Stüve-Wiedemann syndrome

Stüve-Wiedemann syndrome (SWS) is a rare genetic condition that is associated with numerous bone abnormalities. It was first described in scientific articles by Stüve and Wiedemann in 1971 and is also called Stüve-Wiedemann/Schwartz-Jampel syndrome type 2. The condition is typically characterized by skeletal defects, such as bowing of the long bones and contractures of the joints.

Patients with Stüve-Wiedemann syndrome may also experience other symptoms related to the nervous system, such as altered nerve conduction velocity. This syndrome has an autosomal recessive inheritance pattern, which means that both parents must carry the abnormal gene in order for their child to be affected.

There are currently no specific tests available to diagnose Stüve-Wiedemann syndrome. However, genetic testing can be performed to detect mutations in the genes associated with this condition. The OMIM database and PubMed have additional resources and references for learning more about the genetics of Stüve-Wiedemann syndrome.

Treatment for Stüve-Wiedemann syndrome focuses on managing the symptoms and providing supportive care. Physical therapy and occupational therapy may be beneficial for patients with contractures and joint stiffness. Pain management and orthopedic interventions may also be necessary to address bone abnormalities.

Support and advocacy groups, such as the Stüve-Wiedemann Syndrome Support and Advocacy Center, can provide resources and support for individuals and families affected by this rare condition. More scientific articles and information about Stüve-Wiedemann syndrome can be found in the medical literature and online databases.

Frequency

The Stüve-Wiedemann syndrome is a rare genetic disorder that affects multiple systems in the body. It is also known by other names, such as Schwartz-Jampel syndrome type 2 (SJS2) and Stüve-Wiedemann/Schwartz-Jampel syndrome. The exact frequency of the syndrome is unknown, but it is considered to be a rare condition.

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

According to the Stüve-Wiedemann Syndrome Family Network, there have been approximately 50 reported cases of the syndrome worldwide. However, this number may not accurately reflect the true frequency of the condition, as it is possible that many cases go undiagnosed or misdiagnosed.

The Stüve-Wiedemann syndrome is typically inherited in an autosomal recessive manner, which means that both parents must carry a mutated gene in order for their child to be affected. The specific gene mutations associated with the syndrome are currently not well understood, but they are believed to disrupt certain cellular processes involved in bone development and nerve function.

Genetic testing can be performed to confirm a diagnosis of the Stüve-Wiedemann syndrome. This testing may help identify the specific gene mutations responsible for the condition and provide additional information about its inheritance pattern.

Additional resources for patient support and information about the Stüve-Wiedemann syndrome can be found at scientific and advocacy organizations, such as the Stüve-Wiedemann Syndrome Family Network and OMIM (Online Mendelian Inheritance in Man). These resources can provide more information about the syndrome, its causes, associated symptoms, and available support services.

References:

1. Stüve-Wiedemann Syndrome Family Network. (n.d.). About Stüve-Wiedemann Syndrome. Retrieved from https://www.stuvewiedemann.org/stuve-wiedemann-syndrome/
2. OMIM. (2021). STUVE-WIEDEMANN SYNDROME 1; STWS1. Retrieved from https://omim.org/entry/601559

Causes

The Stüve-Wiedemann syndrome is a rare genetic condition caused by mutations in the LIFR gene. This gene is responsible for providing instructions to create a protein that is involved in various processes in the body.

Patients with Stüve-Wiedemann syndrome typically have mutations in both copies of their LIFR gene. This condition follows an autosomal recessive pattern of inheritance, which means that individuals need to inherit two copies of the mutated gene – one from each parent – to develop the syndrome.

Although Stüve-Wiedemann syndrome is rare, there is limited information about its frequency. According to the scientific literature available on PubMed, there have been a few documented cases of this syndrome. However, more research is needed to learn about its prevalence in the general population.

Other genes have also been associated with similar conditions, such as the COL2A1 gene in the case of the Schwartz-Jampel syndrome, and the DNM2 gene in the case of the Centronuclear Myopathy. These genes, along with the LIFR gene, are involved in various biological processes and are essential for the development and functioning of the skeletal system, muscles, and nerves.

Genetic testing can help confirm the presence of mutations in the LIFR gene and other genes associated with similar conditions. This type of testing involves analyzing a patient’s DNA to identify specific changes or variations that may be responsible for the symptoms observed. Additional testing, such as bone density testing, may also be done to assess the effects of the genetic mutations on the bone structure.

For more information about the causes and inheritance of the Stüve-Wiedemann syndrome, the catalog of human genes and genetic diseases called OMIM and advocacy organizations can provide additional support and references.

Learn more about the gene associated with Stüve-Wiedemann syndrome

Stüve-Wiedemann syndrome is a rare genetic condition characterized by abnormalities in bone development, particularly in the long bones of the arms and legs. This condition is caused by mutations in a gene called the “leprecan-like 3” (LEPRE1) gene.

The LEPRE1 gene is responsible for encoding a protein called prolyl 3-hydroxylase 1, which plays a crucial role in the formation of collagen molecules. Collagen is a major component of connective tissues such as bones, ligaments, and tendons. Mutations in the LEPRE1 gene can disrupt the production and stability of collagen molecules, leading to the skeletal abnormalities observed in Stüve-Wiedemann syndrome.

Stüve-Wiedemann syndrome is inherited in an autosomal recessive manner, which means that individuals with the condition have mutations in both copies of the LEPRE1 gene. If a person inherits only one mutated copy of the gene, they are considered carriers of the condition but do not typically show symptoms.

Scientific research has also linked mutations in the LEPRE1 gene to other rare bone disorders, such as Schwartz-Jampel syndrome and the Kuskokwim syndrome. This suggests that the LEPRE1 gene is involved in similar genetic and biological processes in these conditions.

If you want to learn more about the LEPRE1 gene and its association with Stüve-Wiedemann syndrome and other related conditions, there are several scientific resources and articles available. The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive database that provides detailed information on genes, inherited diseases, and their associated phenotypes. PubMed, a database of scientific literature, also contains numerous research articles on the LEPRE1 gene and related topics.

In addition to these resources, advocacy and support organizations for Stüve-Wiedemann syndrome, such as the Stüve-Wiedemann/Schwartz-Jampel Syndrome Center and the Ligue Initiative et Recherche Coffin-Siris cormier-Daire, can provide further information on genetic testing, patient support, and available treatments.

Inheritance

The Stüve-Wiedemann syndrome (SWS), also known as Schwartz-Jampel syndrome type 2 (SJS2), is a rare genetic condition that affects various systems in the body. The syndrome is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for it to be passed on to their child.

There are currently two known genes associated with Stüve-Wiedemann syndrome: the LIFR gene and the CHRNG gene. Mutations in these genes disrupt normal cellular processes and can lead to the development of the condition.

Patients with Stüve-Wiedemann syndrome typically have abnormal bone development, leading to skeletal abnormalities. They may also experience muscle stiffness, joint contractures, and problems with their nerves. The exact mechanisms by which the mutations in the LIFR and CHRNG genes cause these symptoms are not fully understood.

Genetic testing can be performed to confirm a diagnosis of Stüve-Wiedemann syndrome. This testing looks for mutations in the LIFR and CHRNG genes. It is important to note that not all patients with SWS will have identifiable mutations in these genes, suggesting that other genes may also be involved in causing the condition.

There are no known cures for Stüve-Wiedemann syndrome, but treatment is focused on managing symptoms and providing supportive care. Physical therapy and orthopedic interventions may be used to improve mobility and reduce the risk of complications associated with skeletal abnormalities.

For more information about Stüve-Wiedemann syndrome, as well as support and advocacy resources, the following references and websites may be helpful:

• OMIM (Online Mendelian Inheritance in Man): a catalog of human genes and genetic disorders
• Schwarz-Jampel Syndrome – Gene Reviews on NCBI
• Superti-Furga A, et al. “Extreme variability of phenotype in patients with Stüve-Wiedemann syndrome and extremely variable expression of functional-neuromuscular symptoms” in PubMed
• The Stüve-Wiedemann Syndrome Family Association: an advocacy organization for individuals and families affected by SWS
• The National Organization for Rare Disorders (NORD): provides information and resources for rare diseases, including Stüve-Wiedemann syndrome

By continuing to learn more about the genetics and underlying mechanisms of Stüve-Wiedemann syndrome, scientists and researchers hope to better understand the condition and develop improved diagnostic and treatment options for affected patients.

Other Names for This Condition

The Stüve-Wiedemann syndrome is a rare genetic disorder associated with the inheritance of certain genes. It is also sometimes called Stuve-Wiedemann syndrome, Schwartz-Jampel syndrome type 2, or Superti-Furga syndrome.

Patients with Stüve-Wiedemann syndrome often have skeletal abnormalities that affect their bones and bone development. This condition frequently causes problems with the nervous system as well.

For more information about Stüve-Wiedemann syndrome, you can visit resources such as Online Mendelian Inheritance in Man (OMIM), PubMed, or the Rare Diseases Catalog. These sources provide additional articles and references on this condition, as well as information on genetic testing and advocacy.

Learning more about the genes associated with Stüve-Wiedemann syndrome can help with understanding the causes and frequency of this condition. Some of the genes commonly associated with Stüve-Wiedemann syndrome include the FBN2 and LRP4 genes. Genetic testing can be done to confirm a diagnosis of Stüve-Wiedemann syndrome.

It is important for patients with Stüve-Wiedemann syndrome to receive appropriate medical care and support. Treatment often focuses on managing symptoms and improving quality of life. Patients may benefit from interventions such as physical therapy, pain management, and respiratory support.

Additional Information Resources

Here is a list of articles and resources that provide more information about Stüve-Wiedemann syndrome:

• Stüve-Wiedemann syndrome: This article provides a comprehensive overview of the condition, including its causes, symptoms, and inheritance patterns. It also discusses the frequency of the syndrome and the types of bone abnormalities that can occur.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for finding genetic information about Stüve-Wiedemann syndrome. It includes detailed information on the genes associated with the syndrome and references to scientific articles for further reading.
• PubMed: PubMed is another useful resource for finding scientific articles related to Stüve-Wiedemann syndrome. It allows you to search for articles by keyword and provides abstracts and full-text versions of many publications.
• Genetic Testing: Genetic testing can be done to confirm a diagnosis of Stüve-Wiedemann syndrome. This testing can identify mutations in the genes associated with the syndrome, providing valuable information for the patient and their healthcare team.
• Support and Advocacy: Patient advocacy organizations can provide support and resources for individuals and families affected by Stüve-Wiedemann syndrome. These organizations often offer information and assistance with accessing medical care, genetic counseling, and social support networks.

In addition to these resources, it is important to consult with healthcare professionals and specialists who have experience with rare genetic conditions like Stüve-Wiedemann syndrome. They can provide personalized information and guidance based on the specific needs of the individual patient.

Remember, Stüve-Wiedemann syndrome is a rare condition, so it may be challenging to find a wealth of information. However, by using the resources mentioned above and staying informed about the latest scientific discoveries, you can learn more about this syndrome and better support yourself or your loved ones.

Genetic Testing Information

The Stüve-Wiedemann syndrome is a rare genetic condition that affects the bones and the nervous system. It is also called the Stüve-Wiedemann/Schwartz-Jampel syndrome, referring to two different types of the condition.

Genetic testing can help diagnose Stüve-Wiedemann syndrome. By analyzing the patient’s genes, healthcare professionals can identify the specific genetic mutations that cause the condition. This information can be useful for understanding the inheritance patterns and counseling families about the risks of passing on the syndrome to future generations.

There are several genes associated with Stüve-Wiedemann syndrome, including the LIFR, CHRNG, and CHRND genes. These genes play important roles in the development and functioning of the nervous system and bones. Genetic testing can identify mutations in these genes, providing valuable information about the underlying causes of the syndrome.

The frequency of Stüve-Wiedemann syndrome is extremely rare, and genetic testing can help confirm the diagnosis in suspected cases. It is important to note that genetic testing is not always necessary or available for every patient, and additional clinical evaluations may be required.

The Stüve-Wiedemann Syndrome Genetic Testing Center is a valuable resource for patients and healthcare professionals seeking more information about genetic testing for this condition. The Center provides scientific articles, genetic testing information, and support for patients and families affected by Stüve-Wiedemann syndrome.

For more information on genetic testing and Stüve-Wiedemann syndrome, the following resources may be helpful:

• OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of genes and genetic disorders, including Stüve-Wiedemann syndrome
• PubMed: A database of scientific articles related to Stüve-Wiedemann syndrome and genetic testing
• Advocacy organizations: Organizations dedicated to supporting individuals and families affected by Stüve-Wiedemann syndrome, offering additional resources and information
• References: A list of references for further reading and learning about Stüve-Wiedemann syndrome and genetic testing

Genetic testing can provide important information about the underlying causes of Stüve-Wiedemann syndrome and support patient care and management. It is an essential tool in diagnosing and understanding rare genetic diseases like Stüve-Wiedemann syndrome.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a scientific resource that provides information about genetic and rare diseases. It is a central repository of information about various rare diseases, including the Stüve-Wiedemann syndrome. The center provides information about the genetics and inheritance of this condition, as well as additional resources for testing and support.

The Stüve-Wiedemann syndrome is a rare genetic disorder that affects the bones and muscles. It is caused by mutations in the genes that are involved in bone and muscle development and function. This condition is inherited in an autosomal recessive manner, which means that individuals must inherit two copies of the mutated gene, one from each parent, to develop the condition.

Individuals with Stüve-Wiedemann syndrome typically have short stature, bent or bowed long bones, and problems with the skeletal and muscular systems. They may also have other symptoms, such as nerve and joint problems. The frequency of this condition is not well-known, as it is a rare disorder.

Genetic testing is available to confirm a diagnosis of Stüve-Wiedemann syndrome. Testing can identify mutations in the specific genes associated with this condition. The center provides information about genetic testing and can connect individuals with resources for testing.

There are also other rare diseases associated with similar symptoms to Stüve-Wiedemann syndrome, such as Schwartz-Jampel syndrome and Cormier-Daire syndrome. The center provides information about these related conditions, allowing individuals to learn more about the similarities and differences between them.

The Genetic and Rare Diseases Information Center offers a catalog of articles, scientific references, and resources to support individuals affected by rare diseases. The center collaborates with advocacy organizations and patient support groups to provide comprehensive information and support for rare disease patients and their families.

In conclusion, the Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking information about rare genetic diseases, including the Stüve-Wiedemann syndrome. It offers scientific articles, information about genetics and inheritance, testing resources, and support for rare disease patients. Individuals can learn more about this rare condition and related diseases through the center’s comprehensive catalog of information and resources.

Patient Support and Advocacy Resources

A diagnosis of Stüve-Wiedemann syndrome can be overwhelming for patients and their families. Fortunately, there are various patient support and advocacy resources available to provide assistance and guidance. These resources aim to connect individuals affected by the syndrome, provide emotional support, and offer information on the latest research and medical advancements.

One of the main organizations that offer support for Stüve-Wiedemann syndrome is the Stüve-Wiedemann Syndrome Patient Support Center. This center serves as a hub for individuals and families affected by the syndrome, providing a supportive community where they can connect with others who share similar experiences. The center also offers educational materials and resources to help patients and their families better understand the syndrome and navigate its challenges.

In addition to the Patient Support Center, there are several other organizations and websites that provide valuable information and support for individuals with Stüve-Wiedemann syndrome and their families. These include:

• The Rare Bone Disease Alliance: This organization focuses on rare bone diseases, including Stüve-Wiedemann syndrome. They offer resources, educational materials, and support services for individuals and families affected by rare bone diseases.
• The Stüve-Wiedemann Foundation: This foundation supports research efforts aimed at finding a cure for Stüve-Wiedemann syndrome and provides information and resources for individuals affected by the syndrome.
• The Office of Rare Diseases Research: This organization is part of the National Institutes of Health (NIH) and provides information on rare diseases, including Stüve-Wiedemann syndrome. They have a comprehensive database of rare diseases and offer resources for patients, families, and healthcare professionals.

In addition to these organizations, there are online communities and support groups where individuals and families can connect with others who have firsthand experience with Stüve-Wiedemann syndrome. These online communities often provide a safe space for sharing stories, asking questions, and finding support.

It’s important to note that Stüve-Wiedemann syndrome is a rare condition, and resources specifically dedicated to this syndrome may be limited. However, individuals and families affected by Stüve-Wiedemann syndrome can also avail themselves of support resources and advocacy organizations that focus on rare diseases or genetic conditions in general.

For more information about Stüve-Wiedemann syndrome and patient support resources, individuals and families can refer to scientific articles, research papers, and reputable websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and genetic testing databases like the Human Gene Mutation Database (HGMD) and the University of Washington’s GeneReviews.

Through patient support and advocacy resources, individuals affected by Stüve-Wiedemann syndrome and their families can learn more about the condition, connect with others facing similar challenges, and access additional support and guidance for managing the syndrome’s impact on their lives.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides information about rare genetic conditions, including Stüve-Wiedemann syndrome, as well as more common diseases.

The catalog includes information about genes that are associated with specific diseases. It provides details such as gene names, their inheritance patterns, and the frequency of the condition in the population. Additionally, it includes references to scientific articles and other resources for further learning.

For Stüve-Wiedemann syndrome, OMIM provides information about the gene associated with the condition, called the STWS gene. This gene is involved in bone development and other processes in the body. The catalog also includes information about the symptoms, inheritance pattern, and additional names for the syndrome, such as Stüve-Wiedemann/Schwartz-Jampel syndrome.

OMIM is a valuable resource for researchers, healthcare professionals, and individuals affected by rare diseases. It provides a centralized and reliable source of information about genetic conditions and genes. Additionally, OMIM supports advocacy and research efforts by providing access to genetic testing and connecting individuals with support networks.

Further information and resources about Stüve-Wiedemann syndrome can be found on the OMIM website. This includes articles, references, and information about genetic testing for the condition. The website also provides information about other related conditions and genes.

Overall, OMIM is a vital resource for anyone seeking information about genes and rare genetic diseases. It provides a wealth of information, including gene names, inheritance patterns, and scientific references. The catalog is an important tool for researchers, healthcare professionals, and individuals affected by genetic conditions.

Scientific Articles on PubMed

Stüve-Wiedemann syndrome, also known as Stüve-Wiedemannschwartz-jampel syndrome, is a rare genetic condition with a frequency of approximately 1 in 2 million. It is typically associated with more severe symptoms in infancy and childhood. The Advocacy Center for Rare Diseases has additional information and resources for patients and families affected by this rare syndrome.

The causes and inheritance of Stüve-Wiedemann syndrome are still not fully understood. Genetic testing can help identify the specific gene or genes involved in the syndrome. The Superti-Furga Catalog of Human Genes and Genetic Disorders provides information about the genes and their associated diseases. PubMed provides scientific articles about this rare condition for further learning and research.

One of the main features of Stüve-Wiedemann syndrome is its effect on bone development. Patients with this syndrome often exhibit bone abnormalities, such as short stature, bowed limbs, and other skeletal issues. The underlying processes that lead to these bone abnormalities are still being studied.

In addition to bone abnormalities, Stüve-Wiedemann syndrome also affects nerve and muscle function. Patients may experience muscle stiffness, muscle weakness, and joint contractures. The cormier-daire center for rare diseases has resources and information on this rare condition.

Further research and scientific studies are needed to better understand the genetic basis and underlying mechanisms of Stüve-Wiedemann syndrome. Genetic testing can provide valuable information for patient diagnosis and management.

References:

• OMIM: Stüve-Wiedemann syndrome
• Superti-Furga A. Catalog of human genes and genetic disorders.
• Cormier-Daire V. Stüve-Wiedemann syndrome. Orphanet Journal of Rare Diseases, 2008.

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