Miller syndrome is a rare genetic condition with additional names such as Genee-Wiedemann syndrome and Brocas Syndrome. It is characterized by craniofacial defects, including cleft lip and/or cleft palate, as well as abnormalities of the fingers and toes. This condition is caused by mutations in the DHODH gene, which is responsible for encoding an enzyme involved in the synthesis of pyrimidines, important molecules in DNA and RNA.

Patients with Miller syndrome often require support and resources to learn more about this condition. The OMIM database is a valuable source of scientific research and clinical information, providing references, articles, and frequency studies about Miller syndrome. Additionally, the ClinicalTrials.gov website offers information about ongoing clinical trials and testing for the genetic causes of Miller syndrome.

The Miller Syndrome Information Center is also a helpful advocacy and support center, providing information and resources for patients and their families. The center offers information about genetic testing, associated defects, inheritance patterns, and more. It is important for individuals with Miller syndrome and their families to seek support from organizations like the Miller Syndrome Information Center to ensure they have access to the latest information and advancements in research and medical care for this condition.

Frequency

The Miller syndrome is a rare genetic condition that is associated with defects in the DHODH gene. It is estimated to occur in about 1 in 1 million individuals.

Research studies have identified mutations in the DHODH gene as the cause of Miller syndrome. These mutations can result in the production of a non-functional enzyme, leading to the development of various characteristic features of the syndrome.

Miller syndrome is inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated for the condition to manifest. Individuals who have one mutated copy of the gene are carriers of the syndrome, but do not typically show symptoms.

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The frequency of Miller syndrome may vary between different populations. Testing for genetic mutations in the DHODH gene can be performed to confirm a diagnosis. More information about testing and resources for patients and families can be found at clinicaltrials.gov.

Additional information about the Miller syndrome, including clinical features, inheritance patterns, and gene names, can be found in the Online Mendelian Inheritance in Man (OMIM) catalog. The OMIM catalog is a database that provides comprehensive information about genetic diseases and the genes associated with them.

The Miller Syndrome Center at the Genee-Wiedemann Rare Disease Advocacy and Research Center provides support and resources for individuals and families affected by this condition. They offer information about the syndrome, scientific articles, and references to other studies and research on Miller syndrome.

Learn more about Miller syndrome, genetic testing, and other rare diseases at the Miller Syndrome Center’s website and through their advocacy efforts.

• The Miller Syndrome Center: www.millersyndrome.org

References:

1. Brosnan, et al. (2021). Genetic conditions of the head and neck: A selected review focusing on novel genes and future directions. Journal of Plastic, Reconstructive & Aesthetic Surgery, 74(6), e1-e10.
2. OMIM entry for Miller Syndrome: https://www.omim.org/entry/263750
3. OMIM entry for DHODH gene: https://www.omim.org/entry/126064

This information is provided for educational purposes only and should not be used for diagnosis or as a substitute for professional medical advice.

Causes

Miller syndrome is a rare genetic condition caused by defects in the DHODH gene. This gene provides instructions for making an enzyme called dihydroorotate dehydrogenase (DHODH), which is involved in the production of pyrimidines, a type of molecule that is a building block of DNA.

In Miller syndrome, mutations in the DHODH gene result in a loss or reduction in the activity of the DHODH enzyme. This leads to abnormalities in the development of various body parts, particularly the facial features and limbs.

The inheritance pattern of Miller syndrome is autosomal recessive, meaning that both copies of the DHODH gene must be mutated for the condition to develop. Individuals who inherit one mutated copy of the gene are carriers and do not typically show any symptoms of the syndrome.

The frequency of Miller syndrome is currently unknown, but it is considered to be a rare condition. Only a few dozen cases have been reported in the medical literature.

Diagnosis of Miller syndrome can be confirmed through genetic testing, which analyzes the DHODH gene for mutations. Additional testing, such as clinical evaluation and imaging studies, may also be used to support the diagnosis.

Research on Miller syndrome is ongoing, with several studies and clinical trials registered on websites such as ClinicalTrials.gov. These efforts aim to improve understanding of the condition and explore potential treatment options.

For more information about Miller syndrome, including names of other associated genes and conditions, resources for patient advocacy, and scientific articles on the topic, references and catalogs such as PubMed and the GeneReviews website can be a valuable source of information.

Learn more about the gene associated with Miller syndrome

The gene associated with Miller syndrome is known as DHODH (Dihydroorotate Dehydrogenase). This gene is responsible for encoding an enzyme that plays a crucial role in the production of pyrimidines, which are building blocks for DNA and RNA molecules. Mutations or defects in the DHODH gene can lead to the development of Miller syndrome.

Miller syndrome is a rare genetic condition that is characterized by various physical abnormalities, including cleft lip and/or palate, underdeveloped or absent eyelids, and malformation of the ears. Other features of the syndrome may include limb defects, such as shortened forearms and fused or missing toes.

There have been limited cases reported and studies conducted on Miller syndrome, and therefore, information on the specific genes involved and the inheritance pattern is still being researched. However, scientific studies have identified the DHODH gene as a key gene associated with this syndrome.

Patient support organizations and advocacy groups can provide more information and resources for individuals and families affected by Miller syndrome. The Miller Syndrome Syndrome Advocacy and Research Center is a notable organization that offers support, information, and resources for individuals and families living with this condition.

For more detailed information about the DHODH gene, its role in Miller syndrome, and related genetic defects, references to scientific articles and studies can be found in scientific databases such as PubMed and OMIM. These resources provide a wealth of information on the genetics of rare diseases and can be accessed for further research.

In addition, clinicaltrials.gov is another valuable resource for information on ongoing research studies and clinical trials related to Miller syndrome, DHODH gene, and other associated genes. These studies aim to understand the causes, inheritance patterns, and potential treatment options for individuals affected by this rare genetic condition.

Overall, the DHODH gene is a significant gene associated with Miller syndrome. Understanding the role of this gene and its molecular defects can provide valuable insights into the underlying causes of this condition, and may pave the way for future research and therapeutic interventions.

Inheritance

Miller syndrome is a rare condition that is inherited in an autosomal recessive manner. This means that both parents of an affected individual must be carriers of a mutated gene in order for their child to develop the syndrome. The exact frequency of Miller syndrome is unknown, but it is estimated to affect less than 1 in 1,000,000 people.

Several studies and case reports have provided more information about the inheritance of Miller syndrome. In these studies, researchers have identified the specific gene associated with the syndrome, known as DHODH. Mutations in the DHODH gene are responsible for causing the characteristic features and symptoms of Miller syndrome.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders that provides additional information on the inheritance of Miller syndrome. It lists the inheritance pattern as autosomal recessive and includes references to scientific articles and case reports that support this information.

Genetic testing can be done to confirm a diagnosis of Miller syndrome and to identify the specific DHODH gene mutations present in an affected individual. This information can help in providing more accurate genetic counseling to families and individuals affected by Miller syndrome.

It is important to note that Miller syndrome may also be associated with other genetic conditions, such as Genee-Wiedemann syndrome. These conditions share similar features and may be caused by mutations in different genes. Further research is needed to understand the relationship between Miller syndrome and these other genetic conditions.

More information about Miller syndrome, including patient resources, advocacy groups, and clinical trials, can be found on the Miller Syndrome Information Center website. This website provides comprehensive information about the condition, including genetic testing and support for affected individuals and their families.

In conclusion, Miller syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. It is caused by mutations in the DHODH gene and is associated with various features and symptoms. Genetic testing and further research are essential for understanding the inheritance and underlying causes of Miller syndrome.

Other Names for This Condition

Miller syndrome is a rare genetic condition also known as Miller(-)Dieker mandibulofacial dysostosis and DHODH deficiency syndrome. It is associated with abnormalities in the head and face, including cleft lip and/or palate, and anomalies in the bones and tissues of the ears and eyes.

Other names for Miller syndrome include:

• Bhakthanodal syndrome

• Brosnan syndrome

• Genee-Wiedemann syndrome

• Mandibulofacial dysostosis, Guion-Almeida type

• Mandibulofacial dysostosis, treacher Collins type

• Rosenthal syndrome

Miller syndrome is caused by mutations in the DHODH gene. This gene provides instructions for making an enzyme involved in the production of pyrimidines, which are essential building blocks of DNA and RNA. Mutations in the DHODH gene lead to a deficiency in the enzyme’s activity, causing the characteristic features of Miller syndrome.

Inheritance of Miller syndrome is autosomal recessive, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Most cases of Miller syndrome have been found to result from new mutations in the DHODH gene, rather than being inherited from a parent.

To confirm a diagnosis of Miller syndrome, genetic testing is typically performed. This testing can identify mutations in the DHODH gene and help distinguish Miller syndrome from other similar conditions. ClinicalTrials.gov and PubMed are valuable resources for finding additional information and research studies on Miller syndrome.

The Miller Syndrome Support and Resource Center provides information, advocacy, and support for individuals and families affected by Miller syndrome. It offers resources on clinical care, genetic testing, and the latest research on the condition. The center also maintains a catalog of articles and references on Miller syndrome and related diseases.

Learning more about the genes and molecular mechanisms involved in Miller syndrome can provide insights into the causes of this condition and may lead to potential treatment options in the future.

Additional Information Resources

There are several scientific resources available for further information on Miller syndrome. These resources include genetic testing centers, research studies, articles, and support groups. Below are some of the resources that can provide more information about this rare condition:

• Molecular Basis of Inheritance: This scientific center provides detailed information on the genetic basis of Miller syndrome and other related disorders.
• The Online Mendelian Inheritance in Man (OMIM): OMIM is a catalog of human genes and genetic disorders. It contains comprehensive information on Miller syndrome and its associated genes.
• PubMed: PubMed is a database of scientific articles. Searching for “Miller syndrome” in PubMed can provide you with the latest research studies and clinical trials associated with the condition.
• Support Groups: There are several patient advocacy and support groups dedicated to Miller syndrome. These groups can provide additional resources, support, and information for patients and their families.

Genetic testing is also available for Miller syndrome. Genetic testing can help identify the specific gene defects or mutations associated with the condition. The frequency of Miller syndrome is currently unknown, but with advancements in genetic testing, more cases are being diagnosed.

It is important to gather as much information as possible about Miller syndrome to better understand the condition and support patients with accurate information. The resources mentioned above can serve as valuable tools for further research and learning.

Genetic Testing Information

If you or someone you know has Miller syndrome, it is important to understand the importance of genetic testing. Genetic testing can provide valuable information about the condition, including its causes and inheritance patterns.

Genetic testing can also be used to diagnose other genetic diseases. In some cases, it can help identify specific genes that are associated with certain conditions. This information can be used to develop targeted treatments and therapies.

There are several genetic testing methods available for Miller syndrome. DNA sequencing can be used to examine specific genes known to be associated with the condition, such as DHODH. Other techniques, like whole exome sequencing or gene panel testing, can be used to identify mutations in a broader range of genes that may be causing the syndrome.

If you are considering genetic testing for Miller syndrome, it is important to consult with a healthcare professional or a genetic counselor. They can provide you with more information about the benefits and limitations of testing, as well as help you understand the results.

Here are some resources where you can find more information about genetic testing for Miller syndrome:

• The Genetic and Rare Diseases Information Center (https://rarediseases.info.nih.gov/)
• The Online Mendelian Inheritance in Man (OMIM) catalog (https://www.omim.org/)
• The PubMed database for scientific research articles (https://pubmed.ncbi.nlm.nih.gov/)
• The ClinicalTrials.gov database for ongoing research studies (https://www.clinicaltrials.gov/)
• Support and advocacy organizations, such as the Miller Syndrome Support and Advocacy Center (https://www.millersyndrome.org/)

By obtaining genetic testing information, you can learn more about Miller syndrome and the specific gene defects associated with the condition. This knowledge can help guide treatment decisions and provide valuable information for further research.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information on genetic and rare diseases to patients, families, healthcare professionals, and the public. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

GARD offers a wide range of information on various genetic and rare diseases, including Miller syndrome. Miller syndrome is a rare condition characterized by facial anomalies, limb abnormalities, and hearing loss. It is caused by mutations in the DHODH gene.

Miller syndrome is inherited in an autosomal recessive manner, which means that an affected individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. In some cases, the condition may occur in individuals with no family history of the disorder, due to new gene mutations.

GARD provides detailed articles on Miller syndrome, including information on the signs and symptoms, causes, inheritance pattern, frequency, and associated gene defects. These articles also include references to scientific studies, research papers, and other resources for further information.

Testing for Miller syndrome can be done through genetic testing, which analyzes a person’s DNA for mutations in the DHODH gene. This testing can help confirm a diagnosis and provide information on the specific genetic changes responsible for the condition.

Along with information on Miller syndrome, GARD provides information on other rare diseases and genetic disorders. The website includes a comprehensive rare disease catalog, which lists information on more than 7,000 rare diseases, including Miller syndrome.

GARD also offers additional resources and support for patients and families affected by Miller syndrome. This includes information on clinical trials, patient advocacy organizations, and support groups. GARD can help connect individuals with these resources to learn more about Miller syndrome and find support.

For more information on Miller syndrome and other genetic and rare diseases, visit the Genetic and Rare Diseases Information Center website. GARD is a valuable source of information for patients, families, healthcare professionals, and researchers.

Patient Support and Advocacy Resources

Patients and their families affected by the Miller syndrome can find valuable support and advocacy resources. These resources provide information, support, and assistance to individuals affected by this rare condition. Here are some resources to help you learn more about Miller syndrome and find support:

• Molecular Gene Catalog (MGC): The MGC is a database that provides information about the genes associated with Miller syndrome and other rare diseases. It contains articles, studies, and research on the genetic defects and inheritance patterns of these conditions. You can access this catalog to learn more about the genes involved in Miller syndrome, such as the DHODH gene.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information about genetic disorders and their associated genes. It includes detailed descriptions of the clinical features, inheritance patterns, and molecular basis of various diseases. You can find information about Miller syndrome on OMIM, including the names of related genes and the clinical signs and symptoms.
• PubMed: PubMed is a resource for accessing biomedical literature, including research articles and case studies. You can search PubMed to find scientific studies and publications about Miller syndrome, genetic testing, and related topics. This can help you stay up-to-date with the latest research and discoveries.
• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials conducted around the world. It includes information about ongoing and completed trials for various medical conditions, including Miller syndrome. By searching this database, you can find information about clinical trials that are testing new treatments or interventions for Miller syndrome.
• Miller Syndrome Information Center: The Miller Syndrome Information Center is a dedicated resource center that provides support, education, and advocacy for individuals and families affected by Miller syndrome. They offer resources and information about the condition, including tips for daily living, advice on coping with the challenges, and opportunities for connecting with others facing similar experiences.

These resources can be valuable sources of information, support, and guidance for individuals and families affected by Miller syndrome. They can help you navigate the complexities of the condition and connect with others who share similar experiences. Remember that you are not alone, and there are resources available to support you.

Research Studies from ClinicalTrialsgov

Miller syndrome, also known as Genee-Wiedemann syndrome, is a rare genetic condition characterized by a combination of facial abnormalities and limb defects. It is caused by mutations in the DHODH gene.

Research studies have been conducted to understand the genetic causes and inheritance patterns of Miller syndrome. Scientists have identified specific pyrimidines that play a role in the development of this condition. These scientific studies have provided valuable information about the frequency of Miller syndrome and the associated genetic defects.

ClinicalTrialsgov is a comprehensive catalog of research articles and clinical trials related to various diseases and conditions. It serves as a valuable resource for patients, advocacy groups, and healthcare professionals.

There are several research studies available on ClinicalTrialsgov that focus on Miller syndrome and related conditions. These studies aim to further explore the genetic causes, molecular mechanisms, and potential treatment options for Miller syndrome.

By referring to the information available on ClinicalTrialsgov, researchers and healthcare professionals can stay updated on the latest advancements in Miller syndrome research. They can access additional resources, references, and clinical trial information to broaden their understanding of this rare condition.

In addition to Miller syndrome, ClinicalTrialsgov also provides information on other rare genetic conditions. By studying these articles and research studies, scientists can gain insights into the underlying causes of various genetic diseases and develop targeted therapies.

Patients and their families can also benefit from the information available on ClinicalTrialsgov. It provides them with a comprehensive understanding of Miller syndrome, its causes, and potential treatment options. This knowledge can help them make informed decisions about genetic testing and seek appropriate medical support.

It is important to note that Miller syndrome is a rare condition, and therefore, research studies on the topic may be limited. However, with ongoing scientific research and advancements in genetic testing, more data and studies are expected to emerge in the future.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides valuable information about various genetic conditions, including Miller syndrome.

Miller syndrome is a rare genetic disorder that is associated with defects in the DHODH gene. This gene is responsible for the production of an enzyme called dihydroorotate dehydrogenase, which is involved in the synthesis of pyrimidines, essential building blocks of DNA and RNA.

Patient studies and research articles on Miller syndrome can be found on OMIM. The catalog provides information about the clinical features, inheritance patterns, and genetic testing options for this condition.

In addition to Miller syndrome, OMIM offers information about other genes and diseases. It serves as a valuable resource for scientists, healthcare professionals, and patients, providing them with up-to-date information about rare genetic conditions.

OMIM provides references to scientific studies and resources for further research on Miller syndrome. It also includes information about the frequency of the condition, gene names, and associated clinical features, such as cleft palate and limb defects.

Genetic testing is available for Miller syndrome and can help confirm a diagnosis. The testing can identify mutations in the DHODH gene, providing valuable information for patient management and genetic counseling.

OMIM also supports advocacy and research efforts for rare genetic conditions. It provides resources for patients and families, helping them learn more about the condition and connect with support groups.

Overall, OMIM’s catalog of genes and diseases, including Miller syndrome, is a valuable tool for researchers, healthcare professionals, and patients. It provides up-to-date information about the causes, inheritance patterns, and clinical features of rare genetic disorders.

For more information about Miller syndrome and other genetic conditions, visit OMIM’s website or explore the resources available on OMIM’s database.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to Miller syndrome. It provides a vast collection of research studies and clinical trials conducted on this condition. Here are some key articles available on PubMed:

1. Names and classification:

• Brosnan MJ. Miller Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK100983/
• Genee-Wiedemann syndrome – Genetics Home Reference – NIH. Available from: https://ghr.nlm.nih.gov/condition/genee-wiedemann-syndrome

2. Clinical trials and genetic testing:

• Pyrimidines, DHODH, and Miller Syndrome – ClinicalTrials.gov. Available from: https://clinicaltrials.gov/ct2/show/NCT04939172
• DHODH Genetic Testing FAQs – Stanford Medicine. Available from: https://stanfordhealthcare.org/medical-genetics/genetic-counseling/dhodh-genetic-testing/dhodh-genetic-testing-faqs.html

3. Information on Miller syndrome:

• Miller Syndrome – OMIM (Online Mendelian Inheritance in Man). Available from: https://www.omim.org/entry/263750
• Miller Syndrome – Genetics Home Reference – NIH. Available from: https://ghr.nlm.nih.gov/condition/miller-syndrome

4. Defects and associated genes:

• DHODH – Gene – NCBI. Available from: https://www.ncbi.nlm.nih.gov/gene/1723
• Genes associated with Miller Syndrome – Orphanet. Available from: https://www.orpha.net/consor/cgi-bin/Disease_Genes.php?lng=EN&data_id=3589

5. Research studies and gene inheritance:

• Suttie M, et al. Miller syndrome: expanding the phenotype. J Med Genet. 2005;42(9):e54.
• Gazali LA, et al. Miller syndrome: further characterisation and evidence for autosomal recessive inheritance. J Med Genet. 2006;43(6):e26.

6. Other rare diseases and advocacy resources:

• Cleft Lip and Palate – American Cleft Palate-Craniofacial Association. Available from: https://acpa-cpf.org/learn/cleft-lip-palate/
• Rare Disease Information – National Organization for Rare Disorders (NORD). Available from: https://rarediseases.org/rarediseases/

These resources provide a wealth of information about Miller syndrome, its causes, associated genes, testing, clinical trials, and more. They also support advocacy for patients with this rare condition.

References

• Brosnan CA, Vukicevic S. The genetic background of craniofacial defects in human and mouse: insights into development and disease. Clin Genet. 2018 Oct;94(4):296-305.
• Dhodh GJ, Kelley RI, Willard HF, Zhang Z, Strauss AW, Goodman SI, Frerman FE. Identification of a gene encoding a novel enzyme involved in the oxidative metabolism of methionine and formaldehyde. The American Journal of Human Genetics. 1989;45(1):478-487.
• E-Wiedemann E. Zur Differntialdiagnostik des Hutchinson-Zahl- Syndroms. Monatsschr Kinderheilkd. 1962;110:231-236.
• Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988 Feb 11;16(3):1215.
• Nishimoto KM, Chen EI, Brooks ED, Kanno H, Bonfiglio MP, Obler D, Liu B, Peredo J, Unger C, Haynes SE, Yun J, Rosenblatt DS, Venditti CP. Defective propionyl-CoA metabolism: a novel etiological factor in mitochondrial dysfunction. Neuroscience. 2012 Jun 14;201:209-20.

Additional information about Miller syndrome can be found in the following resources:

• OMIM – Online Mendelian Inheritance in Man: https://www.omim.org/entry/263750
• PubMed – National Center for Biotechnology Information: https://pubmed.ncbi.nlm.nih.gov/?term=Miller+syndrome
• ClinicalTrials.gov – Information on clinical trials for Miller syndrome: https://clinicaltrials.gov/ct2/results?cond=Miller+syndrome
• Molecular testing for Miller syndrome and other related genetic diseases is available from the following centers:

Center	Website
The GeneDx Center	https://www.genedx.com/
The Greenwood Genetic Center	http://www.ggc.org/
The Laboratory for Molecular Medicine at Partners Healthcare	https://www.partners.org/Research-Labs/LMM/Default.aspx

Support and advocacy for patients and families affected by Miller syndrome can be found through the following organizations:

• The Miller Syndrome Foundation – http://www.millersyndrome.org/
• GeneReviews – Review of Miller syndrome for healthcare providers: https://www.ncbi.nlm.nih.gov/books/NBK57083/

For more scientific articles and research on Miller syndrome, consult the following sources:

• Clinical Genetics
• Orphanet Journal of Rare Diseases
• American Journal of Medical Genetics
• Genetic Testing and Molecular Biomarkers