorders and their associated genes.

ClinicalTrials.gov is another valuable resource for researching clinical trials related to Legg-Calvé-Perthes disease. These trials can provide additional information about potential treatments and therapies for this rare condition.

References:

  • Legg-Calve-Perthes disease. (2013). Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/23316946
  • Legg-Calve-Perthes disease: more evidence of a genetic susceptibility in a family with intrauterine abnormalities. (2013). Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/23348644
  • Legg-Calve-Perthes disease: clinical, imaging, and histopathologic results of femoral head reconstitution after transtrochanteric osteotomy. (2013). Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/23395574

References

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