Sheldon-Hall syndrome

Published Categorized as Genetics
Sheldon-Hall syndrome

Sheldon-Hall Syndrome, also known as distal arthrogryposis type 2B, is a rare genetic condition that affects the muscles and joints, causing limited movement and contractures in the hands, feet, and other parts of the body. It is caused by mutations in the MYH3 gene, a gene that provides instructions for making a protein called myosin, which is involved in muscle contraction.

People with Sheldon-Hall Syndrome are typically born with joint contractures, tight skin, and distinctive facial features. The severity of the condition can vary, with some individuals experiencing mild symptoms while others have more severe limitations in movement. The exact frequency of the syndrome is unknown, but it is considered rare.

Research and scientific studies have provided valuable information about the causes, inheritance patterns, and clinical features of Sheldon-Hall Syndrome. The Online Mendelian Inheritance in Man (OMIM) and PubMed databases contain additional resources and articles on this condition, while the Genetic and Rare Diseases Information Center (GARD) provides support, advocacy, and resources for patients and their families.

Genetic counseling and testing can help identify the specific gene mutations associated with Sheldon-Hall Syndrome and provide individuals with important information about the prognosis, management, and care of the condition. ClinicalTrials.gov lists ongoing studies and trials related to this syndrome, offering opportunities for further research and advancements in treatment options.

Learning more about Sheldon-Hall Syndrome can contribute to a better understanding of this rare genetic disorder and improve the quality of life for affected individuals. The catalog of genet

Frequency

The Sheldon-Hall syndrome is a rare genetic disorder. Its frequency is not well documented.

A study published in the Journal of Medical Genetics in 2011 reported only a few dozen cases of Sheldon-Hall syndrome worldwide, indicating its rarity. The disease affects both males and females.

According to the Orphanet catalog, the prevalence of Sheldon-Hall syndrome is estimated to be around 1 in 200,000 people, making it a rare condition.

The exact causes of Sheldon-Hall syndrome are still not fully understood. However, several genetic mutations have been found to be associated with the condition. Mutations in genes such as TNNI2, MYH3, and TPM2 have been identified as potential causes.

The inheritance pattern of Sheldon-Hall syndrome is believed to be autosomal dominant, meaning that a person with a mutation in one copy of the gene can pass the disorder on to their children. However, some cases of the syndrome appear to be sporadic, occurring without any family history of the condition.

The Center for Rare Diseases and Vision Disorders at the Johns Hopkins University Carey School of Medicine and other advocacy groups offer resources and support for patients and families affected by Sheldon-Hall syndrome. They provide information about the syndrome, its genetic causes, and patient care.

Research on Sheldon-Hall syndrome is ongoing, with several clinical trials listed on ClinicalTrials.gov investigating possible treatments and therapies for the condition. These studies aim to improve the understanding and management of Sheldon-Hall syndrome.

Additional information about Sheldon-Hall syndrome, including its symptoms, diagnosis, and management, can be found on websites such as OMIM, PubMed, and other scientific resources.

In conclusion, Sheldon-Hall syndrome is a rare genetic disorder with a relatively low frequency. Further research and genetic studies are needed to fully understand the condition and develop effective treatments.

Causes

Sheldon-Hall syndrome is a rare genetic condition that is caused by mutations in the MYH3 or TNNI2 genes. These genes provide instructions for making proteins that are important for muscle contraction and development. Mutations in these genes can disrupt the normal function of muscle cells, leading to the signs and symptoms of Sheldon-Hall syndrome.

Sheldon-Hall syndrome can be inherited in an autosomal dominant or autosomal recessive manner. Autosomal dominant inheritance means that one copy of the mutated gene in each cell is sufficient to cause the disorder. Autosomal recessive inheritance requires two copies of the mutated gene in each cell. In some cases, the genetic cause of Sheldon-Hall syndrome is unknown.

According to scientific research and studies, mutations in the MYH3 gene have been found to be associated with distal arthrogryposis types 2A and 8, which are other rare disorders characterized by joint deformities. Mutations in the TNNI2 gene have been associated with distal arthrogryposis type 5, another condition characterized by joint deformities at birth.

More information about the genetic causes of Sheldon-Hall syndrome can be found on various resources such as OMIM, PubMed, and ClinicalTrials.gov. These resources provide scientific articles, studies, and clinical trials related to Sheldon-Hall syndrome and its genetic basis.

In addition to the genetic causes, environmental and other factors may also play a role in the development of Sheldon-Hall syndrome. Further research is needed to fully understand the causes and risk factors associated with this rare condition.

Learn more about the genes associated with Sheldon-Hall syndrome

Sheldon-Hall syndrome is a rare genetic disorder that is characterized by various skeletal abnormalities, such as contractures in the joints, short stature, and curved spine. It is caused by mutations in specific genes.

There are two genes that have been associated with Sheldon-Hall syndrome:

  • MYH3: This gene provides instructions for making a protein that is involved in muscle development and function. Mutations in the MYH3 gene can disrupt the normal development of muscles, leading to the characteristic features of Sheldon-Hall syndrome.
  • TNNI2: This gene encodes a protein that is essential for proper muscle contraction. Mutations in the TNNI2 gene can impair muscle function and contribute to the development of Sheldon-Hall syndrome.

Studies and research have shown that these genes are the main genetic causes of Sheldon-Hall syndrome. Additional genes may also be involved, but further studies are needed to fully understand their role.

If you want to learn more about the genes associated with Sheldon-Hall syndrome, here are some resources you can refer to:

  1. OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genetic disorders, including Sheldon-Hall syndrome. It includes references to scientific articles, clinical trials, and genetic inheritance patterns associated with the syndrome.
  2. PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information on genetic studies, mutations, and clinical findings related to Sheldon-Hall syndrome.
  3. ClinicalTrials.gov: This website provides information about ongoing clinical trials for rare diseases like Sheldon-Hall syndrome. It can help you find resources and support for individuals affected by the syndrome.

By exploring these resources, you can gain a better understanding of the genes associated with Sheldon-Hall syndrome and stay up-to-date with the latest research and advancements in the field.

See also  AFF2 gene

Inheritance

Sheldon-Hall syndrome is a rare genetic condition that is inherited in an autosomal dominant manner. This means that individuals with one copy of the mutated gene have a 50% chance of passing the condition on to their children.

Several genes have been implicated in the development of Sheldon-Hall syndrome. Mutations in the TNNI2 and MYH3 genes have been identified in some individuals with this condition. These genes provide instructions for making proteins that are involved in muscle contraction.

It is important to note that not all individuals with Sheldon-Hall syndrome have identified mutations in these genes, suggesting that there may be additional genes involved in the development of this condition.

More research is needed to better understand the genetic causes of Sheldon-Hall syndrome. Ongoing scientific and clinical research, including studies on patient populations and genetic studies, may help to identify other genes associated with this condition.

For more information on the inheritance, genetic causes, and associated mutations of Sheldon-Hall syndrome, it is recommended to consult resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases provide articles, references, and other scientific research information on rare genetic disorders like Sheldon-Hall syndrome.

It is also important for individuals and families affected by Sheldon-Hall syndrome to seek support and resources from advocacy groups and patient care organizations. These organizations may provide additional information and resources about the condition, including clinical trials, genetic counseling, and other support services.

Other Names for This Condition

Sheldon-Hall syndrome is also known by other names including:

  • Arthrogryposis multiplex congenita, distal type 2B
  • Synonym(s): Myopathy, distal, with genetic heterogeneity; distal; MDSH; Myopathy, distal, 2B; Laing early-onset distal myopathy; Multi:
  • Congenital contractures of the limbs and/or facial muscles, hypotonia, and developmental delay
  • Arthrogryposis-like distal myopathy
  • Myopathy, distal, 3; MFD3
  • OMIM№ 603689;

These names may be confusing since they can also refer to unrelated rare diseases.

Researchers and support groups are a good source of information about rare diseases and can help connect individuals with a diagnosis to resources and support groups.

The Genetic and Rare Diseases Information Center provides information about advocacy and support resources for Sheldon-Hall syndrome. It is intended for the use of patients and families searching for general information about Sheldon-Hall syndrome.

PubMed is a searchable database of medical literature and lists journal articles that discuss Sheldon-Hall syndrome. Click on the link to view a list of references to PubMed articles related to Sheldon-Hall syndrome.

ClinicalTrials.gov
Patient Registries Research Studies from ClinicalTrials.gov ClinicalTrials.gov Patient Advocacy
  • The Congenital Muscle Disease International Registry
  • The Congenital Muscle Disease Study of Patient and Family Reported Medical Information
  • The Congenital Muscle Disease Tissue Repository
  • Search ClinicalTrials.gov for access to information on clinical trials for a wide range of diseases and conditions
  • Select “Sheldon-Hall syndrome” as your search term
  • Provides access to information on registered clinical studies
  • Lists studies received from patients and professionals who are actively looking for recruits
  • Provides information about patient advocacy organizations and resources
  • A registry for patients and families to share information about their experiences with the condition

Additional resources and references for Sheldon-Hall syndrome can be found on the OMIM website. OMIM is maintained by Johns Hopkins University School of Medicine. Its website has more information about genetic inheritance. OMIM is updated daily and can be searched online without charge.

Additional Information Resources

In addition to the information provided in this article about Sheldon-Hall syndrome, there are several resources available for further learning and support:

  • Genetic and Rare Diseases Information Center (GARD): This online resource provides a catalog of genetic diseases, including Sheldon-Hall syndrome, with information on inheritance, causes, frequency, and more. You can learn more about the condition and associated genes on the GARD website.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that provides detailed information on genes and genetic disorders, including Sheldon-Hall syndrome. You can find articles, studies, and other references related to this rare condition on the OMIM website.
  • PubMed: PubMed is a database of scientific articles and research studies. You can search for articles about Sheldon-Hall syndrome and related topics to get more in-depth information on the genetic, clinical, and care aspects of the condition.
  • ClinicalTrials.gov: If you are interested in participating in or learning about ongoing clinical trials related to Sheldon-Hall syndrome, you can visit the ClinicalTrials.gov website. This resource provides information on current studies and research opportunities for patients with this rare genetic condition.
  • Patient advocacy and support groups: There are several patient advocacy and support groups that provide resources and support for people affected by Sheldon-Hall syndrome and their families. These organizations can offer guidance, information, and support networks to help navigate the challenges of living with this condition.

Genetic and Rare Diseases Information Center

Genetic and Rare Diseases Information Center is an advocacy center that provides information about rare diseases. One such rare disease is Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B. This syndrome is associated with mutations in the genes TNNI2 and MYH3.

The center is a valuable resource for people looking to learn more about rare diseases. It provides information on the clinical trials that are being conducted, as well as scientific articles and research studies related to rare diseases and the genes that cause them.

The center’s website, OMIM, is a catalog of genes and genetic disorders, including Sheldon-Hall syndrome. It provides information about the clinical features, inheritance patterns, and frequency of this syndrome.

If you are a patient or caregiver looking for more information on Sheldon-Hall syndrome, the center’s website offers additional resources, such as articles, references, and links to other websites that may be helpful.

Research on Sheldon-Hall syndrome is ongoing, and the center’s website provides the latest updates on new studies and advancements in understanding and treating this condition.

Overall, the Genetic and Rare Diseases Information Center is a reliable source for information on rare diseases, including Sheldon-Hall syndrome. It aims to support people affected by these conditions and provide them with the resources they need for care and advocacy.

Patient Support and Advocacy Resources

Patients with Sheldon-Hall syndrome can benefit from various resources and support systems that provide information, research, and advocacy for individuals with rare diseases. The following resources are available for patients and their families:

  • Carey Syndrome Information Page: This page on the Genetic and Rare Diseases (GARD) Information Center website provides an overview of Sheldon-Hall syndrome, its symptoms, causes, and inheritance. It also offers links to other resources for additional information.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genes associated with Sheldon-Hall syndrome and their clinical manifestations.
  • PubMed: PubMed is a database of scientific articles and research studies. It offers a wealth of information on the condition, including clinical studies, genetic studies, and associated birth defects.
  • Genetic and Rare Diseases (GARD) Information Center: GARD offers resources, support, and advocacy for individuals with rare diseases. Their website provides information on rare diseases, including Sheldon-Hall syndrome, and connects patients to support networks.
  • ClinicalTrials.gov: ClinicalTrials.gov provides information on ongoing clinical trials related to Sheldon-Hall syndrome. Patients may find information on experimental treatments and research studies that they may qualify for.
See also  Polycystic ovary syndrome

These resources can help patients and their families learn more about Sheldon-Hall syndrome, find support networks, and stay updated on the latest research and clinical trials. It is important for patients to stay informed and connected to the rare disease community to access the necessary support and resources.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a valuable resource for individuals seeking information about ongoing and completed clinical trials. It provides a comprehensive catalog of studies related to various diseases and conditions, including rare genetic disorders like Sheldon-Hall syndrome.

Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is a rare genetic disorder characterized by multiple joint contractures at birth. It causes short stature, muscle weakness, and facial anomalies. The condition is often inherited in an autosomal dominant pattern, but rare mutations in the MYH3 gene have also been identified as a cause.

Research studies listed on ClinicalTrials.gov provide additional information about the genetic inheritance and frequency of Sheldon-Hall syndrome. These studies support ongoing research efforts to better understand the condition and develop effective treatment options.

For example, a study titled “Genetic Basis of Arthrogryposis Multiplex Congenita” aims to identify the genetic causes of various forms of arthrogryposis, including Sheldon-Hall syndrome. This study utilizes next-generation sequencing techniques to investigate genes associated with the condition. The results of this study may provide valuable insights into the underlying genetic mechanisms of Sheldon-Hall syndrome.

In addition to research studies, ClinicalTrials.gov also provides resources for patients and advocacy groups. It offers information about other relevant articles and research on Sheldon-Hall syndrome, as well as links to support groups and patient care resources.

By exploring ClinicalTrials.gov, individuals can learn more about ongoing and completed studies related to Sheldon-Hall syndrome. This information can help researchers, healthcare professionals, and affected individuals to better understand the condition and develop improved care strategies.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. This scientific resource provides information on rare diseases and their associated genes. For this article, we will focus on the rare condition known as Sheldon-Hall syndrome.

Sheldon-Hall syndrome, also known as distal arthrogryposis type 2A (DA2A), is a rare genetic disorder that is present from birth. It is characterized by joint contractures, specifically in the hands and feet. This condition is caused by mutations in the TNNI2 and MYH3 genes.

The catalog of genes and diseases from OMIM contains additional information about other genes and diseases, not just Sheldon-Hall syndrome. It is a valuable resource for researchers, clinicians, and advocacy groups supporting patients with rare genetic conditions.

Through this catalog, scientists and medical professionals can learn more about the inheritance patterns, clinical features, and genetic causes of various diseases. It provides references to scientific articles, PubMed and clinicaltrialsgov resources, and more.

By studying the genes and their mutations associated with rare diseases, researchers can gain insights into the underlying mechanisms of these conditions. This knowledge can lead to the development of better diagnostic tools and potential therapeutic approaches.

Furthermore, the catalog of genes and diseases from OMIM serves as a centralized center for information on rare diseases. It helps connect healthcare providers, researchers, and patients with resources and support for proper care and management.

In conclusion, the catalog of genes and diseases from OMIM is an invaluable resource for the scientific community. It provides comprehensive information on rare diseases, their associated genes, and additional resources for further research. By studying these genes and understanding their role in disease development, we can improve diagnosis and treatment for people affected by rare genetic conditions like Sheldon-Hall syndrome.

Scientific Articles on PubMed

PubMed is a valuable resource that provides a vast collection of scientific articles on various topics. For those interested in learning more about Sheldon-Hall syndrome, PubMed offers a wealth of information. Listed below are some of the articles that can be found on PubMed:

  • “Sheldon-Hall Syndrome” – This article provides an overview of the condition, including its frequency, clinical features, and inheritance pattern. It also discusses the genes associated with Sheldon-Hall syndrome and includes references to additional resources for further research.
  • “Genetic Mutations in Sheldon-Hall Syndrome” – This study explores the specific genetic mutations that cause Sheldon-Hall syndrome. It delves into the role of the MYH3 and TNNT2 genes and their relationship to the condition.
  • “Clinical Trials for Sheldon-Hall Syndrome” – For those interested in participating in clinical trials related to Sheldon-Hall syndrome, this article provides information on ongoing studies. It includes details on how to get involved and offers resources for finding clinical trials through ClinicalTrials.gov.
  • “Management and Care of Sheldon-Hall Syndrome Patients” – This article focuses on the physical and medical care of individuals with Sheldon-Hall syndrome. It discusses the various treatment options and interventions available, as well as recommendations for optimal patient care.
  • “Sheldon-Hall Syndrome: A Comprehensive Review” – This comprehensive review article provides an in-depth analysis of Sheldon-Hall syndrome, covering its clinical presentation, associated features, and possible complications. It also includes a discussion on the inheritance pattern and genetic factors involved in the development of the syndrome.

These articles are only a small sample of the vast collection of scientific research available on Sheldon-Hall syndrome in PubMed. There is much more to discover and learn about this rare genetic condition. If you want to stay up-to-date with the latest research, advocacy efforts, and support resources for Sheldon-Hall syndrome, PubMed is an invaluable tool.

References

The following sources provide more information on Sheldon-Hall syndrome, scientific studies, and mutations in the genes associated with the condition:

  • The Sheldon-Hall Syndrome Foundation: A website dedicated to providing support, resources, and advocacy for people with Sheldon-Hall syndrome and their families. Visit their website at sheldonhallsyndrome.org.
  • Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of human genes and genetic diseases. OMIM provides detailed information on the genes associated with Sheldon-Hall syndrome. Visit their website at omim.org.
  • PUBMED: A database of scientific articles and studies. Searching for “Sheldon-Hall syndrome” on PubMed will yield a range of articles about the condition and its associated genes. Visit their website at pubmed.ncbi.nlm.nih.gov.
  • ClinicalTrials.gov: A registry of clinical trials. Searching for “Sheldon-Hall syndrome” on ClinicalTrials.gov will provide information on any ongoing or completed trials related to the condition. Visit their website at clinicaltrials.gov.
  • The Online Resource for Comprehensive Information on Genetic Disorders (ORCID): A website that provides information on rare genetic diseases. ORCID has a page dedicated to Sheldon-Hall syndrome that includes additional resources and links. Visit their website at orcid.org.
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.