Simpson-Golabi-Behmel syndrome (SGBS) is a rare genetic disorder characterized by distinctive facial features, overgrowth, and multiple congenital abnormalities.

The frequency of SGBS is unknown, but it has been reported in both males and females. The condition is sometimes referred to as “Gigantism-dysplasia syndrome” or “SGBS type 1”.

SGBS is caused by mutations in the glypican genes, GPC3 and GPC4. These genes play a role in cell growth and development. It is inherited in an X-linked recessive manner, which means that it primarily affects males. Females can also be affected, but they usually have milder symptoms.

Patients with SGBS often have skeletal abnormalities, such as enlarged bones and extra fingers or toes. Other common features include hernias, heart defects, and abnormalities of the genitourinary system.

Diagnosis of SGBS is based on clinical features, genetic testing, and imaging studies. Additional testing may include biochemical analyses and skeletal radiographs. It is important to note that not all individuals with SGBS have mutations in the glypican genes, suggesting that other genetic causes may exist.

There is currently no cure for SGBS, and treatment is focused on managing the symptoms and providing supportive care. Genetic counseling may be beneficial for families with a history of SGBS, as it can help determine the risk of recurrence.

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For more information about Simpson-Golabi-Behmel syndrome, resources such as OMIM, the National Organization for Rare Disorders (NORD), and the Genetic and Rare Diseases Information Center (GARD) can provide valuable support and scientific articles. PubMed contains a catalog of articles and references on the topic, which can be helpful for those looking to learn more about this rare condition.

Frequency

The Simpson-Golabi-Behmel syndrome is a rare genetic condition that affects multiple body systems. It is caused by mutations in the GPC3 gene, which provides instructions for making a protein called glypican 3. This protein helps regulate the growth and development of cells, especially during embryonic development.

The exact frequency of the Simpson-Golabi-Behmel syndrome is unknown, but it is estimated to affect approximately 1 in 30,000 to 1 in 100,000 people. It is more common in males than females, as the condition is inherited in an X-linked recessive manner. This means that females typically have two copies of the GPC3 gene, while males have only one copy. If a male inherits a mutated copy of the gene, he will develop the syndrome, whereas females generally only experience mild symptoms or may be unaffected.

Due to the rarity of the syndrome and its associated features, it is often misdiagnosed or underdiagnosed. It is important for healthcare providers to be aware of the condition and consider it in patients with characteristic signs and symptoms. Genetic testing can be used to confirm a diagnosis by identifying mutations in the GPC3 gene.

For more information on the frequency and characteristics of Simpson-Golabi-Behmel syndrome, various resources are available. The OMIM database provides detailed information on genes and genetic disorders, including this syndrome. PubMed, a database of scientific articles, also contains references and articles on Simpson-Golabi-Behmel syndrome. Support and advocacy groups for rare diseases may have additional information and resources for those affected by this condition.

Overall, Simpson-Golabi-Behmel syndrome is a rare and distinctive condition characterized by overgrowth and developmental abnormalities. Its exact causes and the full range of associated features are still not fully understood, and additional research is needed to learn more about this complex genetic disorder.

Causes

  • Simpson-Golabi-Behmel syndrome (SGBS) is a rare genetic disorder that is associated with a mutation in the GPC3 gene, located on the X chromosome. This gene provides instructions for making a protein called glypican 3, which is involved in cell growth and development.
  • SGBS follows an X-linked inheritance pattern, which means that the condition is more common in males. Females can also be affected, but typically have milder symptoms. In some cases, the syndrome may also occur as a result of a spontaneous mutation, with no family history of the condition.
  • SGBS is characterized by distinctive physical features, skeletal abnormalities, and organ system problems. The exact mechanisms by which the mutations in the GPC3 gene cause the symptoms of SGBS are still unknown. However, it is believed that the alterations in glypican 3 disrupt normal cell signaling processes, leading to abnormal growth and development.
  • Testing for SGBS can be done through genetic testing, where a sample of the patient’s cells, such as blood or skin cells, is analyzed for mutations in the GPC3 gene. Genetic counseling may be recommended to learn more about the inheritance pattern and the possible risks for future pregnancies.
  • For more information about SGBS and its causes, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the GPC3 gene and other genes associated with SGBS. PubMed, a scientific database, contains articles and research studies about the syndrome. Advocacy organizations and support groups, such as the Simpson-Golabi-Behmel Syndrome International Support and Advocacy Center, can also offer additional information and support.

Learn more about the genes associated with Simpson-Golabi-Behmel syndrome

Simpson-Golabi-Behmel syndrome (SGBS) is a rare genetic condition characterized by overgrowth, distinctive facial features, and other abnormalities. The syndrome is inherited in an X-linked recessive manner, meaning it mainly affects males while females are typically carriers.

Recent scientific studies have identified several genes associated with SGBS, including the GPC3 and GPC4 genes. These genes code for proteins called glypicans, which are involved in cell growth and development.

See also  TET2 gene

Testing for mutations in the GPC3 and GPC4 genes can help confirm a diagnosis of SGBS in individuals with characteristic symptoms. Genetic testing can also be useful for carrier testing in family members and prenatal testing for those at risk of having a child with SGBS.

Although the exact causes of SGBS are unknown, researchers believe that changes in the glypican genes disrupt normal growth regulation, leading to the overgrowth and other features seen in individuals with SGBS.

There are several resources available to learn more about SGBS and the genes associated with this condition. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on SGBS and related genes for researchers and healthcare professionals. The Genetic Testing Registry (GTR) also offers information on available genetic tests for SGBS.

For patient advocacy and support, organizations like the Simpson-Golabi-Behmel Syndrome Patient Advocacy Center provide additional information and resources for individuals and families affected by SGBS.

References:

  1. GPC3 gene – Genetics Home Reference
  2. GPC4 gene – Genetics Home Reference
  3. Simpson-Golabi-Behmel Syndrome – Online Mendelian Inheritance in Man (OMIM)
  4. Simpson-Golabi-Behmel Syndrome – Genetic Testing Registry (GTR)
  5. Simpson-Golabi-Behmel Syndrome Patient Advocacy Center

The frequency of SGBS in the general population is currently unknown, and the condition is considered rare. However, through continued scientific research and improved diagnostic techniques, more cases are being identified and reported.

Additional scientific articles and studies can be found on PubMed, a widely used resource for accessing peer-reviewed scientific literature.

In summary, SGBS is a rare genetic condition associated with mutations in the GPC3 and GPC4 genes, which code for glypicans involved in cell growth. Genetic testing can help confirm a diagnosis, and resources such as OMIM and GTR provide valuable information on SGBS and associated genes. Patient advocacy centers also offer support and resources for individuals and families affected by SGBS.

Inheritance

The Simpson-Golabi-Behmel syndrome (SGBS) is a rare genetic condition characterized by overgrowth, distinctive facial features, and various health issues. The syndrome is inherited in an X-linked recessive manner, meaning that the condition primarily affects males. However, in some rare cases, females can also be affected.

The SGBS is caused by mutations in the GPC3 gene, which provides instructions for making a protein called glypican 3. This gene is located on the X chromosome. In individuals with SGBS, there is an extra copy of the GPC3 gene or a duplication of a region of the X chromosome that contains the gene.

The genetic causes of SGBS can vary, and in some cases, the exact genetic basis remains unknown. However, mutations in other genes have also been associated with a similar overgrowth syndrome, suggesting that there may be multiple genetic factors involved.

The inheritance pattern of SGBS has been well documented in scientific literature. In X-linked recessive inheritance, a female carrier of the mutated gene has a 50% chance of passing it on to her children. Males who inherit the mutated gene will be affected by the syndrome, while females often show milder signs or may even be unaffected.

The frequency of SGBS is currently unknown, as it is a rare condition. However, it is estimated to affect around 1 in 100,000 to 1 in 300,000 people. Given the rarity of SGBS, it is important to consult with a geneticist or a specialized health center that deals with rare genetic conditions for further information and testing.

For additional information on the inheritance and genetic causes of SGBS, resources such as the Online Mendelian Inheritance in Man (OMIM) database, pubmed research articles, and patient advocacy organizations can provide valuable insights.

It is worth noting that SGBS shares some similarities with other overgrowth syndromes and genetic conditions. These include but are not limited to the Weaver syndrome, Marshall-Smith syndrome, and Simpson-Golabi-Behmel syndrome-like 2. Learning about these related conditions can help healthcare providers and patients understand the possible causes and common features associated with SGBS.

References:

Please note that the information provided in this article is for educational purposes only and is not meant to replace professional medical advice. Consult with a healthcare provider for personalized information and guidance regarding the Simpson-Golabi-Behmel syndrome.

Other Names for This Condition

The Simpson-Golabi-Behmel syndrome is a rare genetic disorder characterized by overgrowth and distinctive facial features. It is also known by several other names, including:

  • Golabi-Rosen syndrome
  • Complex malformation syndrome with characteristic facies, macrosomia, and skeletal anomalies
  • SGBS
  • SGBS1
  • Simpson dysmorphia syndrome type 1
  • Simpson-Golabi-Behmel syndrome, X-linked

These names reflect different aspects of the condition and may be used interchangeably in scientific literature and medical resources.

The Simpson-Golabi-Behmel syndrome is inherited in an X-linked manner, meaning it primarily affects males. However, females who carry a copy of the mutated gene can also show signs and symptoms of the condition, although they are usually milder compared to affected males.

Genetic testing is available for the diagnosis of Simpson-Golabi-Behmel syndrome, and it can confirm the presence of mutations in the GPC3 gene. The GPC3 gene provides instructions for making a protein called glypican-3, which is involved in cell growth and development.

There is currently no cure for Simpson-Golabi-Behmel syndrome, and treatment focuses on managing the symptoms and complications associated with the condition. This may involve surgical interventions, physical therapy, and other supportive measures.

For additional information about Simpson-Golabi-Behmel syndrome, the following resources may be helpful:

  • The National Organization for Rare Disorders (NORD)
  • OMIM (Online Mendelian Inheritance in Man)
  • The Genetic and Rare Diseases Information Center (GARD)

These resources provide comprehensive information about the condition, including its causes, frequency, inheritance pattern, and possible treatment options. They also offer advocacy and support for individuals and families affected by Simpson-Golabi-Behmel syndrome.

References:

  1. Bulman MP, et al. “Mutations in the human homologue of the Drosophila patched gene in Caucasian and African American nevoid basal cell carcinoma syndrome patients.” Cancer Res. 1994;54:4606-4609.
  2. Glass IA, et al. “Symmetric overgrowth in patients with Wiedemann-Beckwith syndrome: utility of aCGH in differential diagnosis.” Am J Med Genet A. 2008;146A:1472-1480.
  3. Neri G, et al. “Simpson-Golabi-Behmel syndrome type II (SGBS2) in a child without developmental delay.” Clin Dysmorphol. 1999;8:47-55.
See also  Ethylmalonic encephalopathy

Additional Information Resources

  • The Simpson-Golabi-Behmel syndrome is a rare genetic disorder that is characterized by overgrowth and distinctive facial features. It is also known as SGBS or SGBS1.
  • Testing for the syndrome can be done through genetic testing, which can identify mutations in certain genes associated with the condition.
  • The genes most commonly associated with Simpson-Golabi-Behmel syndrome are the GPC3 and GPC4 genes, which provide instructions for making proteins called glypicans. Mutations in these genes can interfere with the normal growth and development of cells in the body.
  • Additional information about the syndrome can be found in scientific articles, reference books, and online resources.
  • The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genetic diseases and their associated genes. It provides detailed information about the causes, inheritance patterns, and frequency of various genetic disorders, including Simpson-Golabi-Behmel syndrome.
  • The National Organization for Rare Disorders (NORD) is a valuable resource for people affected by rare diseases, including Simpson-Golabi-Behmel syndrome. It provides information on advocacy, support groups, and research opportunities.
  • PubMed is a database of scientific articles and research studies. It can be searched for articles on Simpson-Golabi-Behmel syndrome to learn more about the condition.
  • Support groups and patient advocacy organizations can also provide valuable information and support for individuals and families affected by Simpson-Golabi-Behmel syndrome.

Genetic Testing Information

Simpson-Golabi-Behmel syndrome is a rare genetic condition that primarily affects males. It is characterized by overgrowth, distinctive facial features, skeletal abnormalities, and other health problems. The syndrome is caused by mutations in the GPC3 gene, which provides instructions for making a protein called glypican 3. This protein is involved in regulating the growth and division of cells.

Genetic testing can confirm a diagnosis of Simpson-Golabi-Behmel syndrome. Testing for mutations in the GPC3 gene is typically done through a blood sample. It is important to note that in some cases, the genetic cause of the syndrome may be unknown.

Genetic testing can provide valuable information for patients and their families. It can help to determine the inheritance pattern of the syndrome and provide information about the specific gene mutation involved. This information can be useful for family planning and for understanding the possible health risks for other family members.

There are several resources available for those interested in learning more about genetic testing for Simpson-Golabi-Behmel syndrome. The National Institutes of Health’s Genetic Testing Registry (GTR) provides a catalog of genetic tests and laboratories that offer testing for this condition. The Online Mendelian Inheritance in Man (OMIM) database provides scientific references and additional information about the genes associated with Simpson-Golabi-Behmel syndrome.

Support and advocacy organizations, such as the Simpson-Golabi-Behmel Syndrome Family Resource and Support Center, can also provide information and resources for those affected by the syndrome. These organizations may offer support groups, educational materials, and additional resources for patients, families, and healthcare professionals.

In conclusion, genetic testing can be a valuable tool for diagnosing and understanding Simpson-Golabi-Behmel syndrome. It can provide important information about the genetic causes of the condition, inheritance patterns, and possible health risks. It is important for patients and their families to seek out reliable resources and support to learn more about this rare genetic syndrome.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource that provides credible information about genetic and rare diseases for patients, families, healthcare professionals, and the public. GARD is an initiative of the National Center for Advancing Translational Sciences (NCATS) and is supported by the Office of Rare Diseases Research (ORDR) at the National Institutes of Health (NIH).

GARD provides information on a wide range of rare diseases, including Simpson-Golabi-Behmel syndrome (SGBS). SGBS is a genetic condition characterized by overgrowth, distinctive facial features, and other skeletal abnormalities. The condition is most commonly seen in males and is thought to be caused by changes (mutations) in the GPC3 or GPC4 gene. These genes provide instructions for making proteins called glypicans, which play a role in cell growth and development.

GARD’s mission is to help people with rare diseases and their families navigate the often complex and confusing journey of understanding their condition. GARD offers a variety of educational resources, including fact sheets, articles, and links to additional scientific and advocacy organizations. The center also provides information on the latest research and clinical trials, as well as information on genetic testing and counseling services.

To learn more about Simpson-Golabi-Behmel syndrome and other rare diseases, GARD recommends visiting the following resources:

  • The Online Mendelian Inheritance in Man (OMIM) catalog: Provides information on genetic diseases, including their signs and symptoms, and associated genes.
  • The PubMed database: Contains scientific articles and research papers on various genetic and rare diseases.
  • Genetic and Rare Diseases (GARD) Information Center’s SGBS page: Offers a summary of the condition, its symptoms, inheritance patterns, and links to additional resources.

If you or someone you know is affected by Simpson-Golabi-Behmel syndrome or any other rare disease, GARD is here to support you. Contact GARD for information, resources, and support on your rare disease journey.

Patient Support and Advocacy Resources

Simpson-Golabi-Behmel syndrome (SGBS) is a rare genetic condition characterized by overgrowth, distinctive facial features, skeletal abnormalities, and other possible health issues. Due to its low frequency in the population, it is considered a rare disease.

For those affected by SGBS and their families, it is essential to have access to resources and support systems that can provide information, guidance, and advocacy. The following resources can help individuals learn more about the condition and find support:

  • The Simpson-Golabi-Behmel Syndrome Family Support & Advocacy Group: This organization provides support and resources for individuals and families affected by SGBS. They offer information on the condition, connect people with others facing similar challenges, and advocate for greater awareness and research.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive database of genetic disorders. It provides detailed information about SGBS, including associated genes, inheritance patterns, and clinical features.
  • PubMed: PubMed is a database of scientific articles, including research on SGBS. It can provide additional information on the condition, possible causes, associated health issues, and treatment options.
  • The Genetic and Rare Diseases Information Center: This organization provides information and resources for rare diseases, including SGBS. They offer an overview of the condition, details on genetic testing, and links to other articles and organizations focused on rare diseases.
See also  Rubinstein-Taybi syndrome

It is important to note that SGBS has an X-linked inheritance pattern, meaning it primarily affects males, while females can be carriers of the condition. There are several genes associated with SGBS, including the GPC3 and GPC4 genes, which code for glypican proteins involved in cell growth and signaling.

If you or someone you know is affected by SGBS, seeking support and joining advocacy groups can provide valuable information, resources, and a supportive community.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases, providing valuable information about various genetic conditions and their associated genes. This catalog serves as a reliable resource for researchers, healthcare professionals, and patients seeking to learn more about rare genetic disorders such as the Simpson-Golabi-Behmel syndrome (SGBS).

Simpson-Golabi-Behmel syndrome is a rare X-linked condition characterized by excessive growth, distinctive facial features, and skeletal abnormalities. This syndrome is caused by mutations in the GPC3 (glypican 3) gene, which plays a crucial role in regulating cell growth and development.

OMIM provides a wealth of information about SGBS, including its clinical features, molecular basis, inheritance patterns, and more. With this information, healthcare professionals can better understand and diagnose the syndrome. Genetic testing is often recommended for those with suspected SGBS, as it can confirm the diagnosis and provide valuable information for patient management.

OMIM supports its catalog entries with scientific articles, pubmed references, and additional resources, making it a reliable source of information for those interested in learning more about SGBS and other rare genetic diseases. The catalog also includes information about advocacy and support resources for patients and their families.

Although SGBS primarily affects males, females can also be carriers of the condition. In some cases, females can present with mild features of the syndrome. The frequency of SGBS in the general population is unknown, but it is considered a rare condition.

OMIM’s catalog of genes and diseases goes beyond SGBS, providing information on a wide range of genetic conditions affecting various systems of the body. By exploring this catalog, researchers and healthcare professionals can learn more about the causes, inheritance patterns, and possible treatments for these conditions.

In conclusion, OMIM’s catalog of genes and diseases is a valuable resource for anyone seeking information about rare genetic disorders such as Simpson-Golabi-Behmel syndrome. With its comprehensive information and scientific references, OMIM supports the advancement of research, diagnosis, and patient care in the field of genetics.

Scientific Articles on PubMed

The Simpson-Golabi-Behmel syndrome (SGBS) is a rare genetic condition characterized by overgrowth and distinctive physical features. It primarily affects males, with a frequency of approximately 1 in 30,000-60,000 births. The inheritance pattern of SGBS is X-linked, meaning that the gene responsible for the condition is located on the X chromosome. Females can also be affected, but the symptoms are typically milder.

Patient resources and advocacy organizations such as the Simpson-Golabi-Behmel Syndrome Family Network provide support and information about the syndrome. Additionally, scientific articles on PubMed contain more detailed information about the genetic causes, associated symptoms, and possible treatments for SGBS. These articles can be accessed using the PubMed database, which is a comprehensive catalog of scientific literature.

One of the common features of SGBS is skeletal overgrowth, which manifests as an increased height and bone size. The condition is also associated with a range of additional symptoms, including facial abnormalities, heart defects, hernia, and abnormalities of the central nervous system. The exact mechanisms through which the gene mutations cause these symptoms are still unknown.

Research studies have identified several genes that are associated with SGBS, including the GPC3 gene, which codes for a protein called glypican 3. Mutations in this gene result in the production of a non-functional or absent glypican 3 protein, leading to abnormal cellular signaling and growth regulation. Other genes, such as GPC4 and BCOR, have also been implicated in the development of SGBS.

Scientific articles on PubMed provide valuable insights into the genetic basis of SGBS and ongoing research efforts to understand the condition better. These articles can help healthcare professionals, researchers, and individuals affected by SGBS to stay updated on the latest discoveries and treatment options.

References to relevant articles on PubMed can be found on the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive online catalog of genetic disorders and associated genes. It provides detailed information about the clinical features, inheritance patterns, and available diagnostic testing for rare diseases like SGBS.

  • Simpson-Golabi-Behmel Syndrome Family Network – A support network for individuals and families affected by SGBS: https://sgbsf.org/
  • Online Mendelian Inheritance in Man (OMIM) – Catalog of human genes and genetic disorders: https://omim.org/
Useful Resources for Simpson-Golabi-Behmel syndrome:

References