Klippel-Feil syndrome

Klippel-Feil syndrome, a rare congenital condition, is caused by abnormal formation and fusion of the bones in the neck and spine. This leads to a range of problems, including a short, webbed neck and limited range of motion in the head and neck. The condition is characterized by the fusion of at least two vertebrae in the cervical spine, and in some cases, additional fused vertebrae in the thoracic or lumbar spine.

The exact cause of Klippel-Feil syndrome is not yet known, but research suggests that it may be genetic. Several genes, such as GDF3, GDF6, and others, have been associated with the condition. In addition, studies have shown that the inheritance pattern of Klippel-Feil syndrome can be either autosomal dominant or autosomal recessive.

Patients with Klippel-Feil syndrome often have other medical problems, such as hearing loss, heart defects, and nerve abnormalities. The condition can be diagnosed through physical examination, medical imaging, and genetic testing. More information about testing and genetic variants associated with Klippel-Feil syndrome can be found on resources like OMIM, GeneReviews, and ClinicalTrials.gov.

Treatment for Klippel-Feil syndrome focuses on managing symptoms and preventing complications. This may include physical therapy, pain management, and surgical interventions to correct spine abnormalities. It is important for patients and their families to seek support and information about the condition from advocacy organizations and research centers.

In conclusion, Klippel-Feil syndrome is a rare congenital condition characterized by abnormal fusion of the bones in the neck and spine. The exact cause of the syndrome is not yet known, but genetic factors may play a role. Patients with Klippel-Feil syndrome often have a range of medical problems, and treatment involves managing symptoms and preventing complications. More research and scientific studies are needed to learn more about the causes and treatment options for this condition.

Frequency

Klippel-Feil syndrome is a rare congenital condition characterized by the fusion of two or more vertebrae in the spine. It is also known as “KFS” or “KFS syndrome”. This abnormal formation of bones in the neck can lead to a range of problems including pain, nerve problems, and limited range of motion in the head and neck.

The frequency of Klippel-Feil syndrome is not well-established, but it is estimated to occur in about 1 in 40,000 to 42,000 births. However, it is important to note that the exact frequency may vary depending on the population studied and the diagnostic criteria used. In addition, some cases of Klippel-Feil syndrome may go undiagnosed or misdiagnosed, leading to an underestimation of its true frequency.

Klippel-Feil syndrome is associated with genetic abnormalities, and several genes have been implicated in its development. Mutations in the GDF6 and GDF3 genes, which encode proteins involved in the formation of bones and other tissues, are known to cause Klippel-Feil syndrome. However, these genes account for only a small percentage of cases, suggesting that other genes and genetic factors may also play a role in the development of this condition.

Further research and genetic testing are needed to better understand the causes and inheritance of Klippel-Feil syndrome. In addition, studies on the association of Klippel-Feil syndrome with other diseases and conditions may provide further insights into its underlying mechanisms and potential treatments.

For more information on Klippel-Feil syndrome, you can visit the Klippel-Feil Syndrome Advocacy & Support Center website or refer to scientific articles and studies available on PubMed. The Klippel-Feil Syndrome Support Group also provides information and support for patients and their families.

In addition, clinical trials may be available for individuals with Klippel-Feil syndrome. ClinicalTrials.gov is a useful resource to learn about ongoing research studies and trials related to this condition.

Additional information about Klippel-Feil syndrome:

Causes

The causes of Klippel-Feil syndrome are not yet fully understood. However, research has identified certain genetic factors that play a role in the development of the condition.

Studies have shown that mutations in the GDF3 and GDF6 genes can cause Klippel-Feil syndrome. These genes provide instructions for producing proteins that are involved in the formation of bones and other tissues in the head, neck, and spine.

In addition to genetic factors, Klippel-Feil syndrome can also be caused by other conditions or events during fetal development. For example, problems with the formation of the vertebral bones during early pregnancy can lead to the fusion of multiple vertebrae in the neck.

Furthermore, some cases of Klippel-Feil syndrome may be associated with other genetic disorders or syndromes. The exact relationship between these conditions is not yet fully understood and further research is needed.

The inheritance pattern of Klippel-Feil syndrome can vary. In some cases, the condition is inherited in an autosomal dominant pattern, meaning an affected individual has a 50% chance of passing the mutated gene to each of their children. In other cases, the condition may occur sporadically, without any family history.

For more information about the causes of Klippel-Feil syndrome, additional resources can be found at medical research databases such as OMIM, PubMed, and ClinicalTrials.gov. These resources provide scientific articles, clinical studies, and genetic testing information that can further expand knowledge about the causes and associated diseases of Klippel-Feil syndrome.

Learn more about the genes associated with Klippel-Feil syndrome

Klippel-Feil syndrome is a rare congenital condition that affects the formation of the spine. It is characterized by the fusion of two or more vertebrae in the neck, resulting in a short neck and limited range of motion. This condition can cause a range of problems, including back pain and neurological symptoms.

Research has shown that Klippel-Feil syndrome can be caused by mutations in certain genes. These genetic mutations affect the production or function of proteins that are important for the normal development of the spine.

In addition to the genetic causes of Klippel-Feil syndrome, there are also other factors that may contribute to its development. Environmental factors, such as exposure to certain drugs or chemicals during pregnancy, have been suggested as possible causes. However, more research is needed to understand the exact role these factors play in the development of this condition.

Several genes have been identified as being associated with Klippel-Feil syndrome. The GDF3 gene, which encodes a protein involved in the formation of the spine, has been found to be mutated in some patients with the condition. Another gene, GDF6, has also been associated with Klippel-Feil syndrome.

More information about these genes and their role in Klippel-Feil syndrome can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide detailed information about the genes, their inheritance patterns, and the frequency of mutations in patients with the syndrome.

In addition to genetic testing, clinical studies and research articles can provide valuable information about the condition. They may describe new findings, treatment strategies, or ways to manage the symptoms of Klippel-Feil syndrome.

The Klippel-Feil Syndrome Advocacy and Support Center provides resources, support, and advocacy for patients and families affected by this rare condition. Their website and patient registry can provide further information and support.

References:

Inheritance

The Klippel-Feil syndrome is a rare genetic condition that is usually present at birth. Studies have shown that it is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing on the condition to each of his or her children.

See Also:  MSTN gene

Genetic testing can be done to confirm a diagnosis of Klippel-Feil syndrome. From the scientific studies and research available, it is known that mutations in the GDF3 and GDF6 genes are associated with this syndrome. These genes provide instructions for making proteins that are involved in the development of the bones and spine.

During embryonic development, the bones in the neck and spine may fail to properly separate and become fused together. This fusion leads to a range of problems, including limited range of motion in the neck and sometimes painful nerve compression. In addition to this, there can be other associated abnormalities affecting various systems in the body.

The frequency of Klippel-Feil syndrome in the general population is not well established. However, it is considered to be a rare condition. More research is needed to learn about the causes and inheritance of this syndrome.

In addition to genetic testing, other resources such as the OMIM database, PubMed, and the Online Mendelian Inheritance in Man (OMIM) can provide more information about Klippel-Feil syndrome. These resources often include scientific articles, case reports, and information from the Klippel-Feil Syndrome Advocacy and Support Center. Further references can be found in the Klippel-Feil Syndrome Knowledgebase and Registry.

Other Names for This Condition

Klippel-Feil syndrome is a rare condition that is also known by other names:

  • KFS
  • Congenital fused cervical vertebrae
  • Cervical vertebral fusion syndrome
  • Klippel-Feil sequence
  • Cervical fusion syndrome

This condition is characterized by the fusion of two or more bones in the neck, which can cause a range of problems and abnormalities. Klippel-Feil syndrome is usually present at birth and can be associated with other congenital conditions.

For more information about Klippel-Feil syndrome, visit the Genetics Home Reference website.

Additional resources, including information for patients and advocacy organizations, can be found at the National Organization for Rare Disorders website.

Additional Information Resources

Here are some additional resources that can provide more information about Klippel-Feil syndrome.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of human genes and genetic disorders, including information on Klippel-Feil syndrome. You can access the OMIM entry on Klippel-Feil syndrome using the following citation:

    “Klippel-Feil Syndrome.” OMIM Entry #118100. Updated December 17, 2020. Available at: https://omim.org/entry/118100

  • PubMed: PubMed is a database of scientific articles and research studies. You can find many articles about Klippel-Feil syndrome by searching for the condition’s name. Some studies focus on the genetic causes and frequency of the syndrome, while others discuss clinical trials and treatment options. To learn more about Klippel-Feil syndrome on PubMed, visit: https://pubmed.ncbi.nlm.nih.gov/?term=Klippel-Feil+syndrome

  • Genetics Home Reference: The Genetics Home Reference website provides consumer-friendly information about the effects of genetic variation on human health. Their entry on Klippel-Feil syndrome includes an overview of the condition, information on the genes associated with it, and links to additional resources. You can access the Genetics Home Reference page on Klippel-Feil syndrome here: https://ghr.nlm.nih.gov/condition/klippel-feil-syndrome

  • Klippel-Feil Syndrome Foundation: The Klippel-Feil Syndrome Foundation is a non-profit advocacy organization dedicated to supporting individuals with Klippel-Feil syndrome and their families. Their website offers information about the condition, resources for patients, and opportunities to connect with others in the Klippel-Feil community. To learn more about the Klippel-Feil Syndrome Foundation, visit: http://www.klippel-feil.org/

These resources provide a range of information on Klippel-Feil syndrome, from genetic causes and clinical studies to patient support and advocacy.

Genetic Testing Information

Genetic testing is a valuable tool for understanding the Klippel-Feil syndrome. It helps to identify the specific genetic mutations associated with the condition, which can provide information about inheritance patterns and potential complications.

Genes play a crucial role in the development and formation of the neck bones (vertebrae), and any abnormalities in these genes can lead to the Klippel-Feil syndrome. In most cases, the syndrome is caused by mutations in the GDF6 or GDF3 genes, which are involved in the formation of the bones in the neck and other parts of the body.

Genetic testing can be done to detect these mutations and provide a more accurate diagnosis. It can also help in identifying other associated conditions or diseases that may be present in individuals with Klippel-Feil syndrome.

Patients and their families can benefit from genetic testing by learning about the frequency of the condition, the chances of passing it on to future generations, and the potential complications that may arise. Genetic counseling and advocacy organizations can provide support and resources to those affected by the condition.

In addition, scientific studies and research articles are available that provide more information about the causes and genetic factors related to Klippel-Feil syndrome. PubMed, a renowned scientific research center, is a valuable resource for finding these articles and learning about the latest advancements in genetic testing and understanding of the syndrome.

Genetic testing can also help in clinical trials and studies aimed at finding better treatments or management strategies for the syndrome. ClinicalTrials.gov is a reliable source for information about ongoing trials and studies in the field of Klippel-Feil syndrome.

It is important to note that genetic testing is not a routine part of the diagnosis process for Klippel-Feil syndrome. However, it can provide valuable information that can help in patient management and treatment decisions.

Genetic testing information should always be accompanied by proper references and citations. The Klippel-Feil Syndrome Alliance, a trusted advocacy and support organization, can provide a catalog of resources and references for patients and healthcare professionals seeking more information about this condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and funded by the National Institutes of Health (NIH). GARD provides reliable, up-to-date, and comprehensive information about genetic and rare diseases to patients, their families, healthcare professionals, and the public.

One of the genetic conditions that GARD provides information about is Klippel-Feil syndrome. Klippel-Feil syndrome is a rare congenital condition characterized by the abnormal fusion of two or more bones in the neck. This fusion can lead to a range of problems, including nerve and spine issues, as well as pain and limitations in movement.

To learn more about Klippel-Feil syndrome, GARD offers several resources, including articles about the condition, information on the associated genes, and additional references.

The GARD website features a comprehensive catalog of genetic and rare diseases, where users can search for information about a specific condition. The catalog provides descriptions, synonyms, associated genes, and scientific references for each disease.

GARD also provides information on genetic testing, advocacy organizations, and research studies related to Klippel-Feil syndrome and other rare diseases. Users can access testing information to learn about available genetic tests to confirm a diagnosis, as well as information about research studies and clinical trials that they may be eligible to participate in.

Additionally, GARD has a registry that allows individuals with rare diseases to connect with researchers and participate in studies. The registry aims to improve understanding of rare diseases and facilitate the development of new treatments.

GARD is a valuable resource for anyone seeking accurate and reliable information about genetic and rare diseases. With its comprehensive database, up-to-date articles, and support for research, GARD plays a crucial role in advancing knowledge and understanding of rare genetic conditions like Klippel-Feil syndrome.

Patient Support and Advocacy Resources

Patients who have Klippel-Feil syndrome can benefit from a variety of support and advocacy resources. These resources can provide information, assistance, and community for individuals and families affected by this rare genetic condition.

One such resource is the Klippel-Feil Syndrome Alliance (KFSA) which provides support and advocacy for those diagnosed with Klippel-Feil syndrome. The KFSA offers information about the condition, resources for genetic testing and diagnosis, and a supportive community for patients and their families.

See Also:  MECP2 gene

In addition to the KFSA, there are other organizations and websites that provide valuable information and support. These include:

  • The National Organization for Rare Disorders (NORD) provides information about Klippel-Feil syndrome, its causes, and treatment options. NORD also offers resources for finding specialists, clinical trials, and support groups.
  • The Genetic and Rare Diseases Information Center (GARD) offers a comprehensive overview of Klippel-Feil syndrome, including information on genetic testing, symptoms, and treatment. GARD provides a wide range of resources for patients and their families.
  • The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genes, genetic conditions, and related research. Patients can access articles, references, and genetic testing information for Klippel-Feil syndrome.
  • The National Institutes of Health (NIH) maintains a patient registry for Klippel-Feil syndrome, which collects medical information from individuals affected by the condition. This registry helps researchers learn more about the condition and develop new treatment strategies.
  • The ClinicalTrials.gov website provides information about ongoing clinical trials for Klippel-Feil syndrome. Patients can learn about potential research studies and their eligibility to participate.

It is important for patients and their families to utilize these resources to stay informed and connected with the latest developments in Klippel-Feil syndrome research and treatment. By accessing these organizations and websites, individuals can gain a better understanding of the condition, find support from others who share similar experiences, and access resources to help manage the challenges associated with Klippel-Feil syndrome.

Research Studies from ClinicalTrials.gov

References: Klippel-Feil syndrome is a rare congenital condition characterized by the fusion of two or more bones in the neck. It is caused by mutations in the GDF6 and GDF3 genes. Inheritance of Klippel-Feil syndrome can be autosomal dominant or sporadic. The condition can lead to a range of problems, including abnormal formation of the bones in the neck, nerve problems, and other associated birth defects.

ClinicalTrials.gov provides a comprehensive catalog of scientific research studies related to Klippel-Feil syndrome. These studies aim to understand the genetic basis of the syndrome, explore potential treatments, and improve patient care and support.

  • Genetic Studies: Several studies focus on identifying genetic mutations associated with Klippel-Feil syndrome. Researchers aim to identify additional genes that may be involved, as well as understand their frequency and inheritance patterns.
  • Testing and Diagnosis: Research studies also investigate better testing methods for diagnosing Klippel-Feil syndrome. This includes the development of new genetic testing techniques to detect mutations in affected individuals.
  • Treatment and Management: Clinical trials explore potential treatments for relieving symptoms associated with Klippel-Feil syndrome, such as pain management and surgical interventions. The studies aim to improve the quality of life for patients with the syndrome.
  • Advocacy and Support: In addition to scientific research, ClinicalTrials.gov provides information and resources for advocacy groups and support centers dedicated to Klippel-Feil syndrome. These resources offer additional information, support, and patient registry services.

For more information and scientific articles on Klippel-Feil syndrome, you can visit the OMIM database or search PubMed using keywords related to the condition. These sources provide additional information on diagnosis, genetic testing, and treatment options for patients with Klippel-Feil syndrome.

Catalog of Genes and Diseases from OMIM

The Klippel-Feil syndrome is a rare congenital condition characterized by the fusion of two or more vertebral bones in the neck.

The condition is associated with abnormalities in certain genes. Here is a catalog of genes and diseases related to Klippel-Feil syndrome from the Online Mendelian Inheritance in Man (OMIM) registry:

  • Gene: GDF6
  • Disease: Klippel-Feil syndrome 1 (KFS1)
  • Inheritance: Autosomal dominant
  • Additional Information: Learn more about the GDF6 gene and its role in Klippel-Feil syndrome from OMIM.
  • Gene: GDF3
  • Disease: Klippel-Feil syndrome 2 (KFS2)
  • Inheritance: Autosomal recessive
  • Additional Information: Learn more about the GDF3 gene and its role in Klippel-Feil syndrome from OMIM.

In addition to these genes, there may be other genes and genetic factors associated with Klippel-Feil syndrome that have not yet been identified.

Studies have shown that mutations in these genes can lead to abnormal formation of the spine during birth, causing the fusion of vertebral bones. This fusion can lead to a range of symptoms, including neck and spine abnormalities, head and facial abnormalities, and nerve-related issues.

If you suspect that you or someone you know may have Klippel-Feil syndrome, genetic testing can help confirm the diagnosis. Genetic testing can be arranged through a medical center or genetics clinic. Additionally, there are advocacy groups and support organizations that can provide more information and resources for patients and their families.

For more scientific articles and references about Klippel-Feil syndrome, you can search the PubMed database, which is a comprehensive resource for scientific literature in the field of genetics and genomics.

For information on ongoing clinical trials related to Klippel-Feil syndrome, you can visit the ClinicalTrials.gov website.

In conclusion, the catalog of genes and diseases from OMIM provides valuable information about Klippel-Feil syndrome and its genetic basis. By understanding the genes involved in this condition, researchers and clinicians can work towards better diagnosis, treatment options, and support for patients.

Scientific Articles on PubMed

When seeking information about Klippel-Feil syndrome, PubMed is a valuable resource. PubMed is a database that contains a vast collection of scientific articles and research studies on various medical topics. Here, you can find comprehensive information, including the citation and references of the articles, along with the names of the authors and more.

Klippel-Feil syndrome is a rare congenital condition characterized by the fusion of two or more vertebrae in the neck. It can be caused by genetic mutations during fetal development, leading to abnormal formation of the bones in the spine. PubMed provides a catalog of articles and research studies on this condition, offering valuable insights into its causes, inheritance patterns, and associated clinical outcomes.

Many studies have focused on identifying the specific genes involved in Klippel-Feil syndrome. Researchers have discovered various genes, such as GDF3 and GDF6, that play a role in the development of the spine and are associated with this syndrome. By studying these genes, scientists hope to learn more about the underlying mechanisms of the disease and find potential targets for treatment.

In addition to providing information about Klippel-Feil syndrome itself, PubMed also offers resources on other related topics. For instance, you can find articles on the painful neck and back problems often experienced by patients with this condition. Furthermore, you can learn about advocacy and support groups that provide assistance to individuals with Klippel-Feil syndrome and their families.

If you are interested in participating in clinical trials or genetic testing related to Klippel-Feil syndrome, PubMed is an excellent starting point for finding such opportunities. The database contains information on ongoing research and studies, some of which may be looking for participants.

In summary, PubMed is a valuable resource for accessing scientific articles and research studies about Klippel-Feil syndrome. It provides information about the genetic causes, clinical presentations, and management options for this rare condition. Whether you are a patient, researcher, or healthcare professional, PubMed can be an invaluable tool for expanding your knowledge and staying updated on the latest advancements in Klippel-Feil syndrome research.

References

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