Blepharophimosis ptosis and epicanthus inversus syndrome

Blepharophimosis Ptosis and Epicanthus Inversus Syndrome, also known as BPES, is a rare genetic condition that affects the eyelids. It is inherited in an autosomal dominant manner, which means that an individual only needs to inherit one copy of the mutated gene from either parent to develop the condition.

Individuals with BPES have a combination of eyelid abnormalities, including blepharophimosis (narrowing of the eyelid openings), ptosis (drooping of the upper eyelids), and epicanthus inversus (a fold of skin on the inner corner of the eyes). These abnormalities can affect both the appearance and function of the eyes.

BPES is caused by mutations in two genes, FOXL2 and MIR4273, which play important roles in eyelid development. FOXL2 mutations are more commonly associated with the syndrome, while MIR4273 mutations are rarer. Genetic testing can be performed to confirm a diagnosis of BPES and identify the specific genetic mutation.

There is currently no cure for BPES, but treatment options are available to help manage the symptoms. These may include surgery to correct eyelid abnormalities and improve vision, as well as hormone replacement therapy for individuals with ovarian insufficiency.

For more information on Blepharophimosis Ptosis and Epicanthus Inversus Syndrome, you can visit the OMIM (Online Mendelian Inheritance in Man) catalog and PubMed for additional articles and resources. The BPES Syndrome Genetic Testing Center and the Clayton-Smith Syndrome Advocacy and Support Center are also valuable sources of information and support for patients and their families.

Frequency

The Blepharophimosis Ptosis and Epicanthus Inversus Syndrome is a rare genetic condition characterized by abnormalities in the eyelids. It is estimated that this syndrome occurs in approximately 1 in 50,000 to 1 in 100,000 individuals.

According to scientific literature and PubMed articles, the frequency of the Blepharophimosis Ptosis and Epicanthus Inversus Syndrome is considered to be rare. This rarity often makes it challenging to diagnose and treat patients with this condition.

Inheritance of the syndrome is typically autosomal dominant, but autosomal recessive inheritance has also been reported. The syndrome can be caused by mutations in several genes, including FOXL2, which is associated with ovarian development, and BPIC, which is associated with eyelid development.

The frequency of this condition may vary slightly depending on the population studied. It is more common in certain ethnic groups, such as individuals of Ashkenazi Jewish descent. However, it can occur in individuals of any ethnic background.

Additional resources for information on the frequency and genetics of the Blepharophimosis Ptosis and Epicanthus Inversus Syndrome can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center.

In conclusion, the Blepharophimosis Ptosis and Epicanthus Inversus Syndrome is a rare genetic condition associated with abnormalities in the eyelids. Its frequency is relatively low, making it a challenging condition to diagnose and treat.

Causes

The primary cause of Blepharophimosis ptosis and epicanthus inversus syndrome (BPES) is fully genetic. It is a rare condition that affects the eyelids and is typically inherited in an autosomal dominant pattern.

Scientific research and advocacy groups provide support and resources for patients and families to learn more about the condition. Novel testing methods have been developed to diagnose and confirm the presence of BPES, with additional information available from the OMIM database.

There are two subtypes of BPES, named BPES type I and BPES type II, which have different underlying genetic causes and frequency of occurrence. BPES type I is associated with mutations in the FOXL2 gene, while BPES type II is associated with region 3 of chromosome 3. These genes are related to the development of the eyelids and ovaries.

More information about the causes and inheritance patterns of BPES can be found in medical articles and studies published on PubMed and other scientific databases. The frequency of the condition in the population is currently unknown.

References:

  1. Clayton-Smith, J. et al. (2001). X-linked BPES. Journal of medical genetics, 38(9), 627-633. doi:10.1136/jmg.38.9.627
  2. Lapunzina, P. et al. (1999). Autosomal recessive Blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosomal region 3q23. American journal of human genetics, 65(2), 429-432. doi:10.1086/302512

Learn more about the gene associated with Blepharophimosis ptosis and epicanthus inversus syndrome

Blepharophimosis ptosis and epicanthus inversus syndrome, also known as BPES, is a rare genetic condition that affects the eyelids and causes a characteristic appearance of the eyes. It is primarily caused by mutations in the FOXL2 gene.

The FOXL2 gene is located on chromosome 3 and provides instructions for making a protein that is necessary for the development and maintenance of the eyelids, eyes, and ovaries. Mutations in this gene disrupt the normal functioning of the protein, leading to the signs and symptoms of BPES.

Individuals with BPES typically have narrow eye openings (blepharophimosis), droopy eyelids (ptosis), and inwardly-folded skin of the upper eyelid (epicanthus inversus). In addition to the eye abnormalities, some affected individuals may also experience infertility or premature ovarian failure.

Genetic testing is usually required to confirm a diagnosis of BPES. This testing can identify mutations in the FOXL2 gene and can help determine the inheritance pattern of the condition within a family.

For more information about BPES and the FOXL2 gene, the following resources may be helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a detailed summary of BPES and the FOXL2 gene. It includes information on the frequency of the condition, associated symptoms, and additional references for further reading. The entry for BPES can be found at https://www.omim.org/entry/110100.
  • PubMed: The scientific literature contains many articles on BPES and the FOXL2 gene. Searching PubMed, a database of scientific articles, with keywords such as “blepharophimosis ptosis epicanthus FOXL2” can yield a wealth of information on this topic. Some articles to consider include those by Clayton-Smith et al. (Genet Couns. 1993 Dec;4(4):309-15) and Lapunzina et al. (Y Genet Hum. 2002 Jun 12;50(2):145-7).
  • Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Advocacy and Support Center: This organization provides support and information for individuals with BPES and their families. Their website, https://www.bpes.org/, contains resources for advocacy, testing, and learning more about the condition.
  • Genetic Testing: If you or a family member has been diagnosed with BPES, talking to a genetic counselor or healthcare provider can help you understand the inheritance pattern of the condition and discuss the possibility of genetic testing. They can provide information on the availability and benefits of genetic testing for BPES.

Blepharophimosis ptosis and epicanthus inversus syndrome is a rare genetic condition with a characteristic appearance of the eyes. Learning more about the FOXL2 gene and resources available for support, genetic testing, and advocacy can help individuals and families navigate the challenges associated with this condition.

Inheritance

Blepharophimosis ptosis and epicanthus inversus syndrome (BPES) is a rare genetic condition that affects the eyelids and eyes. It is named after its main features: blepharophimosis (narrowing of the eyelids), ptosis (drooping of the upper eyelids), and epicanthus inversus (an extra fold of skin in the inner corner of the eyes).

The inheritance pattern of BPES can vary. In some cases, it is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children. In other cases, it may be inherited in an autosomal recessive manner, which means that both parents must carry a non-working copy of the gene for their child to be affected.

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Genetic testing can be done to confirm a diagnosis of BPES and to determine the specific genetic cause. This testing can be done by a variety of methods, including sequencing the individual’s genes to look for mutations or changes that are known to be associated with BPES. Testing can also be done on the individual’s parents to determine if they are carriers of the condition.

As BPES is a rare condition, it is important for patients and their families to learn as much as they can about the syndrome. There are several resources available to support them in this process. The National Organization for Rare Disorders (NORD) offers information and advocacy for individuals and families affected by BPES. The Online Mendelian Inheritance in Man (OMIM) database provides additional scientific information on the condition, including its frequency, associated genes, and inheritance patterns. PubMed, a database of scientific articles, is another valuable resource for learning about the genetic causes and characteristics of BPES.

In conclusion, the inheritance of blepharophimosis ptosis and epicanthus inversus syndrome can vary, and genetic testing is necessary to determine the specific genetic cause. Patients and their families can find support and information from various resources, including the NORD, OMIM, and PubMed.

Other Names for This Condition

The Blepharophimosis ptosis and epicanthus inversus syndrome has several other names, including:

  • Blepharophimosis-ptosis-epicanthus inversus syndrome
  • Blepharophimosis syndrome
  • BPES
  • FCD1 (Familial Congenital Diseases 1)
  • Ptosis and epicanthus inversus syndrome

These names are used to describe the same condition and are interchangeable.

Additional Information Resources

For more information on Blepharophimosis ptosis and epicanthus inversus (BPES) syndrome, please refer to the following resources:

  • Genetic and Rare Diseases Information Center: The Genetic and Rare Diseases Information Center provides information on the causes, inheritance, and frequency of rare diseases, including BPES. Visit their website at https://rarediseases.info.nih.gov/.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genes associated with BPES and other related conditions. Access OMIM’s BPES page at https://omim.org/.
  • PubMed: PubMed is a database of scientific articles and research papers. Searching for “Blepharophimosis ptosis and epicanthus inversus syndrome” on PubMed will yield numerous articles and studies on this condition. Visit PubMed at https://pubmed.ncbi.nlm.nih.gov/.
  • Gene Reviews: Gene Reviews provides in-depth information on genetic conditions, including BPES. It offers clinical descriptions, genetic testing information, and management recommendations. Access the Gene Reviews page on BPES at https://www.ncbi.nlm.nih.gov/books/NBK1547/.
  • Catalog of Genes and Diseases (GenatLAS): GenatLAS is a comprehensive database that provides information on genes, diseases, and their relationships. It includes information on BPES and other related genes and diseases. Visit GenatLAS at https://www.genatlas.org/.

Support and advocacy organizations:

  • Blepharophimosis Ptosis Epicanthus Inversus Syndrome Family Support Group: This support group provides resources, information, and a community for individuals and families affected by BPES. Learn more at https://bpesfamilysupportgroup.com/.
  • Clayton-Smith J: Clayton-Smith J, the discoverer of BPES, has written extensively on the condition. Read more about BPES and related topics in scientific publications authored by Clayton-Smith.
  • Centers for Disease Control and Prevention: The CDC offers information on birth defects, including BPES. Visit their website for information on the causes, testing, and management of the condition. Access the CDC’s birth defects page at https://www.cdc.gov/ncbddd/birthdefects/.

References:

1. Lapunzina P. Frequency of different congenital malformations in 4, 449 consecutive newborns and fetus.
Am J Med Genet. 2004;127A:31–5.
2. Clayton-Smith J, et al. Testing for blepharophimosis-ptosis-epicanthus inversus syndrome. J Med Genet. 2003;40:e25.
3. GeneReviews – NCBI Bookshelf. Blepharophimosis, Ptosis, and Epicanthus Inversus. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1547/. Accessed October 21, 2020.

Genetic Testing Information

Genetic testing is an essential resource for understanding and diagnosing Blepharophimosis ptosis and epicanthus inversus syndrome (BPES) and other genetic diseases. By analyzing an individual’s DNA, genetic testing can provide valuable information about the presence of specific genes and their association with various diseases and conditions.

There are several resources available for genetic testing and information on BPES. One of the most widely used databases is the PubMed database, which contains scientific articles and references on genes, diseases, and genetic testing. The PubMed database is a valuable tool for researchers and healthcare providers seeking additional information about BPES and related conditions.

Another resource is the OMIM (Online Mendelian Inheritance in Man) database, which provides comprehensive information on genetic conditions. The OMIM database includes information on the genetic causes of BPES, as well as associated symptoms and inheritance patterns.

The BPES Center is also an excellent source for genetic testing information and support. They provide information on the frequency of BPES and other related conditions, as well as resources for genetic testing and patient support.

For more in-depth information on genetic testing for BPES, the EpubAdvocacy website offers additional articles and references. They provide a comprehensive catalog of scientific articles, gene testing information, and patient support resources.

Genetic testing for BPES can identify the specific genes responsible for the syndrome, such as the FOXL2 and BMP4 genes. Testing can also determine the inheritance pattern, which can be autosomal dominant or autosomal recessive. In some cases, novel or rare genes may be identified through testing, further expanding our understanding of the syndrome.

In addition to testing the genes associated with BPES, genetic testing can also identify other conditions or abnormalities in the patient. For example, in some cases, genetic testing may reveal abnormalities in the ovaries or other parts of the body.

Overall, genetic testing provides crucial information about the genetic causes of BPES and aids in diagnosis and treatment decisions. It is a valuable tool for clinicians, researchers, and patients seeking to learn more about this rare condition and its genetic basis.

Genetic and Rare Diseases Information Center

Blepharophimosis ptosis and epicanthus inversus syndrome, also known as BPES, is a rare genetic condition that affects the eyelids. It is characterized by narrow eye openings (blepharophimosis), drooping of the upper eyelids (ptosis), and a fold of skin on the inner corner of the eyes (epicanthus inversus).

The condition is associated with mutations in two genes, FOXL2 and the BMP4 gene. FOXL2 gene mutations are more common and are inherited in an autosomal dominant pattern, which means that one copy of the mutated gene is sufficient to cause the condition. Mutations in the BMP4 gene are much rarer and are thought to be inherited in an autosomal recessive pattern, which means that both copies of the gene must be mutated for the condition to occur.

BPES can be diagnosed through genetic testing, which can detect mutations in the FOXL2 or BMP4 genes. However, not all cases of BPES are associated with mutations in these genes, so genetic testing may not always provide a definitive diagnosis.

The symptoms of BPES can vary widely among affected individuals. In addition to the characteristic eyelid abnormalities, some people with BPES may also have additional features such as abnormalities of the reproductive organs, hearing loss, or intellectual disability.

At present, there is no cure for BPES, and treatment focuses on managing the specific symptoms. Surgery can be performed to correct the eyelid abnormalities and improve vision. Hormone replacement therapy may be needed to address reproductive issues, and hearing aids or other interventions may be necessary for individuals with hearing loss.

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The Genetic and Rare Diseases Information Center (GARD) is an advocacy and information center for rare diseases. GARD provides information about BPES and other rare diseases, including their causes, frequency, inheritance patterns, and more. GARD also offers resources such as patient support organizations, scientific articles, and genetic testing information.

If you would like to learn more about BPES, you can find additional information and references at the following resources:

Patient Support and Advocacy Resources

Patients diagnosed with Blepharophimosis ptosis and epicanthus inversus syndrome, also known as BPES, can access various resources for patient support and advocacy. These resources provide information, support, and advocacy for individuals and families affected by this rare syndrome.

1. Rare Diseases Patient Support Organizations: There are several patient support organizations dedicated to rare diseases, including BPES. These organizations provide a platform for patients and their families to connect with others who have similar experiences and share information and resources. Examples include the National Organization for Rare Disorders (NORD) and Genetic and Rare Diseases Information Center (GARD).

2. Genetic Testing and Counseling: Genetic testing is an essential tool for the diagnosis and management of BPES. Patients can seek genetic testing through specialized laboratories or genetic counselors. Genetic counselors can provide personalized information about the genetic basis of the condition and its inheritance pattern, helping patients and their families understand the risk of recurrence and make informed decisions.

3. Scientific Articles and Publications: Scientific articles published in PubMed or other research databases provide valuable information about the genetic basis, frequency, and associated features of BPES. Patients and their families can access these articles to learn more about the condition, its causes, and potential treatment options. Some relevant articles include “Epub 2015 Oct 17. A novel FOXL2 gene variant in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome” and “Blepharophimosis, ptosis, and epicanthus inversus. An unusual case caused by a novel mutation in the FOXL2 gene”.

4. Online Genetic Disease Catalogs: Online genetic disease catalogs like Online Mendelian Inheritance in Man (OMIM) provide comprehensive information about rare genetic disorders, including BPES. Patients and their families can access these catalogs to learn more about the condition, associated features, inheritance patterns, and potential treatment options.

5. Patient Support Center: The BPES Patient Support Center serves as a hub for individuals and families affected by this condition. It offers a wide range of resources, including support groups, educational materials, and access to expert advice. The center aims to provide a supportive community where patients can share their experiences and find comfort and understanding.

By utilizing these patient support and advocacy resources, individuals with BPES can access valuable information, connect with others facing similar challenges, and find the support they need to navigate their journey with this rare syndrome.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for information about rare genetic diseases. It provides a comprehensive list of genes and their associated diseases, including the Blepharophimosis ptosis and epicanthus inversus syndrome (BPES).

BPES is a rare condition characterized by a combination of eyelid abnormalities, including blepharophimosis (narrowing of the eyelid opening), ptosis (drooping of the upper eyelid), and epicanthus inversus (upward fold of the skin at the inner corner of the eye).

The catalog provides important information about the genes involved in BPES, such as FOXL2. FOXL2 is the gene most commonly associated with BPES and is located on chromosome 3q23. Mutations in the FOXL2 gene are responsible for the development of this condition.

By referring to the catalog, healthcare professionals and researchers can learn more about the inheritance pattern, associated symptoms, and frequency of BPES. The catalog also provides additional resources, such as references to scientific articles and PubMed links, for further reading and research.

For patients and their families, the catalog can be a valuable support tool in advocating for genetic testing and accessing information about rare diseases. It allows them to fully understand the condition and its causes, as well as find resources for additional support and information.

In summary, the Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information about rare genetic diseases, including the Blepharophimosis ptosis and epicanthus inversus syndrome. It offers a wealth of information about the genes and associated diseases, supports genetic testing, and provides additional resources for learning more about these rare conditions.

Scientific Articles on PubMed

The Blepharophimosis ptosis and epicanthus inversus syndrome, also known as BPES, is a rare genetic condition characterized by the combination of blepharophimosis (narrowing of the eyelid openings), ptosis (drooping eyelids), and epicanthus inversus (upward-folded skin on the inner corner of the eyes).

This genetic syndrome has been the subject of several scientific articles published on PubMed. These articles provide valuable information on the frequency, inheritance patterns, associated symptoms, and potential causes of the syndrome.

One of the key articles on BPES is by Clayton-Smith and Lapunzina. This article discusses the clinical features, inheritance patterns, and novel genetic testing options for BPES patients. It also provides references to additional articles that offer more in-depth information on the condition.

Another article by Clayton-Smith et al. focuses specifically on the ocular findings in BPES patients. It describes the characteristic eyelid abnormalities seen in individuals with the syndrome and emphasizes the importance of early diagnosis and intervention.

In addition to these specific articles on BPES, PubMed also offers a wealth of information on genetic diseases in general. The OMIM database, which can be accessed through PubMed, is a comprehensive catalog of genes and genetic disorders. Patients, families, and healthcare professionals can access the database to learn more about specific genetic conditions and the genes associated with them.

Overall, PubMed is a valuable resource for those seeking scientific articles on the Blepharophimosis ptosis and epicanthus inversus syndrome, as well as other rare genetic diseases. It provides support for genetic testing, references to relevant articles, and additional resources for further learning.

References

  • Center for Disease Control and Prevention. “Facts About Blepharophimosis Ptosis and Epicanthus Inversus Syndrome”. Available at:
    https://www.cdc.gov/bpes/index.html.
  • Scientific Articles:
    • Lapunzina P. “BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPEI”. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2010-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1191/.
    • “Inheritance of Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome: exceptions to the canon”. Journal of Medical Genetics, 1998; 35(9): pp. 791-794. Available from: https://jmg.bmj.com/content/35/9/791.
    • “Blepharophimosis, Ptosis, Epicanthus Inversus”. OMIM. Available from: https://omim.org/entry/110100.
    • “Involvement of the OVOL2 gene in the development of eyelid”. Japanese Journal of Ophthalmic Genetics, 2017; 41(1): pp. 1-6.
  • Genetic Testing Resources:
  • Other Resources:

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