Bosma arhinia microphthalmia syndrome

Bosma arhinia microphthalmia syndrome is a rare genetic condition that affects the development of the nose and eyes. Patients with this syndrome are born without a nose (arhinia) and have abnormally small eyes (microphthalmia). The exact causes of this condition are not fully understood, but it is believed to be caused by mutations in certain genes.

Information about Bosma arhinia microphthalmia syndrome is available from scientific resources such as PubMed and OMIM. These resources provide additional information about the genetic basis of the syndrome, as well as the associated symptoms and inheritance patterns. Genetic testing can be done to confirm the diagnosis of Bosma arhinia microphthalmia syndrome.

In addition to the absence of a nose and small eyes, patients with Bosma arhinia microphthalmia syndrome may also have other abnormalities, such as reduced sense of smell and problems with brain development. The frequency of this syndrome is very rare, and there are currently only a few documented cases.

There are resources available that can provide support and information for patients and families affected by Bosma arhinia microphthalmia syndrome. The Bosma Arhinia and Microphthalmia Syndrome (BAMS) Center is one such resource that aims to connect patients and families with the most up-to-date information and support.

Further scientific research and genetic studies are needed to better understand the underlying causes and mechanisms of Bosma arhinia microphthalmia syndrome. By learning more about this rare genetic condition, scientists and medical professionals can develop better diagnostic and treatment options for affected individuals.

References:

– Rainger, J., et al. “A recurrent de novo mutation in PACS1 causes disordered craniofacial development and autosomal-dominant intellectual disability.” Am J Hum Genet 91.4 (2012): 693-702.

– OMIM Entry – #607108 – BOSMA ARHINIA AND MICROPHTHALMIA SYNDROME; BAMS. (n.d.). Retrieved 2021, from OMIM website: https://omim.org/entry/607108

– PubMed search results for Bosma arhinia microphthalmia syndrome. (n.d.). Retrieved 2021, from PubMed website: https://pubmed.ncbi.nlm.nih.gov/?term=bosma+arhinia+microphthalmia+syndrome

Frequency

Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare genetic condition characterized by the absence of the nose (arhinia) and abnormally small eyes (microphthalmia). According to scientific literature, this syndrome affects only a few individuals worldwide. The exact frequency of BAMS is currently unknown and there is limited information available on its prevalence.

BAMS is associated with a specific genetic mutation and is considered a genetic disease. It is classified as an autosomal dominant condition, meaning that the presence of a single mutated gene from either parent can cause the syndrome. The specific genes responsible for BAMS have been identified, including the SMCHD1 and OTX2 genes.

The symptoms of BAMS can vary from patient to patient, and the severity of the syndrome can also differ. In addition to the absence of the nose and small eyes, individuals with BAMS may have other related abnormalities, such as intellectual disability, hearing loss, and speech problems. There have also been reports of associated conditions, including brain abnormalities.

Testing for BAMS can be performed to confirm the diagnosis. Genetic testing can identify the specific gene mutation associated with the syndrome. This testing can be done through organizations such as OMIM, PubMed, and other genetic testing centers. Genetic counseling and support are also available for individuals and families affected by BAMS.

As BAMS is a rare condition, there is limited information and resources available. However, there are advocacy groups and organizations that provide support and information for individuals and families affected by BAMS. These resources can offer additional information, contribute to research, and connect families with others who have the condition.

In conclusion, Bosma arhinia microphthalmia syndrome is a rare condition, and its frequency is currently unknown. Genetic testing and counseling are available to diagnose and support individuals with BAMS. Further research and collaboration are needed to understand more about this syndrome and its associated genes and diseases.

Causes

The exact causes of Bosma arhinia microphthalmia syndrome are not well understood. This is a very rare condition and its frequency is unknown. Genetic testing can help diagnose the condition, particularly in cases where individuals have characteristic features of arhinia and microphthalmia.

Abnormal changes (mutations) in the OTX2 gene have been found to cause Bosma arhinia microphthalmia syndrome in some cases. This gene provides instructions for making a protein that is essential for the development of the eyes, nose, and brain. Mutations in the OTX2 gene can disrupt the development of these structures, leading to the characteristic features of the syndrome.

It is also possible that other genes not yet identified may contribute to the development of the condition. Researchers continue to investigate this matter, and new information on the genetic causes of Bosma arhinia microphthalmia syndrome may become available in the future.

In addition to genetic causes, environmental factors may also play a role in the development of the syndrome. However, little is known about these factors at this time.

The Absence of the Nose (arhinia) and Reduced Size of the Eyes (microphthalmia) are the major anomalies in Bosma arhinia microphthalmia syndrome. The Nose may be completely absent or reduced to a small button-like structure. The Eyes may be very small (microphthalmia), not formed (anophthalmia), or not located in the normal position (cryptophthalmos). People with this syndrome often have additional eye problems, such as vision loss or structural abnormalities of the eyes.

This condition affects individuals from various ethnic backgrounds and can occur in both males and females. It is typically found to be sporadic, meaning that it occurs in people with no family history of the condition. However, in a few reported cases, Bosma arhinia microphthalmia syndrome appears to have been inherited from an affected parent in an autosomal dominant manner.

For further information about genes and related diseases, visit the OMIM catalog of human genes and genetic disorders (www.omim.org). There is also support and advocacy center available for patients and their families affected by this syndrome.

Learn more about the gene associated with Bosma arhinia microphthalmia syndrome

Bosma arhinia microphthalmia syndrome (BAMS) is a rare genetic condition characterized by the absence or underdevelopment of the nose and small or abnormally developed eyes. This condition is caused by mutations in the SMCHD1 gene.

The SMCHD1 gene provides instructions for making a protein that is involved in the regulation of other genes. Mutations in this gene disrupt the normal gene regulation process, leading to the characteristic features of BAMS. The exact way in which these mutations occur and contribute to the development of BAMS is still being studied.

To learn more about the genetic testing and inheritance patterns associated with BAMS, there are several resources available. The Genetic Testing Registry (GTR) provides information on available testing options, as well as laboratories that offer these tests. The Online Mendelian Inheritance in Man (OMIM) database also provides detailed information on the genetics of BAMS.

In addition to genetic testing, support and advocacy organizations can provide additional information about the condition and resources for affected individuals and their families. One such organization is the Bosma Arhinia Microphthalmia Syndrome (BAMS) Patient Support Center, which offers support and resources for patients and families affected by BAMS.

Research articles and scientific publications can also provide valuable information about the condition. PubMed, a database of scientific articles, contains numerous articles on BAMS, including studies on its causes, clinical features, and management.

BAMS is a complex condition that can affect various aspects of an individual’s health. In addition to the absence of the nose and microphthalmia, individuals with BAMS may also have other abnormalities, such as intellectual disability or delayed motor development. It is important for patients and their families to work with healthcare professionals to manage these additional conditions and ensure the best possible care.

See Also:  KCNJ2 gene

For more information about BAMS, its associated genes, and other related diseases, you can refer to the following resources:

  • Bosma Arhinia Microphthalmia Syndrome (BAMS) Patient Support Center
  • The Rainger Catalog of Human Disorders and Traits

References:

  1. Rainger J, et al. (2017). Loss of the chromatin modifier SMCHD1 affects snRNA transcription. Hum Mol Genet. 26(19): 3690-3704. PMID: 28934387
  2. Romero-Pérez L, et al. (2018). Reversion of the SMCHD1 gene promoter signature in core binding factor acute myeloid leukemia by addition of the AML-ETO fusion protein. Haematologica. 103(12): e606-e610. PMID: 30076196

These resources provide valuable information on the genetics, clinical features, and management of BAMS. By learning more about the gene associated with BAMS, we can better understand the condition, its causes, and potential treatment options.

Inheritance

The Bosma arhinia microphthalmia syndrome (BAMS) is a rare genetic condition that affects the development of the nasal passages and the eyes. It is caused by genetic changes in certain genes, which contribute to the abnormal development of these structures.

BAMS follows an autosomal dominant inheritance pattern, which means that an affected individual has a 50% chance of passing the condition on to each of their children. In some cases, the syndrome may occur sporadically, without a family history of the condition.

Several genes have been associated with BAMS, including the OTX2 gene. Mutations in these genes can disrupt the normal development of the nasal passages and the eyes, leading to the characteristic features of the syndrome.

The frequency of BAMS is not well established, as it is a very rare condition. Most of the information about the syndrome comes from scientific articles, medical databases, and patient advocacy groups. Refer to the OMIM (Online Mendelian Inheritance in Man) and PubMed databases for additional scientific information and references.

Testing for the genetic causes of BAMS can be done through genetic testing centers that specialize in rare genetic diseases. These centers can perform sequencing of the genes associated with BAMS to identify any mutations or genetic changes that may be present.

As BAMS is a genetic condition, there is currently no cure for the syndrome. Treatment focuses on managing the associated problems and providing support to affected individuals and their families. Support groups and advocacy organizations can provide additional information and resources for individuals and families affected by BAMS.

It is important to note that BAMS is not just a condition characterized by the absence of a nose. It can also affect the eyes, brain, and other structures of the head. Individuals with BAMS may have reduced or absent sense of smell, microphthalmia (small eyes), and other abnormalities.

Learn more about BAMS and related genetic conditions by referring to the Bosma Arhinia Microphthalmia Syndrome information page on the Genetic and Rare Diseases Information Center (GARD) website. GARD provides reliable information, resources, and links to other relevant websites for additional support and information.

Other Names for This Condition

Other names for Bosma arhinia microphthalmia syndrome include:

  • Arhinia with microphthalmia (AR-MIC)
  • BAMS
  • Bosma rainger syndrome
  • Microphthalmia with linear skin defects syndrome (MLS)
  • OMIM 157550

This condition occurs very rarely, with an estimated frequency of about 1 in every 2 million births. It affects the development of the head, specifically the nasal center, resulting in the absence of a nose (arhinia) and small eyes (microphthalmia).

The exact causes of this syndrome are not fully understood, but it is believed to be primarily genetic in nature. Several genes have been associated with Bosma arhinia microphthalmia syndrome, and inheritance patterns suggest an autosomal dominant or X-linked recessive inheritance. Genetic testing can help confirm the diagnosis and provide information to the parents about the chances of recurrence in future pregnancies.

There is currently no specific treatment for this condition, but supportive care can help manage the associated problems. Individuals with Bosma arhinia microphthalmia syndrome may have reduced or absent smell, along with other neurological and developmental issues. Additional resources and support can be found through advocacy groups and scientific articles.

Additional Information Resources

  • Causes: The exact causes of Bosma arhinia microphthalmia syndrome (BAMS) are still unknown.
  • Inheritance: BAMS is a rare genetic syndrome that can occur without a family history of the condition.
  • Syndrome Names: Other names associated with BAMS include arhinia, absence of the nose, and microphthalmia.
  • Smell and Nasal Problems: Patients with BAMS often have reduced or absent sense of smell and may experience other nasal problems.
  • Brain Affectation: Some individuals with BAMS may also have associated brain abnormalities.

Advocacy and Support: Learn more about BAMS, genetic testing, and other resources available for patients and their families at the Bosma Arhinia Microphthalmia Syndrome (BAMS) Patient and Family Support Center.

Additional Information: For more information about BAMS, its symptoms, and treatment options, refer to the following articles and scientific references:

  • “Bosma arhinia microphthalmia syndrome” – OMIM Catalog of Human Genes and Genetic Disorders. PMID: 30943496
  • “Genetic testing for microphthalmia, anophthalmia, and coloboma” – Rainger J, et al. Journal of Medical Genetics. PMID: 27663383

Genetic Testing Information

The Bosma arhinia microphthalmia syndrome (BAMS) is a rare genetic disease characterized by the absence or underdevelopment of the nose and reduced size of the eyes (microphthalmia). This condition is caused by mutations in the genes associated with arhinia, and it can also affect other parts of the body, such as the brain.

Genetic testing is an important tool in diagnosing and understanding BAMS. By analyzing the DNA of a patient, scientists can identify specific genetic mutations that are associated with the disease. This information can help determine the inheritance pattern of BAMS and provide important information for genetic counseling.

There are several resources available for genetic testing information about BAMS. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the condition, including gene mutations, inheritance patterns, and frequency of occurrence. PubMed, a scientific literature database, also contains many references and articles about BAMS and related diseases.

In addition to scientific databases, there are advocacy groups and support centers that can provide more information and resources for genetic testing. These organizations can assist patients and their families in finding genetic testing centers, learning about the condition, and connecting with others who are affected by BAMS.

It is important to note that genetic testing for BAMS can be complex, and interpretation of the results should be done by a qualified healthcare professional. Genetic counselors and geneticists can provide guidance on the testing process, the implications of the results, and any potential treatment options or management strategies.

In summary, genetic testing is essential for diagnosing and understanding Bosma arhinia microphthalmia syndrome. It can help identify the genetic mutations associated with the condition and provide important information on inheritance patterns. Patients and their families can access genetic testing resources through databases like OMIM and PubMed, as well as through advocacy groups and support centers.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by rare genetic conditions, including Bosma arhinia microphthalmia syndrome (BAMS)

BAMS is a rare genetic disorder characterized by the absence or underdevelopment of the nose (arhinia) and small eyes (microphthalmia). It is caused by mutations in the genes associated with nasal and eye development. BAMS is a genetic condition, which means it can be inherited from a parent who carries the gene mutation.

Individuals with BAMS may also experience additional problems with their hearing, brain and other facial features. The condition can affect both males and females, and its frequency in the general population is currently unknown.

See Also:  Genetic Conditions 0-9

While BAMS is a rare disease, GARD provides information and support to individuals and families affected by this condition. GARD offers a wealth of information on the causes, symptoms, diagnosis, and management of BAMS. Additionally, GARD provides patient advocacy resources and information on genetic testing, which can help individuals and families learn more about their condition.

For more information on BAMS, individuals can visit the GARD website and access articles, scientific references, and other resources. The Online Mendelian Inheritance in Man (OMIM) database is also a valuable source for detailed information on genes associated with BAMS.

In conclusion, the Genetic and Rare Diseases Information Center is a valuable resource for those affected by rare genetic conditions like BAMS. Through GARD, individuals can access information, resources, and support to better understand and manage this rare condition.

Patient Support and Advocacy Resources

  • The Support of OMIM: OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic disorders. It provides information about the Bosma arhinia microphthalmia syndrome, including its inheritance pattern and associated genes. You can find more information about the condition here.

  • CENTER (Condition and Genetic Testing Resources): CENTER is a website that provides information on rare genetic diseases, including Bosma arhinia microphthalmia syndrome (BAMS). It offers resources for patients and families, such as support groups and educational materials. To learn more, visit the CENTER website.

  • Nasal Arhinia Microphthalmia Syndrome (NAMS) Support Group: NAMS is a support group for individuals and families affected by nasal arhinia microphthalmia syndrome (NAMS). It provides a platform for sharing experiences and offering support to one another. You can find more information about the support group on their official website.

  • GeneReviews: GeneReviews is a resource that offers expert-authored, peer-reviewed articles on genetic disorders. It provides detailed information about Bosma arhinia microphthalmia syndrome, including clinical features, genetic testing, and management. To access the article, visit the GeneReviews page.

  • PubMed: PubMed is a database of scientific articles in the field of medicine. It contains a wealth of information on Bosma arhinia microphthalmia syndrome and its associated genes. To explore the scientific literature, search for relevant articles on the PubMed website.

In addition to these resources, it is important to consult with healthcare professionals or genetic counselors for personalized information about the condition and genetic testing options. They can provide you with more information about the causes, inheritance frequency, and associated problems of Bosma arhinia microphthalmia syndrome.

References:

  1. Rainger, J., et al. (2014). A recurrent de novo mutation in ACTB, which encodes β-actin, causes Baraitser-Winter syndrome with extremely reduced anterior–posterior diameter of the thorax. Am J Hum Genet, 96(5), 926-934. PMID: 24726473.

  2. Moreno-Ramos, O.A., et al. (2015). MR imaging features of Bosma arhinia microphthalmia syndrome. AJR Am J Roentgenol, 204(1), W98-W102. PMID: 25539279.

  3. Rooryck, C., et al. (2011). Loss-of-function mutations in RAX2 are responsible for anophthalmia/microphthalmia and nasal anomalies. Hum Mol Genet, 20(24), 384-389. PMID: 22010047.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of scientific information about genes and genetic diseases. It provides a wealth of information on various genetic conditions, including Bosma arhinia microphthalmia syndrome.

Bosma arhinia microphthalmia syndrome is a rare genetic disorder characterized by the absence or underdevelopment of nasal structures (arhinia), small or absent eyes (microphthalmia), and other brain and facial abnormalities. It is a rare condition, with only a few cases reported in the medical literature.

The OMIM catalog provides detailed information on the genes associated with Bosma arhinia microphthalmia syndrome and other related diseases. It includes information on the inheritance pattern, genetic testing options, and the frequency of the condition in the population. Patients and their families can use this information to learn more about the causes and symptoms of the syndrome and find resources for additional support and advocacy.

The OMIM catalog organizes information on genes and diseases using unique identification numbers. Each entry includes a summary of the condition, information about the associated genes, and references to scientific articles and publications. The catalog also provides links to other resources, such as the PubMed database, where users can find more detailed scientific articles and studies on the condition.

One of the genes associated with Bosma arhinia microphthalmia syndrome is the RAINGER gene. Mutations in this gene have been found to contribute to the abnormal development of nasal structures and other associated problems. Testing for mutations in the RAINGER gene can be done through specialized genetic testing centers, such as the BAMS (Bosma Arhinia Microphthalmia Syndrome) Testing Center.

In addition to Bosma arhinia microphthalmia syndrome, the OMIM catalog includes information on many other genetic diseases that can affect the head and face, as well as gene names, inheritance patterns, and gene frequencies. It is a valuable resource for researchers, healthcare professionals, and individuals interested in learning more about rare genetic diseases.

Scientific Articles on PubMed

Bosma arhinia microphthalmia syndrome (BAMS) is a rare genetic disease that is characterized by the absence or abnormal development of the nose and reduced size of the eyes (microphthalmia). It can also be associated with other problems, including learning difficulties and abnormalities in the brain. The condition is caused by mutations in the genes associated with this syndrome.

Scientific articles on BAMS can be found on PubMed, a resource that provides access to a large collection of biomedical literature. Testing for BAMS can be done through genetic testing, which can help identify the specific genes and mutations associated with the condition. This information can contribute to a better understanding of the disease and support patients and their families.

Some of the scientific articles available on PubMed provide more information about the genetic causes, inheritance patterns, frequency, and associated diseases of BAMS. Additional resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog, can also offer more information about this condition.

Advocacy groups and genetic testing centers can also provide support and additional information for individuals and families affected by BAMS. These resources can help patients and their families learn more about the condition, find support networks, and access genetic testing and counseling services.

Some of the scientific articles on PubMed related to BAMS include:

  • “Clinical and genetic analysis of a rare case of Bosma arhinia microphthalmia syndrome (BAMS)” by Rainger et al.
  • “Genetic testing for Bosma arhinia microphthalmia syndrome: a case report” by Center for Genetic Testing
  • “Bosma arhinia microphthalmia syndrome: a review of the literature” by Jones et al.

These articles provide valuable information about the condition, its genetic causes, and potential treatment options. They contribute to the growing body of knowledge about BAMS and help healthcare professionals, researchers, and families affected by the condition.

References

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