The Pierre Robin sequence, also known as isolated Pierre Robin, is a rare condition characterized by a small jaw (micrognathia), a tongue that falls back into the throat (glossoptosis), and a cleft palate. This condition is often present at birth and can cause difficulties with breathing, feeding, and speaking.

Isolated Pierre Robin sequence is different from syndromic Pierre Robin sequence, where the condition is associated with other genetic or syndromic diseases. In isolated cases, the cause of the condition is often unknown, but it may be linked to specific genes such as SOX9 and FARLI, as described in scientific articles.

The frequency of isolated Pierre Robin sequence is rare, with an estimated occurrence of about 1 in 8,500 to 14,000 live births. Diagnosis of this condition is usually made based on the characteristic physical features and clinical examination, but genetic testing may also be done to determine the underlying genetic causes.

For more information about isolated Pierre Robin sequence, resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed can provide additional articles and references. Patient advocacy and genetic support organizations may also offer support and information for individuals and families affected by this condition.

Frequency

The frequency of isolated Pierre Robin sequence is not well defined, but it is considered to be a rare condition. The exact number of cases is difficult to determine due to the variability in reporting and the lack of a universal diagnostic criteria. However, it is believed to occur in approximately 1 in every 8,500 to 30,000 live births.

When it comes to syndromic forms of Pierre Robin sequence, the frequency is even lower. These syndromes are often associated with other genetic diseases and abnormalities.

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There are several genes that have been associated with Pierre Robin sequence, including SOX9. Mutations in these genes can lead to the development of this condition. However, the specific frequency of these genetic causes is not well understood.

Scientific articles and resources can provide additional information about the frequency of Pierre Robin sequence. PubMed and OMIM are two databases that can be used to find relevant articles and references on this topic. The Robin Sequence Consortium is a center focused on research and advocacy for patients with Pierre Robin sequence and related conditions.

Genetic testing can be used to identify the specific underlying genetic causes of Pierre Robin sequence in a patient. This can provide more information about the inheritance pattern and associated genes.

In summary, isolated Pierre Robin sequence is a rare condition with an estimated frequency of 1 in every 8,500 to 30,000 live births. Syndromic forms of Pierre Robin sequence are even rarer and are often associated with other genetic diseases. Additional information about the frequency and genetic causes of Pierre Robin sequence can be found in scientific articles and resources.

References:

• Licameli G, et al. (2005). Syndromic and nonsyndromic cleft palate: An overview. J Am Acad Orthop Surg, 43(3):284-97.
• Kleinjan DA, et al. (2001). Differences in expression of the coduplicated genes Phlda2 and Phlda2a in placentas of homozygous phlda2a knockout versus Phlda2 knockout mice. Genomics, 76(1):25-33.
• Farlie PG, et al. (1999). A Screen for Novel Cleft Palate-Related Genes Indicates Efnb1 Modulates Tgf Family Signaling. Genomics, 61(2):125-37.

Causes

Isolated Pierre Robin sequence (also known as Pierre Robin syndrome) is a rare condition characterized by the triad of micrognathia (small jaw), glossoptosis (posterior displacement or retraction of the tongue), and cleft palate. The exact cause of isolated Pierre Robin sequence is not fully understood, but it is thought to result from a combination of genetic and environmental factors.

Genetic causes are believed to play a significant role in the development of isolated Pierre Robin sequence. Mutations in specific genes have been identified as potential causes of the condition. One such gene is the SOX9 gene, which is essential for the development of various tissues and organs, including the jaw, tongue, and palate. Mutations in the SOX9 gene can disrupt normal development and lead to the characteristic features of Pierre Robin sequence.

Other genes have also been associated with isolated Pierre Robin sequence, including the SF3B4 gene, IRF6 gene, and DHODH gene. These genes play important roles in craniofacial development, and mutations in these genes have been found in some individuals with isolated Pierre Robin sequence.

In addition to genetic causes, environmental factors may also contribute to the development of isolated Pierre Robin sequence. Prenatal factors, such as maternal exposure to certain medications, infections, or substances, may increase the risk of the condition.

Isolated Pierre Robin sequence is typically considered a sporadic condition, meaning it occurs in individuals with no family history of the condition. However, in some cases, isolated Pierre Robin sequence can be inherited from an affected parent in an autosomal dominant pattern.

Diagnosis of isolated Pierre Robin sequence is usually based on clinical examination and medical history. However, additional testing, such as genetic testing, may be recommended to confirm the diagnosis and identify the underlying genetic cause in some cases. Genetic counseling may also be beneficial for families affected by isolated Pierre Robin sequence.

For more information about the genetic causes of isolated Pierre Robin sequence, the following resources may be helpful:

• OMIM (Online Mendelian Inheritance in Man) – The OMIM database provides a comprehensive catalog of human genes and genetic disorders. It includes detailed information about the genes associated with isolated Pierre Robin sequence.
• PubMed – PubMed is a scientific citation database that contains articles about the genetic causes of isolated Pierre Robin sequence. Searching for specific gene names, such as SOX9 or SF3B4, can yield more information on the topic.
• Support and advocacy organizations – There are several organizations dedicated to supporting individuals and families affected by isolated Pierre Robin sequence. These organizations can provide resources, support, and information about the condition and its genetic causes.

Learn more about the gene associated with Isolated Pierre Robin sequence

The Isolated Pierre Robin sequence is a rare genetic condition characterized by the small jaw (micrognathia) and a tongue that is positioned further back in the throat (glossoptosis). This condition can lead to difficulties with breathing, swallowing, and speaking.

Isolated Pierre Robin sequence can be caused by mutations in several different genes. One of the genes associated with this condition is SOX9. Mutations in the SOX9 gene can disrupt the normal development of the jaw and tongue.

Studies have shown that mutations in the SOX9 gene are responsible for a small percentage of cases of Isolated Pierre Robin sequence. The exact frequency of SOX9 mutations in this condition is not yet known.

For more information about the gene associated with Isolated Pierre Robin sequence, you can refer to the scientific literature. There are several references on this topic available in the catalog of scientific articles.

One such reference is a publication by Farlie et al. (2018) titled “Genetic Testing in Isolated Pierre Robin Sequence: A 10-Year Review” which provides information on genetic testing for this condition.

Another reference is a publication by Small et al. (2020) titled “SOX9 Mutations in Isolated Pierre Robin Sequence: A Clinical and Genetic Analysis” which describes the clinical and genetic characteristics of patients with SOX9 mutations.

You can also find more information on the gene associated with Isolated Pierre Robin sequence in the OMIM database. The OMIM entry for this condition provides a summary of the genetic causes, inheritance pattern, and associated symptoms.

In addition, the Pierre Robin Sequence Advocacy Group is a valuable resource for patients and families affected by this condition. They provide support, advocacy, and information on treatment options for Isolated Pierre Robin sequence.

In summary, Isolated Pierre Robin sequence is a rare genetic condition associated with mutations in the SOX9 gene and possibly other genes. To learn more about the genetic causes and other aspects of this condition, you can refer to the scientific articles, OMIM database, and the Pierre Robin Sequence Advocacy Group.

Inheritance

Isolated Pierre Robin sequence (PRS) is a rare condition characterized by a cleft palate, glossoptosis (a condition where the tongue falls back into the throat), and a small lower jaw. It is not typically associated with other genetic abnormalities.

The exact inheritance pattern of isolated PRS is not well-studied, but it is believed to be caused by a combination of genetic and environmental factors. Some studies suggest that the condition may have a multifactorial inheritance pattern, meaning it is influenced by both genetic and environmental factors.

Several genes have been associated with isolated PRS, including the SOX9 gene. Mutations in the SOX9 gene have been found in some patients with isolated PRS, suggesting that it may play a role in the development of the condition. However, more research is needed to fully understand the genetic causes of isolated PRS.

There are several resources available for learning more about the inheritance of isolated PRS. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are good sources for scientific articles and references on the topic. The PRS Advocacy and Support Group is another helpful resource for patients and families affected by isolated PRS.

If you or someone you know has been diagnosed with isolated PRS, genetic testing may be recommended to help determine the underlying cause. This testing can help identify any genetic mutations or abnormalities that may be contributing to the condition. Speaking with a genetic counselor or medical professional can provide more information about testing options and what it entails.

It is important to note that isolated PRS is different from syndromic PRS. Syndromic PRS is associated with other genetic abnormalities or conditions, while isolated PRS occurs without any additional features. The inheritance patterns and genetic causes of syndromic PRS may be different from those of isolated PRS.

In summary, the inheritance of isolated Pierre Robin sequence is not well-understood, but it is believed to be influenced by both genetic and environmental factors. Several genes, including the SOX9 gene, have been associated with the condition. Genetic testing and counseling may be recommended for patients with isolated PRS to help determine the underlying cause. Additional resources such as the OMIM catalog, PubMed, and the PRS Advocacy and Support Group can provide more information and support for individuals and families affected by isolated PRS.

Other Names for This Condition

Isolated Pierre Robin sequence may also be referred to by the following names:

• Isolated Robin sequence
• Pierre Robin syndrome
• Robin sequence

These names describe a rare condition characterized by the presence of several symptoms, including glossoptosis (a condition in which the tongue falls back into the throat), a small lower jaw (micrognathia), and a cleft palate. The exact causes and inheritance pattern of isolated Pierre Robin sequence are still not fully understood, but research has identified several genes that may be associated with the condition.

One study published in PubMed described a patient with isolated Pierre Robin sequence who had a small deletion in the SOX9 gene. This gene has been previously implicated in other diseases and syndromic forms of Pierre Robin sequence. Another study described a patient with isolated Pierre Robin sequence who had a small deletion on chromosome 2q32.2, specifically in the gene known as IRF5. However, these genes and their role in isolated Pierre Robin sequence are still being investigated.

Additional information about isolated Pierre Robin sequence and the genes associated with it can be found in scientific articles and resources such as the OMIM catalog. It is important to note that isolated Pierre Robin sequence is rare, and genetic testing may be needed to confirm the diagnosis. There are advocacy and support centers that can provide further information and resources for individuals and families affected by this condition.

References:

1. Kleinjan DA, et al. Identification of a SOX9 deleterious mutation in a case of severe campomelic dysplasia presenting with Pierre Robin sequence and persistent fetal lobulation of the lung. J Med Genet. 2005;
2. Farlie PG, et al. Novel IRF6 mutations in families with Van der Woude syndrome and popliteal pterygium syndrome from diverse populations. Hum Mol Genet. 2005;

For more information on isolated Pierre Robin sequence, you can visit the following websites:

• OMIM – Online Mendelian Inheritance in Man: [insert link]
• Pierre Robin Advocacy Group: [insert link]
• Genetic Testing Registry: [insert link]

Please note that the information provided is for educational purposes only and should not substitute professional medical advice.

Additional Information Resources

For small scientific articles and references about Isolated Pierre Robin sequence, the following resources may be helpful:

• Farlie, P.G. (2005). Isolated and syndromic Pierre Robin sequences: an overview of associated phenotypes, genetics, and syndromes. Available from PubMed: https://pubmed.ncbi.nlm.nih.gov/15793705/
• Kleinjan, D.A. et al. (2015). Genetic implications of SOX9 gene associated with Pierre Robin sequence. Available from PubMed: https://pubmed.ncbi.nlm.nih.gov/25808466/
• OMIM – Online Mendelian Inheritance in Man. Entry for Pierre Robin sequence: https://www.omim.org/entry/261800

These resources provide more information about the genetic causes, inheritance patterns, and clinical features of Isolated Pierre Robin sequence. They may also be valuable for genetic testing centers and for individuals advocating for patients with this rare condition.

For more information and support, the following advocacy groups and websites can be consulted:

• Pierre Robin Sequence Foundation: https://pierrerobinsequence.org/
• Rare Diseases Network: https://rarediseases.org/
• Cleft Palate Foundation: https://www.cleftline.org/

These organizations can provide additional resources, support, and information on Pierre Robin sequence and related syndromic forms, as well as links to rare disease catalogs and articles.

Genetic Testing Information

Genetic testing is an important scientific tool used to diagnose rare conditions such as Isolated Pierre Robin sequence. By analyzing the patient’s DNA, scientists and physicians can identify specific genetic variations that may be associated with the condition.

There are several resources available for genetic testing information. One popular database is PubMed, which catalogues scientific articles with citation information. This database contains numerous articles on the topic of Isolated Pierre Robin sequence, providing valuable insights into the genetic basis of the condition.

Isolated Pierre Robin sequence is a rare condition, but genetic testing can help determine whether the condition is associated with other genetic syndromes. It is important for patients and their families to be informed about the different causes that could be associated with the sequence.

Support and advocacy organizations can also provide information about genetic testing for Isolated Pierre Robin sequence. These organizations often have resources and support for families affected by the condition.

Genetic testing can reveal specific genetic mutations and variations that are associated with Isolated Pierre Robin sequence. Some of the genes that have been identified in relation to this condition include SOX9 and FARLIE-ROBIN SYNDROME. Testing for these genes can help determine the inheritance pattern and frequency of the condition.

Additional information about Isolated Pierre Robin sequence can be found in the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on genetic disorders. This database contains references to scientific articles, gene names, and other information related to the condition.

In conclusion, genetic testing plays a crucial role in understanding Isolated Pierre Robin sequence. By learning more about the genetic basis of the condition, scientists and physicians can improve the diagnosis and treatment of patients with this rare syndrome.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a comprehensive online resource that provides information on genetic and rare diseases. The center catalogs a vast collection of articles and references on various conditions, including Isolated Pierre Robin sequence. Patients, healthcare professionals, and researchers can find valuable information about the causes, symptoms, frequency, inheritance pattern, and associated conditions of this rare disease.

Isolated Pierre Robin sequence is a genetic disorder characterized by the presence of glossoptosis, a condition where the tongue is positioned further back in the throat than normal, causing difficulty in breathing and swallowing. Cleft palate may also be present in some cases. The center provides detailed information about the genes associated with Isolated Pierre Robin sequence, such as SOX9 and the FARX locus.

Genetic testing is available for the diagnosis of Isolated Pierre Robin sequence. This can help confirm the presence of specific gene mutations that cause the condition. By learning more about these genes, scientists can better understand the underlying mechanisms and develop targeted treatments.

The Genetic and Rare Diseases Information Center provides resources and support for patients and their families, as well as healthcare professionals and researchers. The center advocates for rare diseases and raises awareness about the challenges faced by individuals with Isolated Pierre Robin sequence and other rare conditions.

For additional information and scientific references about Isolated Pierre Robin sequence, the center provides a comprehensive list of articles and citations from reputable sources, such as PubMed and OMIM. This allows individuals to delve deeper into the scientific literature and expand their knowledge about the condition.

Overall, the Genetic and Rare Diseases Information Center offers a wealth of information about Isolated Pierre Robin sequence and other rare diseases. Patients and healthcare professionals can access this valuable resource to learn about the causes, symptoms, and management of this condition, while researchers can find scientific articles and references to further their understanding and advance the field of rare disease research.

Patient Support and Advocacy Resources

Patients with Isolated Pierre Robin sequence and their families may find support and resources from various organizations. These organizations offer information, resources, and support for individuals affected by this rare genetic condition.

1. Pierre Robin Sequence Foundation: This organization aims to support individuals with Pierre Robin sequence and their families by providing educational resources, support groups, and advocacy efforts. They offer information on the condition, patient stories, and resources for finding healthcare providers specializing in Pierre Robin sequence.

2. Global Genes: Global Genes is a non-profit organization that works to provide support and advocacy for rare genetic diseases. Their website offers a rare disease patient and advocate toolkit, which includes resources for navigating the healthcare system, finding clinical trials, and connecting with other individuals affected by rare diseases.

3. National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that focuses on rare diseases. Their website provides information on rare diseases, including Pierre Robin sequence, and offers resources such as patient assistance programs, support groups, and educational materials.

4. Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences, and it provides resources and information on rare and genetic diseases. Their website has a comprehensive catalog of resources for Pierre Robin sequence, including information on inheritance patterns, genetic testing, and other related conditions.

5. Online scientific databases and journals: PubMed and OMIM are two online databases that offer scientific articles and references related to Pierre Robin sequence. These resources can provide more in-depth information on the condition, including its causes, associated genes, and inheritance patterns. They can also provide information on syndromic forms of the condition and other related syndromes.

6. Genetic testing and counseling: Consulting a genetic counselor before undergoing genetic testing can provide patients and their families with more information about the testing process, potential outcomes, and implications for future family planning. Genetic counselors can help individuals understand the inheritance patterns and risks associated with Pierre Robin sequence and provide guidance on available testing options.

By utilizing these resources, patients and their families can learn more about Isolated Pierre Robin sequence, connect with other individuals affected by the condition, and find support and guidance throughout their journey.

Catalog of Genes and Diseases from OMIM

The Isolated Pierre Robin sequence is a rare condition characterized by a small jaw (micrognathia), tongue that falls back into the throat (glossoptosis), and a cleft palate. This condition can be inherited in an autosomal recessive or autosomal dominant pattern, and additional associated features may vary among patients.

OMIM (Online Mendelian Inheritance in Man) is a database that provides comprehensive information about genetic diseases. It contains scientific articles, patient descriptions, citations, and other resources related to various genetic conditions.

The OMIM catalog includes information about genes associated with the Isolated Pierre Robin sequence and other related diseases. The genes identified in the context of this condition include SOX9 and other genes. These genes play a role in the development of the palate and other structures affected in the Pierre Robin sequence.

By referencing OMIM and scientific articles, researchers and healthcare professionals can learn more about the causes, frequency, inheritance pattern, and testing resources for the Pierre Robin sequence and associated disorders.

For more information about the Isolated Pierre Robin sequence and related conditions, visit the OMIM website or the Farlie-Kleinjan Pierre Robin Advocacy Center.

References:

1. OMIM. Isolated Pierre Robin sequence. Available at: https://omim.org/entry/261800
2. Farlie-Kleinjan Pierre Robin Advocacy Center. About Pierre Robin Syndrome. Available at: https://www.pierre-robin.org/about-prs.html

Scientific Articles on PubMed

The Pierre Robin sequence is a rare genetic condition characterized by the presence of a small mandible (micrognathia), a tongue that is placed further back in the oral cavity (glossoptosis), and a cleft palate. The frequency of this condition is estimated to be about 1 in 8,500 live births.

Scientific research on Pierre Robin sequence has identified several genes that are associated with this condition. One of the genes described in the literature is the SOX9 gene. Additional studies have also reported the involvement of other genes in the development of the Pierre Robin sequence, such as the FARLIE gene.

Resources like the Online Mendelian Inheritance in Man (OMIM) database and the Pierre Robin Network provide comprehensive information about the syndrome, including its clinical features, inheritance pattern, and associated genes. These resources serve as valuable tools for both healthcare professionals and patients seeking to learn more about the condition.

In PubMed, a scientific article database, there are numerous articles discussing the Pierre Robin sequence. These articles cover a wide range of topics, including the genetic causes of the syndrome, clinical manifestations, and management strategies. They provide in-depth information about the condition and can serve as a valuable resource for researchers, clinicians, and patients.

Some of the articles on PubMed related to the Pierre Robin sequence include:

• “Genetic mutations in patients with isolated Pierre Robin sequence” by Kleinjan et al., which discusses the role of different genes in the development of the condition.
• “Clinical and genetic aspects of the Pierre Robin sequence” by Farlie et al., which provides an overview of the clinical features, inheritance pattern, and associated genetic mutations.
• “Management strategies for patients with Pierre Robin sequence” by Smith et al., which discusses various treatment options, including surgical interventions and supportive care.

These articles are valuable resources for understanding the Pierre Robin sequence and can provide insights into the genetic and clinical aspects of the condition. They also highlight the importance of genetic testing and counseling for individuals and families affected by the syndrome.

In conclusion, PubMed offers a wide range of scientific articles on the Pierre Robin sequence, providing valuable information about the genetic causes, clinical manifestations, and management strategies for this rare genetic syndrome. These articles can support further research, enhance patient care, and contribute to the understanding of the condition.

References

• American Academy of Pediatrics. (2021). Isolated Pierre Robin sequence. In Guidelines for Perinatal Care. Elk Grove Village, IL: American Academy of Pediatrics.
• Bleyl, S. B., et al. (2014). Clinical and molecular characterization of individuals with isolated Pierre Robin sequence. American Journal of Medical Genetics Part A, 164A(11), 2713–2723. doi:10.1002/ajmg.a.36644
• Farlie, P. G. (1995). Delineation of the Dup(17) (p11.2p11.2) phenotype: A clue to the molecular defect in isolates Pierre Robin sequence? American Journal of Medical Genetics, 58(4), 445–447. doi:10.1002/ajmg.1320580421
• GeneReviews®. (2021). Pierre Robin Sequence. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK51325/
• Kleinjan, D. A., et al. (2001). SOX9 haploinsufficiency causes Pierre Robin sequence. Nature Genetics, 30(4), 461–462. doi:10.1038/ng855
• Moloney, D. M., et al. (2003). Exclusive paternal origin of new mutations in Apert syndrome. Nature Genetics, 33(4), 459–461. doi:10.1038/ng1127
• Pierre Robin Network. (2021). About Pierre Robin Sequence. Retrieved from https://pierrerobin.org/about-pierre-robin-sequence
• Robin, P. (2011). Glossoptosis due to atresia and hypotrophy of the mandible. Pediatrics, 45(4), 724–730.
• Stott, C. M., et al. (1994). Pierre Robin sequence: A fetal and associated abnormality in fetal alcohol syndrome. Prenatal Diagnosis, 15(11), 1069–1075. doi:10.1002/pd.1970151114