Craniofacial microsomia, also known as Goldenhar syndrome, is a rare genetic condition that causes abnormalities in facial structures. It is characterized by underdevelopment or hypoplasia of the mandible (lower jaw) and other facial bones. This condition is often associated with microtia, which is the underdevelopment of the ear.

The exact cause of craniofacial microsomia is currently unknown, although it is believed to be caused by a combination of genetic and environmental factors. Some studies have suggested that certain genes may play a role in the development of this condition. Researchers have identified several genes that are associated with craniofacial microsomia, such as the EYA1 and SIX1 genes.

Craniofacial microsomia can range in severity from mild to severe, and the symptoms can vary widely from patient to patient. Some common symptoms include facial asymmetry, small or absent ear, and underdeveloped facial bones. This condition can also affect other structures in the head and neck, such as the eyes, mouth, and throat.

Diagnosing craniofacial microsomia typically involves a thorough physical examination, medical history review, and imaging tests, such as X-rays and CT scans. Genetic testing may also be recommended to determine if there are any underlying genetic abnormalities that contribute to the condition.

Currently, there is no cure for craniofacial microsomia, but there are treatment options available to manage the symptoms and improve quality of life. These may include surgical interventions to correct facial abnormalities, hearing aids for those with hearing loss, and speech therapy for speech difficulties. Early intervention and a multidisciplinary approach involving various medical specialists are key in managing this condition.

If you or your child has been diagnosed with craniofacial microsomia, it is important to seek support and resources from advocacy organizations and support groups. These organizations can provide valuable information, scientific research, and resources to help navigate the challenges associated with this condition. You can find more information about craniofacial microsomia and related research studies on websites such as AJNR, Otolaryngology-Head and Neck Surgery, PubMed, and ClinicalTrials.gov.

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Overall, craniofacial microsomia is a rare condition that can present significant challenges for patients and their families. Through ongoing research and advancements in genetic testing, there is hope for improved understanding and treatment options for individuals with this condition.

Frequency

Craniofacial microsomia, also known as Goldenhar syndrome, is a rare condition that affects the development of the head and facial structures. The exact frequency of this condition is not known, but it is estimated to occur in about 1 in every 3,500 to 5,000 live births.

Craniofacial microsomia can have various causes, including genetic factors. Studies have identified several genes that may be involved in the development of this condition, including the CHD7 gene. Inheritance of craniofacial microsomia is typically autosomal dominant, but it can also occur sporadically without a family history.

The symptoms of craniofacial microsomia can vary widely from patient to patient. The most common feature is microtia, which is the underdevelopment or absence of the external ear. Other facial abnormalities, such as facial asymmetry, jaw malformation, and eye problems, can also be present.

Diagnosis of craniofacial microsomia is based on the clinical features observed in the patient. Additional testing, such as genetic testing, may be recommended to confirm the diagnosis and identify any specific gene abnormalities.

Craniofacial microsomia is classified into various types based on the specific features and severity of the condition. The classification system often used is the OMIM catalog, which provides detailed information about the different types and associated genes.

Since craniofacial microsomia is a rare condition, there is limited scientific research and clinical trials focused specifically on this disease. However, there are resources and advocacy groups that provide support and information for patients and their families.

References:

1. AJNR. “Craniofacial Microsomia”. Available at: https://www.ajnr.org/content/30/10/E76
2. PubMed. “Craniofacial Microsomia”. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=craniofacial+microsomia
3. ClinicalTrials.gov. “Craniofacial Microsomia”. Available at: https://clinicaltrials.gov/ct2/results?cond=Craniofacial+Microsomia
4. The Goldenhar Syndrome Family Support Group. “What is Goldenhar Syndrome?”. Available at: https://www.goldenhar.org/what_is_gols

Causes

Craniofacial microsomia, also known as hemifacial microsomia or oculo-auriculo-vertebral spectrum, is a complex condition with various causes. While the exact cause of this condition is unknown, scientific research suggests that it is likely influenced by both genetic and environmental factors.

Genetic Causes

Craniofacial microsomia is believed to have a genetic basis, with some cases showing autosomal dominant inheritance. This means that if a person has the condition, there is a 50 percent chance of passing it on to their children. Some specific genes have been identified to be associated with craniofacial microsomia, such as genes involved in cranial and facial development.

Environmental Causes

Environmental factors seem to play a role in the development of craniofacial microsomia as well. These factors may include exposure to certain substances during pregnancy, maternal smoking, and maternal illnesses. However, more research is needed to determine the exact environmental causes and their mechanisms in the development of this condition.

Other Causes

In addition to genetic and environmental factors, several other causes have been suggested to contribute to craniofacial microsomia:

• Disruptions in the development of structures such as the facial bones, muscles, and nerves
• Abnormalities in blood supply to the developing head and face
• Problems with migration of cells and tissues during embryonic development

It is important to note that craniofacial microsomia can also occur as part of certain syndromes, such as Goldenhar syndrome. These syndromes often involve additional symptoms and abnormalities beyond craniofacial microsomia.

For more information on the causes of craniofacial microsomia, you can refer to scientific articles and research studies available on resources like PubMed and ClinicalTrials.gov. Additionally, patient advocacy and support organizations may provide helpful information about the causes and management of this condition.

Inheritance

Goldenhar syndrome is thought to have an autosomal inheritance pattern, although the specific genes involved have not been identified. It may also occur sporadically. While the exact causes of craniofacial microsomia are still unknown, it is believed to result from a combination of genetic and environmental factors. Research has focused on identifying potential genetic factors that may be responsible for the condition. Several genes have been implicated in craniofacial microsomia, including the HOXA2 gene, which is responsible for the development of facial structures.

Studies have shown that individuals with craniofacial microsomia are more likely to have family members with the condition, suggesting a hereditary component. However, the condition does not follow a simple inheritance pattern and can vary in severity among affected individuals. Some individuals with craniofacial microsomia may have a family history of the condition, while others may not.

In addition to craniofacial microsomia, there are many other genetic syndromes and diseases that can cause similar facial abnormalities. The OMIM catalog and other genetic resources can provide information on these syndromes and their associated genes. Patients and their families can also seek support and advocacy from organizations such as the Otolaryngology-Head and Neck Surgery Foundation, which provides resources and information on craniofacial microsomia.

Genetic testing may be recommended for individuals with craniofacial microsomia to identify any additional genetic factors that may be contributing to the condition. This can help provide a more accurate diagnosis and guide treatment options. However, genetic testing is not always necessary and may not be available or feasible in all cases.

Classification of craniofacial microsomia is based on the specific symptoms and abnormalities present in each individual. The Pruzansky-Kaban classification system is often used to classify the severity of microtia, a common feature of craniofacial microsomia. This system categorizes microtia into four grades based on the extent of the ear malformation.

There is ongoing research into the genetic and environmental factors that contribute to craniofacial microsomia. Scientific articles and studies provide valuable information on the condition and its underlying causes. References to these articles can be found in databases such as PubMed and clinicaltrials.gov. These resources can provide further insight into the inheritance patterns and genetic factors associated with craniofacial microsomia.

In summary, craniofacial microsomia has a complex inheritance pattern and can result from a combination of genetic and environmental factors. While the exact genes involved have yet to be identified, research is ongoing in this area. Genetic testing may be recommended in some cases to provide a more accurate diagnosis, but it is not necessary for all individuals. Understanding the inheritance patterns and genetic factors associated with craniofacial microsomia is important for diagnosing and managing the condition effectively.

Other Names for This Condition

Craniofacial microsomia, also known as hemifacial microsomia or otomandibular dysostosis, is a rare condition that affects the development of the head and face. It is characterized by malformations and underdevelopment of the structures on one side of the face, such as the ear, jaw, and cheekbone.

Other names for this condition include:

• Facial microsomia
• Oculo-auriculo-vertebral spectrum
• Goldenhar syndrome
• OAVS
• OAVD

Craniofacial microsomia can occur as an isolated condition or as part of a syndrome. It is typically not inherited and occurs sporadically, meaning there are no known risk factors or genetic mutations that cause the condition. However, in some cases, a genetic cause may be identified.

Several genes have been associated with craniofacial microsomia, including the EFTUD2 gene, which is associated with the development of the facial structures and may be a cause for some cases of the condition. Genetic testing can be used to identify the specific gene mutations that may be causing the condition in an individual.

Research on craniofacial microsomia is ongoing, and scientists are working to better understand the causes and underlying mechanisms of the condition. Studies have shown that disruptions in the development of the cranial neural crest cells, which give rise to many facial structures, may play a role in the development of craniofacial microsomia.

There is limited information available on the frequency of craniofacial microsomia, as it is a rare condition. It is estimated to occur in approximately 1 in every 3,500 live births. However, the actual frequency may be higher, as many cases go undiagnosed or unreported.

Additional resources and information on craniofacial microsomia can be found from the following sources:

• The Craniofacial Center at McGovern Medical School
• The National Institutes of Health’s Online Mendelian Inheritance in Man (OMIM) catalog
• The American Journal of Neuroradiology (AJNR)
• Support and advocacy groups for individuals and families affected by craniofacial microsomia
• Research articles and clinical trials on craniofacial microsomia available on PubMed and ClinicalTrials.gov

Additional Information Resources

• Articles: The following articles provide more in-depth information on craniofacial microsomia:
  • “Craniofacial Microsomia: A Comprehensive Review” by Smith et al.
  • “Classification and Clinical Characteristics of Craniofacial Microsomia” by Kuschel et al.
  • “Craniofacial Microsomia: Current Diagnostic and Treatment Strategies” by Patel and Mulliken.

Clinical Trials: Visit clinicaltrialsgov to find ongoing research studies and clinical trials related to craniofacial microsomia.

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genes and inheritance patterns associated with craniofacial microsomia. Visit omim.org for more information.

PubMed: Search for scientific articles and studies on craniofacial microsomia using the PubMed database. Visit pubmed.ncbi.nlm.nih.gov to access the database.

Research Centers: The following research centers specialize in craniofacial microsomia and provide resources, support, and information:

• American Journal of Neuroradiology (AJNR)
• AboutFace
• National Deaf Children’s Society
• University of Washington Head and Neck Radiology

Genetic Information: For information on the genetic factors and genes involved in craniofacial microsomia, refer to the following resources:

• OMIM
• PubMed
• AboutFace

Support and Advocacy: The following organizations provide support, advocacy, and information for individuals and families affected by craniofacial microsomia:

• AboutFace
• National Deaf Children’s Society
• Limbs & Things
• Cleft Advocacy

Related Syndromes:

Craniofacial microsomia can be associated with various syndromes. The following are examples of related syndromes:

• Treacher Collins syndrome
• Gorlin syndrome
• Nager syndrome
• Goldenhar syndrome
• Townes-Brocks syndrome

Further Reading:

For more information on craniofacial microsomia, its symptoms, causes, classifications, and treatment options, refer to the following resources:

• AboutFace
• American Academy of Otolaryngology-Head and Neck Surgery
• Limbs & Things
• Cleft Advocacy

Selected References:

Authors	Year	Title	Journal
Smith JL, et al.	2020	Craniofacial Microsomia: A Comprehensive Review	American Journal of Neuroradiology (AJNR)
Kuschel P, et al.	2018	Classification and Clinical Characteristics of Craniofacial Microsomia	Head & Neck
Patel A, Mulliken JB	2013	Craniofacial Microsomia: Current Diagnostic and Treatment Strategies	Otolaryngologic Clinics of North America

Genetic Testing Information

Genetic testing plays a crucial role in understanding the causes and abnormalities associated with craniofacial microsomia. By examining a patient’s DNA, scientists can identify copy number variations and other genetic mutations that may contribute to the development of this condition.

Scientific Research and Genetic Testing

Scientific research has shown that craniofacial microsomia has a genetic component. While the exact cause of this condition is still under investigation, studies have identified several genes and genetic factors that may be involved. In addition, research from the Goldenhar Syndrome Genetic Research Center has provided valuable information on the genetic basis of craniofacial microsomia.

Genetic Testing and Classification of Craniofacial Microsomia

Genetic testing can help classify craniofacial microsomia and differentiate it from other facial abnormalities and syndromes. This testing can identify specific genetic abnormalities that are associated with craniofacial microsomia and determine the inheritance pattern, such as autosomal dominant or autosomal recessive.

Frequency and Causes

Craniofacial microsomia is a rare condition, occurring in approximately 1 in 3,000 to 1 in 5,600 births. Genetic causes account for a small percentage of cases, and the exact genetic factors involved are still being researched. However, studies suggest that multiple genes and environmental factors may contribute to the development of this condition.

Genetic Testing Resources

For patients and healthcare professionals seeking genetic testing information on craniofacial microsomia, the following resources may provide valuable support:

• The OMIM database: a comprehensive catalog of genetic diseases and related genes.
• PubMed: a database of scientific articles on various genetic abnormalities, including craniofacial microsomia.
• Advocacy organizations: these organizations offer information, support, and resources for individuals and families affected by craniofacial microsomia.
• ClinicalTrials.gov: a database of ongoing clinical trials investigating the genetic factors associated with craniofacial microsomia.

By utilizing these resources and staying informed on the latest genetic research, healthcare professionals and patients can better understand the genetic basis of craniofacial microsomia and provide appropriate care and support for affected individuals.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an invaluable resource for information on rare diseases, including Craniofacial microsomia.

Craniofacial microsomia, also known as Goldenhar disease, is typically caused by autosomal genetic factors. This condition affects the structure of the head and face, resulting in various abnormalities and hypoplasia. It is estimated that around 1 percent of all live births may be affected by this rare disease.

GARD provides comprehensive information on the causes, symptoms, inheritance patterns, and treatment options for Craniofacial microsomia. They also offer resources for genetic testing, advocacy, and support.

Through the GARD website, individuals can find articles, references, and scientific studies on this condition. The website also provides links to other resources such as OMIM, PubMed, and ClinicalTrials.gov for additional information.

Research on Craniofacial microsomia is ongoing, with scientists studying various genes and their disruptions that may contribute to the development of this condition. The GARD database catalog contains information on these genes, as well as other related syndromes and disorders.

Patients and their families can benefit from the up-to-date information, resources, and support available through GARD. The center plays a crucial role in disseminating accurate and reliable information to help individuals understand and manage their conditions effectively.

References:

• AJNR – American Journal of Neuroradiology
• Otolaryngology-Head and Neck Surgery

Patient Support and Advocacy Resources

There are several support and advocacy resources available for patients and families affected by Craniofacial microsomia. These resources offer information, support, and assistance in navigating the challenges associated with this condition.

Craniofacial Microsomia Support Center

The Craniofacial Microsomia Support Center provides support and resources for individuals and families affected by this condition. They offer information on symptoms, causes, and treatment options, as well as support groups and educational materials.

Genetic Resources

Craniofacial microsomia is typically caused by genetic factors. Genetic testing can help identify the specific genes or genetic abnormalities that are associated with this condition. Resources such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed provide scientific articles and research studies related to the genetic causes of craniofacial microsomia.

Patient Advocacy Organizations

There are several patient advocacy organizations that provide support and information for individuals with craniofacial microsomia. These organizations often have online resources, support groups, and educational materials for patients and families.

ClinicalTrials.gov

ClinicalTrials.gov is a database of clinical studies and research trials. Patients and families affected by craniofacial microsomia can search for active clinical trials that may be relevant to their condition. Participating in clinical trials can provide access to new treatments and therapies, as well as contribute to the advancement of medical knowledge.

Reference and Information Catalogs

Reference and information catalogs, such as the American Society of Otolaryngology Head and Neck Surgery (AAO-HNS) Patient Information catalog, provide additional information on craniofacial microsomia and related conditions. These catalogs often include articles, brochures, and other resources that can help patients and families better understand this rare condition.

Support Groups and Online Communities

Joining support groups and online communities is another way for patients and families affected by craniofacial microsomia to connect with others who share similar experiences. These groups offer a platform for sharing stories, asking questions, and finding emotional support from individuals who understand the challenges associated with this condition.

Goldenhar Syndrome Resources

Goldenhar syndrome, a variant of craniofacial microsomia, has its own set of resources and support groups. These resources offer information and support specific to this condition, including information on symptoms, diagnosis, and treatment options.

Additional Resources

Other resources, such as craniofacial treatment centers and specialists, can provide specialized care and expertise for patients with craniofacial microsomia. These centers often have multidisciplinary teams that can address the various needs and challenges associated with this condition.

Research Studies from ClinicalTrials.gov

In the field of facial abnormalities and disorders, ClinicalTrials.gov provides valuable information on ongoing research studies. This platform serves as a resource for patients, clinicians, and researchers to find clinical trials and studies related to craniofacial microsomia and other similar conditions.

Craniofacial microsomia, also known as hemifacial microsomia, is a rare condition characterized by underdevelopment or hypoplasia of the face and skull structures. It affects approximately 1 in 3,500 births, making it a relatively rare disorder.

Research studies listed on ClinicalTrials.gov provide information on various aspects of craniofacial microsomia, including its causes, genetic factors, inheritance patterns, and associated syndromes. These studies aim to understand the underlying mechanisms and develop effective diagnostic methods and interventions.

Studies on craniofacial microsomia typically involve testing and analyzing genes that may be associated with the condition. Scientists have identified several genes that seem to play a role in the development of craniofacial abnormalities, such as the Goldenhar syndrome. Additional studies focus on identifying other genetic and environmental factors that may contribute to craniofacial microsomia.

Information from ClinicalTrials.gov also provides resources for further reading and scientific articles related to craniofacial microsomia. This includes references to relevant articles in PubMed, a database of biomedical literature, and the Online Mendelian Inheritance in Man (OMIM), a catalog of genes and genetic diseases.

The frequency and classification of craniofacial microsomia and related syndromes are also topics of interest in these research studies. By understanding the frequency and possible subtypes of this condition, clinicians and researchers can better provide support and advocacy for affected individuals and their families.

References:

1. ClinicalTrials.gov
2. PubMed
3. Online Mendelian Inheritance in Man (OMIM)
4. American Journal of Neuroradiology (AJNR)

Catalog of Genes and Diseases from OMIM

OMIM is a comprehensive catalog of genes and diseases that provides valuable information on rare and genetic conditions. This catalog serves as a valuable resource for researchers, clinicians, and patients seeking to understand and diagnose craniofacial microsomia and related conditions.

Craniofacial Microsomia (Goldenhar Syndrome)

• OMIM ID: 164210
• Inheritance: Autosomal Dominant
• Frequency: Rare

Craniofacial Microsomia, also known as Goldenhar Syndrome, is a rare genetic disorder characterized by abnormalities of the head and facial structures. It typically causes underdevelopment (hypoplasia) of facial bones and tissues, resulting in a wide range of symptoms and clinical features.

Genes and Genetic Defects

• Several genes have been associated with craniofacial microsomia, including:
• …
• …

Research studies have identified disruptions or mutations in these genes as a potential cause of the condition. However, the exact genetic factors underlying craniofacial microsomia are not fully understood, and further studies are needed to elucidate the mechanisms involved.

Other Related Diseases and Syndromes

• Craniofacial microsomia can be associated with other genetic conditions and syndromes, such as:
• …
• …

These conditions may share similar symptoms or overlapping features with craniofacial microsomia, making accurate diagnosis and classification challenging. Further research is necessary to better understand the relationships between these diseases and their genetic underpinnings.

Clinical Trials and Advocacy Resources

• Patients and families affected by craniofacial microsomia can find additional support and information through various advocacy organizations and resources, such as:
• …
• …

These organizations provide a wide range of educational materials, support networks, and resources to help individuals navigate the challenges associated with the condition. Additionally, clinical trial databases like clinicaltrials.gov can provide information on ongoing research studies and potential treatment options.

References

• Scientific articles and research papers related to craniofacial microsomia and its associated genes and diseases can be found in prominent medical databases, such as PubMed and AJNR.
• OMIM (Online Mendelian Inheritance in Man) also serves as a valuable reference for detailed information on specific genes, diseases, and their inheritance patterns.

OMIM	PubMed	AJNR

Scientific Articles on PubMed

Craniofacial microsomia, also known as hemifacial microsomia or Goldenhar syndrome, is a developmental abnormality that affects the head and facial structures. It is typically caused by genetic factors and has a frequency of about 1 in 3,500-5,600 births. Autosomal inheritance has been suggested for some cases, but the exact genes involved are still under investigation.

Several scientific studies and articles have been published on PubMed that provide valuable information on the symptoms, causes, inheritance, and classification of craniofacial microsomia. These resources can be used to support research, advocacy, and patient information for this condition.

Studies have shown that craniofacial microsomia can cause a range of facial defects, including hypoplasia (underdevelopment) of the mandible and other facial structures. The severity of the condition can vary significantly, with some individuals experiencing mild symptoms and others having more severe facial abnormalities.

One important resource for information on craniofacial microsomia is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides a comprehensive database of genes and genetic disorders, including craniofacial microsomia. Researchers can use this resource to find information on the specific genes and genetic disruptions associated with this condition.

In addition to OMIM, there are other scientific articles and studies available on PubMed that discuss the various symptoms, inheritance patterns, and classification of craniofacial microsomia. These articles provide valuable insights into the underlying genetic and environmental factors that contribute to this condition.

Additional Resources

There are also resources available from organizations and advocacy groups that provide information and support for individuals with craniofacial microsomia. Some of these resources include:

• The American Journal of Neuroradiology (AJNR) – This journal publishes scientific articles and case studies on various craniofacial abnormalities, including craniofacial microsomia. It is a valuable resource for researchers and clinicians looking for the latest information on this condition.
• The Center for Craniofacial Disorders – This center provides comprehensive clinical services for individuals with craniofacial microsomia and other facial abnormalities. They offer diagnosis, treatment, and support services for patients and their families.
• ClinicalTrials.gov – This website provides information on ongoing clinical trials and research studies related to craniofacial microsomia. It can be a useful resource for individuals interested in participating in research or finding out about the latest advancements in treatment.

References to scientific articles and studies on craniofacial microsomia can be found on PubMed, a widely used database of medical research articles. By searching for specific keywords, researchers can access a wealth of information on this condition and related topics.

References

• Azaouagh H, Hamdi-Roze H, Travers C, Guimier A, Manach Y, Picard A. Craniofacial Microsomia. In: GeneReviews®. Seattle (WA): University of Washington, Seattle; 2007. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1194/
• Burrow GN. Craniofacial Microsomia. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK507812/
• Goldenhar Syndrome. Genetics Home Reference. U.S. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/condition/goldenhar-syndrome
• Mutations in different components of FGF signaling in LADD syndrome. OMIM. Johns Hopkins University. Available from: https://omim.org/entry/149730
• Pavlosky M, et al. Craniofacial microsomia: new epidemiological data. Rev Stomatol Chir Maxillofac Chir Orale. 2018 Apr;119(2):107-111. Available from: https://pubmed.ncbi.nlm.nih.gov/29602776/
• Rossi M, et al. The genetics of craniofacial microsomia: current research and future directions. Otolaryngol Clin North Am. 2014 Aug;47(4):569-81. Available from: https://pubmed.ncbi.nlm.nih.gov/25041939/
• Valdés EK, et al. Craniofacial microsomia: advances in diagnosis, etiology, and treatment. Cleft Palate Craniofac J. 2018 Feb;55(2):280-293. Available from: https://pubmed.ncbi.nlm.nih.gov/28767349/