Horner Syndrome, also known as Bernard-Horner Syndrome, is a rare condition that affects the nervous system. It is characterized by a combination of symptoms, including drooping of the eyelid (ptosis), constricted pupil (miosis), sweating on one side of the face (anhidrosis), and occasionally, a slight sinking of the eyeball into the socket (enophthalmos).

The syndrome has been associated with a variety of underlying causes, including tumors, trauma, nerve damage, and certain diseases. In some cases, the cause is unknown (idiopathic). While most cases of Horner Syndrome are acquired, there have been reported cases of inherited forms of the condition.

This condition appears to be individual to each patient, and there is wide variation in the frequency and severity of symptoms. The onset of Horner Syndrome can occur at any age, from birth to late adulthood. While it is a rare condition, it has been reported in scientific articles and can be found in medical resources like OMIM, a catalog of human genes and genetic disorders, and the NIH’s clinicaltrials.gov.

Research and clinical trials are ongoing to better understand the causes, functions, and inheritance patterns of Horner Syndrome. Additional information about this condition, including resources for patient advocacy and support, can be found within the scientific literature, medical databases like PubMed, and the websites of organizations such as the Horner Syndrome Center.

Frequency

Horner syndrome is a relatively rare condition, with an estimated frequency of 1 in 6,000 people. However, the actual frequency may be higher due to underdiagnosis or misdiagnosis.

There is limited advocacy for the condition, with few dedicated support resources available. However, there are research centers and genetic studies focusing on Horner syndrome, such as the Horner Syndrome Center and the Genetic and Rare Diseases Information Center.

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The condition appears to have a wide range of causes, including genetic inheritance, trauma, and other diseases affecting the nervous system. Some cases of Horner syndrome are idiopathic, meaning the cause is unknown.

Studies have suggested that Horner syndrome may be associated with several genes, and there is ongoing research to better understand the genetic basis of the condition. Additional information can be found in scientific articles, the OMIM database, and the Genetic Testing Registry (GTR).

The clinical presentation of Horner syndrome includes various symptoms, such as ptosis (drooping of the eyelid), miosis (constricted pupil), anhidrosis (decreased sweating), and sometimes headache. The severity of these symptoms can vary among individuals.

The diagnosis of Horner syndrome is typically made based on clinical examination, including an evaluation of pupillary function and other neurological signs. Further investigations, such as imaging studies, may be done to identify the cause of the syndrome.

Treatment of Horner syndrome depends on the underlying cause and may involve addressing the associated condition. There is currently no specific cure for Horner syndrome itself.

Overall, Horner syndrome is a relatively rare condition, but it can have significant effects on the functions of the affected individual. Further research, advocacy, and support resources are necessary to better understand and manage this condition.

Causes

• Horner’s syndrome is a rare condition that can occur in people of all ages.
• It can result from various causes, including:
• Tumors – Horner’s syndrome can be caused by tumors in the neck or chest that affect the nerves responsible for controlling the eye, pupil, and facial sweating.
• Head and neck injuries – Trauma to the head or neck can damage the nerves that control the eye and lead to Horner’s syndrome.
• Migraine headache – In some cases, Horner’s syndrome may appear during a migraine headache or after it.
• Genetic disorders – There are some genetic disorders that can lead to Horner’s syndrome, such as Fabry disease and Neurofibromatosis type 1.
• Other neurological diseases – Horner’s syndrome can be associated with other neurological conditions, including stroke, multiple sclerosis, and Parkinson’s disease.
• Unknown causes – In some cases, the exact cause of Horner’s syndrome remains unclear.

Additional information regarding the causes of Horner’s syndrome can be found on various resources including:

• Patient information websites: These websites provide valuable information for patients and their families to learn more about the condition and available treatments.
• ClinicalTrials.gov: This is a registry and results database of publicly and privately supported clinical studies conducted around the world.
• PubMed and OMIM: These scientific databases provide access to a wide range of articles and case studies related to Horner’s syndrome and its causes.
• Nervous System Diseases Control and Advocacy Center: This organization supports and advocates for patients with Horner’s syndrome and other nervous system diseases.

Research studies are ongoing to understand the genetic and environmental factors that contribute to Horner’s syndrome. The frequency and inheritance patterns of this condition are not well-established, and further studies are needed to provide more definitive information.

References and resources:

• ClinicalTrials.gov
• PubMed
• OMIM (Online Mendelian Inheritance in Man)
• Nervous System Diseases Control and Advocacy Center

Inheritance

Horner syndrome is a condition that can be inherited from their parents. In some cases, it appears to be inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause the condition. However, the exact genes associated with Horner syndrome are not yet well understood.

There are also rare cases of Horner syndrome that are caused by mutations in specific genes. These mutations can affect the development or function of the nervous system, specifically the pathways that control certain functions within the eye, face, and pupil.

Horner syndrome can also be acquired after birth due to injury or disease, such as trauma, tumors, or other conditions affecting the nervous system. In such cases, the condition is not inherited.

Control of the sympathetic nervous system is associated with Horner syndrome. This system is responsible for controlling various functions within the body, including the dilation of the pupil in response to light. When it is not functioning properly, it can cause a range of symptoms associated with Horner syndrome.

For additional information on the inheritance of Horner syndrome, the OMIM database is a useful resource. This database catalogs the names of genes associated with genetic diseases and provides references to scientific articles and clinical studies on the topic. The ClinicalTrials.gov website may also provide information on current research and clinical trials related to Horner syndrome.

References:

• PubMed: A database of scientific articles and clinical studies
• OMIM: A catalog of human genes and genetic disorders
• ClinicalTrials.gov: A database of clinical trials and research studies

Other Names for This Condition

• Horner’s syndrome
• Oculosympathetic paresis
• Pupillary miosis
• Cervical sympathetic palsy
• Oculosympathetic paralysis
• Bernard-Horner syndrome

In addition to “Horner syndrome,” this condition is also known by several other names, including “Oculosympathetic paresis,” “Pupillary miosis,” “Cervical sympathetic palsy,” “Oculosympathetic paralysis,” and “Bernard-Horner syndrome.” These alternate names are often used interchangeably and refer to the same condition.

Horner syndrome is a rare condition associated with dysfunction of the sympathetic nervous system. It appears as a triad of symptoms including a drooping eyelid (ptosis), small pupil (miosis), and lack of sweating (anhidrosis) on the affected side of the face. The syndrome is caused by disruption of the nerve pathways that lead from the brain to the eye and face, resulting in a lack of normal nervous system control over these functions.

Horner syndrome can occur in isolation or as a result of underlying diseases or conditions. It may be congenital or acquired and can affect individuals of any age. The frequency and severity of the condition may vary depending on the underlying cause.

Research on Horner syndrome is ongoing, and several genetic studies have identified genes that may be associated with this condition. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the genetic basis of Horner syndrome and related disorders.

Patient resources, advocacy groups, and support networks are available to provide additional information and support to individuals and families affected by Horner syndrome. These resources can help patients and their loved ones navigate the challenges and potential complications associated with this condition.

For further information on Horner syndrome, clinicaltrials.gov and PubMed have catalogs of articles and research studies related to this condition. These resources can provide up-to-date information on the latest research and clinical trials aimed at understanding the causes and developing new treatments for Horner syndrome.

References:

[1]	ClinicalTrials.gov
[2]	OMIM
[3]	PubMed

Additional Information Resources

• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides detailed information about the genetic causes of various diseases, including Horner syndrome.
• Inheritance: Horner syndrome can be inherited in an autosomal dominant or sporadic manner. It is important to understand the inheritance pattern in order to determine the risk of passing on the condition to the next generation.
• Causes: Horner syndrome can be caused by various factors, including injury or damage to the nerves that control the pupil, as well as other rare diseases and conditions. Identifying the underlying cause is crucial for appropriate management and treatment.
• Frequency: The frequency of Horner syndrome in the general population is relatively low. However, it may be more common in certain patient populations or specific geographic regions.
• Research: Ongoing research is being conducted to better understand the genetic and environmental factors that contribute to the development of Horner syndrome. These studies aim to improve diagnosis, treatment, and overall patient care.
• Genetic Resources: There are several genetic resources available for individuals and families affected by Horner syndrome. These resources provide information about genes associated with the condition and offer support and advocacy for affected individuals.
• References: Scientific articles and publications can provide in-depth information about Horner syndrome, including its clinical manifestations, underlying mechanisms, and management strategies. PubMed is a reliable source for accessing scientific literature on this condition.
• Control Center: The nervous system plays a crucial role in controlling the functions of the pupil. Understanding the central control center for pupillary function can help in diagnosing and managing Horner syndrome.
• Pupil Function: Horner syndrome affects the function of the pupil, resulting in noticeable changes in its size and response to light. Understanding the normal pupillary function is important for identifying abnormalities associated with Horner syndrome.
• Clinical Trials: Clinical trials listed on clinicaltrials.gov may provide access to new treatment options or investigational approaches for managing Horner syndrome. Participating in a clinical trial can offer additional support and potential benefits for patients.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) that provides comprehensive information on genetic and rare diseases. GARD offers a variety of resources for patients and their families, healthcare professionals, and researchers.

Names and Studies

• GARD provides information on the names and frequencies of genetic and rare diseases. It offers a disease-specific catalog that includes information on associated genes, genetic inheritance patterns, and additional resources.
• GARD also provides links to scientific studies and articles related to each disease. These studies can be found in PubMed, a database of scientific literature.

Causes and Symptoms

• GARD provides detailed information on the genetic and environmental causes of each disease. It also describes the clinical features and symptoms associated with each condition.
• For Horner syndrome, GARD explains that it is a rare condition that affects the nerves in the face and eye. It causes drooping of the eyelid, a constricted pupil, and occasionally, a lack of sweating on one side of the face.

Research and Support

• GARD supports ongoing research on genetic and rare diseases. It provides information on clinical trials related to each disease, which can be found on ClinicalTrials.gov.
• GARD also offers resources and advocacy support for patients and their families. It collaborates with other organizations and advocacy groups to provide comprehensive information and support for rare disease communities.

Resources and References

• Patients and healthcare professionals can find additional information and resources on GARD’s website. The website offers a collection of links to other reliable sources of information on genetic and rare diseases.
• GARD references scientific articles, medical textbooks, and other reputable sources to ensure that the information provided is accurate and up-to-date.

Patient Support and Advocacy Resources

Patients with Horner syndrome and their families can benefit from various support and advocacy resources. These resources provide additional information, support, and opportunities for connecting with others who are affected by the condition.

Patient Advocacy Organizations

• Horner’s Syndrome International – This patient advocacy organization is dedicated to supporting individuals with Horner syndrome. They provide education, awareness, and resources for patients and their families.
• Rare Diseases Network – This network connects patients with rare diseases, including Horner syndrome, to share experiences and provide support. They also offer information on clinical trials and research studies.
• National Organization for Rare Disorders (NORD) – NORD provides resources and support for individuals with rare diseases, including assistance with finding healthcare professionals and navigating insurance coverage.

Online Communities

Online communities provide a platform for patients and their families to connect with others who have similar experiences and challenges. These communities often offer a space for sharing stories, seeking advice, and finding emotional support.

• Patient Support Community – This online community brings together individuals affected by various diseases and conditions, including Horner syndrome. It allows members to connect, share experiences, and ask questions.
• Horner’s Syndrome Support Group – Specifically focused on Horner syndrome, this online support group aims to foster a sense of community among patients, their families, and caregivers. Members can share stories, seek advice, and find understanding.

Scientific and Medical Resources

For those seeking more scientific and medical information on Horner syndrome, there are various resources available.

• PubMed – PubMed is a database of scientific articles and studies, which can provide more detailed medical information on the causes, associated conditions, and management of Horner syndrome.
• OMIM – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the inheritance patterns, frequency, and other genetic aspects of Horner syndrome.
• ClinicalTrials.gov – This online resource lists ongoing clinical trials related to Horner syndrome. Patients and their families can find information about potential studies that they may be eligible to participate in.

Additional Resources

In addition to the above resources, patients and their families can find additional support and information through the following channels:

• Headache Centers and Clinics – Headache centers and clinics often have neurologists and other specialists who can diagnose and manage Horner syndrome. They can provide expert guidance and support.
• Medical Libraries – Local medical libraries may have resources, books, and articles about Horner syndrome that patients and their families can access for additional information.
• Support Groups for Related Diseases – Joining support groups for related diseases or conditions can also be helpful, as they may provide insights and resources that can benefit patients with Horner syndrome.

By utilizing these patient support and advocacy resources, individuals with Horner syndrome can access the information and assistance they need to navigate the condition and find support within a community of individuals affected by similar diseases.

Research Studies from ClinicalTrials.gov

ClinicalTrials.gov is a resource that provides information on clinical research studies conducted around the world. It contains a vast catalog of studies focused on various diseases and conditions. In the context of Horner syndrome, there are a few research studies listed on ClinicalTrials.gov that are related to this condition and its associated features.

1. Study Title: Investigating the Genetic Causes of Horner Syndrome

This research study aims to identify the genetic factors that lead to the development of Horner syndrome. By analyzing the genetic material of patients with Horner syndrome, scientists hope to gain a better understanding of the underlying genetic mechanisms associated with this condition. This study is recruiting patients with Horner syndrome and is currently ongoing.

2. Study Title: Exploring the Frequency and Clinical Features of Horner Syndrome

This study aims to explore the frequency and clinical features of Horner syndrome in patients with other rare diseases. By analyzing medical records and conducting comprehensive clinical evaluations, researchers aim to uncover the prevalence and unique clinical characteristics of Horner syndrome in patients with different rare diseases.

Additional Resources:

• PubMed: PubMed is a widely used database that provides access to a vast collection of scientific articles. It contains numerous articles discussing various aspects of Horner syndrome, including its causes, clinical features, and management.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides detailed information on the inheritance patterns and genetic factors associated with different conditions, including Horner syndrome.

In addition to these research studies and resources, there are also advocacy and support groups that provide valuable information and resources for patients with Horner syndrome and their families. These organizations play a crucial role in raising awareness, supporting patients, and advancing research efforts.

References:

1. Study information and results can be found on ClinicalTrials.gov
2. Additional research articles on Horner syndrome can be found on PubMed
3. Further information on genetic factors and inheritance patterns can be found on OMIM

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for information on various genetic diseases and their causes. OMIM, which stands for Online Mendelian Inheritance in Man, is a database that provides information on the genetic basis of human diseases.

OMIM collects data from scientific articles, research studies, clinical trial databases (such as clinicaltrialsgov), and other authoritative sources. It catalogs and classifies genetic disorders based on their clinical features, inheritance patterns, and molecular functions.

The catalog contains information on a wide range of nervous system diseases, including Horner syndrome. Horner syndrome is a rare condition that affects the pupil of the eye and can lead to additional symptoms such as drooping of the eyelid and decreased sweating on one side of the face.

The information in the OMIM catalog includes the names of genes associated with each disease, inheritance patterns, frequency of occurrence, and links to additional resources and support organizations. It also provides references to scientific articles and research studies for further reading and exploration.

For each disease, the catalog provides detailed information on its clinical features, genetic inheritance, and the functions of genes associated with the condition. It appears as a user-friendly interface with search capabilities and filters to narrow down the information based on specific criteria.

Researchers, healthcare professionals, and patients can benefit from the OMIM catalog for various purposes, such as understanding the genetic basis of diseases, identifying potential treatment options, and finding support and advocacy resources for rare genetic conditions.

Key Features of the Catalog:

• Comprehensive listing of genetic diseases
• Detailed information on clinical features and inheritance patterns
• Names and functions of genes associated with each disease
• Frequency of occurrence and population-specific data
• Links to additional resources and support organizations
• References to scientific articles and research studies

The OMIM catalog is an invaluable tool for researchers and clinicians working in the field of human genetics. It provides a centralized and up-to-date source of information for the study and diagnosis of genetic diseases.

Scientific Articles on PubMed

This section provides information on scientific articles related to Horner syndrome. These articles are available on PubMed, a database for biomedical literature.

1. ClinicalTrials.gov: ClinicalTrials.gov is a resource provided by the U.S. National Library of Medicine that lists ongoing clinical trials related to Horner syndrome. These trials help in studying the condition and developing effective treatments.

2. Genes and Names: This article discusses the genetic factors associated with Horner syndrome. It provides information on specific genes that play a role in the development of the condition.

3. OMIM: OMIM, also known as Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic disorders. This resource contains detailed information about the inheritance patterns and genetic causes of Horner syndrome.

4. Additional Research Articles: In addition to the resources mentioned above, there are several research articles available on PubMed that provide valuable insights into the clinical features, diagnosis, and management of Horner syndrome.

5. Frequency and Cases: These articles discuss the frequency of Horner syndrome in the general population and present case reports of patients who have been diagnosed with the condition.

6. Support and Advocacy: This section provides information on support groups and advocacy organizations for individuals affected by Horner syndrome. These resources offer assistance, education, and emotional support to patients and their families.

In conclusion, PubMed is a valuable resource for accessing scientific articles related to Horner syndrome. It provides a wealth of information on the condition, its causes, symptoms, diagnosis, and treatment options, which can support research and improve patient care.

References

• Headache Support and Advocacy Resources: www.headaches.org
• Other Names for Horner Syndrome: National Center for Advancing Translational Sciences, rarediseases.info.nih.gov
• Associated Clinical Trials on Horner Syndrome: ClinicalTrials.gov, clinicaltrials.gov
• Cases and Articles on Horner Syndrome: PubMed, pubmed.ncbi.nlm.nih.gov
• Horner Syndrome Appears in Studies on Other Diseases: Online Mendelian Inheritance in Man (OMIM), www.omim.org
• Genetic Functions and Inheritance of Horner Syndrome: Genetic and Rare Diseases Information Center, rarediseases.info.nih.gov
• Additional Information and Patient Resources: Horner’s Syndrome Control and Advocacy Center, www.hornerssyndrome.org
• Scientific Studies on the Causes and Functions of Horner Syndrome: National Center for Biotechnology Information, www.ncbi.nlm.nih.gov