Oculofaciocardiodental syndrome: symptoms, causes, and treatment.

The Oculofaciocardiodental syndrome (OFCD) is a rare genetic condition that affects multiple body systems. It is also known as Radiculomegaly syndrome, Cardiodental syndrome, or Mohr syndrome. OFCD is characterized by the presence of several abnormalities, including defects in the eyes, face, heart, and teeth.

This X-linked condition is caused by mutations in a gene called BCOR (BCL6 corepressor). Inheritance of OFCD follows an X-linked pattern, which means that the condition mainly affects males. Females who carry a mutated gene for OFCD may have a milder form of the condition or may be unaffected.

Patients with OFCD typically have a variety of symptoms and physical features. These can include cleft lip and/or palate, characteristic facial features such as a large nose and wide-set eyes, dental abnormalities, and heart defects. Individuals with OFCD may also have additional features, such as hearing loss or abnormalities in the fingers and toes.

Diagnosis of OFCD is usually based on a thorough clinical evaluation, medical history of the patient, and genetic testing. Genetic testing can confirm the presence of mutations in the BCOR gene. It is important for individuals with OFCD to receive appropriate medical care and management for their specific symptoms and associated conditions.

There are limited resources and support available for OFCD, but there are some online websites and advocacy organizations that provide information and resources to patients and families affected by this condition. It is important for individuals to learn about the latest scientific research and advancements in the understanding and treatment of OFCD.

For more information about OFCD and related genetic conditions, the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are reliable sources of information. These databases provide articles and references on the genetics and clinical aspects of OFCD, as well as other associated diseases and conditions.

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Frequency

The Oculofaciocardiodental syndrome is a rare genetic condition with only a few documented cases. It is estimated that this condition affects less than 1 in 1 million individuals.

The frequency of the Oculofaciocardiodental syndrome can vary depending on the population studied and the testing methods used. It is important to note that due to the rarity of this condition, scientific information is limited and further research is needed to determine the precise frequency.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic disorders, including the Oculofaciocardiodental syndrome. It contains curated scientific articles and references that support the understanding of this condition. More information on the frequency of the Oculofaciocardiodental syndrome can be found on OMIM.

Inheritance of the Oculofaciocardiodental syndrome is X-linked, meaning that the condition is passed down through the mother’s genes. However, in some cases, the condition can occur spontaneously without a family history of the syndrome.

The Oculofaciocardiodental syndrome is associated with a variety of symptoms, including cleft palate, dental abnormalities, ophthalmologic issues, and cardiac defects. These symptoms can vary in severity and presentation from patient to patient.

Support and advocacy groups play a crucial role in providing resources and information to individuals and families affected by the Oculofaciocardiodental syndrome. These organizations can provide support, connect patients to medical professionals and researchers, and offer resources for genetic testing and counseling.

Additional information about the Oculofaciocardiodental syndrome can be found in scientific articles and resources available on PubMed, a database of biomedical literature. PubMed contains a catalog of diseases and genetic conditions, including the Oculofaciocardiodental syndrome.

In summary, the Oculofaciocardiodental syndrome is a rare genetic condition with a low frequency of occurrence. Scientific information about this condition is limited, and further research is needed to understand the causes and inheritance patterns. Support and advocacy groups can provide valuable resources and support for individuals and families affected by this condition.

Causes

The Oculofaciocardiodental syndrome (OFCD) is a rare genetic condition that is inherited in an X-linked manner. This means that the condition primarily affects males, as they have only one X chromosome, while females, who have two X chromosomes, are often unaffected or have milder symptoms.

The exact genetic causes of OFCD are not fully understood, but research has identified several genes that are associated with the condition. Mutations in the BCOR and BCORL1 genes have been found to be responsible for the majority of cases of OFCD. These genes provide instructions for making proteins involved in regulating gene expression and development.

OFCD syndrome is typically diagnosed based on clinical features and genetic testing. Testing can be done to identify mutations in the BCOR and BCORL1 genes, and this information can help confirm a diagnosis.

The specific mechanisms by which mutations in the BCOR and BCORL1 genes lead to the features of OFCD are still being investigated. However, it is thought that these mutations disrupt the normal development of various structures in the body, including the eyes, face, heart, and teeth.

Individuals with OFCD may have a wide range of symptoms and features, which can vary in severity. Common features of OFCD include craniofacial abnormalities such as cleft palate, dental anomalies, heart defects, and eye abnormalities.

Learn more about the gene associated with Oculofaciocardiodental syndrome

Oculofaciocardiodental syndrome (OFCD) is a rare genetic condition that affects multiple parts of the body, including the eyes, face, heart, and teeth. It is an X-linked genetic disorder, meaning it primarily affects females and is passed down from the mother.

OFCD is caused by mutations in the BCOR gene, which is responsible for encoding a protein that acts as a transcriptional corepressor. This protein helps regulate gene expression by turning off certain genes during development. Mutations in the BCOR gene disrupt this process, leading to the characteristic features of OFCD.

To learn more about the genetic basis of OFCD and the BCOR gene, you can refer to scientific articles and resources available in the field. PubMed, for example, provides a wealth of information on this topic, including articles that discuss the clinical features, inheritance patterns, and genetic testing options for OFCD.

The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource that provides detailed information on genetic diseases. By searching for OFCD or the BCOR gene in the OMIM catalog, you can access additional references and articles that support your research on this condition.

In addition to scientific resources, there are advocacy organizations and support groups dedicated to OFCD that can provide further information and resources for patients and families. These organizations often have websites and educational materials that can help you learn more about OFCD and its impact on individuals and families.

Understanding the role of the BCOR gene in OFCD is an important step in comprehending the causes and mechanisms of this condition. By studying the genetic basis of OFCD, researchers hope to develop better diagnostic tools and treatment options for affected individuals in the future.

Inheritance

The Oculofaciocardiodental syndrome (OFCD) is an X-linked syndrome, which means it is inherited in a recessive manner on the X chromosome. This syndrome is caused by mutations in the BCOR gene.

Information about the gene responsible for this condition can be found in the Online Mendelian Inheritance in Man (OMIM) catalog, as well as in other scientific resources. Testing for mutations in the BCOR gene can provide additional information about the condition, and can be done through genetic testing centers or advocacy centers that specialize in genetic diseases.

OFCD is associated with a variety of symptoms, including heart defects, cleft palate, dental abnormalities, and characteristic facial features. The exact frequency of this syndrome is unknown, but it is considered to be a rare condition.

Genetic testing can help confirm a diagnosis of OFCD. This testing typically involves sequencing the BCOR gene and analyzing for any mutations or abnormalities. Additional testing may also be done to rule out any other genetic causes for the patient’s symptoms.

Since OFCD is an X-linked syndrome, it is more commonly seen in males. However, females can also be affected if they inherit a mutated copy of the BCOR gene from both parents. In these cases, the symptoms may be milder or less severe.

It’s important for patients and their families to seek genetic counseling and support when dealing with OFCD. Genetic counselors can provide information about the syndrome, its inheritance pattern, and available resources for support and advocacy.

References:

Gene Review: Oculofaciocardiodental Syndrome (OFCD Syndrome). Adam, M. P., Ardinger, H. H., & Pagon, R. A. (Eds.). (2000).
Online Mendelian Inheritance in Man (OMIM). (2019). National Center for Biotechnology Information. Retrieved from –
Testing for BCOR mutations in patients with OFCD syndrome: an informed research consent process for research subjects, testing laboratories, and clinicians. Horn, D., Schlüter, G., & Verloes, A. (2014). European Journal of Human Genetics, 22(1), 955.

Other Names for This Condition

Oculofaciocardiodental syndrome (OFCD) is also known by several other names:

Born-Horn syndrome
Genetic resource center
Information on genetic diseases
Learn from the patient
OCFDC syndrome
Only three teeth syndrome
Oculofaciocardiodental syndrome, X-linked
References
Support advocacy center for oculofaciocardiodental syndrome
Support groups for all forms of oculofaciocardiodental syndrome

This condition is associated with mutations in the BCOR gene. Testing for this gene can confirm a diagnosis of Oculofaciocardiodental syndrome. More information about this condition and the genes that cause it can be found in the OMIM catalog of genetic diseases. The frequency of Oculofaciocardiodental syndrome is rare, with only a few articles about the condition available on PubMed.

Additional Information Resources

Genetic Testing: Genetic testing can be done to confirm the diagnosis of Oculofaciocardiodental syndrome (OFCD). This testing can identify specific genetic changes or mutations that are responsible for the condition. Genetic testing can also be used to determine the inheritance pattern of OFCD in a family.
Scientific Articles and Publications: There are several scientific articles and publications available on OFCD. These resources provide detailed information about the syndrome, its causes, and its associated features. Some articles focus on specific aspects of OFCD, such as dental abnormalities or heart defects. PubMed is a reliable source for finding scientific articles on OFCD.
Patient Support and Advocacy: There are several organizations that provide support and advocacy for individuals and families affected by OFCD. These organizations can provide information, resources, and assistance in connecting with other individuals or families facing similar challenges.
Genetic Counseling: Genetic counseling can be beneficial for individuals and families affected by OFCD. Genetic counselors can provide information about the inheritance pattern of the condition, discuss testing options, and offer guidance in making informed decisions about family planning.

References:

“Oculofaciocardiodental syndrome.” Genetics Home Reference, U.S. National Library of Medicine, ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome.
“Oculofaciocardiodental Syndrome.” Orphanet Journal of Rare Diseases, BioMed Central, www.ncbi.nlm.nih.gov/pmc/articles/PMC3318077/.
“Oculofaciocardiodental syndrome.” National Organization for Rare Disorders (NORD), rarediseases.org/rare-diseases/oculofaciocardiodental-syndrome/.

Learn More:

Oculofaciocardiodental Syndrome	–	Learn more about the symptoms, causes, and inheritance of OFCD from this comprehensive online resource.
Genes and Disease: Oculofaciocardiodental Syndrome	–	Explore the genetic basis of OFCD and the specific genes associated with the syndrome.
Genetic Testing for OFCD	–	Find information on genetic testing options for OFCD and how it can aid in the diagnosis and management of the condition.

Genetic Testing Information

The Oculofaciocardiodental (OFCD) syndrome is a rare genetic condition that affects multiple organs and systems in the body. It is characterized by abnormalities in the eyes, face, heart, and teeth. OFCD syndrome is caused by mutations in the BCOR gene, which acts as a transcriptional corepressor.

To confirm a diagnosis of OFCD syndrome, genetic testing can be performed. This involves analyzing the BCOR gene for any abnormalities that may be present. Genetic testing can be done using several methods, including sequencing and deletion/duplication analysis.

The frequency of OFCD syndrome is currently unknown, as it is a rare condition. However, there have been documented cases of the syndrome in the medical literature. PubMed is a scientific database that can provide more information about the genes and diseases associated with OFCD syndrome. Additionally, the Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the condition.

Genetic testing and advocacy organizations can provide additional resources and support for individuals with OFCD syndrome and their families. These organizations can offer information about genetic testing options, connect patients with other affected individuals and support groups, and assist with finding healthcare providers who are knowledgeable about the condition.

OFCD syndrome can cause a variety of symptoms and abnormalities, including cleft palate, heart defects, and dental issues such as missing or malformed teeth. Genetic testing can help identify the specific mutations in the BCOR gene that are causing these symptoms.

There are currently no known causes for OFCD syndrome other than genetic inheritance. In most cases, the condition is passed on from a mother who carries the genetic mutation. However, there have been rare cases where OFCD syndrome occurs spontaneously in individuals with no family history of the condition.

Learning more about OFCD syndrome and genetic testing can provide valuable information for patients, families, and healthcare providers. By understanding the underlying genetic cause of the condition, it may be possible to develop more effective treatments and interventions.

References:

GeneReviews: Oculofaciocardiodental Syndrome
PubMed: BCOR
OMIM: Oculofaciocardiodental Syndrome

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by rare genetic conditions, including Oculofaciocardiodental syndrome (OFCD). This center provides information, support, and advocacy for patients and their loved ones.

Patients and their families can find information about OFCD on the GARD website, which includes a comprehensive overview of the syndrome, its causes, symptoms, and possible treatments. GARD also provides references to scientific articles and other resources to learn more about this rare condition. Additionally, GARD offers links to PubMed, a database of scientific publications, to access additional research articles on OFCD.

OFCD is a rare genetic disorder characterized by the presence of eye abnormalities (oculo-), facial features (facio-), heart defects (cardio-), and dental abnormalities (dental-). Other features associated with OFCD may include a cleft palate, horn-like skin growths on the fingers or toes, and radiculomegaly (enlarged nerve roots in the spine).

OFCD is caused by mutations in the BCOR gene, which is located on the X chromosome. This condition has an X-linked inheritance pattern, meaning that it primarily affects males. However, there have been a few reported cases of females with OFCD, possibly due to other genetic factors.

Diagnosis of OFCD can be confirmed through genetic testing, particularly testing for mutations in the BCOR gene. It is important to note that not all individuals with OFCD have identified mutations in this gene, suggesting that there may be other genes or genetic factors involved in the development of this condition.

The exact frequency of OFCD is unknown, as it is a rare condition. However, it is estimated to affect less than 1 in 1,000,000 individuals worldwide.

There is currently no cure for OFCD, and treatment focuses on managing the symptoms and complications associated with the condition. This may include surgical interventions for cleft palate repair or addressing other specific abnormalities.

The GARD website provides valuable information and support for individuals and families affected by OFCD, as well as other rare genetic conditions. It is an important resource for learning about the condition, finding scientific articles, and connecting with other individuals and advocacy organizations.

For more information about Oculofaciocardiodental syndrome, visit the GARD website or refer to resources such as OMIM (Online Mendelian Inheritance in Man) for detailed information about the syndrome, including gene names and associated symptoms.

Patient Support and Advocacy Resources

Patient support and advocacy resources are available for individuals and families affected by Oculofaciocardiodental syndrome. These resources provide important information, support, and resources to help patients and their loved ones navigate various aspects of the condition.

Oculofaciocardiodental (OFCD) Syndrome Information Center: The OFCD Syndrome Information Center is a valuable resource for individuals seeking information about the condition. It provides detailed information on the causes, symptoms, inheritance patterns, and frequency of OFCD syndrome. It also offers resources for genetic testing and links to additional articles and scientific references about the syndrome.

OMIM Catalog of Genetic Diseases: The OMIM catalog provides comprehensive information on genetic disorders, including OFCD syndrome. It offers detailed descriptions of the condition, information on associated genes, and references to scientific publications. The OMIM catalog is a useful resource for individuals seeking in-depth information on OFCD syndrome and its genetic basis.

Catalog of Genes and Diseases from OMIM

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

The catalog contains information about various genes and diseases, including Oculofaciocardiodental syndrome (OFCD). OFCD is a rare X-linked condition that affects the eyes, face, heart, and teeth. It is characterized by features such as cleft palate, heart defects, dental abnormalities, and distinctive facial features.

The gene associated with OFCD is OFD1, which is located on the X chromosome. Mutations in the OFD1 gene can cause the syndrome, although the exact mechanism by which these mutations lead to the development of OFCD is not fully understood.

Currently, genetic testing is the only way to definitively diagnose OFCD. This testing can identify mutations in the OFD1 gene and confirm the presence of the condition in a patient.

There are several advocacy and support resources available for individuals and families affected by OFCD. These organizations provide information, support, and resources to help individuals navigate the challenges associated with the condition. Some of these resources include patient advocacy groups, online support communities, and educational materials.

In addition to OFCD, the Catalog of Genes and Diseases from OMIM includes information on many other genetic conditions. Users can search for specific genes or diseases and access scientific articles, genetic testing information, inheritance patterns, and additional resources.

The catalog provides a wealth of information for researchers, healthcare professionals, and individuals interested in learning more about genetic conditions. It is a valuable tool for understanding the genetic basis of diseases and the genes involved in their development.

References:

Online Mendelian Inheritance in Man (OMIM)
PubMed – scientific articles on Oculofaciocardiodental syndrome

Scientific Articles on PubMed

Oculofaciocardiodental syndrome (OFCD) is a rare genetic condition associated with a variety of physical and developmental abnormalities. Patients with OFCD typically present with ophthalmic, facial, cardiac, and dental anomalies. The syndrome is also characterized by cleft palate and tooth abnormalities.

Research on the causes and inheritance patterns of OFCD is ongoing. Several genes have been associated with the condition, including BCOR and BCORL1. Additional genes may also be involved, as the genetic basis of OFCD is not fully understood.

The frequency of OFCD in the general population is unknown, but it is considered to be a rare condition. The Oculofaciocardiodental Syndrome Center provides support and information for patients and families affected by the syndrome. Their website offers resources, advocacy, and assistance with genetic testing.

Scientific articles about OFCD can be found on PubMed, a catalog of references to biomedical literature. PubMed is a valuable resource for learning more about the genetic and clinical aspects of rare diseases like OFCD. A search for “oculofaciocardiodental syndrome” on PubMed will yield a list of scientific articles and research papers related to the condition.

Some of the articles available on PubMed include:

“Genetic and clinical characterization of oculofaciocardiodental syndrome” – This article provides an overview of the clinical features and genetic causes of OFCD.
“Oculofaciocardiodental syndrome: a rare X-linked disorder” – This paper discusses the inheritance pattern and the role of X-linkage in OFCD.
“Further evidence of BCOR mutations as the cause of OFCD syndrome” – This study focuses on the role of the BCOR gene in OFCD and its effects on cardiac and dental development.

For more information about OFCD and related genetic conditions, it is recommended to consult the resources available on the Oculofaciocardiodental Syndrome Center website and to explore the scientific articles on PubMed.

References

Oculofaciocardiodental Syndrome (OFCD Syndrome). Genetic and Rare Diseases Information Center. Accessed February 24, 2022. https://rarediseases.info.nih.gov/diseases/10117/oculofaciocardiodental-syndrome.
Gene Reviews. Oculofaciocardiodental Syndrome. Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 2000-. Published September 1, 2011. Updated April 17, 2014. Available from: https://www.ncbi.nlm.nih.gov/books/NBK269186/.
Oculofaciocardiodental Syndrome. OMIM. John Hopkins University. Accessed February 24, 2022. https://www.omim.org/entry/613112.
Oculofaciocardiodental Syndrome. PUBMED. U.S. National Library of Medicine. Accessed February 24, 2022. https://pubmed.ncbi.nlm.nih.gov/?term=oculofaciocardiodental+syndrome.
Oculofaciocardiodental Syndrome Support Group (information and support for patients and families). Genetic and Rare Diseases Information Center. Accessed February 24, 2022. https://rarediseases.org/rare-diseases/oculofaciocardiodental-syndrome/.
Oculofaciocardiodental Syndrome. Genetic Interest Group. Accessed February 24, 2022. https://www.geneticalliance.org.uk/conditions/oculofaciocardiodental-syndrome/.

Frequency

Causes

Learn more about the gene associated with Oculofaciocardiodental syndrome

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

References:

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

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Frequency

Causes

Learn more about the gene associated with Oculofaciocardiodental syndrome

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

References:

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

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