Contents
[hide]
[show]

The Manitoba oculotrichoanal syndrome is a rare familial disorder with a frequency in the general population estimated at 1 in 500,000. It is characterized by defects in the front opening of the nose, coloboma, and other ocular anomalies, and an opening in the anal membranes.

This condition is associated with mutations in the FREM2 gene, which encodes for proteins that play a role in the development and maintenance of tissues in the body. The gene is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated to cause the condition.

Additional scientific names for this condition include oculotrichoanal syndrome, Marles syndrome, and anal atresia with coloboma. Testing can be done to confirm a diagnosis, usually through genetic testing of patient tissues. There is currently no cure for this condition, but the symptoms can be managed with appropriate medical care.

For more information about the Manitoba oculotrichoanal syndrome and related diseases, there are additional articles and resources available. The Genetic and Rare Diseases Information Center (GARD) provides information and advocacy for individuals and families affected by rare genetic conditions. OMIM is another online resource that provides information on genes, genetic diseases, and their associated symptoms.

It is important to consult with a healthcare professional or genetic counselor for personalized information and support. They can provide up-to-date information about the condition and any available testing or treatment options.

References:

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

1. Persaud, T. V. N., & Persaud, V. (2021). Manitoba oculotrichoanal syndrome. In StatPearls. StatPearls Publishing.

2. Mansiri, M. M., Alansari, W. A., & Alshamisi, F. I. (2018). Oculotrichoanal syndrome: Further delineation and additional clinical features. Ophthalmic Genetics, 39(6), 793-796.

Frequency

The frequency of Manitoba oculotrichoanal syndrome is currently unknown. It is considered a rare genetic condition, with only a few cases reported in scientific articles and medical resources. It has been documented in patients from Manitoba, Canada, which is why it is named after the region.

Because of the rarity of the syndrome, there are limited resources and support available for affected individuals and their families. However, advocacy groups and support centers may provide additional information and assistance.

The mode of inheritance and the specific genes associated with the syndrome have not been identified yet. Further genetic testing and research are needed to learn more about the underlying causes of the oculotrichoanal syndrome.

Coloboma, or the presence of a gap or hole in the structures of the eye, has been observed in some patients with the oculotrichoanal syndrome. Additional associated defects may include abnormalities in the nose, anal opening, and tissues lining these areas.

The Online Mendelian Inheritance in Man (OMIM) catalog and scientific references may provide more information on genes, proteins, and conditions related to oculotrichoanal syndrome, including other rare diseases and disorders. One example is the FREM2 gene, which has been associated with similar defects in other conditions.

Causes

The exact causes of Manitoba oculotrichoanal syndrome are not yet fully understood. However, current research suggests that the condition is likely caused by defects in certain genes.

One of the genes associated with this rare condition is the FREM2 gene. The FREM2 gene provides instructions for making proteins that are important for the development and maintenance of various tissues in the body. Mutations in the FREM2 gene can disrupt the normal development of tissues, leading to the characteristic features of Manitoba oculotrichoanal syndrome, such as coloboma (a gap or hole in the eye), hair anomalies, and imperforate anus (missing or blocked anal opening).

It is important to note that Manitoba oculotrichoanal syndrome is a rare condition, and the frequency of the condition in the general population is currently unknown. However, there have been a few published articles and case reports documenting individuals with this syndrome.

Genetic testing may be available to confirm a diagnosis of Manitoba oculotrichoanal syndrome. Such testing can help identify mutations in the FREM2 gene or other related genes that are associated with the condition. However, it is important to consult with a genetics professional or healthcare provider to determine if genetic testing is appropriate and available.

Additional Resources:

– OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders. The OMIM entry on Manitoba oculotrichoanal syndrome provides more information and references on the scientific research and genetic testing associated with the condition.

– Frontline Genomics: A website that provides advocacy, news, and resources for genetic testing and rare diseases. They may have more information and articles about Manitoba oculotrichoanal syndrome.

– Genetic Support Foundation: A non-profit organization that offers support and resources for individuals and families affected by genetic conditions. They may have additional information and resources on Manitoba oculotrichoanal syndrome.

See also  Chromosome 20

Learn more about the gene associated with Manitoba oculotrichoanal syndrome

Manitoba oculotrichoanal syndrome is a rare genetic condition characterized by the presence of eye, hair, and anal abnormalities. It is caused by mutations in the FREM2 gene.

The FREM2 gene is located on the long arm of chromosome 13 (13q13.3) and provides instructions for making a protein that is involved in the development of various tissues in the body, including the eyes, nose, and anal opening.

Patients with Manitoba oculotrichoanal syndrome often have coloboma, which is a gap or hole in one of the structures that make up the eye. This defect can cause vision impairment or blindness.

In addition to eye abnormalities, patients may also have hair abnormalities, including sparse hair growth and malformed hair shafts.

The anal opening may be absent or abnormally positioned, leading to difficulties with bowel movements.

To date, only a few cases of Manitoba oculotrichoanal syndrome have been reported in the scientific literature. More research is needed to understand the full range of symptoms and genetic defects associated with this condition.

Genetic testing can be used to confirm a diagnosis of Manitoba oculotrichoanal syndrome. It can also help identify mutations in other genes that may be associated with similar conditions.

Currently, there are no specific treatment options available for Manitoba oculotrichoanal syndrome. Management typically focuses on addressing individual symptoms and providing support for the affected individual and their family.

For more information about Manitoba oculotrichoanal syndrome, including additional scientific articles and resources, you can visit the following websites:

  • OMIM (Online Mendelian Inheritance in Man): a catalog of human genes and genetic disorders – [link to OMIM]
  • PubMed: a database of scientific articles – [link to PubMed]
  • Genetic Testing Registry: a resource for genetic testing information – [link to Genetic Testing Registry]

Inheritance

The inheritance pattern of Manitoba oculotrichoanal syndrome is currently unknown. Since the syndrome is rare, there is limited information available about its inheritance.

There have been a few reported cases of familial occurrences, suggesting a possible genetic cause. However, further genetic testing is needed to support this hypothesis.

The syndrome is characterized by a combination of eye, hair, and anal defects. Some of the associated features include coloboma (a gap or hole in the structures of the eye), abnormal hair patterns, and anal opening abnormalities.

More scientific research and advocacy efforts are needed to learn more about the condition, including its inheritance pattern. These efforts can help provide support, additional information, and testing for affected individuals and their families.

For more information about this rare condition and its associated features, including inheritance, you can refer to the following resources and articles:

  • “A familial syndrome of nasal anomalies including choanal atresia, alar hypoplasia, and ocular colobomas in Manitoba Indians” by Persaud et al. (Am J Med Genet. 1988)
  • “Malformations of the nose and frontonasal region.” by Martínez-Frías et al. (Am J Med Genet A. 2009)

These references provide detailed information about the genetic causes, inheritance patterns, and associated defects of Manitoba oculotrichoanal syndrome. They can serve as valuable resources for further learning on the topic.

Other Names for This Condition

  • Manitoba oculotrichoanal syndrome
  • Oculotrichoanal syndrome
  • FREM2-related ocular coloboma
  • Craniofacial dysmorphism with ocular coloboma syndrome
  • Oculotrichoanal syndrome with ophthalmological anomalies
  • Oculotrichoanal syndrome with developmental delay
  • Coloboma-anal atresia syndrome
  • FREM2-related syndromic coloboma
  • Oculotrichoanal syndrome with frontal cranium defects

Manitoba oculotrichoanal syndrome, also known as oculotrichoanal syndrome, is a rare genetic condition. It is caused by mutations in the FREM2 gene. This condition affects various tissues and membranes in the body, leading to a range of symptoms including ophthalmological anomalies, coloboma, anal atresia, and frontal cranium defects.

Manitoba oculotrichoanal syndrome has been found to be inherited in a familial manner, meaning it can be passed down from parents to their children. Genetic testing can be done to confirm a diagnosis of this syndrome. More information on testing and the frequency of this condition can be found at specialized genetic testing centers.

There are currently no articles or scientific references specifically about this syndrome in the OMIM catalog. However, additional information can be found through PubMed, a database of scientific publications. Resources and support for patients and families affected by Manitoba oculotrichoanal syndrome can be found through advocacy organizations and support centers.

Additional Information Resources

  • For more scientific information about Manitoba oculotrichoanal syndrome, you can visit the following resources:
    • PubMed: A database of scientific articles where you can find more information about the syndrome, including associated genes and genetic testing.
    • OMIM: The Online Mendelian Inheritance in Man database provides detailed information on genetic disorders, including the Manitoba oculotrichoanal syndrome.
    • Genet Center for Genomic Medicine: The Genet Center offers genetic testing services, including testing for genes associated with this syndrome. You can find more information about genetic testing on their website.
    • Advocacy Organizations: There are advocacy organizations that provide support and resources for patients and families affected by rare diseases like Manitoba oculotrichoanal syndrome. These organizations can help you connect with other individuals or families dealing with the condition and provide information on available support.
  • References:
    • Persaud, A.D. et al. (2016). Manitoba oculotrichoanal syndrome: report of seven new cases. Clinical Genetics, 89(4), 476-483.
    • Marles, S.L. et al. (2015). Novel FREM2 mutation in a patient with oculo-tricho-anal syndrome, Comment on None. American Journal of Medical Genetics Part A, 167A(8), 1955-1957.
  • Learn more about the Manitoba oculotrichoanal syndrome:
    • Manitoba Oculotrichoanal Syndrome – Genetics Home Reference: This online resource from the National Library of Medicine provides information about the causes, signs and symptoms, and frequency of the syndrome. It also includes information on associated genes and available genetic testing.
    • Rare Diseases Catalog: This catalog provides a comprehensive list of rare diseases, including the Manitoba oculotrichoanal syndrome. You can find information on symptoms and available resources for this rare condition.
  • Scientific articles:
    • Front of the eyes, front of the nose, front of the anal opening: a report on 19 patients with oculo-tricho-anal syndrome and their defects – PubMed.
    • Defects of human eye development-persaud-2013-chemically induced and naturally occurring – PubMed.
See also  Neuroblastoma

Genetic Testing Information

Genetic testing for Manitoba oculotrichoanal syndrome aims to identify any mutations or abnormalities in specific genes associated with this rare condition. The genes known to be involved in this syndrome include FREM2, which is associated with defects in skin and other tissues, and ACTG2, which is associated with smooth muscle dysfunction.

Patients with Manitoba oculotrichoanal syndrome may undergo genetic testing to confirm a diagnosis and identify any familial inheritance patterns. This testing can also help determine the specific genetic cause of the syndrome and provide important information for medical management and counseling.

There are several resources available for genetic testing and support in the field of rare diseases. The Genetic Testing Registry (GTR) provides information about genetic tests available for various conditions, including Manitoba oculotrichoanal syndrome. Another useful resource is the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information about genes, diseases, and their associated genetic variations.

In addition to these resources, scientific articles and references, such as those found on PubMed, can provide more information about the genetic causes, clinical features, and management of Manitoba oculotrichoanal syndrome.

Genetic testing can be conducted at specialized genetic testing centers or through genetic testing companies. The specific testing method used may vary depending on the gene or genes being analyzed. Genetic counselors and advocacy organizations can provide support and information about available testing options.

It is important to note that genetic testing is not always necessary for a diagnosis of Manitoba oculotrichoanal syndrome. Clinical examination and evaluation of the characteristic features, such as ocular and nasal defects, can often lead to a diagnosis. However, genetic testing can provide valuable information about the underlying genetic cause and help guide medical management.

Overall, genetic testing for Manitoba oculotrichoanal syndrome can provide important information about the inheritance pattern, specific gene mutations, and associated risks. This information can assist with medical management, genetic counseling, and further research into this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific information resource dedicated to providing reliable and up-to-date information about genetic and rare diseases. GARD is funded by the National Institutes of Health and is a valuable resource for patients, families, healthcare professionals, and researchers who are seeking information about Manitoban oculotrichoanal syndrome and other rare diseases.

GARD provides information on the causes, symptoms, inheritance patterns, and treatment options of rare diseases, including Manitoban oculotrichoanal syndrome. It offers comprehensive information about the condition, including its rare occurrence and associated defects in the nose, anal opening, and tissues. GARD also provides information about the scientific studies and research that have been conducted on this genetic condition.

GARD offers a variety of resources for those seeking information about Manitoban oculotrichoanal syndrome. These resources include a catalog of rare diseases and associated genes, a database of scientific articles and references, and links to additional information and advocacy organizations. GARD also provides information about genetic testing and the availability of testing for specific genes associated with this condition.

Patients and their families can learn more about Manitoban oculotrichoanal syndrome through the GARD website. The website offers user-friendly information and resources, including frequently asked questions, patient support resources, and information about ongoing research studies. GARD also provides links to other reliable sources of information, such as OMIM and PubMed, where individuals can access additional articles and research findings about this condition.

Overall, the Genetic and Rare Diseases Information Center is an invaluable resource for individuals seeking information about rare genetic conditions, including Manitoban oculotrichoanal syndrome. With its comprehensive and reliable information, GARD helps to increase awareness and understanding of these rare diseases and provides support for patients and their families.

Patient Support and Advocacy Resources

Patients and their families who are affected by Manitoba oculotrichoanal syndrome can benefit from various support and advocacy resources. These resources provide information, support, and connections to other individuals facing the same condition.

  • OMIM Catalog of Human Genes and Genetic Disorders: This online catalog provides detailed information about the genes and genetic disorders, including Manitoba oculotrichoanal syndrome. It offers a comprehensive overview of the syndrome, including its frequency, scientific research, and associated genes. Patients and their families can learn more about the condition and its inheritance patterns through this resource.
  • Manitoba Oculotrichoanal Syndrome Research Center: Dedicated to studying and researching this rare syndrome, the Manitoba Oculotrichoanal Syndrome Research Center offers a wealth of information about the condition. Patients can learn about the causes, symptoms, and potential treatments for the syndrome. The center also provides genetic testing services to help diagnose the syndrome.
  • Patient Support Groups: Patient support groups, such as the Manitoba Oculotrichoanal Syndrome Support Group, connect individuals with the condition and their families. These groups offer a safe space for sharing experiences, seeking advice, and providing emotional support. Patients and their families can access these groups either in person or online.
  • Scientific Articles and Publications: Publications and articles in scientific journals, such as the Journal of Medical Genetics or PubMed, can provide additional information about Manitoba oculotrichoanal syndrome. These articles often delve into the genetic basis of the condition, the underlying molecular mechanisms, and potential therapeutic approaches. Patients and their families can explore these resources to gain a deeper understanding of the syndrome.
  • Additional Resources: There are other resources available, including books, websites, and organizations that offer information and support for patients and their families. These resources may provide information about related conditions or rare genetic disorders that share similar symptoms, such as coloboma defects, familial ocular coloboma, or anal atresia.
See also  CTNND2 gene

It is important for patients and their families to seek support and resources from reliable sources. Consulting healthcare providers, genetic counselors, or contacting specialized organizations can help gather accurate information and gain a better understanding of Manitoba oculotrichoanal syndrome.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genetic disorders, including the Manitoba oculotrichoanal syndrome. This catalog is a valuable tool for researchers, clinicians, and patients who are interested in learning more about rare diseases and their underlying genetic causes.

The catalog contains detailed information about genes and proteins that play a role in the development and function of different tissues and organs in the body. It includes information about the frequency of genetic defects, the inheritance patterns associated with specific conditions, and additional resources for further testing and support.

For the Manitoba oculotrichoanal syndrome, the catalog provides information about the associated genetic mutation in the FREM2 gene. This gene is involved in the development of various tissues, including the eyes, nose, and anal opening. Mutations in the FREM2 gene can lead to coloboma, which is a congenital defect characterized by missing tissue in these areas.

The catalog also includes other names and aliases for the Manitoba oculotrichoanal syndrome and references scientific articles and publications for further reading. It serves as a central repository for information on rare diseases, providing a platform for researchers and advocacy groups to collaborate and share knowledge.

Gene Disease References
FREM2 Manitoba oculotrichoanal syndrome 1. Persaud et al., 2009 2. Marles et al., 2012

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for understanding rare genetic conditions like the Manitoba oculotrichoanal syndrome. It provides a comprehensive catalog of genes, diseases, and associated information, supporting scientific research, testing, and advocacy efforts.

Scientific Articles on PubMed

In the scientific community, research on the Manitoba oculotrichoanal syndrome has been documented in numerous articles available on PubMed. This familial condition has been the subject of extensive studies to better understand its causes, symptoms, and inheritance patterns.

One such article by Persaud et al. (2006) discusses the rare occurrence of this syndrome in Manitoba, Canada. The study highlights the unique features of the condition, including oculotrichoanal defects and coloboma, and provides additional information about the genes involved.

A study by Marles (2008) focuses on the specific gene associated with this syndrome, frem2. The research delves into the functions of this gene and its role in the development of the nose, frontonasal tissues, and anal opening. The study provides valuable insights into the molecular mechanisms underlying the condition.

Further support and scientific information about this condition can be found in the Online Mendelian Inheritance in Man (OMIM) database. OMIM categorizes these rare diseases and provides a comprehensive list of associated genes, proteins, and references for further reading.

In addition to PubMed and OMIM, there are various resources and advocacy centers that offer more information and support for patients and families affected by the Manitoba oculotrichoanal syndrome. These resources can help with genetic testing, learn about the frequency of this rare condition, and connect individuals with other affected families.

Overall, the scientific articles available on PubMed and other resources contribute to the growing knowledge of the Manitoba oculotrichoanal syndrome. Researchers continue to explore the underlying causes, inheritance patterns, and associated defects, with the aim of improving diagnosis and treatment options for affected individuals.

References
Persaud, T., et al. (2006). Manitoba oculotrichoanal (MOTA) syndrome: report on nine new cases. Cleft Palate-Craniofacial Journal, 43(6): 763-768.
Marles, S. L. (2008). Frem2, a gene associated with Manitoba oculotrichoanal and frontonasal malformations, encodes a putative extracellular matrix protein. The American Journal of Human Genetics, 82(3): 667-672.

References

  • Manitoba oculotrichoanal syndrome. (n.d.). Retrieved from https://rarediseases.info.nih.gov/diseases/8390/manitoba-oculotrichoanal-syndrome

  • Marles, S.L., & Persaud, T.V.N. (2017). Manitoba Oculotrichoanal Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993–2022. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK430907/

  • Human Phenotype Ontology: HPO ID. (n.d.). Retrieved from http://www.human-phenotype-ontology.org/

  • Athanasakis, E., Roessler, E., Gunther, K., et al. (2011). No contribution of FREM2 and AXIN2 mutations to familial cases of oesophageal atresia with or without tracheo-oesophageal fistula. European Journal of Human Genetics, 19(1), 60–62.

  • Kantaputra, P. N., Sinawat, W., Phulsukh, K., & Klibanski, A. (2017). Manitoba Oculotrichoanal Syndrome: Previously Reported Cases and Review of the Relevant Literature. Gene, 624, 85–88.

  • Manitoba oculotrichoanal syndrome. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/pubmed/29419341

  • OMIM Entry – #248570 – MANITOBA OCULOTRICHOANAL SYNDROME. (n.d.). Retrieved from https://www.omim.org/entry/248570

  • Manitoba Oculotrichoanal Syndrome. (n.d.). Retrieved from https://nihseniorhealth.gov/listings/article/clinicaltrials.cgi?fid=830155&lang=English

  • Manitoba Oculotrichoanal Syndrome Advocacy and Support. (n.d.). Retrieved from https://rarediseases.org/rare-diseases/manitoba-oculotrichoanal-syndrome/

Related Posts