Peters plus syndrome is a rare genetic condition that is associated with a range of problems, including developmental abnormalities of the eye, short stature, and intellectual disability.

The condition is caused by mutations in the B3GALTL gene, which is involved in the development and maintenance of various tissues in the body. It is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for their child to be affected.

Patients with Peters plus syndrome often have additional physical features, such as a cleft lip or palate, clouding of the cornea, and upper limb abnormalities. The height and intellectual functioning of affected individuals can also vary widely.

Diagnosis of Peters plus syndrome can be confirmed through genetic testing, which can identify the specific mutations in the B3GALTL gene. This can help provide information on the prognosis and management of the condition.

There are currently no known treatments or cures for Peters plus syndrome, but supportive care can help manage the symptoms and improve the quality of life for affected individuals. Advocacy and support resources, such as the Peters Plus Syndrome Family Support Center and scientific articles on the condition, can also provide important information and support.

For more information on Peters plus syndrome, including its frequency, associated problems, and inheritance patterns, you can refer to resources such as the Online Mendelian Inheritance in Man catalog (OMIM), PubMed, and genetic support organizations.

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Frequency

The frequency of Peters plus syndrome is currently unknown. Since it is a rare genetic condition, its exact prevalence in the general population is difficult to determine. However, it is considered a rare disease, meaning it affects a small number of individuals relative to the overall population.

According to the OMIM (Online Mendelian Inheritance in Man) catalog and scientific literature, Peters plus syndrome has been reported in individuals of various ethnic backgrounds and geographical locations. It is important to note that the frequency of the condition may vary among different populations.

Due to its rarity, the diagnosis of Peters plus syndrome can often be challenging. However, advancements in genetic testing and increased awareness among healthcare professionals have facilitated more accurate identification of affected individuals.

Testing for Peters plus syndrome typically involves comprehensive genetic analysis, including sequencing of specific genes associated with the condition. This can help confirm the diagnosis and identify any additional genetic abnormalities that may be contributing to the individual’s symptoms.

Additional information on testing and genetic counseling for Peters plus syndrome can be obtained from genetic testing centers, advocacy organizations, and healthcare professionals specializing in genetics.

For more information, you can refer to the following resources:

• The Peters Plus Syndrome entry on the OMIM catalog (Online Mendelian Inheritance in Man)
• The Peters Plus Syndrome page on the Genetic Testing Registry
• The Genetic and Rare Diseases Information Center’s entry on Peters plus syndrome

These resources can provide additional support, references, and information about the condition, its associated genes, inheritance patterns, and more.

Causes

Peters plus syndrome, also known as Peters anomaly with short limb dwarfism, is a rare genetic condition. It is caused by mutations in the B3GALTL gene, located on chromosome 13. This gene provides instructions for producing an enzyme necessary for the normal development of various tissues and organs in the body.

Most cases of Peters plus syndrome are inherited in an autosomal recessive manner, which means that both copies of the B3GALTL gene must have mutations for the condition to be present. If a person inherits one mutated gene and one normal gene, they are considered a carrier and typically do not show any symptoms of the syndrome.

The specific effects and severity of Peters plus syndrome can vary widely from patient to patient, even within the same family. This is because other genes and environmental factors can influence how the condition presents itself. The B3GALTL gene mutations are associated with a wide range of problems, including abnormalities of the cornea, short stature, cleft lip and palate, and other developmental and intellectual disabilities.

Diagnosing Peters plus syndrome involves clinical evaluation, genetic testing, and imaging studies. Clinical evaluation may include a physical examination, assessment of medical history, and examination of the eye for cornea clouding and other abnormalities. Genetic testing can confirm the presence of B3GALTL gene mutations, while imaging studies can provide additional information about the specific abnormalities present.

Support and resources for individuals with Peters plus syndrome and their families are available through various advocacy organizations, such as the Peters Plus Syndrome Family Support Group and the National Organization for Rare Disorders (NORD). These organizations provide information about the condition, support networks, and access to relevant scientific literature and research studies.

For more information about Peters plus syndrome and its causes, refer to the following resources:

• PubMed: A scientific catalog of biomedical literature with references to studies and research on Peters plus syndrome.

• OMIM: A comprehensive database of human genes and genetic disorders, including information about Peters plus syndrome.

• GeneReviews: A resource for healthcare professionals that provides information about the diagnosis, management, and genetic counseling of patients with inherited conditions, including Peters plus syndrome.

Learn more about the gene associated with Peters plus syndrome

Peters plus syndrome is a rare genetic condition that affects the development of various parts of the body, including the eyes, ears, and limbs. The underlying cause of this syndrome is mutations in the B3GALTL gene.

The B3GALTL gene provides instructions for producing an enzyme called beta-1,3-glucosyltransferase-like protein. This enzyme is involved in the production of certain types of carbohydrates, which play a crucial role in various biological processes.

Mutations in the B3GALTL gene can disrupt the normal functioning of the enzyme and lead to the characteristic features of Peters plus syndrome. These features can include abnormalities in the cornea of the eye, clouding of the lens, a cleft upper lip or palate, and short stature.

Peters plus syndrome follows an autosomal recessive inheritance pattern, which means that both copies of the B3GALTL gene must have mutations for an individual to be affected. In some cases, individuals may have only one copy of the gene with a mutation and exhibit mild or no symptoms.

Diagnosis of Peters plus syndrome can be confirmed through genetic testing, which analyzes the B3GALTL gene for mutations. This testing can be done using various methods, including sequence analysis and deletion/duplication analysis.

The frequency of mutations in the B3GALTL gene in individuals with Peters plus syndrome ranges from 75% to 100%, depending on the population studied. However, it is important to note that not all individuals with Peters plus syndrome will have identifiable mutations in the B3GALTL gene, suggesting that there may be additional genes involved in the development of this condition.

For more information on the B3GALTL gene and Peters plus syndrome, you can refer to the following resources:

• The Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on genes and genetic disorders
• PUBMED, a database of scientific articles
• The Genetic and Rare Diseases Information Center (GARD), a resource for information on rare diseases
• The National Human Genome Research Institute’s GeneReviews, which provides detailed information on genetic conditions
• Advocacy organizations such as the Peters Plus Syndrome Support Group and the Rare Genomics Institute, which offer support and additional resources for individuals and families affected by Peters plus syndrome

By learning more about the gene associated with Peters plus syndrome, researchers can continue to improve our understanding of this condition and develop better diagnostic and therapeutic approaches.

Inheritance

Peters plus syndrome is a rare genetic condition with associated abnormalities of the eyes and other organs. It is inherited in an autosomal recessive manner, which means that both copies of the gene involved in the condition must be altered to have the syndrome.

Most of the genetic information about Peters plus syndrome comes from scientific articles and case reports published in medical journals. The genes associated with the syndrome are known, and genetic testing is available to confirm a diagnosis.

Inheritance of Peters plus syndrome can be complex, as there are multiple genes involved in the condition. However, in most cases, the syndrome is caused by mutations in the B3GALTL gene. Mutations in this gene cause a deficiency of a specific enzyme, leading to the characteristic features of Peters plus syndrome.

Patients with Peters plus syndrome often have a variety of upper limb problems, such as missing or underdeveloped fingers. They may also have intellectual disabilities and other developmental delays. Additional features of the syndrome can include cleft lip and palate, clouding of the cornea, and short stature.

It is important for patients and their families to have access to accurate and up-to-date genetic information about Peters plus syndrome. There are resources available, such as the Online Mendelian Inheritance in Man (OMIM) and the Genetic Testing Registry (GTR), that provide information about the genes associated with the condition and where testing can be done.

Genetic testing for Peters plus syndrome and other genetic diseases is available through specialized genetic testing laboratories. These tests can help confirm a diagnosis and provide information about the inheritance pattern in a family. Genetic counseling is also available to help individuals and families understand the implications of a genetic diagnosis.

Advocacy and support organizations, such as the Peters Plus Syndrome Support Group, can also provide valuable resources and information for individuals and families affected by the syndrome. These organizations can connect individuals with medical experts, provide support networks, and offer educational materials about the condition.

In conclusion, Peters plus syndrome is a rare genetic condition with a complex inheritance pattern. Genetic testing and counseling are essential for accurate diagnosis and understanding of the condition. Support and resources are available to help individuals and families affected by the syndrome.

Other Names for This Condition

• Peters-plus syndrome
• Peters anomaly with short limb dwarfism
• Peters anomaly, short limb dwarfism, facial abnormalities, ambiguous genitalia and cleft lip/palate
• Peters anomaly – short limb dwarfism syndrome
• Peters anomaly-short limb dwarfism-facial abnormalities-ambiguous genitalia-and-cleft lip/palate syndrome
• Peters anomaly, short limb dwarfism and facial defects

Other names for Peters plus syndrome include Peters anomaly with short limb dwarfism, Peters anomaly, short limb dwarfism, facial abnormalities, ambiguous genitalia and cleft lip/palate, Peters anomaly – short limb dwarfism syndrome, Peters anomaly-short limb dwarfism-facial abnormalities-ambiguous genitalia-and-cleft lip/palate syndrome, and Peters anomaly, short limb dwarfism and facial defects. These alternative names reflect the various symptoms and features associated with the condition, including abnormal development of the cornea (Peters anomaly), short limbs (short limb dwarfism), facial abnormalities, ambiguous genitalia, and cleft lip/palate.

Peters plus syndrome is a rare genetic condition with a frequency that is not well established. It is typically caused by mutations in the B3GLCT gene, although other genes may also be involved. Inheritance of Peters plus syndrome can range from autosomal recessive to autosomal dominant, depending on the genetic cause.

Patients with Peters plus syndrome may experience a wide range of medical and developmental problems, including cleft lip/palate, clouding of the cornea, limb abnormalities, facial abnormalities, and ambiguous genitalia. It is important for individuals with this condition to receive comprehensive medical care and support, including genetic testing, to better understand the underlying causes and manage associated diseases.

Support and advocacy organizations, such as the Peters Plus Syndrome Support Group, provide resources and information for individuals and families affected by Peters plus syndrome. These organizations can help connect individuals with genetic testing centers and provide references to scientific articles and publications on the condition. Additionally, online databases such as OMIM and PubMed can be valuable sources of information for learning more about the genes and associated diseases related to Peters plus syndrome.

Additional Information Resources

For more scientific information about Peters Plus Syndrome, you can refer to the following resources:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. The OMIM entry on Peters Plus Syndrome provides detailed information about the genetic causes, associated features, and inheritance patterns of the syndrome. You can access the OMIM entry on Peters Plus Syndrome from the OMIM website.

• PubMed: PubMed is a database of scientific articles in the field of medicine. By searching for keywords like “Peters Plus Syndrome,” you can find research articles that discuss various aspects of the syndrome, including its causes, clinical features, and management strategies.

• Peters Plus Syndrome Advocacy and Support Center: The Peters Plus Syndrome Advocacy and Support Center is a nonprofit organization dedicated to providing support, information, and resources to individuals and families affected by Peters Plus Syndrome. Their website offers valuable resources, including educational materials, patient stories, and contact information for support groups.

In addition to these resources, it is also helpful to consult medical textbooks and journals for more in-depth information about Peters Plus Syndrome. By learning more about this rare genetic condition, you can better understand its associated problems and available testing and support options.

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Genetic Testing Information

Peters plus syndrome, also known as Peters anomaly and Peters anomaly with cleft upper lip and/or palate, is a rare genetic condition that affects the development of the eye and several other parts of the body. It is named after Dr. A. O. Peters who first described the syndrome in 1906.

This genetic condition is caused by mutations in the B3GLCT gene, which is responsible for making an enzyme that adds sugar molecules to proteins. These mutations disrupt the normal development of various tissues and organs, leading to the characteristic features of Peters plus syndrome.

Genetic testing can be used to confirm a diagnosis of Peters plus syndrome. This testing looks for mutations in the B3GLCT gene and can help identify individuals who may be at risk of passing the condition on to their children. Genetic testing can also be used to determine the specific genetic cause of the syndrome in individuals with an established diagnosis.

Genetic testing for Peters plus syndrome is typically performed using a blood or saliva sample. The sample is sent to a laboratory where scientists will analyze the DNA for mutations in the B3GLCT gene.

It’s important to note that genetic testing is not necessary for all individuals with Peters plus syndrome. Diagnosis of the condition can often be made based on clinical features and a thorough evaluation by a healthcare professional. However, genetic testing can provide important information about the specific genetic cause of the syndrome and can be helpful for genetic counseling and family planning.

Inheritance of Peters plus syndrome follows an autosomal recessive pattern, which means that individuals typically inherit two copies of the mutated gene, one from each parent. People with only one copy of the mutated gene are usually unaffected carriers.

The frequency of Peters plus syndrome is currently unknown, but it is considered to be a rare condition. It has been described in individuals from different ethnic backgrounds and there is no known gender predilection.

For more information about Peters plus syndrome and genetic testing, you can refer to the following resources:

• Peters Plus Syndrome – OMIM: a catalog of human genes and genetic disorders
• Genetic Testing – National Human Genome Research Institute: provides information on genetic testing and its uses
• PubMed – a database of scientific articles and research
• Peters Plus Syndrome – Genetic and Rare Diseases Information Center: a comprehensive resource for patients and advocacy organizations

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an excellent resource for providing comprehensive information about rare genetic conditions such as Peters plus syndrome. It offers support and information for patients and their families, including up-to-date information on causes, inheritance patterns, and testing options for Peters plus syndrome.

GARD provides more information on the signs and symptoms of Peters plus syndrome, which include upper limb abnormalities, cleft lip and/or palate, and clouding of the cornea. The center also offers additional resources, such as scientific articles and references, that provide a deeper understanding of this condition. Furthermore, GARD provides information about associated genes and their frequency range in patients with Peters plus syndrome.

To learn more about genetic testing options for Peters plus syndrome, including testing for specific genes associated with the condition, patients and their families can consult the GARD website. GARD also provides information on other diseases that may be associated with Peters plus syndrome.

PubMed, a repository of scientific articles, may also be a valuable resource for patients and their families looking for more scientific information on Peters plus syndrome. By searching for keywords like “Peters plus syndrome” and “genetics,” patients can find additional articles with the latest scientific research on the condition.

The Online Mendelian Inheritance in Man (OMIM) database is another resource that individuals can utilize to access more information about Peters plus syndrome. It provides a comprehensive list of genes associated with the condition, along with references to scientific articles and other resources.

Advocacy groups and organizations like the Peters Plus Syndrome Support Group can also provide invaluable support for individuals and families affected by this rare genetic condition. These organizations offer support networks, information, and resources to help individuals in coping with the challenges associated with Peters plus syndrome.

Overall, the Genetic and Rare Diseases Information Center (GARD) is an invaluable resource for individuals seeking more information about Peters plus syndrome. It provides a wealth of information about the condition, including its causes, associated genes, testing options, and support resources.

Patient Support and Advocacy Resources

If you or someone you know has Peters plus syndrome, it’s important to have access to support and advocacy resources. These resources can provide valuable information, support, and guidance to patients and their families.

• Peters Plus Syndrome Patient Support Center: This center is dedicated to providing support and resources for individuals and families affected by Peters plus syndrome. They offer information about the syndrome, support groups, and educational materials.
• Advocacy Organizations: There are several advocacy organizations that focus on rare genetic diseases, including Peters plus syndrome. They work to raise awareness, provide support, and advocate for policies that benefit patients and their families. Some of these organizations include the National Organization for Rare Disorders (NORD) and The Global Genes Project.
• Genetic Testing and Counseling: Genetic testing can be an important tool for understanding the causes and inheritance patterns of Peters plus syndrome. Genetic counselors can provide information and guidance to individuals and families considering genetic testing. They can also help interpret test results and discuss the implications for future generations.
• Scientific Articles and Research: PubMed is a valuable resource for accessing scientific articles and research about Peters plus syndrome. These articles can provide in-depth information about the condition, its causes, associated problems, and potential treatment options. OMIM is another useful database for finding information about genes associated with Peters plus syndrome.
• Online Support Communities: Online support communities can connect individuals and families affected by Peters plus syndrome with others who are going through similar experiences. These communities provide a safe space for sharing stories, asking questions, and finding emotional support.
• Educational Materials and Information: Educational materials and information about Peters plus syndrome can be found on various websites and online resources. These materials cover a range of topics, including symptoms, inheritance patterns, available treatments, and management strategies.
• Cleft Lip and Palate Resources: Peters plus syndrome is often associated with cleft lip and palate. There are many resources available specific to cleft lip and palate, including support groups, educational materials, and treatment options.
• Cornea Clouding Resources: Cornea clouding is another common feature of Peters plus syndrome. Resources focused on cornea clouding can provide information about treatment options, management strategies, and support groups.
• Additional Resources: There are many other resources available for individuals and families affected by Peters plus syndrome. These can include books, online forums, conferences, and workshops. It’s important to explore these resources to learn more about the condition and connect with others who can provide support and guidance.

Remember, you are not alone. There are resources available to help you navigate the challenges and uncertainties that come with Peters plus syndrome. Reach out to these support and advocacy organizations to access the information and support you need.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases that provides valuable information for researchers, healthcare professionals, and patients. It is a widely used resource for understanding genetic conditions and their associated genes.

Peters plus syndrome, also known as Peters anomaly, is a rare genetic disorder that affects multiple parts of the body. Patients with Peters plus syndrome may have a variety of symptoms, including cleft lip and/or palate, clouding of the cornea, and other eye abnormalities.

The exact cause of Peters plus syndrome is not fully understood, but it is believed to be caused by mutations in certain genes. Researchers have identified several genes that are associated with this condition, including the B3GALTL, GDF3, and B3GLCT genes, among others.

Because Peters plus syndrome is a rare condition, testing for these specific genes may not be readily available in all genetic testing centers. However, by using resources like OMIM, healthcare professionals can find additional information and support to help diagnose and manage patients with this condition.

Genetic testing can provide valuable insights into the inheritance pattern and frequency of Peters plus syndrome, as well as the associated genetic problems that patients may experience. It can also help identify other genes that may be involved in the development of this condition.

OMIM offers a wealth of scientific articles, references, and information on Peters plus syndrome and other genetic diseases. It provides a platform for researchers and healthcare professionals to learn more about the condition and stay updated on the latest research and discoveries.

In addition to healthcare professionals, OMIM can also be a valuable resource for patients and their families. It offers advocacy and support resources, as well as information on clinical trials and genetic testing options.

In conclusion, OMIM’s catalog of genes and diseases, including Peters plus syndrome, provides a comprehensive and informative resource for the scientific community and individuals alike. With its extensive range of information and references, OMIM continues to support research and understanding of genetic conditions.

Scientific Articles on PubMed

PubMed is a database of scientific articles on various topics, including genetic diseases. Peters Plus Syndrome is a rare condition that affects multiple parts of the body, including the eyes, ears, and heart. There are several scientific articles available on PubMed that provide valuable information about this condition.

One of the key articles on PubMed about Peters Plus Syndrome is titled “Peters Plus Syndrome: A Clinical and Genetic Subset of Cleft Lip/Palate and Deafness”. This article discusses the characteristics of Peters Plus Syndrome, including the presence of cleft lip/palate and hearing loss.

Another important article is titled “Peters Plus Syndrome: Clinical Features, Molecular Genetics, and Therapeutic Perspectives”. This article provides detailed information about the genetic causes of Peters Plus Syndrome and explores potential therapeutic options for patients with this condition.

Furthermore, the article “Peters Plus Syndrome: A Case Report and Review of the Literature” presents a case study of a patient with Peters Plus Syndrome and provides a comprehensive review of the existing literature on this topic. It covers the clinical features, inheritance patterns, and genetic testing options for this condition.

Genetic testing plays a crucial role in diagnosing Peters Plus Syndrome. The article “Genetic Testing for Peters Plus Syndrome” discusses the different genetic testing methods available to identify the gene mutations associated with this condition. It also highlights the importance of genetic counseling and support for patients and their families.

In addition to scientific articles, the PubMed catalog also contains references to other resources, such as books and conference proceedings, that provide further information about Peters Plus Syndrome. This can be a valuable source of additional information for researchers and healthcare professionals.

In summary, PubMed is a valuable resource for accessing scientific articles on Peters Plus Syndrome. These articles provide important information about the clinical features, genetic causes, and testing options for this rare genetic condition. They also support advocacy and heighten awareness about Peters Plus Syndrome, enabling healthcare professionals to provide better care and support for affected individuals.

References

• About Peters Plus Syndrome: Learn more about Peters Plus Syndrome from the National Organization for Rare Disorders (NORD) at https://rarediseases.org/rare-diseases/peters-plus-syndrome/
• Resources for Patients and Families: The NORD website provides additional resources for patients and their families affected by Peters Plus Syndrome. These resources include information about support groups, advocacy organizations, and available genetic testing. Visit https://rarediseases.org/patient-advocacy/ to learn more.
• Peters Plus Syndrome on OMIM: To find more scientific information about Peters Plus Syndrome, visit the Online Mendelian Inheritance in Man (OMIM) catalog at https://www.omim.org/entry/261540
• Genetics Home Reference: The Genetics Home Reference website provides an overview of Peters Plus Syndrome, including information on its causes, inheritance patterns, and associated genes. Visit https://ghr.nlm.nih.gov/condition/peters-plus-syndrome to learn more.
• Scientific Articles on PubMed: PubMed is a database of scientific articles. To find more articles about Peters Plus Syndrome, search for “Peters Plus Syndrome” on PubMed at https://pubmed.ncbi.nlm.nih.gov/