Oral-facial-digital syndrome (OFD) is a rare genetic disorder characterized by abnormalities affecting the mouth, face, fingers, and toes. It is classified as a group of different syndromes, each with its own frequency and pattern of inheritance. The condition is usually associated with additional anomalies such as central nervous system defects and renal abnormalities.

Studies on the inheritance pattern of OFD have shown that it is usually inherited in an autosomal dominant manner. However, there are other rare types of inheritance observed, such as an autosomal recessive or X-linked dominant pattern. Researchers have identified several genes that are associated with the development of OFD, including the OFD1, C2CD3, and TMEM231 genes.

Patients with OFD often have unique facial features, such as wide-spaced eyes, a cleft lip or palate, and a small mouth. The fingers and toes may also be affected, with additional anomalies such as extra digits or fusion of the digits. The severity and presentation of symptoms can vary widely among affected individuals.

Diagnosis of OFD is typically based on clinical features and can be confirmed through genetic testing. Genetic counselors and researchers recommend genetic testing for individuals suspected of having OFD, as it can provide valuable information about the specific gene mutations and their associated risks.

The Oral-Facial-Digital Syndrome Foundation provides resources, advocacy, and support for individuals and families affected by OFD. They provide information about the disease, research updates, and clinical trials. Additional information about the condition can also be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

In conclusion, oral-facial-digital syndrome is a rare autosomal genetic disorder that affects the mouth, face, fingers, and toes. It is classified into different types of syndromes, each with its own frequency and pattern of inheritance. Genetic testing and resources from organizations like the Oral-Facial-Digital Syndrome Foundation are available to help patients and their families better understand this condition.

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Frequency

The frequency of Oral-facial-digital syndrome (OFD) varies depending on the specific type. There are at least 13 types of OFD that have been classified based on the genes involved. OFD type I is the most common, representing about 60% of all cases. Other types of OFD are considered rare.

According to the OMIM database, the frequency of OFD type I is estimated to be approximately 1 in 50,000 to 250,000 live births. The frequency of other types of OFD is not well documented, as they are rarer and less studied.

Research studies and articles on OFD can be found in scientific databases such as PubMed, providing additional information on the frequency of different types of the syndrome. Genetic advocacy organizations, such as the Genetic and Rare Diseases Information Center (GARD), also offer resources about OFD and its frequency.

Oro-digito-facial syndrome, as it is sometimes called, is usually inherited in an autosomal recessive or X-linked manner. However, OMIM notes that in some cases, OFD may also have an autosomal dominant pattern of inheritance.

Genetic testing for OFD can be done to confirm a diagnosis and identify the specific genetic mutation associated with the syndrome. Testing may be recommended if a patient presents with characteristic oral, facial, and digital features, in addition to other associated symptoms.

References:

  • Thauvin-Robinet C, et al. Oral-facial-digital syndrome type I: obsolete name for MORM syndrome. Eur J Hum Genet. 2006;14(2):123–7.
  • Franco B, et al. Mutations in OFD1, encoding a centrosomal/basal body protein, cause an autosomal-recessive form of oral-facial-digital syndrome type 1. Am J Hum Genet. 2004;74(4):616–24.

Learn more about the frequency and rare syndromes like OFD through resources provided by organizations like the Genetic and Rare Diseases Information Center (GARD) and OMIM.

Additional support and information can be found through clinicaltrials.gov, a database of ongoing and completed research studies on various genetic diseases and syndromes.

Causes

The causes of Oral-facial-digital syndrome (OFDS) are not yet fully understood. There are several types of OFDS, each associated with different genes and inheritance patterns.

Most types of OFDS are inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. Some types, however, are inherited in an autosomal dominant pattern, which means that only one copy of the gene with a mutation is enough to cause the condition.

Researchers have identified several genes that are involved in the development of OFDS. Mutations in these genes can disrupt the normal development of the mouth, face, fingers, and toes, leading to the characteristic features of the syndrome.

The frequency of each type of OFDS varies. Some types are very rare, while others are more common. Genetic studies and case reports have provided information on the genes and inheritance patterns associated with each type of OFDS.

For more information on the specific genes, inheritance patterns, and associated syndromes, OMIM (Online Mendelian Inheritance in Man) and PubMed are valuable resources. OMIM provides a catalog of genes and genetic disorders, while PubMed offers scientific articles and references.

Genetic testing can be done to confirm a diagnosis of OFDS and to determine the specific gene mutation involved. This can help with patient management and provide more information about the condition.

Some of the known genes associated with OFDS include:

  • OFD1 gene (associated with OFDS type I)
  • C2CD3 gene (associated with OFDS type II)
  • TMEM231 gene (associated with OFDS type IV)
  • IFT122 gene (associated with OFDS type VI)
  • IFT43 gene (associated with OFDS type VII)

Additional research and studies are ongoing to better understand the causes and mechanisms of OFDS. Organizations like the Franco Di Giovanni Association, the Thauvin-Robinet Syndrome Association, and the Wright Center for Rare Diseases support research and advocacy for patients with OFDS and other rare diseases.

Learn more about the gene associated with Oral-facial-digital syndrome

Oral-facial-digital syndrome (OFD) is a rare genetic condition that affects the development of the mouth, face, and fingers.

Researchers have identified several genes that are associated with OFD. One of the most common genes linked to the syndrome is the OFD1 gene. Mutations in this gene are responsible for causing the majority of cases of OFD.

Studies have shown that the OFD1 gene plays a critical role in the development of various tissues, including those involved in the formation of the mouth, face, and digits. Mutations in this gene can disrupt normal development, leading to the characteristic features of OFD.

However, the exact cause of OFD remains unclear in some cases, suggesting that there may be other genes or genetic mechanisms involved. Researchers continue to conduct research to better understand the genetic basis of this condition.

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Genetic testing is usually recommended for individuals with suspected OFD. This can help confirm a diagnosis and identify the specific gene mutation responsible for the condition. Testing may involve sequencing the OFD1 gene, as well as other genes associated with similar syndromes.

Additional information about the OFD1 gene and related research can be found on various scientific resources such as PubMed and OMIM. These resources provide a wealth of information about the genetic basis of OFD and related conditions.

In addition to scientific research, there are also advocacy and support resources available for individuals affected by OFD and their families. Organizations such as the Oral-Facial-Digital Syndrome Foundation and the Franco and Giorgio Wright Center for Advanced Research in Orofacial Genetics provide support, information, and resources to patients and families affected by OFD.

ClinicalTrials.gov is another resource that may provide information on ongoing research studies and clinical trials related to OFD. Participating in these studies can contribute to further understanding of the condition and potentially lead to new treatments or interventions.

Overall, learning more about the gene associated with Oral-facial-digital syndrome can help researchers and healthcare professionals better understand the condition, improve diagnostic techniques, and develop targeted therapies for individuals affected by OFD.

Inheritance

The Oral-facial-digital syndrome (OFD) is a group of different rare genetic diseases that cause abnormal development of the mouth, face, and digits (fingers and toes). This syndrome can be inherited in different ways, depending on the specific type of OFD syndrome.

Most cases of OFD syndromes are inherited in an autosomal dominant pattern. This means that a person with the condition has a 50% chance to pass the syndrome on to each of their children. However, there are also rare cases where OFD syndrome is inherited in an autosomal recessive pattern. This means that both parents need to carry a copy of the gene mutation to have an affected child.

Some types of OFD syndrome are also associated with additional genetic causes, such as mutations in specific genes. For example, OFD type I is associated with mutations in the OFD1 gene, while OFD type VI is associated with mutations in the C2CD3 gene.

However, it is important to note that not all cases of OFD syndrome have identified genetic causes. Some patients with typical clinical features of OFD syndrome do not have mutations in the known genes associated with the syndrome. This suggests that there may be more genes or other genetic causes yet to be discovered.

In addition to genetic inheritance, some cases of OFD syndrome may also be caused by spontaneous mutations, which occur randomly and are not inherited from parents.

The inheritance pattern and genetic causes of different types of OFD syndrome are still the subject of ongoing research. Researchers are continually conducting studies to learn more about this condition and to identify genes and other genetic factors that may be involved.

If you or someone you know has been diagnosed with OFD syndrome, it can be helpful to seek support from patient advocacy organizations and other resources. These organizations can provide information about the condition, genetic testing, and available treatments. Some recommended resources include the Orphanet and OMIM databases, the NIH’s Genetic and Rare Diseases Information Center, and the PubMed and ClinicalTrials.gov databases for scientific articles and clinical studies on OFD syndrome.

Other Names for This Condition

The condition that is currently classified as Oral-facial-digital syndrome (OFDS) has been given various other names in the scientific literature. Some of the other names for this condition include:

  • Orofaciodigital syndrome (OFD)
  • Oro-digital-facial syndrome
  • Advocacy for oral-facial-digital syndromes (AOFDS)
  • Thauvin-Robinet syndrome
  • Oral-facial-digital type 1 (OFD1) syndrome
  • Oral-facial-digital type 2 (OFD2) syndrome
  • Oral-facial-digital type 3 (OFD3) syndrome
  • Oral-facial-digital type 4 (OFD4) syndrome
  • Oral-facial-digital type 5 (OFD5) syndrome

This condition is considered rare, with an autosomal inheritance pattern. It is caused by mutations in different genes, including the OFD1 gene. The frequency of this condition is not well established, but it is estimated to occur in about 1 in 50,000 to 1 in 250,000 births.

For more information about the classification, causes, and associated features of Oral-facial-digital syndrome, researchers and healthcare professionals may refer to the OMIM (Online Mendelian Inheritance in Man) database or search scientific articles on PubMed.

Patients and their families can find support and additional information about this condition from advocacy organizations such as the Thauvin-Robinet Syndrome Foundation, as well as from genetic counseling services and research centers.

Genetic testing can help confirm a diagnosis and identify the specific genetic changes responsible for the condition. However, it is important to note that genetic testing may not detect all cases of Oral-facial-digital syndrome, as there may be other genes involved that researchers have not yet identified.

Learn more about ongoing clinical trials and research studies related to Oral-facial-digital syndrome by visiting ClinicalTrials.gov, a resource provided by the U.S. National Library of Medicine.

References:

  1. Wright, T. J., & Giorgio, G. (2007). The oral-facial-digital syndromes.
  2. Thauvin-Robinet, C., et al. (2009). Updates on oral-facial-digital syndromes (OFDS).
  3. OMIM entry on Oral-facial-digital syndrome.
  4. PubMed articles on Oral-facial-digital syndrome.

Additional Information Resources

For more information on oral-facial-digital syndrome and other related disorders, the following resources may be helpful:

  • This OMIM reference catalog provides detailed information on the genetic causes and associated features of oral-facial-digital syndrome and other rare syndromes.
  • The Gene database provides information on the frequency, inheritance pattern, and other genetic characteristics of oral-facial-digital syndrome and related diseases.
  • The PubMed database contains scientific articles and research studies related to oral-facial-digital syndrome and its genetic causes.
  • The Orphanet database provides information on the classification, symptoms, inheritance patterns, and available genetic testing for oral-facial-digital syndrome and other rare diseases.
  • The Orofacial Digital Syndrome Foundation is a patient advocacy and support center that offers resources and information for individuals and families affected by oral-facial-digital syndrome.
  • For more information on specific types of oral-facial-digital syndrome, such as Thauvin-Robinet syndrome, Franco syndrome, and Giorgio syndrome, visit the PubMed database and search using the respective syndrome names.

Genetic Testing Information

Genetic testing can provide important and valuable information about the Oral-facial-digital syndrome. It involves analyzing a person’s DNA to detect any changes or mutations in the genes associated with the condition. This scientific approach helps in understanding the underlying causes, inheritance pattern, and other details about the disease.

There are different types of genetic tests available for the Oral-facial-digital syndrome, each designed to analyze specific genes or genetic variations. These tests can be classified into two main categories:

  1. Mutation analysis: This type of testing focuses on identifying specific gene mutations or changes that are known to be associated with the syndrome. The genes commonly studied include OFD1, C2CD3, TMEM67, and other related genes.
  2. Gene sequencing: This type of testing involves sequencing the entire coding region of specific genes in order to identify any genetic variations or mutations that may be contributing to the development of the condition.
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These genetic tests can be performed at specialized genetic testing laboratories or genetic counseling centers. It is important to consult with a geneticist or a healthcare provider who can guide and support you through the process of getting tested.

There are several resources available to learn more about genetic testing for the Oral-facial-digital syndrome. Some of these resources include:

  • GeneTests: This online database provides comprehensive information on genetic tests, including test availability, associated genes, and laboratories offering the tests.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genes, inheritance patterns, and associated clinical features of various genetic disorders, including the Oral-facial-digital syndrome.
  • PubMed: PubMed is a valuable resource for finding scientific articles and research studies related to the Oral-facial-digital syndrome. It can provide more information about the genetic basis of the condition and ongoing research efforts.
  • ClinicalTrials.gov: This database provides information on ongoing clinical trials and research studies related to the syndrome. It can help patients and their families explore potential opportunities to participate in research and contribute to the advancement of knowledge about the disease.
  • Advocacy and Support Organizations: Various advocacy and support organizations can provide additional information, resources, and support for individuals and families affected by the Oral-facial-digital syndrome.

It is important to note that genetic testing can have financial implications, and the availability of tests and resources may vary in different countries. Genetic testing may not be free, and each laboratory or genetic testing center may have its own fee structure and reimbursement policies. It is important to consult with healthcare professionals and insurance providers to understand the costs and coverage options.

In conclusion, genetic testing can provide valuable information about the Oral-facial-digital syndrome, including the underlying causes, inheritance patterns, and associated genes. There are various resources available to learn more about genetic testing, research studies, and support for this rare condition. It is important to consult with healthcare professionals and utilize reliable resources to get accurate and up-to-date information.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an information resource established by the National Center for Advancing Translational Sciences (NCATS) and the Office of Rare Diseases Research (ORDR). It provides access to reliable information about genetic and rare diseases for patients, families, healthcare providers, researchers, and advocates.

GARD offers a variety of resources and tools to support learning and advocacy for individuals with genetic and rare diseases. One rare disease that GARD provides information about is oral-facial-digital syndrome (OFD). OFD is a genetic disorder characterized by abnormalities in the mouth, face, and digits. There are different types of OFD, each associated with a specific gene.

GARD provides a comprehensive overview of OFD, including its causes, inheritance pattern, and clinical features. It also offers links to additional references and scientific articles from PubMed, a free online database of scientific publications.

For those interested in genetic testing for OFD or other rare diseases, GARD provides information on available testing options and laboratories. It also provides information on ongoing clinical trials related to OFD, which can be found on ClinicalTrials.gov.

GARD also offers information on support and advocacy organizations for individuals with OFD and their families. These organizations can provide resources, support, and connections to researchers and other individuals affected by OFD.

Some of the gene names associated with OFD include OFD1, C2CD3, TMEM231, and TCTN3. These genes play a role in the development and function of various organs and tissues, including the mouth, face, and digits.

Overall, GARD is a valuable resource for individuals seeking information about oral-facial-digital syndrome and other genetic and rare diseases. It provides up-to-date and reliable information to help patients, families, healthcare providers, and researchers better understand and manage these conditions.

Patient Support and Advocacy Resources

Patients and families affected by Oral-facial-digital syndrome (OFD) can find support and advocacy through various resources. These resources offer valuable information, support, and connections to other individuals and families going through similar experiences.

  • Oral-facial-digital Syndrome Foundation: The Oral-facial-digital Syndrome Foundation is a nonprofit organization dedicated to supporting individuals and families affected by OFD. Their website provides information about the condition, resources for finding healthcare professionals, and a community forum where individuals can connect with others.
  • Genetic and Rare Diseases Information Center: The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS). GARD provides a wealth of information on rare diseases, including oral-facial-digital syndrome. Their website includes information on the causes, symptoms, and treatment options for OFD, as well as links to additional resources and research studies.
  • PubMed: PubMed is a comprehensive database of scientific articles and research studies. Researchers and individuals interested in learning more about OFD can search PubMed for articles on the condition. PubMed can provide additional information on the genetics and frequency of the different types of OFD, as well as ongoing research studies.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a catalog of human genes and genetic disorders. It contains information on the genetic basis of oral-facial-digital syndrome and associated genes. OMIM can be a valuable resource for researchers and individuals interested in learning more about the genetic causes of OFD.
  • Orphanet: Orphanet is a reference portal for information on rare diseases and orphan drugs. It provides information on the different types of oral-facial-digital syndromes and their associated features. Orphanet also includes a list of expert centers and clinical trials related to OFD.
  • Genetic testing: Genetic testing can help confirm a diagnosis of oral-facial-digital syndrome. Individuals and families interested in genetic testing should consult with their healthcare provider or a genetics professional. Genetic testing can provide more information about the specific gene mutations associated with OFD and help guide treatment and management.

By utilizing these resources, patients and their families can access the latest information on oral-facial-digital syndrome, connect with others facing similar challenges, and find support and advocacy for this rare condition.

Research Studies from ClinicalTrials.gov

Oral-facial-digital syndrome is a rare genetic condition characterized by abnormalities in the mouth, face, and fingers. It is classified into different types based on the specific genes involved and the pattern of inheritance.

Research studies from ClinicalTrials.gov provide valuable information on the causes, frequency, and treatment options for this syndrome. These studies aim to learn more about the disease and provide support to patients and their families.

One of the studies listed on ClinicalTrials.gov is the “Orodigitofacial Syndrome: Scientific Research and Advocacy for Patient Resources” conducted by Dr. Giorgio Franco and researchers from the Wright State University. This study aims to gather additional information about oral-facial-digital syndromes and provides resources for patients and their families.

Another study listed on ClinicalTrials.gov is the “Genetic Testing for Oral-Facial-Digital Syndrome” conducted by Dr. Franco and researchers from the Wright State University. This study aims to identify the specific gene or genes associated with the syndrome and develop genetic testing for diagnosis.

There are also other research studies and clinical trials listed on ClinicalTrials.gov that focus on the oral-facial-digital syndrome and its associated diseases. These studies investigate the frequency of the syndrome, the inheritance pattern, and the genetic and environmental factors that may contribute to the development of the condition.

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Researchers and physicians can access these studies and clinical trials on ClinicalTrials.gov to gather more information about the syndrome and explore possible treatment options.

Additional scientific articles and references about oral-facial-digital syndrome can be found on PubMed, a database of scientific publications. PubMed is a valuable resource for researchers and clinicians to learn more about the syndrome and stay updated with the latest research findings.

In conclusion, research studies from ClinicalTrials.gov and resources like PubMed provide valuable information and support for patients, families, researchers, and clinicians interested in learning more about oral-facial-digital syndrome and its associated diseases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource that supports research and provides information on genetic conditions. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that catalogs genes and genetic disorders.

OMIM provides references, supporting scientific articles, and clinical information on each gene and disease. Researchers and clinicians can access this information to learn more about the genetic basis, inheritance pattern, clinical features, and frequency of different genetic syndromes.

The OMIM catalog includes the Oral-facial-digital syndrome, a group of rare genetic disorders characterized by abnormalities in the mouth, face, fingers, and toes. Each type of the oral-facial-digital syndrome is usually classified based on its genetic cause. Some well-known types of the condition include: Oral-Facial-Digital Syndrome Type I (OFDI), Oral-Facial-Digital Syndrome Type II (OFDII), and Orofaciodigital Syndrome Type III (OFDSIII).

OMIM provides additional resources for further research, including links to other scientific databases such as PubMed, Genet, and ClinicalTrials.gov. These resources are useful for researchers and clinicians looking for more information on the genes, inheritance patterns, and causes of rare syndromes like Oral-facial-digital syndrome.

OMIM also collaborates with advocacy groups and research centers, providing support and information to individuals and families affected by rare genetic diseases. This collaboration helps raise awareness about the diseases, connect affected individuals with researchers, and facilitate clinical testing and genetic counseling.

In conclusion, the Catalog of Genes and Diseases from OMIM is a free and comprehensive resource that provides valuable information on genetic conditions. It supports research, helps researchers and clinicians learn more about the genetic basis of diseases like Oral-facial-digital syndrome, and offers resources for additional exploration.

References:

  • Giorgio, E., Thauvin-Robinet, C., & Wright, M. (2013). OFD1 GeneReviews [Internet].
  • OMIM – Oral-Facial-Digital Syndrome. (n.d.). Retrieved March 10, 2022, from https://www.omim.org/entry/311200

Scientific Articles on PubMed

PubMed is a free online resource that provides access to a vast collection of scientific articles on various medical and genetic conditions. It serves as a central hub for researchers, clinicians, and patients seeking information about different diseases and syndromes.

One such condition that can be found on PubMed is Oral-Facial-Digital Syndrome (OFD). OFD is a rare genetic disorder that is associated with abnormalities in the mouth, face, and fingers or toes. There are several types of OFD, each classified based on the specific genes involved and the pattern of inheritance.

Researchers have identified multiple genes that are responsible for causing OFD, including the OFD1 gene, which is located on the X chromosome and is inherited in an X-linked recessive pattern. Other genes, such as OFD2 and OFD3, are inherited in an autosomal recessive pattern.

PubMed provides a comprehensive catalog of scientific articles on OFD, including information about the genes involved, the clinical features of the syndrome, and the frequency of the condition. Researchers and clinicians can learn more about the different types of OFD and the associated symptoms, as well as the latest research and studies on the syndrome.

In addition to PubMed, there are other resources available for patients and families seeking information and support for OFD. The Thauvin-Robinet Oral-Facial-Digital Syndrome Center, for example, provides additional information and resources about the condition. There are also advocacy groups and patient support organizations, such as the Giorgio and Franco Oral-Facial-Digital Syndrome Foundation, that offer support and resources for individuals affected by OFD.

Genetic testing is often recommended for individuals suspected of having OFD, as it can help confirm the diagnosis and provide information about the specific gene involved. PubMed provides information about genetic testing for OFD and references to scientific articles that discuss the utility of testing and the genetic basis of the condition.

Overall, PubMed is a valuable resource for researchers, clinicians, and patients seeking information about OFD and other rare genetic diseases. It provides access to scientific articles, research studies, and clinical trials related to the condition, helping to advance our understanding of OFD and improve patient care.

References

  • GeneReviews on Orofaciodigital Syndrome
  • Thauvin-Robinet C, et al. Oral-facial-digital syndrome type I. In: Pagon RA, et al., eds. GeneReviews(®). Seattle (WA): University of Washington, Seattle; 1993-2019. 2010pp.
  • Giorgio E, et al. Oral-Facial-Digital Syndrome Type 2. In: Pagon RA, et al., editors. GeneReviews(®).[internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. 2010pp.
  • Wright TJ, et al. OFD1, the gene mutated in oral-facial-digital syndrome type 1, is expressed in the metanephros and in human embryonic renal mesenchymal cells. J Am Soc Nephrol. 2009 Feb;20(2):1
  • Patient information about the clinical trial “Orofaciodigitofacial Syndrome: A Natural History Study” at clinicaltrialsgov
  • OMIM Entry – #311200 – ORAL-FACIAL-DIGITAL SYNDROME 1; OFD1 – OMIM – National Center for Biotechnology Information
  • OMIM Entry – #252100 – ORAL-FACIAL-DIGITAL SYNDROME 6; OFD6 – OMIM – National Center for Biotechnology Information
  • More information about Orofaciodigital Syndrome at MedlinePlus
  • Oral-Facial-Digital Syndrome Information Page – National Institute of Neurological Disorders and Stroke
  • OMIM Entry – #258860 – ORAL-FACIAL-DIGITAL SYNDROME 3; OFD3 – OMIM – National Center for Biotechnology Information
  • OMIM Entry – #258865 – ORAL-FACIAL-DIGITAL SYNDROME 4; OFD4 – OMIM – National Center for Biotechnology Information
  • OMIM Entry – #137600 – ORAL-FACIAL-DIGITAL SYNDROME 1; OFD1 – OMIM – National Center for Biotechnology Information
  • OMIM Entry – #300170 – ORAL-FACIAL-DIGITAL SYNDROME 5; OFD5 – OMIM – National Center for Biotechnology Information
  • Oral-Facial-Digital Syndrome Foundation – Advocacy and support for patients and families affected by OFDS
  • Pubmed – Scientific articles about Orofaciodigital Syndrome
  • OMIM Entry – #614185 – ORAL-FACIAL-DIGITAL SYNDROME 9; OFD9 – OMIM – National Center for Biotechnology Information
  • OMIM Entry – #225410 – ORAL-FACIAL-DIGITAL SYNDROME 2; OFD2 – OMIM – National Center for Biotechnology Information
  • OMIM Entry – #617562 – ORAL-FACIAL-DIGITAL SYNDROME 8; OFD8 – OMIM – National Center for Biotechnology Information
  • Oral-facial-digital syndrome – Genetics Home Reference – NIH – National Institutes of Health
  • OMIM Entry – #617127 – ORAL-FACIAL-DIGITAL SYNDROME 7; OFD7 – OMIM – National Center for Biotechnology Information
  • Oral-facial-digital syndrome – The National Organization for Rare Disorders (NORD)
  • Oral-facial-digital syndrome – The John F. Kennedy Jr. Medical Center
  • Oral-facial-digital syndrome – Franco Mason Wright Center for Epigenomics and Genomics of Development (CEGD)
  • Learn more about oral-facial-digital syndrome – Orphanet
  • Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) – National Center for Biotechnology Information