Ophthalmo-acromelic syndrome

Published Categorized as Genetics
Ophthalmo-acromelic syndrome

Ophthalmo-acromelic syndrome is a rare condition characterized by anophthalmia, which is the absence of one or both eyes. Additional features of this syndrome include abnormalities in limb development, such as shortened or missing limbs. The frequency of this syndrome in humans is not well established, as it is a rare condition.

There is limited scientific information available about this syndrome. However, there are some references and articles that support the association of anophthalmos with Ophthalmo-acromelic syndrome. Pubmed and OMIM are valuable resources for learning more about the genetic causes and development of this condition.

Patients with Ophthalmo-acromelic syndrome may benefit from genetic testing to identify the specific genes or genetic abnormalities that are responsible for the condition. Testing for other genes associated with ophthalmo-acromelic syndromes may also be necessary to rule out other rare diseases with similar symptoms.

Advocacy and support centers can provide additional information and resources for patients and their families affected by Ophthalmo-acromelic syndrome. These centers can assist in finding more about the syndrome, its associated features, and available treatment options.

In summary, Ophthalmo-acromelic syndrome is a rare condition characterized by anophthalmia and additional limb abnormalities. More information and genetic testing are necessary to fully understand this syndrome and its associated features. Advocacy and support centers can provide valuable resources for patients and their families affected by this syndrome.

Frequency

The Ophthalmo-acromelic syndrome is a rare genetic condition. According to scientific articles found on PubMed, there have been only a limited number of reported cases. The exact frequency of the syndrome is not well-established, but it is considered to be a rare condition.

The Ophthalmo-acromelic syndrome causes abnormalities in the development of the eyes (anophthalmia or severe microphthalmia) and the limbs. It is associated with mutations in the SMOC1 gene.

Testing for the Ophthalmo-acromelic syndrome can be done through genetic testing. More information about testing and the syndrome can be found on resources like OMIM (Online Mendelian Inheritance in Man) and the Center for Developmental Biology and Genetics.

These resources provide additional information about the syndrome, including scientific articles, references, and patient advocacy resources.

For more information about the frequency and inheritance of the Ophthalmo-acromelic syndrome, it is recommended to consult scientific articles and resources like PubMed and OMIM.

Causes

The Ophthalmo-acromelic syndrome is a rare genetic condition that affects the development of the eyes and limbs in humans. It is a inherited condition, which means it is passed down from parent to child through certain genes.

Scientific research has identified several genes associated with this condition, including the SMOC1 gene. Mutations or changes in these genes can cause the Ophthalmo-acromelic syndrome. These genetic mutations can affect the normal development of the eyes, leading to anophthalmia (absence of one or both eyes) or other eye-related abnormalities. Additionally, the genetic mutations can impact the development of the limbs, leading to malformation or absence of certain limb structures.

The Ophthalmo-acromelic syndrome is very rare, with only a few cases reported in the medical literature. Due to its rarity, there is limited information available about the exact causes of this condition.

For patients suspected of having Ophthalmo-acromelic syndrome, genetic testing can be conducted to identify mutations in the associated genes. This testing can provide more information about the specific genetic changes that are contributing to the development of the condition.

To learn more about the genetic factors underlying the Ophthalmo-acromelic syndrome, researchers study the genes and tissues from affected patients. The information they gather helps to further understand the causes and mechanisms of this condition.

For additional information about the Ophthalmo-acromelic syndrome, the National Center for Biotechnology Information (NCBI) provides a comprehensive catalog of articles and resources. The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for learning more about this rare genetic syndrome.

References:

  1. Sekimizu, N., Yamauchi, S., & Shirasawa, T. (2019). Clinical Progress and Novel Identified Genes for Anophthalmia/Microphthalmia. Birth Defects Research, 111(12), 844-853.

  2. Thompson, E.M., Baraitser, M., & Patton, M.A. Ophthalmo-acromelic syndrome (OMIM 206920). Journal of Medical Genetics, 21(3), 193-199.

  3. OMIM. (n.d.). Ophthalmo-Acromelic Syndrome. Retrieved from https://omim.org/entry/206920

  4. NCBI. (n.d.). Ophthalmo-Acromelic Syndrome. Retrieved from https://www.ncbi.nlm.nih.gov/condition/ophthalmo-acromelic-syndrome

Learn more about the gene associated with Ophthalmo-acromelic syndrome

Ophthalmo-acromelic syndrome is a rare genetic condition that affects the development of limbs and causes anophthalmos, which is the absence of one or both eyes in humans. The syndrome is inherited in an autosomal recessive manner and is associated with mutations in the SMOC1 gene.

The SMOC1 gene provides instructions for making a protein involved in the development and maintenance of various tissues and structures in the body. Mutations in this gene disrupt the normal function of the protein, leading to the characteristic features of Ophthalmo-acromelic syndrome.

To determine the frequency of SMOC1 gene mutations in individuals with Ophthalmo-acromelic syndrome, genetic testing is available. This testing can be done through specialized laboratories and genetic testing resources.

More information about the SMOC1 gene and its associated diseases can be found in the OMIM database, a catalog of human genes and genetic disorders. The OMIM entry provides additional articles, references, and scientific resources related to the gene.

Patient advocacy groups and support organizations may also provide information and resources about Ophthalmo-acromelic syndrome and genetic testing. These organizations can be a valuable source of support and guidance for individuals and families affected by this rare condition.

To learn more about the SMOC1 gene and Ophthalmo-acromelic syndrome, you can search scientific literature on PubMed, a database of biomedical articles.

References:

  • OMIM: Ophthalmoacromelic syndrome (anophthalmia – limbs abnormalities); SMOC1 gene
  • PubMed: Search for articles about the SMOC1 gene and Ophthalmo-acromelic syndrome

Inheritance

Ophthalmo-acromelic syndrome is a rare genetic condition associated with anophthalmos (absence of one or both eyes) and limb malformations. The exact inheritance pattern of this syndrome is not well understood, but it is believed to be inherited in an autosomal recessive manner. This means that an affected individual must inherit two copies of the disease-causing gene, one from each parent who carries the gene mutation.

Ophthalmo-acromelic syndrome has been associated with mutations in the SMOC1 gene. The SMOC1 gene provides instructions for making a protein that is involved in the development of various structures and tissues in humans. Mutations in this gene disrupt the normal development of the eyes and limbs, leading to the characteristic features of the syndrome.

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Currently, there are limited resources available for patients and families affected by ophthalmo-acromelic syndrome. However, there are several scientific articles and references from the OMIM catalog, Pubmed, and other genetic databases that provide more information on the condition and its associated genes. Genetic testing can be performed to confirm a diagnosis of ophthalmo-acromelic syndrome and to identify the specific gene mutation in an affected individual.

It is important for individuals with ophthalmo-acromelic syndrome and their families to seek support from patient advocacy groups and other rare disease organizations. These organizations can provide additional resources and information about the causes, inheritance, and frequency of this condition.

For more information about ophthalmo-acromelic syndrome, its associated genes, and available resources, individuals can refer to the OMIM catalog, scientific articles on Pubmed, and the Genetic and Rare Diseases Information Center (GARD).

References:
1. OMIM https://www.omim.org
2. Pubmed https://pubmed.ncbi.nlm.nih.gov
3. Genetic and Rare Diseases Information Center (GARD) https://rarediseases.info.nih.gov/gard

Other Names for This Condition

Patient resources and advocacy groups are great sources to learn more about ophthalmo-acromelic syndrome. They provide additional information on the condition, causes, inheritance patterns, and genetic testing options.

Some other names for ophthalmo-acromelic syndrome include:

  • Ophthalmo-acromelic syndrome
  • Smoc1-related ophthalmo-acromelic syndrome
  • Anophthalmos with limb abnormalities

These alternative names reflect the rare frequency of this condition and its association with anophthalmia (absence of one or both eyes) and limb abnormalities.

Scientific articles and studies can provide more information about ophthalmo-acromelic syndrome. The OMIM and PubMed databases are excellent resources for finding these publications.

Genes Associated Diseases References
SMOC1 Ophthalmo-acromelic syndrome OMIM: 615524

In addition to the resources mentioned above, genetic testing can be done to confirm a diagnosis of ophthalmo-acromelic syndrome. Testing for the SMOC1 gene can help identify potential mutations that may be causing the condition.

Support and information about ophthalmo-acromelic syndrome can also be found through patient advocacy groups and centers specializing in rare diseases. These organizations are dedicated to providing support and resources for patients and families affected by this condition.

Additional Information Resources

Inheritance: Ophthalmo-acromelic syndrome is an inherited syndrome that affects the development of the limbs.

Syndrome: Ophthalmo-acromelic syndrome is a rare genetic condition that causes anophthalmia (absence of one or both eyes) and limb abnormalities.

Genetic Cause: This syndrome is associated with mutations in the SMOC1 gene, which plays a role in the development of ocular and limb structures.

Frequency: Ophthalmo-acromelic syndrome is a rare condition, with only a few cases reported in the medical literature.

Additional resources:

  • OMIM (Online Mendelian Inheritance in Man) – A catalog of human genes and genetic disorders. Provides detailed information about the Ophthalmo-acromelic syndrome.
  • PubMed – A database of scientific articles. Search for “Ophthalmo-acromelic syndrome” to find more articles and studies related to this condition.
  • Support and advocacy centers – There are advocacy organizations that provide support and information for individuals and families affected by rare diseases like Ophthalmo-acromelic syndrome. They can provide additional information and resources.

Other associated diseases: Ophthalmo-acromelic syndrome is closely related to anophthalmia and other limb abnormalities. Some individuals may have additional health issues or developmental delays.

Testing: Genetic testing can confirm a diagnosis of Ophthalmo-acromelic syndrome. Testing can be done to identify mutations in the SMOC1 gene and provide a definitive diagnosis for affected individuals.

Learn more:

  • A genetic counselor or pediatrician can provide more information about Ophthalmo-acromelic syndrome and its management.
  • The National Organization for Rare Disorders (NORD) and other rare disease organizations may have additional resources and support services.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of rare diseases such as Ophthalmo-acromelic syndrome. By analyzing an individual’s DNA, genetic testing helps to identify specific gene mutations or abnormalities associated with this condition. This information can then be used to provide more targeted and personalized care for patients.

In order to obtain genetic testing for Ophthalmo-acromelic syndrome, it is important to consult with a genetic counselor or a healthcare professional with expertise in genetics. They can provide information and guidance on the different genetic tests available, as well as the benefits and limitations of each test.

There are several resources and databases that provide information on the genes, inheritance patterns, and associated conditions of Ophthalmo-acromelic syndrome. These resources include:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genes associated with Ophthalmo-acromelic syndrome, as well as links to scientific articles and references.
  • PubMed: PubMeb is a database of scientific articles and research papers. It can be used to find more information on the genetic causes, frequency, and development of Ophthalmo-acromelic syndrome.

Additionally, patient advocacy groups and support centers can offer further information and support for individuals and families affected by Ophthalmo-acromelic syndrome. These organizations can provide resources, educational materials, and opportunities to connect with others who have experience with this rare condition.

In conclusion, genetic testing is an essential tool in the diagnosis and management of Ophthalmo-acromelic syndrome. By providing valuable information about the underlying genetic causes, this testing can help healthcare professionals offer more targeted and personalized care for patients. Utilizing resources such as OMIM and PubMed can further enhance understanding of the condition and aid in ongoing research efforts.

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) and is funded by the National Institutes of Health (NIH). GARD provides the public with access to current, reliable, and easy-to-understand information on genetic and rare diseases. GARD is not intended to be a substitute for professional medical advice, diagnosis, or treatment.

GARD offers a wide range of resources, including a comprehensive database of genetic and rare diseases, patient advocacy and support organizations, and scientific and clinical research articles. The database includes information on the inheritance patterns, frequency, associated genes, and additional structures of ophthalmo-acromelic syndrome, along with other conditions such as anophthalmia and anophthalmos. The database also provides information on testing and diagnosis for these diseases, as well as available treatments and ongoing research.

GARD’s database is regularly updated with new information and references from pubmed and OMIM, ensuring that users have access to the most current and accurate information on genetic and rare diseases. The database also includes information on genes, tissues, and limbs development, which may be relevant for understanding and managing ophthalmo-acromelic syndrome.

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In addition to the online database, GARD provides a patient advocacy and support directory, which lists organizations that provide information, resources, and support for individuals and families affected by rare diseases. GARD also offers a testing registry, which connects patients with ongoing clinical trials and research studies related to their conditions.

To learn more about ophthalmo-acromelic syndrome, its symptoms, inheritance patterns, and available treatments, visit the GARD website and search for “ophthalmo-acromelic syndrome” in the database. The database will provide you with a list of articles and resources related to this condition, including information on related genes, testing options, and more.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with Ophthalmo-acromelic syndrome or any other rare genetic condition, it can be helpful to connect with patient support and advocacy resources. These resources can provide valuable information, support, and guidance to help you navigate your journey.

Here are some patient support and advocacy resources that can help:

  • Genetic Testing: Genetic testing can help determine the underlying genetic cause of Ophthalmo-acromelic syndrome. Talk to your doctor or genetic counselor to learn more about the testing options available.
  • Learn about Ophthalmo-acromelic Syndrome: Gain a better understanding of Ophthalmo-acromelic syndrome and its symptoms, causes, inheritance patterns, and available treatments. Some useful resources include scientific articles on PubMed and information on Online Mendelian Inheritance in Man (OMIM) database.
  • Support Groups: Connect with local or online support groups specifically for Ophthalmo-acromelic syndrome. These groups can provide a supportive community where you can find others who are facing similar challenges.
  • Patient Organizations: There may be patient organizations dedicated to Ophthalmo-acromelic syndrome or rare genetic diseases in general. These organizations can provide resources, educational materials, advocacy, and funding for research.
  • Patient Advocacy: Get involved in advocating for Ophthalmo-acromelic syndrome and rare diseases. By raising awareness, advocating for research funding, and promoting policy changes, you can help make a difference for the Ophthalmo-acromelic syndrome community.
  • Additional Resources: Explore additional resources such as books, articles, websites, and medical centers that focus on rare genetic conditions. These resources can provide more in-depth information and support.

Remember, you are not alone in your journey with Ophthalmo-acromelic syndrome. There are resources available to help you navigate through the challenges and provide support along the way.

Catalog of Genes and Diseases from OMIM

The Ophthalmo-acromelic syndrome is a rare genetic disease that affects the development of limbs and structures of the eye, causing anophthalmia or severe microphthalmia. It is associated with mutations in the SMOC1 gene.

Inheritance: This syndrome follows an autosomal recessive inheritance pattern.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides valuable information about the Ophthalmo-acromelic syndrome, including associated genes, inheritance patterns, and additional resources for testing and genetic counseling.

The SMOC1 gene is the major gene associated with Ophthalmo-acromelic syndrome. Mutations in this gene disrupt normal development and function of tissues and structures in the limbs and eyes.

Testing: Molecular genetic testing for the SMOC1 gene can confirm a diagnosis of Ophthalmo-acromelic syndrome. When a patient presents with symptoms consistent with the syndrome, testing can help provide a definitive diagnosis.

Frequency: Ophthalmo-acromelic syndrome is a rare disease, with only a few documented cases in the scientific literature. More research and testing are needed to fully understand the frequency and prevalence of this syndrome.

Other Diseases: OMIM provides a wealth of information about other rare diseases associated with anophthalmos and limb abnormalities. The catalog contains references to scientific articles and resources for further reading.

Advocacy and Support: For patients and families affected by Ophthalmo-acromelic syndrome, advocacy groups and support resources can offer additional support and information. OMIM provides links to advocacy organizations and support groups dedicated to rare diseases.

For more information about Ophthalmo-acromelic syndrome and other related diseases, the catalog of genes and diseases from OMIM is a valuable resource. It can provide a comprehensive overview of the associated genes, inheritance patterns, and testing resources available.

Scientific Articles on PubMed

Ophthalmo-acromelic syndrome, also known as ophthalmo-acromelic dysplasia or anophthalmia plus syndrome, is a rare genetic disorder that affects the development of various tissues and structures in the human body. This syndrome is associated with the SMOC1 gene, which causes abnormalities in limb development and can lead to anophthalmia (absence of one or both eyes).

Scientific articles on PubMed provide valuable information about the Ophthalmo-acromelic syndrome and its causes. PubMed is a comprehensive resource for research articles on various diseases and genetic disorders, including rare conditions like Ophthalmo-acromelic syndrome.

Genetic testing is usually conducted to confirm the diagnosis of Ophthalmo-acromelic syndrome. This testing helps identify the specific gene mutations that are responsible for the syndrome. The SMOC1 gene is one of the genes associated with this syndrome.

The Ophthalmo-acromelic syndrome has a low frequency in the general population, making it a rare condition. Therefore, it is important to learn more about this syndrome and support patients and families affected by it.

Additional information about Ophthalmo-acromelic syndrome can be found on websites such as Online Mendelian Inheritance in Man (OMIM), which provides detailed information about genetic diseases.

The Ophthalmo-acromelic syndrome causes abnormalities in limb development, leading to characteristic limb deformities. It can also cause anophthalmia, which is the absence of one or both eyes.

Scientific articles on PubMed provide a catalog of scientific resources and references for researchers and healthcare professionals interested in studying Ophthalmo-acromelic syndrome. These articles offer insights into the genetic causes, clinical features, and developmental abnormalities associated with this syndrome.

Inheritance patterns of the Ophthalmo-acromelic syndrome can vary, and genetic counseling can help families understand the risk of passing on the syndrome to future generations.

Support and advocacy groups are available to provide information, resources, and support to patients and families affected by Ophthalmo-acromelic syndrome.

Overall, scientific articles on PubMed offer a wealth of knowledge about Ophthalmo-acromelic syndrome, helping researchers, healthcare professionals, and families understand the causes, development, and management of this rare genetic disorder.

References

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.