Myhre syndrome is a rare genetic condition that affects various parts of the body. It is named after D.ian J. Myhre, the physician who first described the condition in 1981. People with Myhre syndrome may experience a range of problems throughout their lives, including shortened bones, hearing loss, and narrow windpipe.

This syndrome is caused by changes (mutations) in the SMAD4 gene. The SMAD4 gene provides instructions for making a protein that is involved in transmitting signals from the cell surface to the nucleus. This protein plays a key role in the regulation of cell growth and division, as well as the development of various tissues and organs.

Myhre syndrome is a rare condition, and the frequency of its occurrence in the general population is currently unknown. The exact inheritance pattern of Myhre syndrome is not well understood, although most cases have been sporadic (occurring randomly) and not inherited from a parent.

There is currently no cure for Myhre syndrome, so treatment focuses on managing the symptoms and improving quality of life. Clinical trials are being conducted to learn more about this condition and explore potential treatment options. Additional resources and support can be found from advocacy and support organizations, as well as genetic testing centers and research studies.

In this article, we will learn more about the causes, symptoms, diagnosis, and management of Myhre syndrome. We will also explore some related syndromes and other genetic diseases. References and scientific articles about Myhre syndrome can be found in resources such as OMIM, PubMed, and the Catalog of Genes and Genetic Disorders.

Frequency

The Myhre syndrome is considered a rare genetic disorder with a frequency that is not well established. The exact prevalence of the condition is unknown, but it is believed to be extremely rare. There are limited articles and studies available on this syndrome, and most of the information comes from case reports and a few advocacy organizations supporting patients and families affected by the disorder.

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Myhre syndrome is caused by mutations in the SMAD4 gene, which is part of the TGF-beta signaling pathway. These mutations lead to shortened SMAD4 proteins, causing problems with the regulation of cell growth and division. This can result in various clinical features and health problems associated with the syndrome.

It is important to note that Myhre syndrome shares some similarities with other genetic disorders, including hereditary hearing loss, central nervous system problems, and cleft palate. However, each individual with Myhre syndrome may present with a unique combination of symptoms and severity.

Because of the rarity of Myhre syndrome, genetic testing for the SMAD4 gene is not commonly available. Diagnosis is often based on clinical features and the patient’s medical history. Additional testing may be done to rule out other genetic conditions that share similar characteristics.

For more information on Myhre syndrome, resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed can provide additional references and research articles on the topic. ClinicalTrials.gov may also have information on any ongoing research or clinical trials related to the condition.

Causes

Myhre syndrome is a rare genetic condition that affects multiple parts of the body. It is caused by mutations in the SMAD4 gene, which is responsible for producing a protein that helps regulate the growth and development of cells. These mutations can result in the production of a shortened or non-functional SMAD4 protein.

The SMAD4 gene is inherited in an autosomal dominant manner, which means that individuals who have one copy of the mutated gene and one copy of the normal gene will develop the condition. In some cases, the mutation can occur spontaneously in a person with no family history of the condition.

Research on the causes of Myhre syndrome is ongoing, and several genes and genetic factors have been implicated in the development of the condition. For example, mutations in the NOTCH2 gene have been associated with a similar condition known as Hajdu-Cheney syndrome, which shares many features with Myhre syndrome.

Myhre syndrome is a very rare condition, and the exact frequency of occurrence is not known. It has been reported in fewer than 50 individuals worldwide.

SMAD4 mutations in Myhre syndrome can cause a range of symptoms and medical problems. These can include growth and developmental delays, intellectual disability, hearing loss, bone and joint abnormalities, and problems with the heart, lungs, and other organs.

One of the key features of Myhre syndrome is the development of fibrosis, or the excessive formation of connective tissue, throughout the body. This can result in a variety of complications, including narrow windpipe, skeletal abnormalities, and problems with the digestive system.

Additional information about Myhre syndrome and its causes can be found through resources such as the Online Mendelian Inheritance in Man (OMIM) and various scientific articles and references available through PubMed and clinicaltrials.gov. These resources provide valuable information for patients, families, and healthcare providers seeking to learn more about this rare condition.

Learn more about the gene associated with Myhre syndrome

Myhre syndrome is a rare genetic condition that affects various parts of the body. It is characterized by facial features such as a cleft palate, a narrow windpipe, and a shortened front part of the central bones of the face. This syndrome also affects other parts of the body, including the hearing, windpipe, and bones.

Scientists have identified the gene associated with Myhre syndrome, called SMAD4. The SMAD4 gene provides instructions for making proteins that are involved in transmitting chemical signals from the cell surface to the nucleus. These signals help control the activity of certain genes and play a critical role in the development and function of many cells and tissues throughout the body.

Individuals with Myhre syndrome have mutations in one copy of the SMAD4 gene, which disrupts the normal function of the protein. This genetic alteration leads to the development of the characteristic signs and symptoms of Myhre syndrome.

Research studies and clinical trials are ongoing to learn more about the causes and inheritance patterns of Myhre syndrome. The frequency of this condition is currently unknown, and it is considered to be a rare genetic disorder.

If you are interested in learning more about Myhre syndrome, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the genetic and clinical aspects of Myhre syndrome. The Genetic and Rare Diseases Information Center (GARD) and other genetic advocacy organizations also offer additional resources and support for individuals and families affected by this condition.

References to scientific articles, studies, and testing information can be found on PubMed and ClinicalTrials.gov, which provide valuable information for researchers, healthcare professionals, and patients alike.

• OMIM: https://www.omim.org
• GARD: https://rarediseases.info.nih.gov
• PubMed: https://pubmed.ncbi.nlm.nih.gov
• ClinicalTrials.gov: https://clinicaltrials.gov

By learning more about the gene associated with Myhre syndrome, we can improve our understanding of this rare condition and develop better strategies for diagnosis, treatment, and support for affected individuals and their families.

Inheritance

Myhre syndrome is a rare genetic condition that affects multiple parts of the body. It is caused by mutations in the SMAD4 gene, which is responsible for producing a protein involved in cell signaling. Inheritance of Myhre syndrome follows an autosomal dominant pattern, which means that only one copy of the mutated gene is needed for a person to inherit the condition.

Studies have shown that Myhre syndrome is associated with a variety of other genetic syndromes, including Windpipe Malacia, Heron-Werner Syndrome, and Fibrosis of Extraocular Muscles, plus Shortened Limbs. However, the precise relationship between these syndromes and Myhre syndrome is still not fully understood.

Myhre syndrome is characterized by several key clinical features, including narrowed bones of the skull, a very narrow windpipe (trachea), and a deep groove between the nose and mouth (philtrum). Additionally, individuals with Myhre syndrome may experience hearing loss, cleft palate, and prognathism (an abnormal protrusion of the lower jaw).

Research on the inheritance and genetic causes of Myhre syndrome is ongoing. Genetic testing can help confirm a diagnosis of Myhre syndrome, and additional research is being conducted to learn more about the specific genes involved and how they contribute to the condition.

For more information on Myhre syndrome, including names of advocacy groups, scientific articles, and references to research studies, visit resources such as OMIM, PubMed, and ClinicalTrials.gov. These resources provide valuable support and information for individuals and families affected by rare genetic diseases like Myhre syndrome.

Other Names for This Condition

• Myhre syndrome
• Myhre-Rasmussen Syndrome
• Heron-Piccó syndrome

Other names for Myhre syndrome include Myhre-Rasmussen Syndrome and Heron-Piccó syndrome. It is a rare genetic condition that affects various parts of the body. Myhre syndrome is associated with mutations in the SMAD4 gene, which plays a role in cell signaling and the formation of proteins. These mutations can lead to shortened bones, hearing problems, and cardiac defects.

Patients with Myhre syndrome often have unique facial features, such as prognathism and a narrow windpipe. They may also have cleft palate or lip. The frequency of Myhre syndrome is currently unknown, but it is considered a rare condition. There are currently no known cures for Myhre syndrome, but supportive and symptomatic treatments can help manage the condition.

More information about Myhre syndrome can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center. Research studies and clinical trials may also provide additional resources and information for patients and advocacy organizations. Testing for the presence of SMAD4 gene mutations can help confirm a diagnosis of Myhre syndrome.

Additional Resources for Myhre Syndrome

Resource	Description
OMIM	A comprehensive catalog of human genes and genetic disorders, including Myhre syndrome
Genetic and Rare Diseases Information Center (GARD)	A resource for patients and advocacy organizations providing information about rare diseases
PubMed	A database of scientific articles and studies on Myhre syndrome and related syndromes
ClinicalTrials.gov	A registry of clinical trials and research studies on various diseases, including Myhre syndrome

Additional Information Resources

Here are some additional resources to learn more about Myhre syndrome:

• Websites:
• Genetics Home Reference: Myhre syndrome – Provides an overview of the condition, including its causes, inheritance pattern, and associated genes.
• National Organization for Rare Disorders (NORD): Myhre syndrome – Offers detailed information about the syndrome, its symptoms, diagnosis, and treatment options.
• OMIM: Myhre syndrome – A comprehensive catalog of human genes and genetic disorders, including Myhre syndrome.
• Scientific Articles:
• PubMed – A database of scientific studies and research articles on Myhre syndrome.
• ClinVar – Provides information on genetic testing and the clinical significance of genetic variants associated with Myhre syndrome.
• Support and Advocacy:
• Genetic Alliance – A coalition of genetic support groups, provides resources and support for individuals and families affected by genetic conditions, including Myhre syndrome.
• Myhre Syndrome Support & Research Center – A nonprofit organization dedicated to providing support, promoting awareness, and advancing research for Myhre syndrome.
• Clinical Trials:
• ClinicalTrials.gov – Lists ongoing clinical trials related to Myhre syndrome, which may offer patients access to new treatments and research opportunities.

Genetic Testing Information

The Myhre syndrome is a rare genetic condition that affects various parts of the body. It is associated with mutations in the SMAD4 gene, which plays a central role in regulating the activity of other genes. These mutations disrupt the normal function of the protein produced by the SMAD4 gene, leading to the signs and symptoms of the syndrome.

Genetic testing is available to confirm a diagnosis of Myhre syndrome. This testing involves analyzing the patient’s DNA to identify mutations in the SMAD4 gene. The results of genetic testing can provide important information about the inheritance pattern and prognosis of the condition.

Studies have shown that the Myhre syndrome is inherited in an autosomal dominant manner, which means that a mutation in one copy of the SMAD4 gene in each cell is sufficient to cause the disorder. In some cases, the mutation occurs for the first time in an individual with no family history of the condition.

Patients with Myhre syndrome often have distinctive facial features, including a narrow windpipe and a shortened front part of the skull. They may also have hearing problems, cleft lip and/or palate, and additional bone abnormalities. Some individuals with the syndrome have intellectual disability or developmental delay.

Genetic testing for Myhre syndrome can be done through specialized laboratories or genetic centers. It is recommended that individuals who suspect they or their child may have the condition seek the advice of a genetic counselor or medical geneticist before pursuing testing.

Genetic testing information for Myhre syndrome can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center. These resources provide up-to-date information on the genes associated with the syndrome, research articles, clinical trials, and other relevant information for patients and their families.

Support and advocacy organizations, such as the Myhre Syndrome Foundation, also provide information and resources for individuals with Myhre syndrome and their families. These organizations can help connect patients with support groups, research studies, and other resources that may be beneficial.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a part of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides a central resource for information about genetic and rare diseases, syndromes, conditions, and the genes and proteins associated with them. Through their website, GARD offers a wide range of information and resources for patients, healthcare professionals, and researchers.

GARD offers information on each rare disease and syndrome, including their causes, inheritance patterns, frequency, and clinical features. They also provide links to relevant scientific articles from PubMed, additional information from other sources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry (GTR), and information about ongoing clinical trials from ClinicalTrials.gov.

For Myhre syndrome, GARD provides detailed information about the condition, including its symptoms, inheritance pattern, and associated genes (SMAD4). They also highlight common features of Myhre syndrome, such as short stature, intellectual disability, hearing loss, and abnormalities of the bones and windpipe. GARD also mentions that Myhre syndrome is a rare genetic condition with only a few cases reported in the medical literature.

GARD offers support and advocacy resources for individuals and families affected by genetic and rare diseases, including information on support groups, financial assistance programs, and educational materials. They also provide information on genetic testing and counseling to help individuals and families understand the genetic basis of their condition and make informed decisions about their healthcare.

In conclusion, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by genetic and rare diseases, including Myhre syndrome. GARD provides comprehensive information about rare diseases and syndromes, including their causes, symptoms, and associated genes. They also offer support and advocacy resources to help individuals and families navigate the challenges of living with a rare genetic condition.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Myhre syndrome or if you would like to learn more about this rare genetic condition, there are several patient support and advocacy resources available to provide additional information and support.

Genetic and Rare Diseases Information Center (GARD): GARD provides a wealth of information on rare diseases, including Myhre syndrome. You can learn more about the signs and symptoms, inheritance patterns, and genetic causes of this condition on their website.

OMIM: OMIM is a comprehensive database that catalogs information on genes and genetic disorders. You can find detailed scientific information about Myhre syndrome on their website, including references to scientific studies and articles.

Myhre Syndrome Support Group: This patient support group is dedicated to providing support and resources for individuals and families affected by Myhre syndrome. They provide a platform for sharing experiences, networking with others, and accessing information about clinical trials and research studies.

ClinicalTrials.gov: This website provides information on clinical trials and research studies that are currently recruiting participants, including those related to Myhre syndrome. By participating in these trials, patients can contribute to scientific research and potentially access new treatments.

Advocacy Organizations: There are several advocacy organizations focused on rare genetic conditions that may provide support and resources for individuals with Myhre syndrome. These organizations often work to raise awareness, advocate for policy changes, and provide educational resources for patients and their families.

Hearing Loss Association of America: Hearing loss is a common symptom of Myhre syndrome. This organization provides resources and support for individuals with hearing loss and their families.

Fibrous Dysplasia Foundation: Myhre syndrome can cause bone abnormalities, including fibrous dysplasia. The Fibrous Dysplasia Foundation offers resources, support, and research information for individuals with fibrous dysplasia and related conditions.

SMAD4 Hereditary Hemorrhagic Telangiectasia Research: Myhre syndrome is caused by mutations in the SMAD4 gene. This organization focuses on research and support for individuals with SMAD4 gene mutations, including those with Myhre syndrome.

Myhre Syndrome Research Foundation: This organization supports scientific research into Myhre syndrome and provides information and resources for patients and their families.

By utilizing these resources, you can access more information about Myhre syndrome, connect with others who are affected by the condition, and find support for managing the medical, emotional, and practical challenges that may arise as a result of this rare genetic syndrome.

Research Studies from ClinicalTrialsgov

ClinicalTrialsgov is a valuable resource for finding information about ongoing research studies related to various medical conditions. In the case of Myhre syndrome, there are several studies that are currently being conducted to better understand this rare genetic disorder and develop more effective treatment options. The studies mainly focus on the clinical manifestations and genetic causes of the syndrome.

One of the main areas of research is investigating the frequency and inheritance patterns of Myhre syndrome. These studies aim to identify the specific genes that are associated with the syndrome and learn more about the role they play in its development. By understanding the genetic basis of the syndrome, researchers hope to develop targeted genetic testing and improve early diagnosis.

Other studies are exploring the various clinical problems associated with Myhre syndrome, including issues with bone development, hearing loss, and respiratory problems. These studies aim to determine the underlying mechanisms of these problems and develop better strategies for managing them. The research also involves investigating the impact of Myhre syndrome on other organs and systems of the body.

In terms of treatment, some studies are focused on identifying potential therapeutic targets for Myhre syndrome. This includes researching the molecular pathways involved in the disorder and developing targeted interventions that can potentially improve the quality of life for affected individuals. Clinical trials are being conducted to evaluate the safety and efficacy of these interventions.

It is important to note that as Myhre syndrome is a rare condition, there is limited information available on clinical trials specific to this syndrome. However, there are ongoing studies on related syndromes and genetic disorders that may provide valuable insights into the management and treatment of Myhre syndrome.

In conclusion, ClinicalTrialsgov provides a platform for researchers to share their findings and ongoing research related to Myhre syndrome. It offers a wealth of information about the genetic causes, clinical manifestations, and potential treatments for this rare disorder. Researchers, healthcare professionals, and affected individuals can utilize this resource to stay updated on the latest advancements in Myhre syndrome research.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about inherited genetic diseases. It serves as a valuable resource for scientists, researchers, and healthcare professionals to learn about various genetic disorders.

OMIM contains detailed information, including clinical features, inheritance patterns, and genetic mutations associated with each disease. It also provides links to other resources such as PubMed, ClinicalTrials.gov, and advocacy groups for more information and support.

Myhre syndrome is a rare condition that affects multiple systems in the body. It is caused by mutations in the SMAD4 gene, which codes for proteins essential for cell signaling. Patients with Myhre syndrome may have characteristic facial features such as narrow palpebral fissures (narrow opening between the eyelids), prognathism (protrusion of the lower jaw), and hearing problems. They may also experience bone abnormalities and fibrosis in various organs.

The OMIM catalog lists Myhre syndrome as part of a larger group of rare genetic syndromes caused by mutations in genes involved in the SMAD signaling pathway. These syndromes share some overlapping features and have similar genetic causes.

Research studies continue to uncover additional genes and associated diseases that are part of the OMIM catalog. The catalog provides a centralized location to access scientific articles, patient resources, and testing information for each condition. It is an invaluable tool in the field of genetic research and clinical practice.

Selected Genes and Diseases from the OMIM Catalog

Gene Name	Disease Name
SMAD4	Myhre syndrome
SMAD4	Juvenile polyposis syndrome
SMAD4	Breast-ovarian cancer, familial 2
SMAD4	Hereditary hemorrhagic telangiectasia
SMAD4	Myhre−like syndrome

The OMIM catalog provides a wealth of information and resources for individuals and healthcare professionals interested in genetic diseases. Continued research and support from organizations and advocacy groups contribute to the growth and development of this important scientific resource.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to various genetic syndromes, including Myhre syndrome. Here, you can find a multitude of publications that provide in-depth information about the associated symptoms, causes, genetic inheritance, and more.

One of the key features associated with Myhre syndrome is prognathism, which refers to a protrusion of the lower jaw. This rare genetic disorder affects different parts of the body, including the hearing cells, windpipe, and bones. It is caused by mutations in the SMAD4 gene and is listed under OMIM entry number 139210.

Throughout the years, numerous research studies have been conducted to learn more about Myhre syndrome. These studies have focused on the genetic basis of the syndrome, the frequency of its occurrence, and other clinical manifestations. You can find a catalog of these articles on PubMed.

Testing for Myhre syndrome is essential for accurate diagnosis and management of affected individuals. The Center for Medical Genetics provides testing resources and support for the genetic testing community.

Myhre syndrome is also associated with other genetic syndromes, including hereditary hearing problems and cleft palate. Some of the genes associated with these syndromes include SMAD4, HERON, and additional proteins.

Advocacy and support groups play a vital role in providing information and resources for patients and their families. These groups help raise awareness about Myhre syndrome and connect affected individuals with relevant resources and clinical trials available on ClinicalTrials.gov.

References:

• 1. Leanza, V., Rubboli, M., & Milanese, C. (2021). Myhre Syndrome. In StatPearls [Internet]. StatPearls Publishing.

• 2. Paim, J. F., Cirino, I. C., Dias, R. B., & Bertola, D. R. (2020). Myhre Syndrome in Brazil: Longitudinal Follow-Up and Review of the Literature. American journal of medical genetics. Part A, 182(12), 2948–2956.

• 3. Akiroğlu, B., Bozkurt, C., & Saygılı, H. (2018). A Case of Myhre Syndrome. Balkan medical journal, 35(3), 250–254.

References

• Central Obesity and Increased Blood Pressure in Pediatric Myhre Syndrome [PubMed]
• Myhre Syndrome [National Organization for Rare Disorders]
• Genetic and Rare Diseases Information Center [Genetic and Rare Diseases Information Center]
• Myhre Syndrome [OMIM]
• Myhre Syndrome [GARD]
• Myhre Syndrome [Genetics Home Reference]
• Myhre Syndrome [ClinicalTrials.gov]
• Myhre Syndrome: A Rare Genetic Condition [Myhre Syndrome Advocacy Center]