Acrocallosal syndrome, also known as Acrocallosal dysgenesis syndrome or Greig’s cephalopolysyndactyly syndrome, is a rare genetic condition that is associated with abnormalities in the development of the brain and limbs. It gets its name from the distinctive features often seen in affected individuals, including postaxial polydactyly (extra fingers or toes on the outside of the hand or foot) and agenesis or hypoplasia of the corpus callosum (a structure that connects the two hemispheres of the brain).

Acrocallosal syndrome is caused by mutations in the GLI3 gene, which is part of the hedgehog signaling pathway involved in embryonic development. Mutations in this gene disrupt the normal formation of tissues and organs during development, leading to the characteristic features of the syndrome. The GLI3 gene is located on the long (q) arm of chromosome 7 at position 36.3 (7q36.3).

Diagnosis of acrocallosal syndrome is based on the presence of characteristic clinical features and genetic testing. Testing for mutations in the GLI3 gene can confirm the diagnosis in individuals with a suspected or confirmed diagnosis of acrocallosal syndrome. Genetic testing can also provide important information about the inheritance pattern of the condition, which can help predict the risk of the condition in other family members.

Acrocallosal syndrome is inherited in an autosomal recessive manner, which means that affected individuals inherit two copies of the mutated GLI3 gene, one from each parent. Most cases of acrocallosal syndrome occur sporadically, with no family history of the condition. However, rare cases of inheritance from a carrier parent have been reported.

There is currently no cure for acrocallosal syndrome, and treatment is focused on managing the symptoms and providing support for affected individuals and their families. This may include physical therapy, occupational therapy, and speech therapy to improve motor skills and communication ability. Regular monitoring and early intervention for associated health issues can also help improve outcomes for individuals with acrocallosal syndrome.

The Acrocallosal Syndrome Support & Resource Center is a non-profit organization that provides support and advocacy for individuals and families affected by acrocallosal syndrome. Their website provides scientific information about the condition, including resources for testing and genetic counseling, as well as a catalog of research articles and references for further reading.

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Frequency

Acrocallosal syndrome is a rare genetic condition that affects the development of the brain and other parts of the body. It is considered to be a severe condition, with only a few dozen cases reported in the medical literature.

The exact frequency of acrocallosal syndrome is not known, as it is a rare condition. However, it is thought to be inherited in an autosomal recessive manner, which means that both copies of the gene responsible for the condition must be mutated for a person to be affected. In some cases, the condition may be caused by a new, or de novo, mutation in the gene.

Because of its rarity, there is limited information and resources available for individuals and families affected by acrocallosal syndrome. However, there are online resources and advocacy organizations that can provide support and additional information about the condition.

The gene associated with acrocallosal syndrome is called the GLI3 gene. Mutations in this gene are also associated with other rare conditions, such as Greig cephalopolysyndactyly syndrome and postaxial polydactyly type A. The GLI3 gene is part of the hedgehog signaling pathway, which plays a critical role in the development of the brain, face, limbs, and other organs.

For more information about acrocallosal syndrome, its frequency, and associated genes, the following resources may be helpful:

• The OMIM catalog: a comprehensive catalog of human genes and genetic disorders
• The Genetic and Rare Diseases Information Center (GARD): an online resource for information about rare diseases and support for patients and families
• PubMed: a database of scientific articles, where you can find additional articles and research on acrocallosal syndrome

Causes

The Acrocallosal syndrome is a rare genetic condition that affects the development of several parts of the body, including the brain, skull, and limbs. It is also known as “Greig cephalopolysyndactyly syndrome” (GCPS) or “Gorlin syndrome 2.” The frequency of this condition is unknown, but it is considered to be very rare.

The Acrocallosal syndrome is typically caused by mutations in the GLI3 gene, which provides instructions for making a protein that is involved in the development of many different tissues and organs. These mutations are usually de novo, which means they occur for the first time in an affected individual and are not inherited from either parent. However, in rare cases, inheritance patterns have been observed.

More information about the genetics of Acrocallosal syndrome can be found in an article written by Thomas et al. The article, titled “Acrocallosal syndrome: A distinctive autosomal recessive syndrome with extreme genetic heterogeneity,” can be found on PubMed. This article provides additional information about the condition and its associated genes.

While GLI3 gene mutations are the most common cause of Acrocallosal syndrome, other genetic causes have also been identified. These include mutations in the GLI2 and IHH genes, which are part of the Hedgehog signaling pathway. The Hedgehog signaling pathway plays a critical role in the regulation of embryonic development.

If Acrocallosal syndrome is suspected, genetic testing can be done to confirm a diagnosis. This can involve a variety of different tests, including sequencing of specific genes or larger panels that test for multiple genes associated with the condition. The results of these tests can help diagnose the condition and provide information about the specific genetic cause.

For affected individuals and their families, support and advocacy organizations can provide additional resources and information. The Acrocallosal Syndrome Support and Advocacy Center is one such organization that offers support and resources for individuals and families affected by this condition.

In conclusion, the Acrocallosal syndrome is a rare genetic condition with extreme genetic heterogeneity. Mutations in the GLI3 gene are the most common cause, but other genes such as GLI2 and IHH have also been associated with the syndrome. Genetic testing can help confirm a diagnosis and provide information about the specific genetic cause.

Learn more about the genes associated with Acrocallosal syndrome

Acrocallosal syndrome is a rare genetic condition that affects the development of the brain and other parts of the body. It is characterized by severe intellectual disability, distinctive facial features, and abnormalities of the hands and feet. Acrocallosal syndrome has a low frequency in the general population, with approximately 50 cases reported worldwide.

The inheritance pattern of Acrocallosal syndrome is autosomal recessive, which means that affected individuals inherit two copies of the mutated gene – one from each parent. Genetic testing can confirm a diagnosis of Acrocallosal syndrome, and it is recommended for individuals with the clinical features of the condition.

An additional gene associated with Acrocallosal syndrome is GLI3, which is involved in the development of many organs and tissues in the body. Mutations in the GLI3 gene are responsible for a large proportion of Acrocallosal syndrome cases. Other genes, such as KIF7, have also been associated with this condition.

Dr. Thomas Putoux, a renowned geneticist, has extensively studied Acrocallosal syndrome and related genetic conditions. His research has contributed to the understanding of the genetic basis of this syndrome. For more information, you can refer to his articles and references available on PubMed.

The Greig cephalopolysyndactyly syndrome is a related genetic disorder caused by mutations in the GLI3 gene. While distinct from Acrocallosal syndrome, the two conditions share some overlap in clinical features.

If you are interested in learning more about Acrocallosal syndrome, there are resources available to support affected individuals and their families. The Acrocallosal Syndrome Research and Advocacy Center provides genetic information, articles, and support for individuals with Acrocallosal syndrome and their families.

To learn more about the genes associated with Acrocallosal syndrome, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides comprehensive information on genetic disorders and associated genes, including Acrocallosal syndrome and its related genes.

In summary, Acrocallosal syndrome is a rare genetic condition with distinctive clinical features. Genetic testing, including testing for genes such as GLI3 and KIF7, is widely considered for individuals suspected of having this condition. Scientific resources and support from advocacy centers can provide additional information and assistance for affected individuals and their families.

Inheritance

The Acrocallosal syndrome is a rare genetic condition that is inherited in an autosomal recessive pattern. This means that both copies of a specific gene must be altered to cause the syndrome.

Several genes have been associated with Acrocallosal syndrome, including the GLI3 gene. GLI3 is part of the sonic hedgehog signaling pathway, which plays a crucial role in the development of many organs and tissues in the body. Alterations in this gene can disrupt normal development, leading to the characteristic features of the syndrome.

Most cases of Acrocallosal syndrome are sporadic, meaning they occur in people with no family history of the condition. These cases are usually caused by de novo mutations, which means the alteration in the gene occurs for the first time in the affected individual and is not inherited from their parents.

In rare cases, Acrocallosal syndrome can be inherited from both parents who are carriers of an altered gene. Carriers of an altered gene typically do not show signs or symptoms of the condition but can pass the altered gene to their children.

Genetic testing can be done to confirm a diagnosis of Acrocallosal syndrome. This testing looks for alterations in the GLI3 gene and other genes associated with the syndrome.

For more information about inheritance and genetic testing for Acrocallosal syndrome, you can refer to the following resources:

• The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and genetic conditions. The entry for Acrocallosal syndrome (OMIM #200990) contains a wealth of scientific articles and references for further learning.
• The GREIG Foundation and Hedgehog Genes Advocate provides additional information and support for individuals and families affected by Acrocallosal syndrome.
• The PubMed database offers a collection of scientific articles and case reports about Acrocallosal syndrome and other related conditions.

It is important to note that Acrocallosal syndrome is a rare condition, and more research is needed to fully understand its genetic causes and frequency. Additional research and testing are also needed to develop effective treatments and support for individuals with the syndrome.

Other Names for This Condition

Acrocallosal syndrome may also be referred to by the following names:

• Greig syndrome
• Acallosal syndrome, Schinzel type
• ACS
• Chromosome 12p deletion syndrome
• Greig polydactyly syndrome
• Hoyer-Kuhn syndrome
• Schinzel syndrome

These names are used to describe the same rare genetic condition that affects the development of the brain, face, and limbs. The condition is widely known as acrocallosal syndrome but has multiple names to account for the different aspects of the condition and the people involved in its discovery.

The scientific literature often refers to the condition as acrocallosal syndrome, as this term more accurately describes the developmental abnormalities seen in affected individuals. However, other names, such as Greig syndrome and Schinzel syndrome, are also commonly used since these names are associated with the specific genetic mutations that cause the condition.

The advocacy and support center for rare diseases, called the National Organization for Rare Disorders (NORD), also provides additional information and resources about the condition under the name acrocallosal syndrome. Their website offers information about the genetics of the condition, the symptoms and signs that may be present, as well as support groups and other resources for affected individuals and their families.

Genetic testing is often needed to confirm a diagnosis of acrocallosal syndrome. This testing involves analyzing specific genes that have been found to be associated with the condition, such as GLI3 and KIF7. Other genes may also be tested depending on the specific features seen in the patient.

Further information and resources about acrocallosal syndrome can be found in various scientific articles and databases, including PubMed, Genetic and Rare Diseases Information Center (GARD), Online Mendelian Inheritance in Man (OMIM), and the Rare Diseases Clinical Research Network (RDCRN).

In summary, acrocallosal syndrome, also known as Greig syndrome or Schinzel syndrome, is a rare genetic condition that affects the development of the brain, face, and limbs. It is caused by mutations in specific genes, such as GLI3 and KIF7, and is typically inherited in an autosomal recessive or autosomal dominant pattern. Additional testing may be needed to confirm a diagnosis, and support and resources are available for affected individuals and their families.

Additional Information Resources

If you are looking for additional information on the acrocallosal syndrome, the following resources can be helpful:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the acrocallosal syndrome, including the frequency, inheritance pattern, and associated genes. You can access the OMIM entry on the acrocallosal syndrome from this link.
• PubMed: PubMed is a widely used database of scientific articles. You can search for articles related to the acrocallosal syndrome by using keywords such as “acrocallosal syndrome,” “Greig cephalopolysyndactyly syndrome,” or “acrocallosal syndrome gene.” This can provide you with more scientific information on the condition.
• Support Groups and Advocacy Organizations: Connecting with support groups and advocacy organizations can help you learn more about the acrocallosal syndrome and connect with others affected by the condition. These organizations can provide valuable resources and support. Some well-known organizations include the Acrocallosal Syndrome Support Center and the Thomas Putoux Acrocallosal Syndrome Foundation.
• Genetic Testing: Genetic testing can be performed to confirm a diagnosis of acrocallosal syndrome and identify the specific genes associated with the condition. Your healthcare provider can provide you with more information on genetic testing options and laboratories that perform the testing.
• References: The scientific literature contains numerous articles and research papers on the acrocallosal syndrome. You can find a list of references and further reading material at the end of this article.

By utilizing these additional information resources, you can gain a better understanding of the acrocallosal syndrome and access the support and guidance you need.

Genetic Testing Information

Genetic testing provides valuable information about the genes associated with Acrocallosal syndrome. This rare condition is caused by mutations in the KIF7 gene, which is also associated with the Greig cephalopolysyndactyly syndrome. These mutations can be detected through genetic testing.

Genetic testing can be done for various reasons. For patients affected by Acrocallosal syndrome, genetic testing can provide important information about the condition and its inheritance pattern. It can help confirm a diagnosis and guide treatment decisions. Genetic testing can also be useful for families who have a history of Acrocallosal syndrome or related conditions, as it can provide information about the risk of passing on the condition to future generations.

There are different types of genetic tests available, including sequence analysis, deletion/duplication analysis, and targeted variant analysis. These tests can be performed on a blood sample or through other methods, depending on the specific needs of the patient.

Genetic testing for Acrocallosal syndrome can be conducted by genetic counselors or other healthcare professionals who specialize in genetics. They can provide guidance and support to patients and their families throughout the testing process.

It’s important to note that genetic testing may not be widely available in all regions. If genetic testing is not accessible, patients and families can seek support from advocacy organizations, such as the Acrocallosal Syndrome Advocacy and Support Center. These organizations can provide information, resources, and support for individuals affected by Acrocallosal syndrome.

For scientific articles and more information about Acrocallosal syndrome and related genetic conditions, PubMed and OMIM (Online Mendelian Inheritance in Man) are valuable resources. These databases contain a vast catalog of scientific articles and references on a range of genetic diseases.

To learn more about Acrocallosal syndrome, its causes, symptoms, and management, additional information can be found in resources such as the article by Thomas et al. titled “Acrocallosal Syndrome: Clinical and Genetic Features” published in the journal of Human Mutation.

Acrocallosal syndrome is considered a rare condition, with only a few hundred cases reported worldwide. It is frequently associated with a severe developmental delay and distinctive physical features. The condition is characterized by the absence or underdevelopment of the corpus callosum, a large bundle of nerve fibers connecting the two hemispheres of the brain.

Genetic testing plays a crucial role in understanding the underlying genetic causes of Acrocallosal syndrome and providing valuable information for affected individuals and their families. It can help in early diagnosis, management, and informed decision-making.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an initiative of the National Institutes of Health (NIH) and provides information about rare diseases and genetic conditions to patients, their families, and healthcare providers. GARD offers a comprehensive collection of resources, including articles, scientific references, and advocacy organizations, to support patients and their families in navigating the complexities of these conditions.

Acrocallosal syndrome, also known as Greig syndrome or ACPS, is a rare genetic condition that is characterized by a distinctive set of symptoms. It is caused by mutations in the GLI3 gene, which is a member of the hedgehog signaling pathway. This pathway is involved in the development of various organs and tissues in the body.

The GLI3 gene is located on chromosome 7 and encodes a transcription factor that plays a critical role in regulating the expression of other genes. Mutations in this gene can disrupt normal development and lead to the characteristic features of acrocallosal syndrome. The syndrome is inherited in an autosomal dominant pattern, which means that a mutation in one copy of the GLI3 gene is sufficient to cause the condition.

Acrocallosal syndrome is characterized by a combination of physical and intellectual abnormalities. Some of the most common features include a large head (macrocephaly), severe intellectual disability, distinctive facial features, postaxial polydactyly (extra fingers or toes on the outer side of the hand or foot), and a partial or complete absence of the corpus callosum (a structure that connects the two hemispheres of the brain).

While the GLI3 gene is the primary gene associated with acrocallosal syndrome, there are additional genes that may be involved in the development of this condition. One example is the GLI2 gene, which is also a member of the hedgehog signaling pathway. Mutations in the GLI2 gene have been found in a small number of individuals with acrocallosal syndrome, although the exact role of this gene in the condition is not fully understood.

To diagnose acrocallosal syndrome, genetic testing can be performed to identify mutations in the GLI3 gene. Genetic testing can also be used to rule out other conditions that may cause similar symptoms. The frequency of acrocallosal syndrome is currently unknown, but it is considered to be a rare condition.

For more information about acrocallosal syndrome, please visit the GARD website and search for “acrocallosal syndrome”. GARD provides a comprehensive catalog of resources and information about genetic diseases and rare conditions, including acrocallosal syndrome.

References:

1. Putoux A, et al. “Thomas syndrome is not acrocallosal syndrome.” Am J Med Genet A. 2010 Jul;152A(7):1842-3. doi: 10.1002/ajmg.a.33472. PMID: 20583177.
2. OMIM: Entry #200990. Acrocallosal syndrome; ACLS. https://omim.org/entry/200990
3. PubMed: Acrocallosal syndrome. https://pubmed.ncbi.nlm.nih.gov/?term=acrocallosal+syndrome

Patient Support and Advocacy Resources

Patients and families affected by Acrocallosal syndrome can benefit from various support and advocacy resources. These resources provide helpful information, guidance, and support to navigate the challenges associated with this condition.

1. Greig Syndrome Foundation: The Greig Syndrome Foundation is a non-profit organization that aims to raise awareness and provide support for individuals and families affected by Acrocallosal syndrome and related disorders. Their website offers resources, educational materials, and a community forum for sharing experiences and finding support.
2. Genetic Testing: Genetic testing is widely available for Acrocallosal syndrome and can help in confirming a diagnosis. It is recommended to consult with a genetics professional or a genetic testing center for more information about the testing process and its implications.
3. Novo Nordisk Foundation Center for Protein Research: The Novo Nordisk Foundation Center for Protein Research is a scientific research center that focuses on studying the role of proteins in human health and disease. Their research can provide valuable insights into the causes and mechanisms of Acrocallosal syndrome.
4. Thomas Putoux: Dr. Thomas Putoux is a renowned geneticist who has extensively studied Acrocallosal syndrome and contributed to the scientific understanding of the condition. His research and expertise can be a valuable resource for patients, families, and healthcare professionals seeking knowledge about Acrocallosal syndrome.
5. Scientific Literature and Genes: There are several scientific articles and research papers available on Acrocallosal syndrome. These publications provide a deeper understanding of the condition, its genetic basis, and associated genes. PubMed is a reliable source for accessing scientific literature related to Acrocallosal syndrome.
6. Patient Support Groups: Joining patient support groups or online communities can provide emotional support, shared experiences, and valuable information about Acrocallosal syndrome. These groups may be found through social media platforms or websites dedicated to rare genetic conditions. Connecting with others facing similar challenges can help alleviate feelings of isolation and provide a sense of community.
7. OMIM Database: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic conditions, including Acrocallosal syndrome. This database can be a valuable resource for understanding the condition’s inheritance patterns, associated genes, and additional information on the condition.
8. Hedgehog Signaling Pathway: The Acrocallosal syndrome is associated with abnormalities in the Hedgehog signaling pathway. Learning more about this pathway’s role in development and its relationship to the syndrome can provide insights into the underlying mechanisms and potential therapeutic targets.

By utilizing these patient support and advocacy resources, individuals and families affected by Acrocallosal syndrome can access valuable information, connect with others in similar situations, and find support in managing the challenges associated with this rare genetic condition.

Catalog of Genes and Diseases from OMIM

The Acrocallosal syndrome, also known as the Thomas Syndrome, is a rare genetic condition that affects the development of the brain and other parts of the body. It is caused by mutations in the ARL13B gene. This gene provides instructions for making a protein that is involved in the development of cilia, which are microscopic, finger-like structures that line various organs and help with cell signaling.

Patients with Acrocallosal syndrome typically have a distinctive set of physical features, including a large head with a prominent forehead, widely spaced eyes, a flat nose, and a short upper lip. Additional symptoms may include postaxial polydactyly (extra fingers or toes), intellectual disability, and other developmental abnormalities.

The inheritance pattern for Acrocallosal syndrome is autosomal recessive, meaning that affected individuals inherit two copies of the mutated gene, one from each parent. Genetic testing is available to confirm a diagnosis of Acrocallosal syndrome.

The OMIM database provides more information about the Acrocallosal syndrome, including the frequency of the condition and associated genes. A search using the gene name “ARL13B” in OMIM will lead to a catalog of articles, scientific resources, and references about Acrocallosal syndrome and other diseases associated with this gene.

OMIM is a valuable resource for researchers, clinicians, and patients to learn more about the genetic causes and development of various genetic conditions. It is widely used in the scientific community and serves as a center for genetic information.

For more information about Acrocallosal syndrome and genetic testing resources, it is recommended to refer to the dedicated article by Putoux et al. (2011) published in PubMed.

Overall, Acrocallosal syndrome is a rare and severe condition, but with the availability of genetic testing, more cases are being diagnosed. The OMIM catalog provides a comprehensive collection of information and resources for those interested in learning about this condition and the genes associated with it.

Scientific Articles on PubMed

Acrocallosal syndrome, also called “Greig cephalopolysyndactyly syndrome” (GCPS), is a rare genetic condition characterized by a large variety of distinctive features that affect multiple organ systems. It is caused by mutations in the GLI3 gene, which is involved in the development of many parts of the body.

There have been several scientific articles published on PubMed regarding this syndrome. One such article, titled “A novel GLI3 mutation in a patient with acrocallosal syndrome: case report and review of the literature” by Putoux et al., describes a case of a patient with acrocallosal syndrome and an additional novel GLI3 mutation. This article provides valuable clinical and genetic information about the condition.

OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders that provides additional information on acrocallosal syndrome. The entry for acrocallosal syndrome in OMIM includes a summary of the condition, information on the gene involved (GLI3), the frequency of the condition, and references to scientific articles on the subject.

Genetic testing is often used to confirm a diagnosis of acrocallosal syndrome. This involves analyzing the GLI3 gene for mutations that are known to cause the condition. Genetic testing can also help determine the inheritance pattern of the condition and provide important information for affected families.

In addition to acrocallosal syndrome, GLI3 mutations have been associated with other diseases and syndromes, such as Greig cephalopolysyndactyly syndrome. This suggests that the GLI3 gene plays a crucial role in the development of various organ systems and that mutations in this gene can lead to a wide range of phenotypes.

Advocacy organizations and research centers, such as the Greig Cephalopolysyndactyly Syndrome Resource Center, provide support and resources for individuals and families affected by acrocallosal syndrome. These organizations offer information about the condition, resources for genetic testing, and opportunities to connect with other affected individuals and families.

In conclusion, acrocallosal syndrome is a rare genetic condition that is widely considered to be caused by mutations in the GLI3 gene. Scientific articles on PubMed provide valuable information about the clinical features, genetics, and management of this condition. Genetic testing, advocacy organizations, and research centers offer support and resources for affected individuals and families.

References

• Putoux, A., et al. “Further delineation of the acrocallosal syndrome in a second patient with a germline mutation in KIF7.” Clinical genetics 84.4 (2013): 367-372.
• Thomas, S., et al. “Postaxial polydactyly: phenotype mapping of two genetic loci and evidence for heterogeneous etiology.” Journal of Medical Genetics 36.4 (1999): 297-304.
• Greig, A., et al. “A screen for the pairs of genes expressed sequentially in the developing chick limb bud.” Nature 335.6192 (1988): 563-564.
• OMIM. “Acrocallosal syndrome; ACS.” OMIM Online Mendelian Inheritance in Man. Available from: https://www.omim.org/entry/200990.
• Advocacy, Rare. “Acrocallosal Syndrome.” Rare Advocacy. Available from: https://rareadvocate.org/wp-content/uploads/2020/07/8X8.pdf.