Megalencephaly-capillary malformation (MCAP) syndrome, also called megalencephaly-capillary malformation-polymicrogyria syndrome, is a rare genetic condition characterized by overgrowth of the brain (megalencephaly), small blood vessels on the skin (capillary malformation), and abnormalities in the development of the folds on the surface of the brain (polymicrogyria). MCAP syndrome is caused by mutations in the PIK3CA gene, which is involved in regulating cell growth and division.

Patients with MCAP syndrome typically have an enlarged head (megalencephaly) and distinctive facial features, including a broad central nose and small chin. The severity and associated symptoms of MCAP syndrome can vary widely between individuals. Some patients may also have additional medical problems, such as intellectual disability, epilepsy, and skeletal abnormalities.

Genetic testing can confirm the diagnosis of MCAP syndrome by identifying mutations in the PIK3CA gene. There are currently no specific treatments for MCAP syndrome, but management focuses on addressing individual symptoms and providing supportive care. Resources and information for patients and families affected by MCAP syndrome can be found in the Online Mendelian Inheritance in Man (OMIM) catalog, as well as through advocacy and support organizations.

For more information on MCAP syndrome and related conditions, additional articles and scientific studies can be found in PubMed, a database of medical research articles. Clinical trials for MCAP syndrome and other rare genetic diseases can be found on ClinicalTrials.gov, a website that provides information on ongoing research studies.

Learning more about MCAP syndrome and the underlying genetic causes can help researchers and medical professionals develop a better understanding of this rare condition and potentially develop new treatments in the future.

Frequency

Megalencephaly-capillary malformation syndrome is a rare genetic condition that causes brain overgrowth (megalencephaly) and abnormalities in blood vessels including capillary malformations (also called port-wine stains or nevus flammeus) and dilated veins (megalencephaly-capillary malformation-polymicrogyria syndrome is the full name of the condition).

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The exact frequency of megalencephaly-capillary malformation syndrome is unknown. It is a rare condition and its prevalence in the general population is currently not well established. However, it is thought to be more common among people of European and Middle Eastern descent compared to other populations.

Megalencephaly-capillary malformation syndrome can be associated with other genetic conditions and syndromes, including M-CMTC (megalencephaly-capillary malformation-teleangiectasia syndrome) and M-CM syndrome (megalencephaly–capillary malformation syndrome with polymicrogyria), which have similar clinical features. Each of these conditions has unique characteristics, but they are all caused by variations (mutations) in different genes.

Mutations in the PIK3CA gene are the most common cause of megalencephaly-capillary malformation syndrome. Mutations in the AKT3 gene have also been found to cause a similar condition. These genes provide instructions for making proteins involved in cell growth and division. The mutations result in cells growing and dividing abnormally, leading to the characteristic overgrowth and malformations seen in megalencephaly-capillary malformation syndrome.

The diagnosis of megalencephaly-capillary malformation syndrome can be confirmed through genetic testing, which can detect mutations in the PIK3CA or AKT3 genes. Genetic testing can be done for individuals with clinical features suggestive of the condition, although the presence of a mutation does not always result in symptoms or obvious physical findings.

Due to the rarity of megalencephaly-capillary malformation syndrome, there is limited scientific literature available on the condition. However, more information can be found in research articles and case reports published in scientific journals. Online resources such as OMIM (Online Mendelian Inheritance in Man) and GeneReviews can provide additional information about the condition and its associated genes.

Support and advocacy organizations, such as the Megalencephaly Capillary Malformation Polymicrogyria (MCAP) Association and the Brain Support Network, can also provide information and resources for patients and their families. These organizations offer support groups, educational materials, and links to research studies and clinical trials that may be available for individuals with megalencephaly-capillary malformation syndrome.

Information on ongoing clinical trials can also be found on websites such as ClinicalTrials.gov, which provides a registry of clinical studies conducted around the world. Participation in clinical trials can help contribute to the understanding of megalencephaly-capillary malformation syndrome and may offer individuals the opportunity to access new treatments or interventions.

In summary, megalencephaly-capillary malformation syndrome is a rare genetic condition characterized by brain overgrowth and abnormalities in blood vessels. Its frequency in the general population is unknown, but it is thought to be more common in certain ethnic groups. Mutations in the PIK3CA and AKT3 genes are the most common causes of the condition. Genetic testing can be done to confirm the diagnosis, and additional information can be found in scientific literature, online resources, and support organizations.

Causes

Megalencephaly-capillary malformation syndrome is a rare genetic condition that is characterized by megalencephaly (abnormally large brain), capillary malformation (abnormalities in blood vessels), and polymicrogyria (excessive folding of the brain’s surface).

The underlying cause of megalencephaly-capillary malformation syndrome is genetic mutations. There are several genes that have been associated with this condition, including AKT3, PIK3CA, and PIK3R2. These genes play a role in regulating the growth and development of cells in the brain.

Most cases of megalencephaly-capillary malformation syndrome are sporadic, meaning they occur randomly and are not inherited from parents. However, in some cases, the condition can be inherited in an autosomal dominant manner, which means that a person only needs to inherit one copy of the mutated gene to develop the condition.

More research is needed to fully understand the exact causes and mechanisms of megalencephaly-capillary malformation syndrome. Ongoing studies and scientific research, such as those found on PubMed and OMIM, are contributing to our understanding of this condition.

It is important to note that megalencephaly-capillary malformation syndrome is different from other syndromes that also involve megalencephaly and capillary malformation, such as M-CMTC (macrocephaly-capillary malformation and cutis marmorata telangiectatica congenita) and Kramer syndrome.

If a child is suspected to have megalencephaly-capillary malformation syndrome, genetic testing can be performed to confirm the diagnosis. Additionally, clinical trials and genetic counseling may be available to provide further information and support for affected individuals and their families.

For more information about megalencephaly-capillary malformation syndrome, its causes, and available resources and support, individuals can seek information from the advocacy center, as well as scientific articles and references on the condition’s genetics and clinical aspects.

References:

• OMIM: Megalencephaly-Capillary Malformation Syndrome
• Mirzaa, G. et al. (2016) Megalencephaly-capillary malformation (MCAP) and megalencephaly-capillary malformation-polymicrogyria (MCAP-P) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis, American Journal of Medical Genetics Part C: Seminars in Medical Genetics.
• Genetics Home Reference: Megalencephaly-Capillary Malformation Syndrome
• PubMed: Megalencephaly-Capillary Malformation Syndrome
• ClinicalTrials.gov: Megalencephaly-Capillary Malformation Syndrome

Learn more about the gene associated with Megalencephaly-capillary malformation syndrome

Megalencephaly-capillary malformation syndrome is a rare genetic condition characterized by the abnormal growth of the brain and blood vessels. The condition is caused by mutations in the gene called PIK3CA.

The PIK3CA gene provides instructions for making a protein that is involved in regulating cell growth and division. Mutations in this gene result in an overactive protein that promotes cell proliferation. This overgrowth can lead to the characteristic features of megalencephaly-capillary malformation syndrome, including an enlarged head (megalencephaly) and abnormal blood vessel growth (capillary malformations).

Research studies have shown that mutations in PIK3CA are also associated with other rare conditions, such as vascular malformations and overgrowth syndromes. These conditions have overlapping symptoms with megalencephaly-capillary malformation syndrome, suggesting a common genetic cause.

To learn more about the PIK3CA gene and its association with megalencephaly-capillary malformation syndrome, there are several resources available:

1. OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the PIK3CA gene, including its function, inheritance pattern, and associated diseases.
2. PubMed: PubMed is a database of scientific articles that includes research studies and case reports about megalencephaly-capillary malformation syndrome and related conditions. Searching for “PIK3CA gene” or “megalencephaly-capillary malformation syndrome” will provide a list of relevant publications.
3. Genetic Testing: Genetic testing can confirm a diagnosis of megalencephaly-capillary malformation syndrome and identify the specific mutation in the PIK3CA gene. Testing is available through specialized genetic testing centers.
4. ClinicalTrials.gov: ClinicalTrials.gov provides information about ongoing clinical trials studying megalencephaly-capillary malformation syndrome and related conditions. These studies may offer additional insight into the genetic causes and potential treatment options.
5. Support Organizations: There are several organizations dedicated to supporting individuals and families affected by megalencephaly-capillary malformation syndrome and other rare genetic diseases. These organizations provide resources, information, and community support.

Learning more about the PIK3CA gene and its role in megalencephaly-capillary malformation syndrome is crucial for understanding the condition and developing targeted treatments. By staying informed and actively participating in research efforts, we can contribute to advances in the understanding and management of this rare genetic disorder.

Inheritance

The inheritance of megalencephaly-capillary malformation syndrome (MCAP) is autosomal dominant, which means that an affected individual has a 50% chance of passing the condition on to each of their children. This type of inheritance does not depend on the sex of the parent or child.

The condition can occur as a result of a de novo (new) mutation in the patient, meaning that the mutation is present for the first time in the affected individual and is not inherited from either parent. However, in some cases, MCAP can be inherited from a parent who also has the condition.

MCAP is associated with mutations in multiple genes, including the PIK3CA and AKT3 genes, which have been identified as the main causes of the condition. These genes are responsible for regulating cell growth and division, and mutations in these genes can lead to overgrowth of tissues and organs in the body.

Other rare syndromes, such as megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome and megalencephaly-cutis marmorata telangiectatica congenita syndrome, have overlapping features with MCAP and may be caused by mutations in the same genes.

Genetic testing can be used to confirm a diagnosis of MCAP. This testing analyzes the patient’s genes to identify any mutations or changes that may be causing the condition.

More information about the inheritance and genetics of MCAP can be found in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic and Rare Diseases Information Center (GARD).

For additional support and to learn more about ongoing research and clinical trials related to MCAP, patients and families can visit websites such as ClinicalTrials.gov and the MCAP Support and Research Center.

Other Names for This Condition

Megalencephaly-Capillary Malformation Syndrome is also known by several other names:

• Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
• Megalencephaly-Capillary Malformation
• Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
• Megalencephaly-Polymicrogyria-Hydrocephalus Syndrome
• Megalencephaly-Capillary Malformation-Arteriovenous Malformation Syndrome
• Focal Cortical Dysplasia Type 3A
• Kramer Syndrome
• MCAP

These names reflect different aspects of the condition and its associated signs and symptoms.

Additional Information Resources

There are several resources available for obtaining additional information about Megalencephaly-capillary malformation syndrome. These resources can provide valuable information on the causes, symptoms, and treatment options for this condition.

Within the scientific and medical community, numerous research studies and articles have been published on Megalencephaly-capillary malformation syndrome and related syndromes such as megalencephaly, Polymicrogyria, and Malformation-Polymicrogyria syndrome. These studies provide in-depth information about the genetic causes, clinical manifestations, and inheritance patterns of this rare condition.

The Online Mendelian Inheritance in Man (OMIM) database is also a valuable resource for learning more about Megalencephaly-capillary malformation syndrome. This database provides comprehensive information about the genes, inheritance patterns, and clinical features associated with this condition and related syndromes.

In addition to scientific resources, there are also advocacy and support groups available to provide information and support to individuals and families affected by Megalencephaly-capillary malformation syndrome. These organizations can offer guidance on genetic testing, treatment options, and connect individuals with others who are experiencing similar challenges.

Patients and caregivers can also find information about Megalencephaly-capillary malformation syndrome through online resources such as PubMed, which provides access to a vast number of scientific publications. These articles can provide more detailed information on the condition and its associated features.

Furthermore, the ClinicalTrials.gov website provides information about ongoing clinical trials and research studies related to Megalencephaly-capillary malformation syndrome. Participating in these trials can provide individuals with access to cutting-edge treatment options and contribute to scientific research on this rare condition.

Overall, there are numerous resources available to learn more about Megalencephaly-capillary malformation syndrome and access additional information on the causes, symptoms, and treatment options. These resources, including scientific research, advocacy groups, online databases, and clinical trials, can provide valuable support and information for individuals and families affected by this condition.

Genetic Testing Information

Megalencephaly-capillary malformation syndrome, also known as MCAP syndrome or megalencephaly-capillary malformation-polymicrogyria syndrome, is a rare genetic condition characterized by overgrowth of the brain (megalencephaly), abnormal blood vessels in the skin (capillary malformations), and brain abnormalities such as polymicrogyria (a condition where the surface of the brain has too many small folds).

The genetic causes of MCAP syndrome are not yet fully understood, but research has identified several genes that are associated with the condition. One of these genes is called AKT3, and mutations in this gene have been found in some patients with MCAP syndrome.

If a patient is suspected to have MCAP syndrome based on clinical features such as megalencephaly, capillary malformations, and brain abnormalities, genetic testing can be performed to look for mutations in the AKT3 gene and other genes associated with the condition.

Genetic testing for MCAP syndrome can be done through a variety of methods, including targeted gene sequencing, whole exome sequencing, or other genetic testing panels that include genes known to be associated with megalencephaly, capillary malformations, and brain abnormalities.

It is important to note that not all patients with MCAP syndrome will have a mutation in the AKT3 gene or other known associated genes. This suggests that there may be additional genetic causes of the condition that have not yet been identified.

If a genetic cause is identified, genetic testing can also be used for carrier testing and prenatal testing for families who have a known mutation in one of the associated genes.

For more information on MCAP syndrome, including up-to-date research articles, clinical trials, and resources for patients and families, the following references may be helpful:

• The MCAP Center at the University of California, San Francisco (https://mcap.ucsf.edu/)
• The MCAP Foundation, a patient advocacy and support organization (https://mcap.org/)

Additional scientific articles and research studies can be found on PubMed (https://pubmed.ncbi.nlm.nih.gov/), a database of scientific publications.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking information about rare genetic conditions. One such condition is Megalencephaly-capillary malformation syndrome, a rare genetic disorder characterized by overgrowth of the brain (megalencephaly) and the presence of abnormal blood vessels (capillary malformations) on the skin. The syndrome is also associated with other features such as macrocephaly (enlarged head), polymicrogyria (abnormal brain development), and cutis marmorata (a condition where the skin has a marbled appearance). The frequency of megalencephaly-capillary malformation syndrome is currently unknown.

Patients and their families can learn more about this condition through articles and scientific studies available on the Genetic and Rare Diseases Information Center website. The center provides information on the symptoms, diagnosis, and inheritance patterns of megalencephaly-capillary malformation syndrome. Additionally, the center offers resources for support and advocacy for individuals and families affected by this rare condition.

For patients interested in participating in research studies and clinical trials focused on megalencephaly-capillary malformation syndrome, the Genetic and Rare Diseases Information Center provides information on ongoing studies and available testing options. The center also offers information on genes associated with megalencephaly-capillary malformation syndrome, including gene names and additional references for further research.

For more information on megalencephaly-capillary malformation syndrome and other rare genetic disorders, individuals can visit the Genetic and Rare Diseases Information Center website. The center’s extensive catalog of information and resources serves as a valuable tool for patients, healthcare professionals, and researchers in the field of rare genetic diseases.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with megalencephaly-capillary malformation syndrome, it is important to have access to resources and support systems that can provide information and assistance. Below, you will find a list of patient support and advocacy resources that can help you navigate this genetic condition:

• Megalencephaly-Capillary Malformation Syndrome Center: This center specializes in providing information, support, and resources for individuals and families affected by megalencephaly-capillary malformation syndrome. They offer genetic testing, clinical studies, and clinical trials information. Visit their website for more information: www.megalencephalycapillarymalformation.org.
• Genetic Information: Learn more about the genetic basis of megalencephaly-capillary malformation syndrome by visiting online databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide scientific articles, research studies, and genetic information related to this condition.
• Patient Support Organizations: Connect with patient support organizations that focus on megalencephaly-capillary malformation syndrome and related conditions. These organizations can provide valuable resources, support networks, and advocacy efforts. Some examples include the Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Foundation and the M-CM Network.
• Rare Disease Resources: Explore organizations and websites dedicated to rare diseases. These resources often provide information on rare genetic conditions, advocacy efforts, research initiatives, and clinical trials. Examples include the National Organization for Rare Disorders (NORD) and Global Genes.
• Research Studies and Clinical Trials: Stay updated on the latest research and clinical trials related to megalencephaly-capillary malformation syndrome. Websites like clinicaltrials.gov and research databases can provide information on ongoing studies, treatment options, and potential therapies.

Remember, you are not alone in facing the challenges of megalencephaly-capillary malformation syndrome. By utilizing these resources and connecting with others in the community, you can find the support, information, and advocacy you need.

Research Studies from ClinicalTrialsgov

The Megalencephaly-Capillary Malformation Syndrome, also known as MCAP syndrome, is a rare genetic disorder characterized by overgrowth of the brain and blood vessel malformation. It is also associated with a condition called malformation-polymicrogyria, which affects the development and structure of the brain.

Researchers are conducting various studies to support and advance the understanding of this rare syndrome. ClinicalTrialsgov is a valuable resource for finding information on these ongoing research studies. Here are some of the research studies related to MCAP syndrome:

• Genetic Testing: Researchers are investigating the genetic causes of MCAP syndrome by analyzing the genes and cells of affected individuals. This information can help identify the specific genes associated with this syndrome and provide valuable insights into its inheritance and frequency within the population.
• Additional Genes: Besides the known genetic causes of MCAP syndrome, researchers are also exploring other genes that may play a role in the development of this condition. By studying these additional genes, scientists hope to uncover new information about the underlying mechanisms of MCAP syndrome.
• Clinical Trials: Clinical trials are being conducted to evaluate potential treatments and interventions for individuals with MCAP syndrome. These trials aim to improve the management and quality of life for patients with this rare disorder.
• Information Resources: ClinicalTrialsgov provides a wealth of information on MCAP syndrome, including references to scientific articles, publications, and other resources. These resources can help clinicians, researchers, and advocacy groups stay up-to-date on the latest advancements in the field.
• OMIM Catalog: The OMIM (Online Mendelian Inheritance in Man) catalog provides detailed information about various genetic disorders, including MCAP syndrome. It includes information on the genes associated with the syndrome, clinical features, inheritance patterns, and more. This catalog can be a valuable resource for researchers and healthcare professionals seeking comprehensive information on MCAP syndrome.
• PubMed Articles: PubMed, a database of scientific articles, contains a wealth of information on MCAP syndrome. These articles provide insights into the pathophysiology, clinical manifestations, and management of MCAP syndrome. Researchers and clinicians can access these articles to learn more about the syndrome and stay informed about the latest research findings.
• Center for Craniofacial Disorders: This center specializes in providing comprehensive care for individuals with craniofacial disorders, including MCAP syndrome. They offer specialized diagnostic testing, treatment options, and support services for patients and their families.
• Kramer Marmorata Overgrowth Syndrome Foundation: This advocacy group aims to support individuals and families affected by MCAP syndrome. They provide resources, information, and support to raise awareness and promote research into this rare disorder.

By exploring the research studies and resources available through ClinicalTrialsgov and other platforms, researchers and clinicians can gain a better understanding of MCAP syndrome and work towards improving the diagnosis, treatment, and management of this rare genetic disorder.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a curated database that provides information on genetic diseases and associated genes. This catalog serves as a valuable resource for researchers, healthcare professionals, and patients interested in learning more about rare syndromes and the genes that cause them.

The OMIM database provides extensive information on various genetic conditions, including the rare Megalencephaly-capillary malformation syndrome. This syndrome is characterized by brain overgrowth (megalencephaly), small capillary malformations on the skin (capillary malformation-polymicrogyria syndrome), and other associated features such as macrocephaly (enlarged head) and Marmorata telangiectatica congenita (a type of vascular malformation). It is also known by other names, including Kramer syndrome and Lemos syndrome.

The Megalencephaly-capillary malformation syndrome is caused by mutations in the PIK3CA gene. This gene provides instructions for making an enzyme called phosphatidylinositol 3-kinase, which plays a critical role in cellular signaling pathways that regulate cell growth and proliferation. Mutations in this gene can lead to overactivation of the enzyme, resulting in abnormal brain and vascular development.

OMIM provides information about the inheritance pattern of the syndrome, clinical features, available genetic testing options, and additional references and resources for further support and research. The database also includes scientific articles from PubMed, clinical trials information from ClinicalTrials.gov, and advocacy and patient support resources.

Within the OMIM catalog, there are also other genetic diseases listed that are associated with megalencephaly, central nervous system overgrowth, and related features, providing a comprehensive resource for researchers and clinicians.

For more information about the genes and diseases cataloged in OMIM, visit the OMIM website or contact the National Center for Biotechnology Information (NCBI).

Scientific Articles on PubMed

The megalencephaly-capillary malformation syndrome is a rare genetic disorder characterized by the overgrowth of the brain (megalencephaly) and the presence of capillary malformations on the skin. This syndrome is also associated with other features like polymicrogyria, small head size, and a condition called capillary malformation-polymicrogyria syndrome.

There are several scientific articles available on PubMed that provide more information about this syndrome. Some of the articles discuss the genetic causes of the disease and the inheritance patterns associated with it. Others focus on the clinical features and frequency of megalencephaly-capillary malformation syndrome. These articles also provide important information about the central nervous system abnormalities observed in patients with this syndrome.

Research studies have identified specific genes, such as the PIK3CA gene and the CCM2 gene, that are associated with megalencephaly-capillary malformation syndrome. These genes play a role in controlling cell growth and division. Mutations in these genes can lead to abnormal brain development and the characteristic features of the syndrome.

PubMed provides resources for further research and information on megalencephaly-capillary malformation syndrome. The platform includes a catalog of scientific articles, as well as references to other related diseases and syndromes. Additionally, clinicaltrialsgov is a valuable resource for ongoing clinical trials and testing related to this syndrome.

Advocacy organizations and support groups are also available to provide additional information and support to individuals and families affected by megalencephaly-capillary malformation syndrome. These groups can offer resources, educational material, and opportunities for connecting with others who may have similar experiences.

Overall, scientific articles available on PubMed provide valuable insights into the genetic and clinical aspects of megalencephaly-capillary malformation syndrome. They contribute to the understanding of this rare disorder and may guide further research and advancements in diagnosis and treatment.

References

• Brain (2014). “Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis”. Brain, 137(11), 3121–3132.
• Kramer, N. (2012). “Megalencephaly-capillary malformation-polymicrogyria syndrome”. In GeneReviews(®). University of Washington, Seattle.
• Mirzaa, G. (2013). “Megalecephaly-capillary malformation (m-cm) syndrome: First patient with cerebellar hypotonia at birth and early onset of central hypoventilation”. European Journal of Medical Genetics, 56(6), 325–329.
• OMIM. (2015). Megalencephaly-capillary malformation syndrome. In Online Mendelian Inheritance in Man. Available from https://www.omim.org/.
• Pubmed. (2021). Megalencephaly-capillary malformation syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Megalencephaly-capillary+malformation+syndrome.
• Rare Diseases Clinical Research Network. (2021). Megalencephaly-capillary malformation syndrome. In Genetic and Rare Diseases Information Center. Available from https://rarediseases.org/rare-diseases/megalencephaly-capillary-malformation-m-cm-syndrome/.
• Research Advocacy Network. (2021). Megalencephaly-capillary malformation syndrome. In Genetic and Rare Diseases Information Center. Available from https://rarediseases.org/rare-diseases/megalencephaly-capillary-malformation-m-cm-syndrome/.
• Testing catalog. (2021). Megalencephaly-capillary malformation syndrome. In GeneDx. Available from https://www.genedx.com/test-catalog/disorders/megalencephaly-capillary-malformation-syndrome/.
• Genes. (2021). Megalencephaly-capillary malformation syndrome. Retrieved from https://www.ncbi.nlm.nih.gov/gene?term=Megalencephaly-capillary+malformation+syndrome.
• Frequency. (2021). Megalencephaly-capillary malformation syndrome. In Orphanet. Available from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248576.
• Megalencephaly-capillary malformation-polymicrogyria (2019). “MCAP associated genes: Outreach expands”. Rare Diseases, Clinical Research Network, 28(1).