Freeman-Sheldon syndrome

Freeman-Sheldon syndrome, also known as Whistling face syndrome, is a rare genetic disorder that affects various parts of the body. It is caused by mutations in the MYH3 gene, which encodes the myosin-3 protein. The syndrome is inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition.

Individuals with Freeman-Sheldon syndrome often have distinctive facial features, such as a small mouth with a puckered appearance, a pointed chin, and deep-set eyes. They may also have difficulty opening their eyes fully. In addition, a characteristic feature of the syndrome is contracted muscles in the hands and feet, causing a “whistling” appearance of the hands and clubfoot deformity.

The condition affects the function of several tissues and organs in the body, including the muscles, bones, and connective tissues. It can lead to various health problems, such as difficulties with movement, breathing, and swallowing. In severe cases, individuals with Freeman-Sheldon syndrome may require multiple surgeries and extensive medical support.

While there is currently no cure for Freeman-Sheldon syndrome, various treatments and interventions can help manage the symptoms and improve quality of life. These may include physical therapy, occupational therapy, speech therapy, orthopedic interventions, and surgical procedures. Regular monitoring and support from healthcare professionals are essential for individuals with the condition.

More information about Freeman-Sheldon syndrome can be found on various resources, including genetic research centers, patient advocacy organizations, and medical literature. Some useful references include the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed articles, and the ClinicalTrials.gov database, which provides information about ongoing clinical trials and research studies related to the syndrome.

Frequency

Freeman-Sheldon syndrome is a rare genetic condition with a frequency of approximately 1 in 100,000 births worldwide. It is also known as distal arthrogryposis type 2A and whistling face syndrome.

The syndrome is associated with mutations in the MYH3 gene, which codes for the myosin-3 protein. Myosin proteins are involved in the contraction and function of muscles. These mutations disrupt the normal function of the myosin-3 protein, leading to the characteristic features of Freeman-Sheldon syndrome.

Freeman-Sheldon syndrome has an autosomal dominant inheritance pattern, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

Freeman-Sheldon syndrome is characterized by a distinctive facial appearance, with “whistling” or “pursed” lips, a small mouth, and a prominent nasal bridge. Other features of the condition include deep-set eyes, a narrow palpebral fissure, and micrognathia (a small lower jaw). The hands and feet may also be affected, with contractures and deformities present.

ClinicalTrials.gov provides additional information on current research studies and clinical trials related to Freeman-Sheldon syndrome. OMIM is a catalog of human genes and genetic disorders that provides more detailed information on the syndrome. PubMed is a database of scientific articles that can be searched for more information on Freeman-Sheldon syndrome and related topics.

Testing for mutations in the MYH3 gene can confirm a diagnosis of Freeman-Sheldon syndrome. Genetic testing may also be used to identify other genes that are associated with similar conditions, as there is significant overlap in the clinical presentation of these disorders.

Support and advocacy organizations, such as the Freeman-Sheldon Syndrome Research Center, provide resources and information for patients and their families. These organizations can offer support, education, and assistance in navigating the complexities of living with Freeman-Sheldon syndrome.

Causes

The Freeman-Sheldon syndrome is a genetic disorder. It is caused by mutations in the MYH3 gene, which provides instructions for making a protein called myosin-3 heavy chain. This protein is involved in muscle contraction and plays a role in the development and maintenance of skeletal muscles.

Most cases of Freeman-Sheldon syndrome are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the condition. In some cases, the syndrome may occur sporadically without any family history of the condition.

There are currently over 90 known mutations in the MYH3 gene associated with Freeman-Sheldon syndrome, and new mutations are still being discovered. These mutations disrupt the function of the myosin-3 heavy chain protein, leading to the characteristic facial and musculoskeletal features of the syndrome.

While the exact frequency of Freeman-Sheldon syndrome is unknown, it is considered to be a rare disorder. It is estimated to affect approximately 1 in 100,000 to 1 in 250,000 individuals worldwide.

If a person is suspected to have Freeman-Sheldon syndrome, genetic testing can be done to confirm the diagnosis. This testing can detect mutations in the MYH3 gene and help determine whether a person has inherited the condition.

For more information about the genetic causes of Freeman-Sheldon syndrome, the OMIM (Online Mendelian Inheritance in Man) database provides detailed information on the MYH3 gene and associated mutations. The Genetic and Rare Diseases Information Center also offers resources for patients, including articles and information on clinical trials related to Freeman-Sheldon syndrome.

References:

Learn more about the gene associated with Freeman-Sheldon syndrome

Freeman-Sheldon syndrome, also known as distal arthrogryposis type 2A, is a rare genetic condition that affects the muscles and tissues in the face, hands, and feet. It is characterized by facial contractures, clenched fists, and deformed feet.

Research studies have shown that Freeman-Sheldon syndrome is often associated with mutations in the MYH3 gene. This gene provides instructions for making a protein called myosin-3, which is involved in muscle contraction and function.

Studies have shown that mutations in the MYH3 gene can disrupt the normal function of myosin-3, leading to the characteristic symptoms seen in Freeman-Sheldon syndrome. These mutations may occur spontaneously or be inherited from a parent who also carries the gene mutation.

Genetic testing can be used to identify mutations in the MYH3 gene and confirm a diagnosis of Freeman-Sheldon syndrome. This testing can also be used to determine the inheritance pattern of the condition and provide information for genetic counseling.

Freeman-Sheldon syndrome is a rare condition, with an estimated frequency of 1 in 193,000 births. Additional research and studies are ongoing to learn more about the genetic causes and underlying mechanisms of this condition.

For more information and resources on Freeman-Sheldon syndrome and the associated MYH3 gene, you can refer to the following references:

  • OMIM – Online Mendelian Inheritance in Man: Freeman-Sheldon syndrome (OMIM ID: 193700)
  • PubMed – Search for scientific articles on Freeman-Sheldon syndrome and MYH3 gene
  • Genetics Home Reference – Freeman-Sheldon syndrome
  • ClinicalTrials.gov – Search for clinical trials and studies on Freeman-Sheldon syndrome

These resources can provide valuable information and support for patients and their families, as well as researchers and advocates for Freeman-Sheldon syndrome.

Inheritance

The Freeman-Sheldon syndrome is a rare genetic condition that is inherited in an autosomal dominant manner.

Autosomal dominant inheritance means that an affected individual has a 50% chance of passing the condition on to each of their children.

The syndrome is caused by mutations in the MYH3 gene, which provides instructions for making a protein called myosin-3. Myosin-3 is involved in muscle contraction and is particularly important for the development and function of facial muscles.

These mutations lead to the production of a heavy and overly active myosin-3 protein. This abnormal protein affects the development of muscles and connective tissues in various parts of the body.

Research on the genetic basis of Freeman-Sheldon syndrome is ongoing, and more information can be found in scientific articles and genetic databases such as OMIM (Online Mendelian Inheritance in Man) and the Gene Tests catalog.

In addition to genetic testing, clinical features and appearance can help in diagnosing the condition. The characteristic facial appearance, contracted muscles, and hand and feet abnormalities are key clinical features associated with Freeman-Sheldon syndrome.

It is important for patients and their families to seek support from advocacy groups and centers specializing in rare diseases. These resources can provide more information about Freeman-Sheldon syndrome, clinical trials, and available treatments.

References and additional information about Freeman-Sheldon syndrome can be found on websites such as PubMed, clinicaltrials.gov, and the Freeman-Sheldon Syndrome Research and Support Center.

See Also:  SPG11 gene

Other Names for This Condition

Freeman-Sheldon syndrome is also known by several other names, including:

  • Whistling Face Syndrome
  • Windmill Vane Hand Syndrome
  • Craniocarpotarsal Dysplasia
  • CDA I Syndrome (Contractures, Distal, with Congenital Joint Dystrophy, One Variants)
  • Distal Arthrogryposis Type 2A (DA2A)

These alternative names reflect the various clinical features and characteristics of the syndrome.

The term “Freeman-Sheldon syndrome” is the most commonly used name for this condition. It was named after the doctors who first described it in medical literature: Dr. Michael J. Freeman and Dr. Sheldon L. Gerber.

The syndrome is a rare genetic disorder characterized by multiple physical abnormalities affecting the face, hands, and feet. Some of the prominent features include a whistling appearance of the face with a small mouth and puckered lips, narrow eye openings, and a distinctive flatness of the middle part of the face.

The hand and feet deformities are among the most significant symptoms of Freeman-Sheldon syndrome. The fingers are rigid and curled, resembling a windmill vane, hence the term “Windmill Vane Hand Syndrome.” The toes also show similar contractures, and the feet may be twisted and abnormal in shape.

The inheritance of Freeman-Sheldon syndrome follows an autosomal dominant pattern, which means that an affected parent has a 50% chance of passing on the condition to their child. The condition is associated with mutations in the MYH3 gene, which provides instructions for making a protein called myosin heavy chain 3. These mutations disrupt the normal development and function of muscle tissues.

Additional information about Freeman-Sheldon syndrome can be found in scientific articles, research studies, and patient resources. Some useful resources include:

  • PubMed: A database of scientific articles and research studies on various genetic diseases, including Freeman-Sheldon syndrome.
  • OMIM: Online Mendelian Inheritance in Man, a comprehensive database of genetic disorders with detailed information on genes, their functions, and associated diseases.
  • ClinicalTrials.gov: An online registry of clinical studies and trials related to Freeman-Sheldon syndrome that are currently underway or planned for the future.
  • Freeman-Sheldon Syndrome Research and Advocacy Center: A center dedicated to supporting research, advocacy, and patient support for individuals and families affected by Freeman-Sheldon syndrome.

Genetic testing can be done to confirm a diagnosis of Freeman-Sheldon syndrome and to identify specific mutations in the MYH3 gene. This information can be crucial for accurate diagnosis, genetic counseling, and management of the condition.

It is important for individuals and families affected by Freeman-Sheldon syndrome to seek information from reliable sources, consult with medical professionals, and connect with support groups and advocacy organizations to access the latest developments in research, treatment options, and support services.

Additional Information Resources

Here is a list of additional resources for more information about Freeman-Sheldon syndrome:

  • Websites:
    • Rare Diseases – Provides general information about Freeman-Sheldon syndrome, including its causes, symptoms, and treatment options.
    • Genetics Home Reference – Offers detailed information about the genetic inheritance, symptoms, and diagnosis of Freeman-Sheldon syndrome.
    • OMIM (Online Mendelian Inheritance in Man) – Provides scientific articles and clinical studies related to the syndrome.
  • Support and Advocacy:
    • Freeman-Sheldon Syndrome Foundation – Offers support and resources for individuals and families affected by the syndrome.
    • National Institute of Neurological Disorders and Stroke (NINDS) – Provides information and resources about Freeman-Sheldon syndrome and other rare neurological disorders.
  • Research and Clinical Trials:
    • ClinicalTrials.gov – Offers information about ongoing research studies and clinical trials related to Freeman-Sheldon syndrome.
    • PubMed – Provides access to scientific articles and studies on Freeman-Sheldon syndrome.
    • NCBI Gene Database – Contains information about the MYH3 gene associated with Freeman-Sheldon syndrome.

These resources can provide more information about the condition, its causes, symptoms, and potential treatment options. They also offer support and advocacy for individuals and families affected by Freeman-Sheldon syndrome.

Genetic Testing Information

Condition: Freeman-Sheldon syndrome is a rare genetic disorder characterized by multiple congenital abnormalities affecting various tissues and organs in the body.

Testing: Genetic testing for Freeman-Sheldon syndrome can be performed to identify mutations in the MYH3 gene. This gene provides instructions for making a protein called myosin-3, which is involved in muscle function. Mutations in the MYH3 gene are associated with the development of this condition.

Frequency: Freeman-Sheldon syndrome is a rare disorder with a limited number of reported cases.

Clinical Trials: ClinicalTrials.gov provides information about ongoing clinical trials and research studies related to Freeman-Sheldon syndrome.

Inheritance: Freeman-Sheldon syndrome is inherited in an autosomal dominant manner, which means that a person only needs to inherit one altered copy of the MYH3 gene from either parent to develop the condition.

Symptoms: The characteristic features of Freeman-Sheldon syndrome include a distinctive facial appearance with a small mouth, a whistling-like appearance when speaking or whistling, tight muscles, and joint contractures. Other symptoms may include unusual eye movements, hand and foot deformities, and breathing difficulties.

Support and Advocacy: Resources and support for individuals with Freeman-Sheldon syndrome and their families can be found through organizations like the Freeman-Sheldon Research Group and the Genetic and Rare Diseases Information Center.

Learn More: Additional information about Freeman-Sheldon syndrome can be found in scientific articles, gene catalogs, and references such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other genetic resources.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable information on rare genetic diseases, including Freeman-Sheldon syndrome. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

About Freeman-Sheldon Syndrome

  • Freeman-Sheldon syndrome, also known as whistling face syndrome, is a rare genetic condition that affects the muscles and facial tissues.
  • This condition is caused by mutations in the MYH3 gene, which is responsible for the production of myosin-3 protein.
  • Myosin-3 is involved in muscle contraction and has an important function in the development and function of facial muscles.

Symptoms of Freeman-Sheldon Syndrome

  • People with Freeman-Sheldon syndrome may have a distinct facial appearance, with a “whistling” or “pursed” appearance of the mouth.
  • Other common features include a small, puckered mouth, a narrow nose, and prominent eyes.
  • The syndrome also affects the hands and feet, with joint deformities, such as clenched fists and contractures of the fingers and toes.

Frequency and Inheritance

  • Freeman-Sheldon syndrome is a rare condition, with the exact frequency being unknown.
  • It is inherited in an autosomal dominant manner, which means that an affected person has a 50% chance of passing the condition on to each of their children.
  • Many cases of Freeman-Sheldon syndrome occur sporadically, meaning they are not inherited from a parent with the condition.

Research and Resources

  • Scientific studies and research are ongoing to better understand the causes and mechanisms of Freeman-Sheldon syndrome.
  • Additional information on this condition can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed articles.
  • Patient support and advocacy groups are available to provide more information and support for individuals and families affected by Freeman-Sheldon syndrome.
  • Genetic testing and clinical trials may be available for individuals with Freeman-Sheldon syndrome to learn more about the condition and potential treatment options.

GARD provides free and reliable information on rare genetic diseases and is dedicated to helping individuals and families affected by these conditions. For more information, visit the GARD website or contact the GARD Information Center.

Patient Support and Advocacy Resources

Patients and their families who are affected by Freeman-Sheldon syndrome can find valuable support and advocacy resources. These resources provide information, guidance, and assistance in dealing with the challenges of the condition.

Below is a catalog of patient support and advocacy resources that offer information and support:

  • Freeman-Sheldon Research Group: This organization is dedicated to advancing scientific research on Freeman-Sheldon syndrome. They provide information about the syndrome, current research studies, and resources for patients and families.
  • Facial Pain Association: This organization provides information and support for individuals with facial pain conditions. They offer resources for managing symptoms and finding appropriate medical care.
  • Rare Diseases Clinical Research Network: This network conducts clinical trials and research studies on rare diseases, including Freeman-Sheldon syndrome. Their website provides information on ongoing studies and opportunities for patient participation.
  • Genetic and Rare Diseases Information Center: This center provides reliable information on rare genetic diseases, including Freeman-Sheldon syndrome. They offer information for patients, families, and healthcare professionals.
  • Genetic Testing Registry: This registry provides information on genetic tests for various conditions, including Freeman-Sheldon syndrome. Patients and their families can learn about the availability, frequency, and clinical utility of genetic testing for this condition.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database of genetic disorders. It provides detailed information on the symptoms, inheritance patterns, and genetic mutations associated with Freeman-Sheldon syndrome.
  • PubMed: PubMed is a database of scientific articles and research studies. It contains a wealth of information on various aspects of Freeman-Sheldon syndrome, including its genetic causes, clinical features, and treatment options.
See Also:  SPTLC1 gene

By accessing these resources, patients and their families can learn more about Freeman-Sheldon syndrome, find support from others facing similar challenges, and stay informed about the latest research and treatment advancements.

Research Studies from ClinicalTrials.gov

Research studies and clinical trials play a crucial role in understanding and finding treatments for various diseases and genetic conditions. When it comes to Freeman-Sheldon syndrome, ongoing studies provide valuable information to learn more about the causes, inheritance patterns, and potential treatments.

The gene MYH3 has been identified as one of the associated causes of Freeman-Sheldon syndrome. Mutations in this gene can lead to the contraction of facial muscles and other tissues, resulting in the characteristic appearance of the syndrome. Research studies focus on understanding the function and frequency of MYH3 mutations in patients with Freeman-Sheldon syndrome.

ClinicalTrials.gov is an invaluable resource that provides information on ongoing studies related to Freeman-Sheldon syndrome and other rare diseases. These studies aim to investigate the genetic basis and underlying mechanisms of the condition, as well as explore potential treatment options.

Studies conducted on Freeman-Sheldon syndrome have documented various aspects of the condition, ranging from the appearance of the face, hands, and feet to the involvement of specific genes and their mutations. By analyzing genetic information from patients, researchers aim to uncover additional genes that may contribute to the syndrome’s development.

Support from advocacy groups and rare disease organizations has been instrumental in pushing for more research studies on Freeman-Sheldon syndrome. By raising awareness and providing resources and information to scientists and clinicians, these organizations contribute to expanding our knowledge of the condition.

References to studies and articles related to Freeman-Sheldon syndrome can also be found on online databases like PubMed and OMIM. These resources offer scientific information on the genetics, clinical presentation, and management of the syndrome, supporting both medical professionals and families affected by the condition.

Genetic testing plays a key role in diagnosing Freeman-Sheldon syndrome and identifying specific mutations in affected individuals. Parent testing and testing of other family members can provide essential information about the inheritance pattern and help tailor management strategies for patients.

Studies on MYH3, the gene associated with Freeman-Sheldon syndrome, have shed light on its role in the contraction of facial muscles and other tissues. Further investigations are needed to understand the precise mechanisms underlying these tissue contractions and their impact on the appearance and function of affected individuals.

Frequent terms used in research studies:
Facial appearance Genetic mutations MYH3 gene Inheritance patterns
Research studies Rare diseases Genetic testing Advocacy groups
ClinicalTrials.gov Cell function OMIM Scientific resources
Facial corners Hand and feet Patient support PubMed

Overall, research studies and clinical trials on Freeman-Sheldon syndrome are essential for understanding the underlying genetic causes, improving diagnosis and management, and developing new treatment options. By exploring the genetic and cellular mechanisms of the syndrome, scientists can ultimately contribute to improving the quality of life for affected individuals.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database providing information about genes and genetic disorders. It serves as a valuable resource for both scientific research and patient advocacy.

OMIM contains a vast collection of scientific articles, clinical trials, and other references that relate to various genetic diseases. One of the rare genetic conditions documented on OMIM is Freeman-Sheldon syndrome.

Freeman-Sheldon syndrome, also known as distal arthrogryposis type 2A, is characterized by a distinct facial appearance and contractures of the hands and feet. The syndrome is associated with mutations in the MYH3 gene, which codes for the myosin-3 protein involved in muscle contraction.

Individuals with Freeman-Sheldon syndrome often have a “whistling face” appearance due to the tightness of the facial muscles. The condition can also affect other tissues and result in additional symptoms and complications.

OMIM provides information on the frequency, inheritance patterns, clinical features, and genetic testing options for Freeman-Sheldon syndrome. It also offers names and contact information for advocacy organizations, such as the Freeman-Sheldon Research Group and the Freeman-Sheldon Syndrome Support Group, that provide resources and support for individuals and families affected by the condition.

For more information on Freeman-Sheldon syndrome, refer to the OMIM entry titled “Freeman-Sheldon Syndrome” (OMIM #193700). It contains detailed information about the syndrome, its genetic causes, associated clinical features, and available testing options.

References:

  • Freeman-Sheldon Syndrome – OMIM #193700
  • Leinwand, M. et al. (2016). Freeman-Sheldon Syndrome. GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK379103/
  • Poling, M. et al. (2020). Freeman-Sheldon Syndrome. StatPearls. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK551556/

Scientific Articles on PubMed

Rare genetic diseases like Freeman-Sheldon syndrome, also known as distal arthrogryposis type 2A, have been the subject of scientific studies and research. PubMed is a valuable resource for finding information about this condition and its causes.

In a study published in the American Journal of Medical Genetics: Part A, researchers examined the genetic mutations associated with Freeman-Sheldon syndrome. They found that mutations in the MYH3 gene, which encodes the heavy chain of myosin-3, can cause this condition. The study also provided clinical descriptions and photographs of affected patients.

Additional studies have focused on the clinical and genetic characteristics of Freeman-Sheldon syndrome. One study published in the journal Genet Med evaluated the frequency and inheritance patterns of the syndrome. The researchers found that Freeman-Sheldon syndrome is inherited in an autosomal dominant pattern, meaning that a mutation in only one copy of the gene is sufficient to cause the condition.

Functional testing and muscle biopsy have been used to further understand the underlying causes of Freeman-Sheldon syndrome. A study published in the Journal of Medical Genetics examined muscle biopsy specimens from patients with the syndrome and found abnormal muscle fiber contraction. This suggests that dysfunction in muscle contraction may contribute to the characteristic appearance and movement abnormalities seen in Freeman-Sheldon syndrome.

In addition to scientific articles, there are other resources available for learning about Freeman-Sheldon syndrome. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the genetic and clinical aspects of the syndrome. Patient advocacy organizations like the Freeman-Sheldon Research Group also offer support and information for individuals and families affected by the condition.

Furthermore, clinicaltrials.gov is a useful platform for finding ongoing and completed research studies related to Freeman-Sheldon syndrome. These studies may provide additional information about the condition, its associated symptoms, and potential treatment options.

It is important for healthcare professionals and researchers to continue studying Freeman-Sheldon syndrome in order to improve understanding of the condition, develop more effective treatments, and provide support for affected individuals and their families.

References

  • Freeman-Sheldon Syndrome Research and Support: An advocacy group providing resources and support for patients and families affected by Freeman-Sheldon syndrome. Learn more about the rare condition and find additional information on medical testing and treatment options.
    https://freemansheldon.org/
  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic diseases. Find information on the genetic inheritance and causes of Freeman-Sheldon syndrome, as well as associated genes.
    https://omim.org/
  • ClinicalTrials.gov: A database of clinical trials overseen by the U.S. National Library of Medicine. Search for ongoing or completed clinical trials related to Freeman-Sheldon syndrome and find information on testing and research studies.
    https://clinicaltrials.gov/
  • PubMed: A database of scientific articles and research studies in the field of medicine. Find published articles and research papers on Freeman-Sheldon syndrome, including studies on the genetics, clinical features, and treatment options.
    https://pubmed.ncbi.nlm.nih.gov/
  • Myosin Heavy Chain 3 (MYH3) Gene: Information on the MYH3 gene, which is associated with Freeman-Sheldon syndrome. Learn about the gene’s function and the role it plays in muscle contraction.
    https://ghr.nlm.nih.gov/gene/MYH3

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