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Treacher Collins syndrome is a rare genetic condition that affects the development of bones and other tissues in the face. It is caused by mutations in the TCOF1 and POLR1D genes. This condition is inherited in an autosomal dominant manner, which means that an affected person has a 50 percent chance of passing the condition on to each of their children.

People with Treacher Collins syndrome often have distinctive facial features, including a small jaw and chin, downward-slanting eyes, and malformed or absent ears. These physical characteristics can cause a range of problems, including difficulty breathing, hearing loss, and problems with speech and eating.

There is currently no cure for Treacher Collins syndrome, but treatment options are available to manage the symptoms and improve quality of life. This may include surgical interventions to correct facial deformities, hearing aids or cochlear implants to address hearing loss, and speech therapy to improve communication skills.

Support and additional resources for individuals and families affected by Treacher Collins syndrome are available from various organizations, such as the Treacher Collins Syndrome Foundation and advocacy groups. Scientific research for this condition is ongoing, and there are a number of studies and clinical trials listed on the National Institutes of Health’s clinicaltrialsgov website.

For more information about Treacher Collins syndrome, including resources, research articles, and genetic testing options, visit the National Human Genome Research Institute’s Genetic and Rare Diseases Information Center (GARD) website, or search for related articles on PubMed, a free database of scientific publications.

Frequency

The Treacher Collins syndrome is a rare genetic condition that affects the development of bones and other tissues in the face. It is estimated that the condition affects about 1 in every 10,000 to 50,000 births worldwide.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

The syndrome is caused by mutations in the TCOF1 (treacle) or POLR1D genes, which play a role in the formation of facial structures during early development. These genes are responsible for the production of certain proteins that are necessary for the proper development of facial tissues.

About 40 to 50 percent of cases of Treacher Collins syndrome are thought to be inherited, meaning they are passed down from a parent who carries the mutated gene. The remaining cases occur sporadically, with no family history of the condition.

Individuals with Treacher Collins syndrome may have a range of symptoms, including hearing loss, problems with vision, and cleft palate. The severity of the condition can vary widely between individuals, even within the same family.

There is no cure for Treacher Collins syndrome, but there are treatments available to manage the symptoms and improve quality of life. These can include surgery to correct facial abnormalities, hearing aids or cochlear implants to address hearing loss, and speech therapy for speech and language difficulties.

There are ongoing research studies and clinical trials aimed at better understanding the causes of Treacher Collins syndrome and developing new treatments. Resources for more information and support for individuals and families affected by the condition can be found at the Treacher Collins Advocacy Network and the Treacher Collins Syndrome Foundation.

Genetic testing can confirm a diagnosis of Treacher Collins syndrome and identify the specific gene mutation responsible in some cases. This information can be valuable for understanding the inheritance pattern of the condition and for providing genetic counseling to affected individuals and their families.

Additional information on Treacher Collins syndrome can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and the Genetic and Rare Diseases Information Center.

Causes

Treacher Collins syndrome is a rare genetic condition that affects the development of bones and other tissues in the face. It is caused by mutations in the TCOF1, POLR1D, or POLR1C genes, with TCOF1 being the most commonly associated gene. The condition is inherited in an autosomal dominant manner, which means that a person with Treacher Collins syndrome has a 50 percent chance of passing the condition on to each of their children.

TCOF1 is the gene most often associated with Treacher Collins syndrome. Mutations in this gene lead to a decrease in the amount of a protein called treacle, which is involved in the development and growth of cells in the face. The exact way in which these mutations cause the specific problems seen in Treacher Collins syndrome is not fully understood.

Other genes, including POLR1D and POLR1C, have also been found to cause Treacher Collins syndrome. Mutations in these genes account for a small percentage of cases.

There are resources available to learn more about the genetic causes of Treacher Collins syndrome. The National Center for Biotechnology Information (NCBI) provides a comprehensive catalog of genes and genetic diseases, including Treacher Collins syndrome. Their database, Online Mendelian Inheritance in Man (OMIM), contains information on the genetic causes of Treacher Collins syndrome and links to additional articles and scientific research.

Genetic testing is available for the diagnosis of Treacher Collins syndrome. This testing can help confirm the presence of mutations in the TCOF1, POLR1D, or POLR1C genes. It can also be used to determine if a person is a carrier of the condition, which can be important for family planning.

Currently, there is no cure for Treacher Collins syndrome. Treatment options focus on managing the symptoms and providing support for individuals with the condition. This may involve surgeries to correct cleft palate and other facial abnormalities, hearing aids or other assistive devices to address hearing loss, and speech therapy to improve communication skills.

Advocacy organizations and patient support groups can provide additional information and resources for individuals and families affected by Treacher Collins syndrome. ClinicalTrials.gov is a database that provides information on ongoing clinical trials and research studies related to Treacher Collins syndrome. These studies may offer opportunities for individuals to participate in research aimed at improving our understanding of the condition and developing new treatments.

Learn more about the genes associated with Treacher Collins syndrome

Treacher Collins syndrome (TCS) is a rare genetic condition that affects the development of bones and tissues in the face. It is also called mandibulofacial dysostosis or Franceschetti-Zwahlen-Klein syndrome. TCS is usually inherited in an autosomal dominant pattern, which means that an abnormal copy of one of the genes associated with TCS is enough to cause the condition.

There are currently three genes known to be associated with Treacher Collins syndrome:

  1. TCOF1 (treacle) gene: The TCOF1 gene provides instructions for making a protein called treacle, which is involved in the development of craniofacial structures. Mutations in this gene are the most common cause of TCS.
  2. POLR1C (RNA polymerase I subunit C) gene: Mutations in the POLR1C gene have been found in a small number of individuals with Treacher Collins syndrome. The protein produced by this gene is involved in the production of ribosomes, which are essential for protein synthesis.
  3. POLR1D (RNA polymerase I subunit D) gene: Mutations in the POLR1D gene have also been identified in a small percentage of TCS cases. The protein produced by this gene is also involved in ribosome production.
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Scientists are still studying these genes and how mutations in them cause Treacher Collins syndrome. If you would like to learn more about the scientific studies and research on this condition, you can search for relevant articles using PubMed (www.ncbi.nlm.nih.gov/pubmed) or the Online Mendelian Inheritance in Man (OMIM) database (www.omim.org).

If you or someone you know has been diagnosed with Treacher Collins syndrome, it is important to seek support and information. There are several advocacy and support groups dedicated to providing resources and assistance to individuals and families affected by rare diseases like TCS. These organizations can offer information about the condition, treatment options, and connect you with other individuals who have similar experiences. Some examples of these organizations include the Treacher Collins Foundation, the European Association for Cranio-Maxillofacial Surgery, and the Genetic Support Foundation.

Genetic testing can also be helpful in diagnosing Treacher Collins syndrome. ClinicalTrials.gov is a valuable resource for finding ongoing studies and clinical trials related to TCS genetic testing and treatment options.

For additional information on Treacher Collins syndrome and the genes associated with the condition, you can refer to the following references:

  • “Treacher Collins syndrome.” GeneReviews. GeneReviews, 1993. Available at: www.ncbi.nlm.nih.gov/books/NBK1532/.
  • “Treacher Collins Syndrome.” American Society of Human Genetics. Available at: www.ashg.org/education/policy_educ_treacher_collins.shtml.
  • “POLR1C gene.” Genetics Home Reference. U.S. National Library of Medicine, Available at: https://ghr.nlm.nih.gov/gene/POLR1C.
  • “POLR1D gene.” Genetics Home Reference. U.S. National Library of Medicine, Available at: https://ghr.nlm.nih.gov/gene/POLR1D.

Remember, the more you learn about Treacher Collins syndrome and its associated genes, the better equipped you will be to understand and manage the condition. Knowledge empowers individuals and their families to seek appropriate care and support.

Inheritance

Treacher Collins syndrome (TCS) is a condition that is inherited in an autosomal dominant pattern. This means that individuals with one copy of the mutated gene (Tcof1 or Polr1d) associated with TCS have a 50% chance of passing the condition on to each of their children.

There are two main genes that have been identified as causing Treacher Collins syndrome: TCOF1 (also known as Treacle) and POLR1D. Mutations in the TCOF1 gene are responsible for approximately 80-90% of cases, while mutations in the POLR1D gene account for a small percentage of cases.

The TCOF1 gene provides instructions for making a protein called treacle, which is involved in the development of bones and other tissues in the face. Mutations in this gene result in a reduction in the amount of functional treacle protein, leading to the characteristic facial features and other problems associated with TCS.

The POLR1D gene is involved in the production of another protein in the same pathway as TCOF1. Mutations in this gene can also cause Treacher Collins syndrome, but they are less common than mutations in TCOF1.

Treacher Collins syndrome affects the bones and tissues of the face, leading to characteristic facial features such as underdeveloped cheekbones, a small jaw, and downward-slanting eyes. Individuals with TCS may also have hearing loss, cleft palate, and other problems with the structure and function of the head and face.

Research on the inheritance and genetics of Treacher Collins syndrome is ongoing. Many scientific studies have been conducted to better understand the condition, and additional genes and genetic factors associated with TCS may be identified in the future.

ClinicalTrials.gov and PubMed are valuable resources for finding more information about Treacher Collins syndrome, including references to scientific articles and ongoing research studies. There are also advocacy and support organizations, such as the Treacher Collins Syndrome Foundation, that provide resources and support for individuals and families affected by this condition.

Other Names for This Condition

Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis, is a rare genetic condition that affects the development of bones and tissues in the face.

There are several other names for this condition:

  • Franceschetti-Zwahlen-Klein syndrome
  • Mandibulofacial dysostosis, Treacher Collins type
  • TCOF1-related disorders
  • TCS1

The condition is caused by mutations in the TCOF1 gene. This gene provides instructions for making a protein called treacle, which is involved in the development of bones and other tissues in the face. Mutations in the TCOF1 gene can disrupt the normal development of these tissues, leading to the characteristic features of Treacher Collins syndrome.

Treacher Collins syndrome is inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene to develop the condition. It is estimated that mutations in the TCOF1 gene account for about 60 to 87 percent of all cases of Treacher Collins syndrome.

Some other genetic and environmental factors may also contribute to the development of Treacher Collins syndrome, but further research is needed to fully understand these causes.

Patients with Treacher Collins syndrome often have a cleft palate, hearing problems, and other structural abnormalities in the face. The severity of the condition can vary widely between individuals.

For more information about Treacher Collins syndrome, you can refer to the following resources:

  • The Treacher Collins Syndrome Foundation: provides support, advocacy, and information about the condition
  • The National Center for Advancing Translational Sciences: offers a free copy of the Treacher Collins Syndrome research catalog
  • OMIM (Online Mendelian Inheritance in Man): a catalog of human genes and genetic disorders
  • PubMed: a database of scientific articles on Treacher Collins syndrome and related diseases
  • ClinicalTrials.gov: a database of ongoing and completed clinical studies on Treacher Collins syndrome

Additional Information Resources

For more information about Treacher Collins syndrome and related conditions, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM) – A comprehensive database of human genes and genetic disorders. OMIM provides detailed information about the genes associated with Treacher Collins syndrome and related conditions. Visit OMIM at https://omim.org.
  • PubMed – A database of scientific articles and research studies. PubMed contains a wealth of information about Treacher Collins syndrome, including studies on its causes, inheritance patterns, and treatment options. Access PubMed at https://pubmed.ncbi.nlm.nih.gov.
  • ClinicalTrials.gov – A database of clinical trials investigating various diseases and conditions. ClinicalTrials.gov provides information about ongoing and completed trials related to Treacher Collins syndrome. Learn more at https://www.clinicaltrials.gov.
  • American Society of Human Genetics (ASHG) – A professional organization dedicated to advancing human genetics research. ASHG offers resources for patients and families affected by genetic conditions, including informational articles and patient support. Visit ASHG at https://www.ashg.org.
  • Treacher Collins Family Support Center – A nonprofit organization providing support and resources for individuals and families affected by Treacher Collins syndrome. The center offers free educational materials, advocacy services, and information on local support groups. Learn more at https://www.treacher-collins.org.

These resources can provide more information about Treacher Collins syndrome, its causes, treatment options, and related genetic disorders. They can also connect you with support networks and research studies that may be beneficial for you or your loved ones.

Note: The scientific names for Treacher Collins syndrome include Treacher Collins-Franceschetti syndrome, mandibulofacial dysostosis, and zygoauromandibular dysplasia.

Genetic Testing Information

Genetic testing can provide more information about the cause of Treacher Collins syndrome (TCS), a rare genetic condition.

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In most cases, TCS is caused by mutations in the TCOF1 gene, which provides instructions for making a protein called treacle. This protein is important for the development of structures in the face, including the bones and tissues. Mutations in other genes, such as POLR1D, have also been associated with TCS.

Genetic testing for TCS is available and can be obtained from clinical laboratories. It can help confirm a diagnosis, identify the specific gene mutation, and provide information about the inheritance pattern. Testing for the TCOF1 gene mutation may be offered for free as part of research studies or clinical trials. Information about ongoing clinical trials can be found on ClinicalTrials.gov.

Treacher Collins syndrome is inherited in an autosomal dominant pattern, which means one copy of the mutated gene is sufficient to cause the condition. However, some cases may occur sporadically, without a family history of the syndrome.

Genetic testing can also be helpful for individuals with TCS who are considering having children, as it can provide information about the chances of passing the condition to future generations. It can also be used to identify carriers of the gene mutation who may not show any symptoms of the syndrome.

In addition to genetic testing, there are other resources available for individuals and families affected by TCS. Advocacy and support groups can provide information and connect individuals with others who have the syndrome. Scientific articles and publications, such as those found on PubMed or OMIM, can provide more in-depth information about the condition and ongoing research.

It is important to note that genetic testing alone cannot provide a complete picture of an individual’s health or predict the severity of the condition. The signs and symptoms of TCS can vary widely between individuals, even within the same family.

Genetic testing for Treacher Collins syndrome can be a valuable tool for understanding the condition and providing guidance for treatment and support. It is recommended to consult with a healthcare professional or a genetics specialist for more information and to discuss the options and limitations of genetic testing.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information on genetic and rare diseases, including Treacher Collins syndrome. GARD offers a variety of resources to support patients and their families, as well as the scientific community.

Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis, is a rare genetic condition that affects the development of facial bones and tissues. It is caused by mutations in the TCOF1, POLR1C, or POLR1D genes. TCS is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50 percent chance of passing the condition on to their children.

Individuals with Treacher Collins syndrome often have distinctive facial features, including downward-slanting eyes, underdeveloped cheekbones, and a small jaw and chin. These facial abnormalities can lead to a variety of problems, including hearing loss and difficulty with speech and feeding. The severity of the condition can vary widely among affected individuals.

GARD provides a range of information on Treacher Collins syndrome, including articles on the causes, symptoms, and associated health problems. The website also offers additional resources, such as links to clinical trials on ClinicalTrials.gov, references to scientific studies on PubMed, and a catalog of advocacy organizations and support groups.

One of the genes associated with Treacher Collins syndrome is TCOF1, which codes for a protein called treacle. Mutations in the TCOF1 gene can disrupt the normal development of bones and tissues in the face, leading to the characteristic facial features seen in individuals with TCS. The TCOF1 gene is located on chromosome 5q32-q33.1.

Testing for Treacher Collins syndrome can be done through genetic testing, which can identify mutations in the TCOF1, POLR1C, or POLR1D genes. The condition can also be diagnosed based on clinical features and physical examination.

There is currently no cure for Treacher Collins syndrome, but treatment options are available to manage the symptoms and associated health problems. These may include hearing aids or cochlear implants for hearing loss, speech therapy to improve speech and language skills, and surgical interventions to correct cleft palate or other craniofacial abnormalities.

Research continues to further understand the genetic and molecular mechanisms underlying Treacher Collins syndrome. Studies are ongoing to identify other genes that may be involved in the development of the condition and to explore potential targeted therapies. The GARD website provides up-to-date information on the latest research findings in the field.

In summary, the Genetic and Rare Diseases Information Center (GARD) offers a wealth of information on Treacher Collins syndrome and other rare genetic diseases. The center serves as a valuable resource for patients, families, and healthcare providers to learn more about the condition, access support services, and stay informed about the latest scientific advancements in the field.

Patient Support and Advocacy Resources

Patients and families affected by Treacher Collins syndrome (TCS) can benefit from a variety of resources and support networks. These organizations offer information, assistance, and advocacy for individuals living with this condition and their loved ones.

  • The Treacher Collins Family Support Group: A community-driven organization providing support, resources, and educational materials for individuals and families affected by TCS. Their website offers information about the condition, treatment options, and research advancements.
  • The Patient Advocate Foundation: A national nonprofit organization that provides free case management assistance, resource referrals, and financial aid to patients with chronic, life-threatening, or debilitating illnesses, including TCS. They can help patients navigate insurance, access clinical trials, and explore treatment options.
  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization dedicated to individuals with rare diseases. Their website has information on TCS, including symptoms, causes, and available resources.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides up-to-date, reliable information on rare genetic disorders, including TCS. They can help connect patients with clinical trials, genetic testing facilities, and specialized medical centers.

Additionally, patients and their families may find it helpful to consult scientific articles and publications related to TCS. Some recommended resources include:

  • PubMed: A database of scientific articles and studies on various medical topics. Searching for “Treacher Collins syndrome” or related keywords can provide more information about the condition, its causes, and treatment options.
  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders. OMIM provides detailed information on the genes associated with TCS, such as TCOF1 (treacle) and POLR1D.
  • ClinicalTrials.gov: A registry of clinical studies and trials conducted worldwide. Patients and their families can search for ongoing or upcoming trials related to TCS to explore potential treatment options or contribute to research efforts.

By utilizing these resources, patients and families can stay informed about the latest developments in TCS research, connect with other individuals affected by the condition, and access the support they need in managing the challenges associated with TCS.

Research Studies from ClinicalTrialsgov

Treacher Collins syndrome (TCS) is a rare genetic condition that affects the development of the bones and tissues in the face. It is caused by mutations in the TCOF1, POLR1D, or POLR1C genes. TCS is also known as Treacher Collins-Franceschetti syndrome and mandibulofacial dysostosis.

Research studies on Treacher Collins syndrome have been conducted to learn more about the causes, inheritance patterns, associated diseases, and treatment options for this condition. ClinicalTrialsgov, a catalog of clinical studies, keeps a comprehensive list of ongoing and completed studies related to TCS.

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These research studies aim to identify the specific genes and genetic mechanisms that cause Treacher Collins syndrome, as well as to understand the frequency and severity of associated problems, such as hearing loss and cleft palate. They also explore different treatment options and testing methods for individuals with TCS.

One of the main genes associated with Treacher Collins syndrome is TCOF1, which provides instructions for making a protein called treacle. Mutations in this gene are responsible for approximately 90 percent of TCS cases. The POLR1D and POLR1C genes are also linked to TCS, but they are less commonly involved.

Additional resources and support for individuals with Treacher Collins syndrome and their families can be found through advocacy organizations like the Treacher Collins Foundation. These organizations provide information, support, and resources for learning about the condition, finding medical specialists, and connecting with other families affected by TCS.

References on rare diseases and scientific articles related to Treacher Collins syndrome can be found on websites like OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide a wealth of information on the genetics, inheritance patterns, and clinical features of this condition.

Research studies from ClinicalTrialsgov offer valuable insights into Treacher Collins syndrome and contribute to the development of effective treatments and support strategies for patients with this rare genetic disorder.

Catalog of Genes and Diseases from OMIM

The Treacher Collins syndrome (TCS) is a rare genetic condition that affects the development of facial bones and tissues. It is also known as mandibulofacial dysostosis, Franceschetti-Zwahlen-Klein syndrome, or Treacher Collins-Franceschetti syndrome. TCS is caused by mutations in the TCOF1 gene, which is involved in the production of a protein called treacle. Mutations in other genes such as POLR1D have also been associated with TCS.

People with Treacher Collins syndrome may have a range of physical features, including underdeveloped cheekbones, small jaw, cleft palate, and malformed ears. These facial abnormalities can cause difficulties with breathing, eating, and hearing. The severity of the condition can vary, with some individuals experiencing mild symptoms and others having more severe facial deformities.

The TCOF1 gene follows an autosomal dominant inheritance pattern, which means that an affected individual has a 50 percent chance of passing on the condition to each of their children. However, TCS can also occur spontaneously in people with no family history of the syndrome.

Diagnosis of Treacher Collins syndrome is usually based on the characteristic facial features and clinical findings. Genetic testing can be used to confirm the diagnosis and identify the specific TCOF1 or other gene mutations. Genetic counseling and testing can also be offered to families with a history of TCS to provide information about the risk of having an affected child.

Currently, there is no cure for Treacher Collins syndrome. Treatment focuses on managing the symptoms and improving the quality of life for affected individuals. This may include surgeries to correct facial deformities, speech therapy, hearing aids or cochlear implants, and psychological support.

For more information about Treacher Collins syndrome, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog. This online resource provides a comprehensive collection of information on genes and diseases. OMIM is a valuable tool for clinicians, researchers, and patients alike to learn about the condition, associated genes, clinical trials, scientific articles, and additional resources related to Treacher Collins syndrome.

Scientific Articles on PubMed

Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis, is a rare genetic condition that affects the development of bones and other tissues in the face. It is caused by mutations in the TCOF1, POLR1D, or POLR1C genes.

This condition is inherited in an autosomal dominant manner, which means that a person with TCS has a 50 percent chance of passing the mutated gene on to each of their children. However, most cases of TCS are caused by new mutations in the TCOF1 gene and are not inherited from a parent.

People with Treacher Collins syndrome may have a variety of physical characteristics, including underdeveloped cheekbones, small jaws, downward-slanting eyes, and malformed or missing ears. These facial abnormalities can cause difficulties with breathing, hearing, and eating.

TCS is also associated with hearing loss, which affects approximately 90 percent of individuals with the condition. The severity of hearing loss can vary widely, ranging from mild to profound. Hearing loss in TCS is often caused by problems with the development of the ear structures, including the ear canal and middle ear.

Advocacy organizations and support groups can provide valuable resources and information about TCS for patients and their families. One such resource is the Treacher Collins Syndrome Foundation, which offers support and assistance to individuals with TCS and their families. The foundation provides free educational materials, support networks, and access to clinical trials for individuals with TCS.

Scientific research on Treacher Collins syndrome is ongoing, and a number of studies have been published on this condition. PubMed, a database of scientific articles, provides a comprehensive collection of research papers on TCS and related topics. Some of the articles available on PubMed include:

  • “Treacher Collins syndrome: genomic landscape and genotype-phenotype correlations” – This article discusses the genes associated with TCS and the genetic variations that cause the condition. It also explores the clinical features of TCS and the role of genetic testing in diagnosis.
  • “Treacher Collins syndrome: current insights” – This review article provides an overview of the current knowledge about TCS, including its genetic causes, clinical features, and treatment options. It also highlights ongoing research efforts and future directions for study.
  • “Treacle and Pol I: a newly identified nucleolar function for a nucleolar protein implicated in Treacher Collins syndrome” – This article focuses on the role of the TCOF1 gene and its encoded protein, treacle, in the development of TCS. It discusses the cellular and molecular mechanisms underlying the condition and highlights potential therapeutic targets.

These scientific articles and many others available on PubMed provide valuable information about Treacher Collins syndrome. They offer insights into the genetic causes of the condition, its clinical features, and potential treatment approaches. Researchers, healthcare professionals, and individuals affected by TCS can benefit from the knowledge gained through these studies.

For additional information and resources about Treacher Collins syndrome, interested individuals can visit the Online Mendelian Inheritance in Man (OMIM) and ClinicalTrials.gov websites. These resources provide comprehensive catalogs of information about rare genetic diseases and ongoing clinical trials related to TCS.

References

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