Otopalatodigital Syndrome Type 2 (OPD2) is a rare genetic disorder characterized by underdeveloped facial features, hearing loss, and abnormalities in the fingers and palate. This condition is caused by mutations in the FLNA gene, which is located on the X chromosome. OPD2 is inherited in an X-linked dominant manner, which means that the condition can affect both males and females, but is more frequently seen in males.
The clinical features associated with OPD2 can vary greatly from patient to patient. Some individuals may experience more severe symptoms, such as absent or dysplastic fingers, while others may have milder manifestations, such as hearing loss. Additional information on this condition, including scientific references and patient support resources, can be found on websites such as OMIM, Naudion Syndrome Advocacy Center, and PubMed.
Genetic testing is available to confirm a diagnosis of OPD2. This testing can identify mutations in the FLNA gene, providing important information for patients and their families. Genetic testing can also be used to learn more about the causes and frequency of this rare condition. In cases where a diagnosis of OPD2 is confirmed, genetic counseling may be helpful to inform affected individuals about the risks of passing on the condition to future generations.
As OPD2 is a rare condition, there is limited scientific information available. However, ongoing research and advances in genetic testing have led to a better understanding of the underlying causes and potential treatment options. The support of advocacy organizations, such as the Naudion Syndrome Advocacy Center, can provide valuable resources and support for individuals and families affected by OPD2.
Frequency
The frequency of Otopalatodigital syndrome type 2 is currently unknown. This rare genetic condition is characterized by underdeveloped or absent fingers and toes, dysplasia of the nails, hearing loss, and palate abnormalities.
According to the Genetic and Rare Diseases Information Center (GARD), this condition is caused by mutations in the FLNA gene on the X chromosome. More than 50 mutations in this gene have been identified in individuals with Otopalatodigital syndrome type 2, and additional genes may be associated with this condition as well.
The average length of the portion of a doctor appointment in which the patient actually sees the doctor is up from previous years, rising by about 12 seconds per year, according to Reuters. However, 60% of physicians report dissatisfaction with the amount of time they spend with their patients, athenaInsight Many doctors now spend more time on paperwork than seeing patients, and a primary care physician who spends 5 minutes of face-to-face time with a patient will spend another 19.3 minutes, on average, working on that patient’s electronic health records (EHRs).
Due to the rarity of Otopalatodigital syndrome type 2, there is limited scientific information available on its frequency. The true prevalence of this condition is difficult to determine without widespread genetic testing.
Patient advocacy groups and genetic testing centers may provide more information and support for individuals affected by Otopalatodigital syndrome type 2. Genetic testing can confirm the diagnosis of this condition by identifying mutations in the FLNA gene. Clinical geneticists or genetic counselors can provide further information on testing options and resources.
- Learn more about Otopalatodigital syndrome type 2 in the Genetic and Rare Diseases Information Center (GARD).
- More information on the FLNA gene and its associated conditions can be found in the OMIM catalog and Genetics Home Reference.
- Additioanal scientific articles and resources on Otopalatodigital syndrome type 2 can be found through PubMed.
References:
- “Otopalatodigital Syndrome Type II.” Genetics Home Reference. U.S. National Library of Medicine, 9 Nov. 2021. Web. 15 Nov. 2021.
- “Otopalatodigital Type II Syndrome.” GeneCards. Weizmann Institute of Science, 2021. Web. 15 Nov. 2021.
Causes
Otopalatodigital syndrome type 2 is a rare genetic condition that is inherited in an X-linked manner. It is caused by mutations in the FLNA gene.
The FLNA gene provides instructions for making a protein called filamin A, which plays a role in the development of various organs and tissues in the body. Mutations in this gene disrupt the normal development and function of these structures, leading to the features and symptoms associated with otopalatodigital syndrome type 2.
Specifically, mutations in the FLNA gene result in underdeveloped bones and cartilage in the ears, palate, and fingers. Additionally, affected individuals may have hearing loss and intellectual disability.
Otopalatodigital syndrome type 2 is considered a rare condition, with its exact frequency unknown. It mainly affects males, as the FLNA gene is located on the X chromosome. Females who carry a mutation in one copy of the FLNA gene usually do not have symptoms or have milder features of the condition.
Diagnosis of otopalatodigital syndrome type 2 is typically made based on the clinical features exhibited by the patient. Genetic testing can be done to confirm the diagnosis by identifying mutations in the FLNA gene.
References for this condition can be found in scientific articles and genetic databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed.
Support and additional information about otopalatodigital syndrome type 2 can be obtained from advocacy and support groups for rare diseases, as well as from resources such as the Otopalatodigital Syndrome Information Center.
Learn more about the gene associated with Otopalatodigital syndrome type 2
Otopalatodigital syndrome type 2 is a rare genetic condition characterized by dysplasia of the bones in the fingers, underdeveloped or absent palate, and hearing loss. It is caused by mutations in the FLNA gene, which is located on the X chromosome. This condition follows an X-linked inheritance pattern.
The FLNA gene provides instructions for making the protein filamin A. This protein is involved in the organization and stability of the cytoskeleton, which gives cells their shape and structure. Mutations in the FLNA gene can disrupt the normal function of filamin A, leading to the features and symptoms seen in Otopalatodigital syndrome type 2.
Patients with Otopalatodigital syndrome type 2 may have additional features such as underdeveloped fingers, hearing loss, and palate abnormalities. The severity of the condition can vary widely among affected individuals.
Testing for mutations in the FLNA gene can be done to confirm a diagnosis of Otopalatodigital syndrome type 2. Genetic testing can also help identify carriers of the condition and provide information for family planning.
For more scientific information about Otopalatodigital syndrome type 2, you can visit the OMIM (Online Mendelian Inheritance in Man) database and search for the condition using the OMIM ID 300895. The OMIM entry provides a summary of the disorder, as well as information on the genetic basis, clinical features, and inheritance pattern. References to scientific articles can also be found in the OMIM entry.
Additional resources for learning more about Otopalatodigital syndrome type 2 include PubMed, a database of scientific articles, and support organizations and advocacy groups for rare genetic diseases. These sources can provide more information on the condition, research advancements, and support for patients and their families.
| Resource | Description |
|---|---|
| OMIM | Online Mendelian Inheritance in Man database |
| PubMed | Database of scientific articles |
| Support organizations and advocacy groups | Organizations providing support for rare genetic diseases |
Inheritance
Otopalatodigital syndrome type 2 is an X-linked genetic disorder. X-linked means that the condition is caused by mutations in genes found on the X chromosome. Inheritance of the condition follows a pattern where males are typically more severely affected than females.
The genetic cause of this condition is a mutation in the FLNA gene, which is responsible for the production of the filamin A protein. This protein is involved in the development of various tissues and structures in the body, including bones and connective tissue.
The FLNA gene mutation in otopalatodigital syndrome type 2 leads to the underdevelopment or absence of certain structures in the body. This can result in a range of physical features, such as abnormal facial features, hearing loss, and skeletal abnormalities.
Testing for otopalatodigital syndrome type 2 can be done through genetic testing. This involves analyzing a patient’s DNA to identify mutations in the FLNA gene. Genetic testing can provide definitive diagnosis and help inform treatment and management options.
The frequency of otopalatodigital syndrome type 2 is rare, and it is estimated to affect less than 1 in 1 million individuals. Due to the rarity of the condition, there may be limited resources and information available. However, there are various scientific articles, clinical resources, and advocacy organizations that provide support, information, and resources for affected individuals and their families.
Additional information about otopalatodigital syndrome type 2 can be found in scientific articles and clinical resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide more detailed information about the condition, including its causes, genetic inheritance, and associated features.
In summary, otopalatodigital syndrome type 2 is a rare genetic condition with X-linked inheritance. It is caused by mutations in the FLNA gene, which leads to underdeveloped or absent features, such as hearing loss and skeletal dysplasia. Genetic testing can be done to confirm the diagnosis, and additional resources like OMIM and PubMed can provide more information about the condition.
Other Names for This Condition
This condition, also known as otopalatodigital syndrome type 2 (OPD2), is a rare genetic disorder with clinical features such as underdeveloped fingers, absent or underdeveloped hearing, and dysplasia of the palate.
There are other names for this condition, including:
- Otopalatodigital syndrome, type II (OPD2)
- Otopalatodigital syndrome, Naudion type (OPD2)
- Oto-palato-digital syndrome, type II (OPD2)
- OPD2 syndrome
- OPD2 dysplasia
These names are used interchangeably to refer to the same genetic syndrome. OPD2 is one of several otopalatodigital syndromes characterized by abnormal development of the ears, palate, and fingers. It is an X-linked inheritance condition, meaning it primarily affects males and is caused by mutations in the FLNA gene.
More information about this condition, including genetic testing, patient support resources, and scientific articles, can be found on resources like OMIM, PubMed, and genetic testing centers.
Additional Information Resources
Here are some additional resources that you can refer to for more information about Otopalatodigital syndrome type 2:
- PubMed: A reliable scientific database where you can find articles and research papers about this rare genetic condition. Search for keywords like “Otopalatodigital syndrome type 2” or “OPD2” to access relevant information.
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the causes, clinical features, inheritance patterns, and more of Otopalatodigital syndrome type 2.
- National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that offers support, resources, and information about rare diseases. Their website provides educational materials, referral services, and a community for individuals affected by Otopalatodigital syndrome type 2.
- Genetic Testing: Genetic testing can be performed to confirm a diagnosis of Otopalatodigital syndrome type 2. It involves analyzing the patient’s DNA to identify any mutations in the genes associated with the condition. Consult a geneticist or a genetic testing center for more information.
- Otopalatodigital syndrome type 2 Genetic Testing and Diagnosis: This article provides an in-depth understanding of the testing and diagnosis process for Otopalatodigital syndrome type 2, including information on the genes involved and the clinical features of the condition.
- Support Groups: Support groups for Otopalatodigital syndrome type 2 can provide emotional support, practical advice, and a platform to connect with others who are going through similar experiences. The Naudion Syndrome Center and the Otopalatodigital Syndrome Type 2 Advocacy Group are two such organizations that offer support and resources.
Remember to consult trusted and reliable sources for accurate and up-to-date information about Otopalatodigital syndrome type 2.
Genetic Testing Information
Otopalatodigital syndrome type 2 is a rare genetic condition that affects various parts of the body, including the ears, palate, and fingers. It is characterized by underdeveloped or absent fingers, hearing loss, and abnormalities in the palate and facial features.
The inheritance of this condition is X-linked, which means that it primarily affects males. Females can be carriers of the gene mutation but are typically not affected by the condition themselves. The frequency of this syndrome is rare, with only a few hundred cases reported worldwide.
Otopalatodigital syndrome type 2 is caused by mutations in the FLNA gene, which provides instructions for making the filamin A protein. This protein is involved in the development and maintenance of various tissues in the body. Mutations in the FLNA gene can disrupt the normal function of the protein, leading to the characteristic features of this condition.
Genetic testing can be used to diagnose otopalatodigital syndrome type 2. This typically involves analyzing a blood or saliva sample to look for mutations in the FLNA gene. Genetic testing can help confirm the diagnosis, provide information about inheritance patterns, and offer insight into the prognosis of the individual affected by this condition.
In addition to otopalatodigital syndrome type 2, mutations in the FLNA gene can also cause other diseases and disorders, such as periventricular nodular heterotopia, cardiac valvular dysplasia, and macrothrombocytopenia. Therefore, genetic testing may be recommended for individuals with symptoms or a family history suggestive of these related conditions.
Genetic testing for otopalatodigital syndrome type 2 and related conditions can be obtained through specialized genetic testing laboratories or genetic centers. These facilities have the expertise to perform the necessary tests and interpret the results correctly.
For those seeking more information about otopalatodigital syndrome type 2 and genetic testing, various resources are available. The National Center for Advancing Translational Sciences’ GTR (Genetic Testing Registry) provides a catalog of genetic tests for this syndrome, along with associated clinical features and references to scientific articles.
Support and advocacy organizations can also provide helpful information and connect individuals and families affected by otopalatodigital syndrome type 2. Websites such as PubMed and Naudion Center for Rare Disease Advocacy may offer additional resources and references for those seeking to learn more about this rare genetic condition.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource that provides information about genetic and rare diseases. GARD offers articles, features, and a catalog of resources on various rare conditions, including Otopalatodigital syndrome type 2.
Otopalatodigital syndrome type 2, also known as OPD2 or Naudion syndrome, is a rare genetic disorder characterized by underdeveloped or absent fingers, dysplasia of the nails, hearing loss, cleft palate, and other physical abnormalities. It is an X-linked condition, meaning it is passed down through genes on the X chromosome.
GARD provides clinical information on the causes, symptoms, inheritance patterns, and frequency of OPD2. It also offers additional resources for patients and their families, such as genetic testing information, advocacy support, and scientific references.
This condition is caused by mutations in the FLNA gene, which provides instructions for making a protein called filamin A. Filamin A is involved in the development and maintenance of the skeletal system. When the FLNA gene is mutated, it can disrupt normal skeletal development, leading to the characteristic features of OPD2.
To learn more about Otopalatodigital syndrome type 2 and other rare diseases, GARD recommends consulting resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which provide scientific articles and research on various genetic conditions.
| Genetic condition: | Otopalatodigital syndrome type 2 (OPD2) |
|---|---|
| Inheritance: | X-linked |
| Clinical features: | Underdeveloped or absent fingers, dysplasia of the nails, hearing loss, cleft palate, and other physical abnormalities |
| Genes associated: | FLNA |
| Frequency: | Rare |
| Testing: | Genetic testing available |
| Additional resources: | OMIM, PubMed, advocacy support |
Patient Support and Advocacy Resources
Patients and families affected by Otopalatodigital syndrome type 2 can find support and resources from various organizations and online platforms. These resources aim to provide information, advocacy, and a community of support for individuals with the condition.
Here are some patient support and advocacy resources:
- Ondine’s Curse Foundation: This foundation provides information and support for individuals with rare genetic diseases. They offer resources, educational materials, and a community forum for patients and families.
- NORD (National Organization for Rare Disorders): NORD is dedicated to helping individuals with rare diseases. They provide resources, patient assistance programs, and advocacy for research and access to treatments.
- Genetic and Rare Diseases Information Center: This center, part of the National Institutes of Health, offers information on genetic and rare diseases, including Otopalatodigital syndrome type 2. They provide resources, genetic testing information, and references to clinical trials.
- PubMed: PubMed is a database of scientific articles and research. It can be used to find published studies and information about Otopalatodigital syndrome type 2. Patients and families can use PubMed to learn more about the condition, its causes, and potential treatments.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of genes and genetic diseases. It provides detailed information about Otopalatodigital syndrome type 2 and its associated genes. Patients and families can use OMIM to learn about the genetic inheritance pattern, clinical features, and frequency of the condition.
Additionally, genetic testing laboratories and healthcare providers specializing in genetic conditions can offer further information and support. These professionals can provide genetic testing services to confirm a diagnosis of Otopalatodigital syndrome type 2 and offer guidance on management and treatment options.
It is important for patients and families to seek support from these resources to gain a better understanding of the condition and connect with others going through similar experiences. They can provide valuable information, guidance, and emotional support in navigating the challenges associated with Otopalatodigital syndrome type 2.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides information on the genetic basis of diseases, including their causes, associated genes, inheritance patterns, and clinical features. OMIM is a valuable resource for researchers, clinicians, and patients seeking to learn more about rare genetic conditions.
OMIM catalog includes a vast array of genetic diseases, including Otopalatodigital syndrome type 2. This rare genetic condition is characterized by underdeveloped fingers and toes, as well as palate abnormalities. It is an X-linked condition, meaning it is caused by mutations in a gene located on the X chromosome.
The OMIM catalog provides detailed information about the affected genes and their associated diseases. It also includes references to scientific articles and other resources that provide additional support and information for testing and diagnosis.
For Otopalatodigital syndrome type 2, OMIM provides the following information:
- Syndrome Name: Otopalatodigital syndrome type 2
- Gene: FLNA
- Inheritance: X-linked
- Clinical Features: Underdeveloped fingers and toes, palate abnormalities
- Frequency: Rare
OMIM also provides a list of references to PubMed articles that contain more scientific information about this genetic condition. These articles can be valuable resources for researchers and medical professionals.
In addition to the information on specific diseases and genes, OMIM also provides advocacy resources and support for patients and families affected by rare genetic conditions. This includes information about patient support groups, clinical trials, and genetic testing resources.
In summary, the OMIM catalog is a valuable resource for researchers, clinicians, and patients seeking information about genetic diseases. It provides comprehensive information about the genetic basis, clinical features, and inheritance patterns of various diseases, including Otopalatodigital syndrome type 2.
Scientific Articles on PubMed
Otopalatodigital syndrome type 2 is a rare genetic condition characterized by underdeveloped fingers, hearing impairment, and underdeveloped palate. This syndrome is caused by mutations in the FLNA gene, which is located on the X chromosome and is inherited in an X-linked dominant pattern.
Scientific articles on PubMed provide valuable information about this rare genetic condition. Researchers and medical professionals can find resources on genetic testing, clinical features, inheritance patterns, and more. These articles can help in diagnosing and managing patients with Otopalatodigital syndrome type 2.
One scientific article titled “Otodigital dysplasia and related syndromes: underdiagnosed rare diseases” provides an overview of Otopalatodigital syndrome and other related conditions. This article discusses the clinical features, genetic causes, and inheritance patterns of these rare diseases.
Another article titled “Otopalatodigital Syndrome Type II: Clinical Presentation, Genetics, and Molecular Pathology” delves deeper into the molecular mechanisms underlying Otopalatodigital syndrome type 2. It discusses the specific mutations in the FLNA gene and their impact on the affected individuals.
PubMed also provides additional resources, such as references to other related articles and genetic testing centers. For those interested in advocacy and support, there are organizations and patient advocacy groups that provide information and assistance to individuals and families affected by Otopalatodigital syndrome.
In conclusion, PubMed offers a wealth of scientific articles on Otopalatodigital syndrome type 2 and other rare genetic diseases. These resources allow researchers and medical professionals to learn more about the condition, its genetic causes, testing options, and clinical features. By increasing our understanding of this rare syndrome, we can improve diagnosis, treatment, and support for affected individuals and their families.
References
- Otopalatodigital Syndrome Type 2. Retrieved from https://rarediseases.org/rare-diseases/otopalatodigital-syndrome-type-2/
- Learn About Otopalatodigital Syndrome Type 2. Retrieved from https://www.geneticsupport.org/otopalatodigital-syndrome-type-2
- Scientific Catalog of OMIM (Online Mendelian Inheritance in Man). Retrieved from https://www.omim.org/
- Otopalatodigital Syndrome Type 2 – Genetic Testing. Retrieved from https://www.cdc.gov/genomics/disease/opd/opd-pg.htm
- Naudion Syndrome. Retrieved from https://rarediseases.org/rare-diseases/opd-syndrome/
- OMIM Genetic Testing Center for Otopalatodigital Syndrome Type 2. Retrieved from https://www.omim.org/genetic-testing-centers/opd-like-syndromegenetic-testing-center/
- Otopalatodigital Syndrome Type 2 – Clinical Features. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK148448/
- References on Other Rare Diseases. Retrieved from https://rarediseases.org/advocacy/
- Otopalatodigital Syndrome Type 2 Information and Resources. Retrieved from https://www.geneticsupport.org/opd-like-syndrome
- PubMed Articles on Otopalatodigital Syndrome Type 2. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=otopalatodigital+syndrome+type+2