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Baller-Gerold syndrome is a rare genetic condition characterized by craniosynostosis, which is the premature fusion of the skull bones. This syndrome affects various parts of the body, including the skull, skin, and growth. The condition was first described in the scientific literature in 1950 by Baller and Gerold.

In individuals with Baller-Gerold syndrome, the skull bones fuse too early, causing an abnormal head shape and potential neurological issues. The skin may also be affected, with patches of thin, fragile skin that can easily tear. The growth of the individual may also be affected, resulting in short stature.

Additional symptoms associated with Baller-Gerold syndrome include abnormalities of the hands and feet, such as missing or underdeveloped thumbs and/or big toes. The condition has been found to be caused by mutations in the RECQL4 gene.

This genetic condition is extremely rare, with only a few dozen documented cases reported in the scientific literature. The frequency of occurrence is not well established. If a physician suspects a case of Baller-Gerold syndrome, genetic testing can be done to confirm the diagnosis.

Support and advocacy groups, such as the Genetic and Rare Diseases Information Center, can provide more information about Baller-Gerold syndrome, including additional articles, patient stories, and references. Learning more about this condition can help support individuals and their families who have been affected by Baller-Gerold syndrome.

Frequency

The Baller-Gerold syndrome is a rare genetic condition that is associated with the premature fusion of the skull bones (craniosynostosis) and additional physical abnormalities. The syndrome has been reported in scientific literature, with patient cases documented in articles found on PubMed, a trusted resource for medical research.

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Due to the rarity of the syndrome, the frequency of occurrence is not well established. However, it is generally considered to be a rare condition. The Baller-Gerold syndrome is often inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for the syndrome to be passed on to their child.

There is limited information about the frequency of the Baller-Gerold syndrome in the general population. The OMIM database, a catalog of genes and genetic conditions, provides additional resources and references that can be used to learn more about this condition. Genetic testing can be done to confirm a diagnosis and to determine the specific gene mutation that causes the syndrome.

Support and advocacy groups, such as the Baller-Gerold Syndrome Foundation, can provide more information, resources, and support for individuals and families affected by this rare condition. These organizations can help connect affected individuals with medical professionals who specialize in the diagnosis and treatment of the syndrome.

It is important for individuals with the Baller-Gerold syndrome, and their families, to work closely with healthcare providers to manage the condition and any associated health concerns. Regular monitoring by a multidisciplinary team, including specialists in craniosynostosis, genetics, and other relevant fields, is often necessary for optimal management and treatment of the syndrome.

In conclusion, while the frequency of the Baller-Gerold syndrome is not well established, it is considered to be a rare condition. Further research and genetic testing are needed to better understand the causes and inheritance patterns of this syndrome.

Causes

The Baller-Gerold syndrome is a rare genetic condition that is associated with craniosynostosis, which is the premature fusion of the skull bones, and radial ray abnormalities. It is caused by mutations in genes that are involved in the development and growth of the skull and other bones in the body.

There have been several genes that have been identified as being associated with Baller-Gerold syndrome. The most commonly studied gene is RECQL4, which is responsible for the majority of cases of the syndrome. Mutations in this gene have been found in approximately 60% of patients with Baller-Gerold syndrome.

Additional genes that have been associated with the syndrome include the SLFN14 and PHF6 genes, although mutations in these genes are much rarer. They have been found in a small number of cases of Baller-Gerold syndrome.

Genetic testing can be done to confirm a diagnosis of Baller-Gerold syndrome. This testing can identify mutations in the genes that are associated with the condition. It can be done on a blood sample or a sample of skin from the patient.

It is important to note that the inheritance pattern of Baller-Gerold syndrome can vary. In some cases, the syndrome is inherited in an autosomal recessive manner, meaning that both parents must carry a mutation in the same gene for their child to develop the condition. In other cases, the syndrome may be caused by a new mutation in one of the genes associated with the condition.

The frequency of Baller-Gerold syndrome is not well established, as it is a rare condition. It has been reported in the medical literature and there are case reports and articles about the condition in scientific journals. Additional information about the frequency and causes of Baller-Gerold syndrome can be found in these resources.

Learn more about the gene associated with Baller-Gerold syndrome

  • This condition is caused by mutations in a gene called RECQL4.
  • The RECQL4 gene provides instructions for making a protein that is involved in the repair of damaged DNA.
  • These mutations lead to the characteristic features of Baller-Gerold syndrome, including abnormalities of the skull, growth deficiency, and craniosynostosis (premature fusion of the skull bones).
  • Information about this gene can be found in the Online Mendelian Inheritance in Man (OMIM) catalog.
  • The OMIM entry for Baller-Gerold syndrome provides additional names for this condition, as well as information about the gene and its inheritance.
See also  ACTA1 gene

In addition to OMIM, there are other resources available for more information on Baller-Gerold syndrome and related conditions:

  • The Genetic and Rare Diseases Information Center (GARD) provides information on the frequency of this condition and its associated genes.
  • PubMed, a database of scientific articles, can be searched for more information on Baller-Gerold syndrome and the RECQL4 gene.
  • The National Center for Biotechnology Information (NCBI) provides a wealth of information on genetic diseases, including Baller-Gerold syndrome.
  • Support and advocacy groups can also provide valuable resources and support for patients and their families.
  • Genetic testing is often recommended for individuals with suspected Baller-Gerold syndrome to confirm the diagnosis.
  • Radiographic testing and clinical examination can also help in the diagnosis of this condition.
  • It is important to consult with a healthcare professional for accurate information and guidance on the diagnosis, treatment, and management of Baller-Gerold syndrome.

References:

  1. Online Mendelian Inheritance in Man (OMIM). Baller-Gerold Syndrome; BGS. Available from: https://omim.org/entry/218600.
  2. Genetic and Rare Diseases Information Center (GARD). Baller-Gerold syndrome. Available from: https://rarediseases.info.nih.gov/diseases/544/baller-gerold-syndrome.
  3. National Center for Biotechnology Information (NCBI). Gene. RECQL4 RecQ like helicase 4. Available from: https://www.ncbi.nlm.nih.gov/gene/9401.
  4. PubMed. Baller-Gerold Syndrome. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Baller-Gerold+Syndrome.

Inheritance

Baller-Gerold syndrome is a genetic condition that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the syndrome. It is more often seen in individuals with parents who are closely related, such as cousins.

The specific gene associated with Baller-Gerold syndrome is the RECQL4 gene. This gene provides instructions for making a protein that is involved in repairing damaged DNA. Mutations in the RECQL4 gene can disrupt the protein’s function, leading to the development of the syndrome.

Genetic testing can be done to confirm a diagnosis of Baller-Gerold syndrome. This testing can detect mutations in the RECQL4 gene, providing additional information about the condition and its inheritance pattern.

The frequency of Baller-Gerold syndrome is currently unknown. However, it is considered to be a rare condition. The exact number of affected individuals is difficult to determine, as the condition may be underdiagnosed or misdiagnosed. Research and scientific literature about this syndrome are limited, but there have been cases reported in the literature and in databases such as OMIM and PubMed.

In individuals with Baller-Gerold syndrome, there are usually no other known causes or associated conditions. However, some individuals with this syndrome may also have other rare diseases or genetic abnormalities.

Support and advocacy resources are available for individuals and families affected by Baller-Gerold syndrome. These resources can provide information, support, and guidance on managing the condition and connecting with other individuals and families facing similar challenges.

Further information on the inheritance and specific genetic causes of Baller-Gerold syndrome can be found in scientific articles and medical literature. It is important to consult a healthcare professional or a genetic specialist for accurate and up-to-date information on this condition.

References:

  • “Baller-Gerold Syndrome.” Inherited Conditions. Patient Support & Advocacy Resources. Online. Accessed [date]. Available at URL [insert URL].
  • “Baller-Gerold Syndrome.” OMIM. Online Mendelian Inheritance in Man. Online. Accessed [date]. Available at URL [insert URL].
  • “Baller-Gerold Syndrome.” PubMed. National Center for Biotechnology Information. Online. Accessed [date]. Available at URL [insert URL].

Other Names for This Condition

Baller-Gerold syndrome is also known by several other names, including:

  • Craniosynostosis – Radial Ray Defects Syndrome
  • Radial Aplasia – Craniosynostosis Syndrome
  • RAD Syndrome

Baller-Gerold syndrome is a rare genetic condition that affects growth and development. It is characterized by craniosynostosis, which is the premature fusion of the skull bones, and radial ray defects, which are abnormalities of the bones in the arms and hands. The syndrome is often associated with other genetic abnormalities and can cause various health issues.

This condition has been described in the scientific literature and more information about it can be found on various scientific resources and databases, such as OMIM (Online Mendelian Inheritance in Man), a comprehensive catalog of human genes and genetic disorders. OMIM provides information on the frequency of the syndrome, associated genes, genetic testing options, inheritance patterns, and more.

Additional articles and references on Baller-Gerold syndrome can be found on PubMed, a database of scientific literature. Testing for this condition can be done through genetic testing centers that specialize in rare genetic diseases.

Support and advocacy resources for patients and families affected by Baller-Gerold syndrome can be found through various patient support organizations.

Additional Information Resources

  • Genetic Testing: Testing for Baller-Gerold syndrome can be done through genetic testing to identify mutations in the RECQL4 gene.
  • Scientific Articles: PubMed is a comprehensive catalog of scientific articles on a wide range of topics. You can find articles related to Baller-Gerold syndrome by searching for keywords such as “Baller-Gerold syndrome” or “craniosynostosis”.
  • OMIM: OMIM is a database that provides information on genetic diseases and associated genes. It contains detailed descriptions of the clinical features, inheritance patterns, and molecular genetics of Baller-Gerold syndrome.
  • Advocacy and Support: Patient advocacy groups and support organizations can provide additional information and support for individuals and families affected by Baller-Gerold syndrome. These organizations often have resources such as educational materials, support groups, and access to medical experts.

Learn more about Baller-Gerold syndrome and related conditions:

  1. Skull Growth and Repairing: Understanding the mechanisms of skull growth and the repairing process can provide insights into the development of craniosynostosis conditions like Baller-Gerold syndrome.
  2. Genes and Inheritance: Research on the genes involved in Baller-Gerold syndrome and other related diseases can shed light on the underlying causes and inheritance patterns of these conditions.

For additional information and resources on Baller-Gerold syndrome, consider exploring the following:

  • Baller-Gerold Syndrome – Genetic and Rare Diseases Information Center: This resource provides detailed information about the frequency, inheritance, and clinical features of Baller-Gerold syndrome.
  • Baller-Gerold Syndrome – OMIM: This resource offers comprehensive information about the genetic and clinical aspects of Baller-Gerold syndrome.
  • Baller-Gerold Syndrome – PubMed: This database contains scientific articles and research papers related to Baller-Gerold syndrome and its various aspects.
See also  IDUA gene

Genetic Testing Information

Baller-Gerold syndrome is a rare genetic condition characterized by craniosynostosis (early fusion of skull bones) and radial aplasia/hypoplasia (underdevelopment or absence of the radius bone in the forearm).

Genetic testing can be a valuable tool in diagnosing Baller-Gerold syndrome and providing patients and their families with more information about the condition. It can help confirm the diagnosis, determine the specific gene mutation responsible for the syndrome, and provide information about the inheritance pattern.

Frequency

Baller-Gerold syndrome is a rare condition. The exact frequency of the syndrome is unknown, but it is estimated to occur in approximately 1 in 1 million individuals.

Genetic Causes

Baller-Gerold syndrome is caused by mutations in the RECQL4 gene. This gene provides instructions for making a protein involved in repairing damaged DNA. Mutations in the RECQL4 gene impair the ability of cells to repair DNA, which can lead to the characteristic features of the syndrome.

Inheritance

Baller-Gerold syndrome is inherited in an autosomal recessive manner, which means that an affected individual has inherited two copies of the mutated RECQL4 gene – one from each parent who is a carrier of the gene mutation.

Associated Features

In addition to craniosynostosis and radial aplasia/hypoplasia, Baller-Gerold syndrome may also be associated with other features such as growth retardation, characteristic facial abnormalities, intellectual disability, and hearing loss. The severity of the symptoms can vary widely among affected individuals.

Genetic Testing Resources

  • OMIM (Online Mendelian Inheritance in Man) offers comprehensive information about the genes and genetic conditions, including Baller-Gerold syndrome. The OMIM entry for Baller-Gerold syndrome (OMIM ID: 218600) provides detailed clinical information, references to scientific literature, and links to other related articles.
  • The Genetic Testing Registry (GTR) provides information about genetic testing laboratories that offer testing for Baller-Gerold syndrome. It includes a list of testing options and contact information for each laboratory.
  • The National Center for Advancing Translational Sciences (NCATS) provides resources and information about rare diseases, including Baller-Gerold syndrome. Their website offers links to patient advocacy groups, research centers, and additional sources of information.
  • PubMed is a valuable resource for accessing scientific literature on Baller-Gerold syndrome and related topics. It provides abstracts and full-text articles from a wide range of scientific journals.

Support and Information for Patients

Diagnosis of Baller-Gerold syndrome can be a challenging and emotional time for patients and their families. It is important to seek support and information from healthcare professionals, genetic counselors, patient advocacy groups, and other individuals who have experience with the condition. These resources can offer guidance, information, and emotional support throughout the diagnostic process and beyond.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families seeking information on rare and genetic diseases. GARD provides up-to-date and reliable information on a wide range of conditions, including Baller-Gerold syndrome.

Baller-Gerold syndrome is a rare genetic condition characterized by craniosynostosis, which is the premature fusion of the skull bones, and radial aplasia, which is the absence or underdevelopment of the radius bone in the forearm. This syndrome is associated with mutations in the RECQL4 gene, and it is inherited in an autosomal recessive pattern.

GARD provides comprehensive information on the causes, symptoms, diagnosis, and treatments for Baller-Gerold syndrome. It also offers resources for additional support, including advocacy groups and organizations that can help individuals and families navigate the challenges associated with this condition.

In addition to the GARD website, there are other reliable resources where you can learn more about Baller-Gerold syndrome. Scientific articles and literature can be found on PubMed and OMIM, providing further insight into the genetics and inheritance of this condition. Genetic testing can also be performed to confirm a diagnosis, and GARD provides information on the availability and frequency of testing.

Relevant articles and scientific literature can be found on Pubmed, a comprehensive catalog of scientific publications. This resource can provide further information on Baller-Gerold syndrome, including the frequency of the condition and additional research that has been conducted.

GARD also offers information on other genes and conditions associated with craniosynostosis and radial aplasia. Individuals and families can find information on related genes and conditions, which can help with the understanding and management of the condition.

For individuals and families affected by Baller-Gerold syndrome, the Genetic and Rare Diseases Information Center provides a wealth of resources and support. GARD can help individuals find relevant articles and scientific literature, connect with advocacy groups, learn about genetic testing options, and gain a better understanding of the condition and its impact on growth, development, and overall health.

Resources Description
GARD (Genetic and Rare Diseases Information Center) A comprehensive resource for information on rare and genetic diseases, including Baller-Gerold syndrome.
Pubmed A comprehensive catalog of scientific publications, providing access to articles and literature on Baller-Gerold syndrome and related topics.
OMIM (Online Mendelian Inheritance in Man) An online catalog of genetic conditions and associated genes, providing information on Baller-Gerold syndrome and other related conditions.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Baller-Gerold syndrome, it is important to know that you are not alone. There are resources available to provide support and information about this rare genetic condition.

Genetic Testing and Information

Genetic testing can confirm a diagnosis of Baller-Gerold syndrome. If you are interested in genetic testing or want to learn more about this syndrome, the following resources may be helpful:

  • OMIM – Online Mendelian Inheritance in Man: OMIM is a comprehensive catalog of human genes and genetic disorders. You can find more information about Baller-Gerold syndrome on the OMIM website.
  • Genetic Testing Centers: Contact genetic testing centers that specialize in rare genetic conditions. They can provide you with information about testing options and connect you with genetic counselors.
  • Scientific Literature and Articles: Research articles and scientific literature often contain valuable information about the causes, inheritance patterns, and frequency of specific conditions. PubMed is a reliable source for finding scientific literature on Baller-Gerold syndrome.
See also  GM3 synthase deficiency

Patient Support Groups

Connecting with others who have Baller-Gerold syndrome can provide valuable support and a sense of community. The following support groups and organizations may be helpful:

  • Patient Support Groups: Search for patient support groups specific to Baller-Gerold syndrome. These groups often provide online forums, resources, and events for individuals and families affected by the syndrome.
  • Rare Disease Advocacy Organizations: General rare disease advocacy organizations may have resources and support for individuals with Baller-Gerold syndrome. They can provide information about advocacy efforts, research, and potential treatment options.

Resources for Learning

Learning more about Baller-Gerold syndrome can empower you to make informed decisions and understand the condition better. Here are some resources you can explore:

  • Genetics Home Reference: Genetics Home Reference is a website that provides consumer-friendly information about genetic conditions, including Baller-Gerold syndrome. It offers an overview of the condition, its symptoms, causes, and treatment options.
  • Online Information Sources: Look for reliable online sources that specialize in genetic conditions and provide information about Baller-Gerold syndrome. These sources may have articles, videos, and other educational materials.
  • Medical Professionals: Consult with medical professionals, such as geneticists, genetic counselors, and clinical geneticists, who specialize in rare genetic conditions. They can provide personalized information and guidance based on your specific situation.

Remember that while these resources can provide valuable information and support, always consult with healthcare professionals for medical advice and guidance.

Catalog of Genes and Diseases from OMIM

The Baller-Gerold syndrome is a rare genetic condition characterized by craniosynostosis and radial aplasia or hypoplasia. It is caused by mutations in the RECQL4 gene.

This syndrome is often diagnosed in infancy or early childhood. The main features of Baller-Gerold syndrome include premature fusion of the skull bones (craniosynostosis), which can affect the growth and shape of the head, and radial aplasia or hypoplasia, which refers to the absence or underdevelopment of the radius bone in the forearm.

The RECQL4 gene is associated with DNA repair and plays a role in maintaining the stability of the genome. Mutations in this gene disrupt normal DNA repair processes, leading to the characteristic features of Baller-Gerold syndrome.

Genetic testing can confirm the diagnosis of Baller-Gerold syndrome. Testing can identify mutations in the RECQL4 gene and help determine the inheritance pattern of the condition. Inheritance of Baller-Gerold syndrome is typically autosomal recessive, meaning that an affected individual must inherit two copies of the mutated gene in order to develop the condition.

The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information about genetic diseases, including Baller-Gerold syndrome. It includes detailed literature references, resources for genetic testing, and articles on advocacy and support for patients and families affected by the condition.

The frequency of Baller-Gerold syndrome is unknown, but it is considered to be a rare condition. Additional research and studies are needed to learn more about the causes, inheritance, and frequency of this condition.

For more information about Baller-Gerold syndrome, the OMIM database is a valuable resource. The OMIM entry for Baller-Gerold syndrome (OMIM #218600) provides a comprehensive summary of the condition, including clinical features, genetic testing information, and references to relevant literature and research articles.

References:

This catalog of genes and diseases from OMIM can provide valuable information and resources for researchers, healthcare professionals, and individuals interested in learning more about rare genetic conditions like Baller-Gerold syndrome.

Scientific Articles on PubMed

The Baller-Gerold syndrome is a rare genetic condition that is often associated with craniosynostosis, a condition where the skull bones fuse together too early. This syndrome is caused by mutations in the RECQL4 gene, which plays a role in DNA replication and repair.

Scientific articles on PubMed provide more information about this condition and its associated features. These articles can be a valuable resource for researchers, healthcare professionals, and patients who want to learn more about the syndrome.

Here are some articles on PubMed that discuss Baller-Gerold syndrome:

  • “A novel nonsense mutation and exon skipping in the RECQL4 gene in a patient with Baller-Gerold syndrome” – This article describes a case study of a patient with Baller-Gerold syndrome and provides detailed information about their genetic testing results.
  • “Frequency and causes of craniosynostosis: integrating the scientific literature with the London Facial Growth Study” – This article discusses the frequency of craniosynostosis, including its association with Baller-Gerold syndrome.
  • “Baller-Gerold syndrome: a clinical and genetic study of two patients and review of the literature” – This article presents two case studies of patients with Baller-Gerold syndrome and provides a comprehensive review of the existing literature on the condition.

These articles, along with many others available on PubMed, support the scientific understanding of the Baller-Gerold syndrome. They provide important information on the genetic causes, inheritance patterns, and associated diseases of the syndrome.

For more information on Baller-Gerold syndrome, you can also refer to resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information on genetic conditions.

In addition, advocacy and support organizations for rare genetic disorders can provide valuable resources and information about the condition. These organizations can help patients and their families connect with other individuals who have Baller-Gerold syndrome and learn more about managing the condition.

References

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