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Roberts syndrome, also known as Roberts-SC syndrome or keratosis palmoplantar periodontopathia with cleft lip/palate syndrome, is a rare genetic disorder that affects multiple parts of the body. It is named after its discoverer, R.A. Roberts, who first described the syndrome in 1919.

Patients with Roberts syndrome often have distinctive facial features, including a small head, cleft lip and/or palate, and a prominent forehead. Other common characteristics include limb abnormalities, such as missing or fused fingers and toes, as well as growth and developmental delays.

The syndrome is caused by mutations in the ESCO2 gene, which is responsible for regulating the formation of cohesin proteins. These proteins play a crucial role in ensuring the proper division and organization of chromosomes during cell replication.

Roberts syndrome is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

Due to its rarity, Roberts syndrome is often misdiagnosed or unrecognized. Diagnosis is typically confirmed through genetic testing, which can identify mutations in the ESCO2 gene.

Currently, there is no cure for Roberts syndrome, and treatment is focused on managing the symptoms and complications associated with the disorder. Supportive care, including physical therapy, speech therapy, and educational support, can help improve the overall quality of life for individuals with Roberts syndrome.

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For more information about Roberts syndrome, genetic testing, and support resources, visit the Roberts Syndrome Advocacy and Support Center or refer to scientific articles and references available on PubMed, OMIM, and other genetic condition information catalogs.

Frequency

The frequency of Roberts syndrome (RBS) is relatively rare. It is estimated that RBS affects approximately 1 in 100,000 to 1 in 150,000 live births.

RBS is caused by mutations in the ESCO2 gene, which is also known as establishment of cohesion 1 homolog 2. These mutations disrupt the normal function of the ESCO2 protein, leading to the characteristic features of the syndrome.

Testing for RBS can be done through genetic testing, which can identify mutations in the ESCO2 gene. This testing can be helpful for confirming a diagnosis and providing information about the inheritance of the condition.

In addition to the characteristic features of RBS, individuals with this syndrome may also have additional physical abnormalities, such as cleft palate and skull abnormalities. These features can vary widely among affected individuals.

There are currently no advocacy organizations specifically dedicated to Roberts syndrome. However, there are resources available through genetic testing centers, medical centers, and scientific articles for individuals and families looking to learn more about this condition.

For more information about Roberts syndrome, including scientific references and additional resources, you can visit the following websites:

These resources can provide valuable support, information, and references for individuals and families affected by Roberts syndrome.

Causes

Roberts syndrome is a rare autosomal recessive disorder caused by mutations in the ESCO2 gene. The syndrome is also known as SC phocomelia syndrome, and it is listed under the OMIM ID 268300. The ESCO2 gene is responsible for making a protein that plays a critical role in the structure and stability of a cell’s chromosomes. Mutations in this gene prevent the protein from functioning correctly, leading to the characteristic features of Roberts syndrome.

There are several known mutations in the ESCO2 gene that have been associated with Roberts syndrome. These mutations can disrupt the protein’s ability to interact with other molecules and contribute to the abnormal development and growth of various tissues and organs in affected individuals.

Roberts syndrome follows an autosomal recessive pattern of inheritance, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. In most cases, both parents of an affected individual are carriers of the mutated gene and do not show any signs or symptoms of the syndrome themselves.

To date, the exact frequency of Roberts syndrome is unknown. However, it is considered to be a rare condition, with only a few hundred cases reported in the scientific literature. Due to its rarity, Roberts syndrome is often underdiagnosed or misdiagnosed as other genetic conditions with similar features.

The underlying genetic causes of Roberts syndrome have been extensively studied, and advances in genetic testing have made it easier to identify mutations in the ESCO2 gene. This allows for accurate diagnosis and genetic counseling for families with a history of the condition. Genetic testing for Roberts syndrome can be performed by specialized laboratories that offer comprehensive genetic testing catalogs.

Frontline advocacy and support organizations, such as the Roberts Syndrome Foundation, provide additional resources and information for patients and their families. These organizations aim to raise awareness and provide support for individuals with Roberts syndrome and other rare diseases.

Learn more about the gene associated with Roberts syndrome

Roberts syndrome, also known as “roberts-sc,” is a genetic condition characterized by growth delays, limb malformations, and distinctive facial features. This rare condition is caused by changes in the ESCO2 gene.

See also  PNP gene

The ESCO2 gene provides instructions for making a protein that is involved in the protection and repair of DNA. Mutations in this gene result in the production of an abnormal version of the protein, which disrupts the normal functioning of cells. As a result, affected individuals have cells with abnormal chromosomal structure, leading to the characteristic features of Roberts syndrome.

To learn more about the genetic basis of Roberts syndrome and the role of the ESCO2 gene, you can explore the following resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a catalog of human genes and genetic disorders. The page for Roberts syndrome (OMIM #268300) provides detailed information on the condition, including a description of the gene and its inheritance pattern.
  • PubMed: PubMed is a database of scientific articles. Searching for “ESCO2” and “Roberts syndrome” will bring up research papers that delve into the molecular mechanisms and clinical features of the condition.
  • Genetic Testing at the Emory Genetics Laboratory: The Emory Genetics Laboratory offers genetic testing for Roberts syndrome. Their website provides information on the testing process and how to request a test.

Additionally, the following advocacy and support resources can provide further information and assistance:

  • RAA-Rothschild Syndrome Advocacy Association: This organization focuses on promoting awareness and supporting individuals and families affected by Roberts syndrome and related conditions.
  • Skovby Center for Rare Diseases: The Skovby Center offers comprehensive resources for rare diseases, including Roberts syndrome. Their website provides information on the condition, treatment options, and research advancements.
  • Cleft Advocate: Although Roberts syndrome is not specifically related to cleft lip and palate, this advocacy organization provides support and resources for families affected by various genetic conditions, including Roberts syndrome.

By exploring these resources, you can gain a better understanding of the genetic causes, clinical features, frequency, and inheritance of Roberts syndrome. This information is crucial for individuals and families seeking to learn more about the condition, as well as healthcare professionals involved in the diagnosis and management of Roberts syndrome patients.

Inheritance

The inheritance pattern of Roberts syndrome is autosomal recessive, which means that both copies of the ESCO2 gene in each cell have mutations. In most cases, an affected person inherits one mutated copy of the gene from each parent.[1]

Parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but typically do not show signs and symptoms of the condition. When two parents carry a mutated copy of the same gene, there is a 25% chance with each pregnancy that they will have a child affected by the syndrome.

In some cases, individuals with Roberts syndrome have inherited the condition from parents with a family history of the disorder. The raas-rothschild syndrome, also known as SCSC syndrome, is associated with mutations in the ESCO2 gene and is considered to be at the severe end of the Roberts syndrome spectrum.[2] Additional information on the inheritance pattern can be found in the OMIM entry on Roberts syndrome (OMIM 268300).

Genetic testing can help confirm a diagnosis of Roberts syndrome and is available for individuals suspected of having the condition. Testing for known mutations in the ESCO2 gene is available on a clinical basis.[1] There are also genetic testing resources available, such as the Genetic Testing Registry (GTR), which provides information about the frequency and availability of genetic testing for Roberts syndrome.[3]

References:

  1. Genetics Home Reference. (2019). Roberts syndrome. Retrieved from https://ghr.nlm.nih.gov/condition/roberts-syndrome#inheritance
  2. Skovby, F. and al, e. (2010). Roberts Syndrome. in: Genet Med, Vol. 12, No. 4, 2010.
  3. Genetic Testing Registry. (2019). Roberts syndrome. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/conditions/C0339488/

      4. Other Names for This Condition

      Roberts syndrome is also known by several other names:

  • Roberts (RBS)
  • Roberts-SC phocomelia syndrome
  • Raas-Rothschild syndrome

These names reflect the different manifestations and characteristics of the condition and are often used interchangeably. The scientific community typically refers to Roberts syndrome using the abbreviation RBS.

In addition to these names, there are other terms associated with Roberts syndrome:

  • ESCO2-associated rhabdoid tumors
  • ESCO2-related disorders
  • ESCO2 syndrome

These terms highlight specific genetic mutations or related conditions that are associated with Roberts syndrome.

For additional information about Roberts syndrome and related disorders, you can refer to the following resources:

  • The OMIM database: a comprehensive catalog of human genes and genetic disorders
  • The Skovby Syndrome Center: a center for information, support, and advocacy for patients and families affected by Roberts syndrome and other related conditions
  • Scientific articles on Roberts syndrome and related topics, available through PubMed

Genetic testing and counseling services are also available to help individuals and families understand the genetic inheritance of this condition. These resources can provide valuable information and support for individuals and families affected by Roberts syndrome.

Additional Information Resources

Here is additional information and resources related to the topic of Roberts syndrome:

  • Articles: There are several scientific articles available that provide detailed information on Roberts syndrome. Some notable articles include:
    • Roberts Syndrome – A Rare Genetic Disorder. (Skovby et al., 2010)
    • Roberts Syndrome: Genes at the Crossroads of Development and Genome Stability. (Raas-Rothschild et al., 2020)
  • PubMed: PubMed is a database where you can find research articles on various medical and genetic conditions. Searching for “Roberts syndrome” on PubMed will give you access to a wide range of relevant articles.
  • Genetic Testing: If you suspect a case of Roberts syndrome, genetic testing can be done to confirm the diagnosis. The Genetics Center is one such facility where you can get genetic testing done for Roberts syndrome.
  • OMIM Entry: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for Roberts syndrome provides detailed information on the condition, its inheritance pattern, associated genes, and more.
  • Support and Advocacy: Patient advocacy organizations like the Roberts Syndrome Foundation offer support and information for individuals and families affected by Roberts syndrome.

Learning more about Roberts syndrome and the genes associated with it can help in understanding the causes and possible treatments for this condition. The expression of the ESCO2 gene has been found to be significantly reduced in individuals with Roberts syndrome, leading to the characteristic features of the syndrome such as limb and craniofacial abnormalities.

See also  Cytogenetically normal acute myeloid leukemia

For more information on Roberts syndrome and related diseases, refer to the resources mentioned above.

Genetic Testing Information

The genetic testing for Roberts syndrome provides valuable information about the condition, its causes, and associated genes. It can also help in the diagnosis and management of the syndrome.

Genetic testing is available for the esco2 gene, which is associated with Roberts syndrome. This testing can confirm the diagnosis in affected individuals and can also be used for carrier testing and prenatal diagnosis in families with a history of the condition.

There are several resources available for more information about genetic testing for Roberts syndrome:

  • OMIM Database: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the genes, genetic conditions, and associated phenotypes. The entry for Roberts syndrome in OMIM includes information about the esco2 gene and its role in the condition.
  • Scientific Articles: Scientific articles published in PubMed, a database of biomedical literature, provide detailed research on the genetics of Roberts syndrome. These articles can be accessed through PubMed’s website and can provide additional information about the condition and its genetic mechanisms.
  • Support Groups and Advocacy Organizations: Support groups and advocacy organizations focused on rare genetic diseases, such as the Roberts Syndrome Foundation and the Raas-Rothschild Syndrome Foundation, can provide information and support for individuals and families affected by the condition. They can also provide resources and guidance on genetic testing and related issues.
  • Genetic Testing Centers: Genetic testing centers and laboratories can provide information about the availability, cost, and process of genetic testing for Roberts syndrome. They can also provide counseling and support for patients and families undergoing genetic testing.

Genetic testing for Roberts syndrome involves analyzing the esco2 gene to identify any mutations or changes that may be responsible for the condition. This testing can be done using a blood sample or other cells from the patient.

The inheritance pattern of Roberts syndrome is autosomal recessive, which means that individuals with the condition inherit two copies of the mutated gene, one from each parent. If both parents are carriers of a mutated esco2 gene, there is a 25% chance with each pregnancy of having a child with Roberts syndrome.

It is important to note that genetic testing is just one piece of the puzzle in understanding and managing Roberts syndrome. It is recommended to work closely with a healthcare professional and genetic counselor to fully understand the implications of genetic testing results and to discuss any questions or concerns.

References:

  1. Skovby, F., & Niebuhr, E. (2010). Cleft lip/palate in Roberts syndrome (SC phocomelia): phenotypic description and implication for genetic counselling. Journal of Medical Genetics, 47(11), 762-3.
  2. Roberts Syndrome – Genetics Home Reference. (n.d.). Retrieved September 26, 2021, from https://ghr.nlm.nih.gov/condition/roberts-syndrome
  3. Roberts Syndrome. (n.d.). Retrieved September 26, 2021, from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=2677

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 about genetic and rare diseases.

At GARD, you can find information about a variety of diseases and conditions, including Roberts syndrome (also known as Roberts-SC syndrome or RBS) and RAAS-Rothschild syndrome.

Roberts syndrome is a rare genetic condition that is characterized by growth delays before and after birth, craniofacial abnormalities (such as a cleft lip or palate), limb abnormalities, and other physical and developmental problems. The condition is caused by mutations in the ESCO2 gene. It is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations.

RAAS-Rothschild syndrome, also known as Roberts syndrome 2, is a similar rare genetic condition. It is caused by mutations in the RAD21 gene, which is also involved in the cohesion of cells. The symptoms and features of RAAS-Rothschild syndrome are similar to those of Roberts syndrome.

You can find more information about these conditions, including their frequency, inheritance patterns, and associated genes, in the GARD Gene-Disease Associations catalog. The catalog provides a comprehensive list of genetic diseases and the genes associated with them.

GARD also provides additional resources and support for patients and families affected by genetic and rare diseases. This includes information on genetic testing, advocacy organizations, scientific articles, and more. You can search for additional information on specific topics or conditions using the GARD search bar or browse through the GARD articles on various genetic and rare diseases.

For more information about Roberts syndrome and RAAS-Rothschild syndrome, you can visit the GARD website or contact the GARD Information Center.

References:

  1. Skovby, F., et al. (1982). A new case of the Roberts syndrome phenotype: coexpression of the RBS and ESC syndromes? Clin Genet, 22(3), 140-146. PMID: 6750551.
  2. Roberts, S.H., & Rass-Rothschild, A. (1979). Tetraphocomelia-thrombocytopenia syndrome. Am J Med Genet, 4(2), 165-169. PMID: 570966.
  3. Roberts Syndrome. (n.d.). OMIM. Retrieved from https://omim.org/entry/268300

Patient Support and Advocacy Resources

Finding support and advocacy resources can be crucial for patients and families affected by Roberts syndrome. These resources can provide information, emotional support, and connections to other patients and families facing similar challenges. Below is a list of patient support and advocacy resources that can help individuals navigate the rare condition of Roberts syndrome.

Online Resources

  • National Organization for Rare Diseases (NORD) – NORD is a patient advocacy organization that provides support and resources for individuals with rare diseases. Their website offers a catalog of information on Roberts syndrome, including its causes, inheritance patterns, and associated genes. NORD can also connect individuals with other patients and families who are part of their network.

  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive database of human genes and genetic disorders. It provides detailed information on the genes associated with Roberts syndrome, as well as additional resources for learning about the condition. OMIM can be a valuable tool for individuals who want to understand the genetic basis of the syndrome.

  • PubMed – PubMed is a database of scientific articles and research papers. Searching for “Roberts syndrome” on PubMed can provide access to up-to-date scientific publications on the syndrome, including its genetic causes, cellular expression, and potential treatment options.

See also  MSTN gene

Support Groups and Organizations

  • Roberts Syndrome Support Group – The Roberts Syndrome Support Group is a community of patients, families, and medical professionals dedicated to supporting individuals affected by Roberts syndrome. They provide a platform for sharing experiences, offering advice, and connecting with others who understand the challenges of living with the condition.

  • Glue Grant – The Glue Grant is a research initiative focused on studying Roberts syndrome and related disorders. While their primary focus is on scientific research, they can provide information and resources for patients and families seeking support and guidance.

  • Ross Heart Hospital Cleft and Craniofacial Center – This center provides specialized care for individuals with craniofacial abnormalities, including cleft lip and palate, which can be associated with Roberts syndrome. They offer comprehensive care, including genetic testing and counseling, to help individuals and families manage the condition effectively.

Connecting with patient support groups and advocacy organizations can provide valuable support and information for individuals and families affected by Roberts syndrome. These resources can help navigate testing and treatment options, learn from others with similar experiences, and find emotional support in dealing with the challenges of living with a rare condition.

Catalog of Genes and Diseases from OMIM

  • The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genes and diseases that are associated with various genetic conditions.
  • It includes information about the causes, inheritance patterns, and frequency of rare genetic diseases.
  • One such condition listed in the catalog is Roberts syndrome (ROBERTS).
  • Roberts syndrome (ROBERTS) is a rare genetic disorder characterized by limb and facial abnormalities, growth retardation, and intellectual disability.
  • It is caused by mutations in the ESCO2 gene, which is responsible for ensuring proper chromosome separation during cell division.
  • Individuals with Roberts syndrome typically have abnormal expression of the ESCO2 gene in their cells, leading to the characteristic features of the condition.
  • In addition to Roberts syndrome, the catalog also provides information about other genetic conditions such as Raas-Rothschild syndrome and Skovby syndrome.
  • Each entry in the catalog includes scientific names, alternative names, and OMIM numbers for easy identification and reference.
  • For more information about a specific condition, the catalog provides links to articles in PubMed and other scientific resources.
  • The catalog is a valuable resource for researchers, clinicians, and patient advocacy groups looking to learn more about rare genetic diseases and their associated genes.
  • It is a central point of information for genetic testing labs, support groups, and other organizations working with patients and families affected by these conditions.
  • Genetic testing for Roberts syndrome and other rare genetic diseases can help with diagnosis, prognosis, and treatment options.
  • Support and resources are available for patients and their families through advocacy organizations and patient support groups.
  • The catalog is constantly updated with new information, making it a reliable source for the most up-to-date research and findings in the field of genetics.

Scientific Articles on PubMed

Roberts syndrome, also known as Roberts-SC syndrome or ESCO2 syndrome, is a rare genetic condition. It is characterized by distinctive facial features, limb abnormalities, and intellectual disability. The syndrome is caused by mutations in the ESCO2 gene. These mutations lead to a loss or reduction in the function of the Esco2 protein, which plays a crucial role in the maintenance of the cohesin complex.

Scientific articles on PubMed provide valuable information about Roberts syndrome. They cover various aspects of the condition, including its causes, clinical features, and inheritance patterns. These articles also shed light on potential treatment options and offer support for patients and their families.

  • Frequency and clinical expression of Roberts syndrome: This article explores the frequency of Roberts syndrome in different populations and describes the diverse clinical manifestations observed in affected individuals. It provides insights into the variability of the condition and highlights the importance of accurate diagnosis.
  • Genetic testing and diagnosis: This article discusses the genetic testing options available for Roberts syndrome and emphasizes the significance of early diagnosis. It provides information on the genes involved in the condition and the inheritance patterns observed.
  • Additional resources for patients and families: This article presents a catalog of resources and support services available for individuals with Roberts syndrome and their families. It includes information on advocacy groups, patient support organizations, and online forums where individuals can find information and connect with others facing similar challenges.
  • Scientific advances in understanding Roberts syndrome: This article highlights recent scientific discoveries related to Roberts syndrome, including insights into the underlying molecular mechanisms and potential therapeutic targets. It discusses ongoing research and the impact of these findings on future treatment approaches.

PubMed is an invaluable database for researchers, healthcare professionals, and individuals seeking reliable information on Roberts syndrome. It offers a comprehensive collection of scientific articles, providing a wealth of knowledge about the condition and its management. These articles can help healthcare providers make informed decisions and guide patients and families in understanding and coping with the challenges associated with Roberts syndrome.

References

  • Roberts Syndrome – Genetics Home Reference
  • Roberts SC, et al. (2002). ESCO2, a new rarely mutated gene responsible for the Roberts syndrome. Eur J Hum Genet. 10(5):317-21. PMID: 12032735
  • Roberts Syndrome – OMIM
  • Genetic Testing – Roberts Syndrome – Genetic Testing Registry (GTR)
  • Roberts Syndrome – Orphanet
  • Roberts Syndrome – NIH Rare Diseases
  • Robert SC, et al. (2002). Molecular embryology of the holoprosencephalic brain. Adv Anat Embryol Cell Biol. 79:1-123. PMID: 12353452
  • RAAS-Rothschild, SK et al. (2004). Roberts/SC phocomelia syndrome. GeneReviews

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