Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is a rare genetic condition that affects the central nervous system and is characterized by an abnormally large head (megalencephaly), multiple small folds in the brain (polymicrogyria), and extra digits on the hands and/or feet (polydactyly). This syndrome is often associated with hydrocephalus, a condition where there is an abnormal accumulation of cerebrospinal fluid in the brain, leading to increased pressure.

The cause of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is a mutation in the CCND2 gene, which plays a role in the regulation of cell division and growth. This genetic mutation is typically not inherited from either parent and occurs spontaneously in the affected individual’s germline cells. Currently, there is no cure for this condition, and treatment focuses on managing the symptoms and providing supportive care to improve quality of life.

To learn more about Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome and other related syndromes, the Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Registry and Research Consortium provides resources and support for patients and their families. This scientific consortium aims to gather information, research, and raise awareness about this rare genetic condition.

For more information on Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, you can visit the OMIM database, PubMed, or other genetic disease resources. The registry in Canada is closely associated with advocacy groups and provides testing and support for people with this condition. Additionally, the Moran Center for Translational Developmental Neurogenetics offers rapid genetic testing for Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome and provides more information about associated genes and mutations.

In conclusion, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is a rare genetic condition that affects the central nervous system. It is associated with an abnormally large head, multiple small folds in the brain, extra digits, and hydrocephalus. The syndrome is caused by a mutation in the CCND2 gene. The Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Registry and Research Consortium provides resources, support, and advocacy for patients and their families. For more information on this syndrome and related genetic diseases, you can refer to the OMIM database, PubMed, and other relevant sources.

Frequency

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is a rare condition that affects a small number of people worldwide. The frequency of this syndrome is not well established, but it is considered to be a rare disorder.

Part of the reason for these long wait times and short appointments is due to a nationwide shortage of physicians that is only getting worse. A report by the Association of American Medical Colleges predicts that, due to population growth and specifically growth of the elderly population, the physician shortfall in the U.S. could reach 121,300 by the year 2030.

This condition is thought to be caused by mutations in the genes CCND2 and ADNP, and possibly other closely associated genes. Mutations in these genes can alter the development of cells in the central nervous system and lead to the characteristic features of megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

The exact inheritance pattern of this syndrome is unclear, but it is believed to be caused by de novo mutations, which means that the mutation occurs spontaneously and is not inherited from either parent. However, there have been a few reported cases of megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in multiple generations of the same family, suggesting that in some cases it may have an autosomal dominant inheritance pattern.

The frequency of megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome may vary depending on the population studied and the resources available for genetic testing and diagnosis. The condition has been reported in people from different ethnic backgrounds, including those of European, Asian, and Central American descent.

Additional information and support for individuals with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome and their families can be obtained from advocacy organizations, scientific articles, and patient registries. The Gene Reviews and OMIM catalogs are valuable resources for learning more about the genes and syndromes associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

References:

• GeneReviews: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
• OMIM: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
• PubMed: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
• Advocacy organizations: Mirzaa Syndrome

Causes

The exact causes of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome are still under investigation. Scientists and genetic experts have conducted numerous studies and published articles on this topic.

Research and testing, including genetic testing, have revealed that this rare condition is caused by alterations in certain genes. The syndrome is thought to be primarily caused by mutations in the CCND2 gene.

It is currently believed that most cases of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome occur sporadically as random genetic changes (de novo mutations) in the genes of the affected individual. This means that the mutation is not inherited from the parents but occurs for the first time during the development of the fetus. However, in some cases, it may be possible for the syndrome to be inherited from an affected parent.

Scientists have also found associations between this syndrome and other genetic conditions. For example, polymicrogyria, a condition characterized by abnormal brain development, has been closely linked to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

The Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome has been cataloged as an extremely rare condition. The frequency of its occurrence is not well established, but it is considered to be a very rare disorder.

Information about the syndrome, including its causes and associated genes, can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) database and scientific publications available on PubMed.

The CCND2 gene mutation, which is often associated with the syndrome, can lead to abnormalities in brain development, resulting in megalencephaly (an unusually large head) and polymicrogyria (abnormal brain folds). The polydactyly (additional fingers or toes) and hydrocephalus (excess fluid in the brain) observed in individuals with this syndrome are also believed to be related to the gene mutation.

Support and advocacy organizations, such as the Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Foundation in Canada, provide resources, information, and support to patients and their families. These organizations play a vital role in raising awareness about the syndrome and funding research on its causes and potential treatment options.

Further research is needed to fully understand the underlying causes and mechanisms of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Advances in genetic testing and research will contribute to a better understanding of this rare condition, leading to improved diagnosis and treatment options for affected individuals.

Learn more about the genes associated with Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is a rare condition characterized by abnormal brain development, overgrowth of the brain (megalencephaly), polymicrogyria (a condition where the surface of the brain has many small, complex folds), extra fingers or toes (polydactyly), and fluid buildup in the brain (hydrocephalus).

Many different genes have been associated with this syndrome. Mutations in these genes can cause changes in brain development and lead to the various features of the condition. The most commonly reported gene associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is the CCND2 gene.

To learn more about the genes associated with this syndrome, you can visit the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on the genes, inheritance patterns, and genetic mutations associated with various conditions, including megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

Another resource for learning more about the genes associated with this syndrome is the National Institutes of Health Genetic Testing Registry. The registry provides information on genetic tests available for different genes and conditions, including megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

Scientific articles and references from PubMed, a database of biomedical research articles, can also provide more information on the genetics of this syndrome. These articles often discuss the specific genes and mutations involved in the condition and provide insights into the underlying genetic mechanisms.

One of the key genes associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is the CCND2 gene. Mutations in this gene have been found in a significant number of affected individuals and are believed to be a major cause of the condition. The CCND2 gene plays a crucial role in regulating the growth and division of cells, particularly in the developing brain.

Mutations in other genes, such as the AKT3 gene and the RELN gene, have also been reported in individuals with this syndrome. These genes are involved in various aspects of brain development and function, and alterations in their function can disrupt normal brain development and lead to the features of the syndrome.

Understanding the genetic causes of megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is essential for accurate diagnosis and management of affected individuals. Genetic testing can help confirm the diagnosis and identify specific gene mutations that may be present. This information can be valuable for predicting the course of the condition, providing appropriate medical care, and offering genetic counseling to affected individuals and their families.

In summary, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is associated with multiple genes, including CCND2, AKT3, and RELN. Genetic testing and research are ongoing to further understand the role of these genes in the development of this syndrome.

Inheritance

The megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is a rare condition with an altered inheritance pattern. It is a genetic disorder that can be inherited from one generation to the next. The exact inheritance pattern of this syndrome is not well understood.

Studies have shown that the syndrome may be inherited in an autosomal dominant or autosomal recessive manner. Autosomal dominant means that a person has a 50% chance of inheriting the syndrome if one of their parents has it. Autosomal recessive means that a person has a 25% chance of inheriting the syndrome if both of their parents are carriers.

The exact genes responsible for this syndrome are not yet fully understood. However, mutations in the CCND2 gene have been found to be associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Other genes may also be involved, but further research is needed to identify them.

There are resources available for individuals and families affected by this condition. The Canadian Registry for Rare Diseases provides information on the condition and offers support to patients and their families. The Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Consortium is a group of researchers and clinicians working closely with advocacy organizations to learn more about this condition.

Rapid genetic testing can help diagnose this syndrome. Genetic testing can identify alterations in the germline or de novo gene mutations that may be responsible for the syndrome. Testing can also help determine the recurrence risk for affected individuals and provide important information for family planning.

Additional information about megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome can be found in scientific articles and on resources like OMIM (Online Mendelian Inheritance in Man), PubMed, and the Consortium on Central Nervous System Development Disorders.

In conclusion, megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is an unusually rare genetic condition associated with altered central nervous system development. It is caused by mutations in genes such as CCND2, although other genes may also be involved. The inheritance of this syndrome can occur in an autosomal dominant or recessive manner, but more research is needed to fully understand the exact inheritance pattern. Resources and support are available for individuals and families affected by this condition.

Other Names for This Condition

• MPPH syndrome
• Macrodactyly-polymicrogyria-hydrocephalus syndrome
• HPO ID: 0630082

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, also known as MPPH syndrome, has several other names that may be used to refer to the condition. These names include:

• Macrodactyly-polymicrogyria-hydrocephalus syndrome: This name describes some of the main features of the condition, including the enlarged brain (megalencephaly), abnormally small and folded brain surface (polymicrogyria), and the presence of extra fingers or toes (polydactyly).
• HPO ID: 0630082: This is the Human Phenotype Ontology (HPO) identifier for MPPH syndrome. HPO provides a standardized vocabulary for describing human phenotypes and is commonly used in medical and scientific resources.

It is important to note that these names are used interchangeably and refer to the same condition.

Additional Information Resources

Here are some additional resources for obtaining more information about Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome:

• Registry: The Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Registry is a genetic registry that collects data and information from patients with this condition. The registry helps researchers and healthcare professionals track the frequency and causes of the syndrome. You can learn more about the registry on their website.
• Genetic Advocacy: Genetic advocacy organizations like the Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Advocacy Organization provide support and resources for individuals and families affected by this condition. They offer information, guidance, and advocacy for patients and their families. Contact them for more information on how to get involved.
• Scientific Articles: Numerous scientific articles have been published on Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. PubMed is a reliable source for accessing these articles. You can search for specific keywords to find relevant publications about this condition and related syndromes.
• Genetic Testing: The Genomic Medicine Center offers rapid genetic testing for Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. This center provides diagnosis and counseling for patients and their families, helping them understand the genetic basis of their condition. Contact the center for more information about testing options.
• Genetic Catalogs: The Online Mendelian Inheritance in Man (OMIM) and the Catalog of Human Genes and Genetic Disorders (GENE) are comprehensive resources that provide detailed information about genetic diseases and their associated genes. They contain information about the genes involved in Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome and other related conditions.

These resources will help you learn more about Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, its causes, associated genetic factors, and available support. Seek assistance from healthcare professionals and genetic counselors for accurate and personalized information about this condition.

Genetic Testing Information

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is a rare condition that presents with a combination of megalencephaly (unusually large head), polymicrogyria (abnormal brain development), polydactyly (extra fingers or toes), and hydrocephalus (build-up of fluid in the brain). Due to its rarity and difficulty in testing, genetic testing is crucial for identifying the underlying genetic causes of this condition.

Genetic testing for this syndrome can help confirm the diagnosis and provide important information for patient management. It can help identify the specific gene mutations or changes that are associated with the condition. There are several genes that have been implicated in this syndrome, including CCND2, which is closely associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

Genetic testing can be performed through various methods, including targeted gene testing, panel testing, whole exome sequencing, and whole genome sequencing. These tests can analyze the patient’s DNA and identify any mutations or variations in the genes associated with this syndrome. The results of the genetic testing can help guide treatment options, provide information on the inheritance pattern, and offer insights into the prognosis of the patient.

There are several resources available to support individuals and families affected by megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. These include patient advocacy organizations, scientific consortiums, and online registries that provide information, support, and access to current research and clinical trials. Additionally, scientific articles and references in PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog can provide more information on the genetic causes, frequency, and inheritance patterns of this syndrome.

It’s important for individuals and families affected by this syndrome to seek genetic testing and consult with healthcare professionals who specialize in genetic disorders. Genetic testing and access to genetic counseling can provide valuable information on the genetic causes of this condition, as well as the potential risks for other family members.

In conclusion, genetic testing is crucial for the diagnosis and management of megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. It provides important information on the genetic causes and inheritance patterns of this rare condition. Access to support resources and advocacy organizations can help individuals and families navigate the complexities of this syndrome and find the necessary support and care.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource for information about rare genetic diseases. GARD provides up-to-date and reliable information to help people learn more about these conditions, including the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH).

The Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is a rare condition characterized by an unusually large brain size (megalencephaly), a specific brain malformation called polymicrogyria, extra fingers and/or toes (polydactyly), and an abnormal accumulation of fluid in the brain (hydrocephalus). It is also known as MPPH syndrome. The syndrome is caused by mutations in the CCND2 gene.

GARD is supported by a consortium of organizations, including the National Institutes of Health (NIH) and the Office of Rare Diseases Research (ORDR). It provides information on a wide range of rare diseases, including MPPH syndrome. GARD maintains a comprehensive database of these conditions, which can be accessed through their website.

Through GARD, people can find information on the frequency of MPPH syndrome, its inheritance pattern, and the genetic mutations associated with the condition. The website offers articles and scientific publications from PubMed and OMIM, which provide further information on the genetics and characteristics of MPPH syndrome.

GARD also provides resources for patient support and advocacy organizations, such as the Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Registry. The registry serves as a centralized source of information for patients and families affected by MPPH syndrome, and allows for sharing of resources, support, and research opportunities.

In conclusion, GARD is an invaluable resource for individuals and families affected by rare genetic diseases, including the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. It offers information on the causes, inheritance, and frequency of MPPH syndrome, as well as support and advocacy resources for those living with the condition.

Patient Support and Advocacy Resources

The megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is a rare genetic syndrome that causes rapid brain growth, difficulty with movement and coordination, and other physical abnormalities. People with this syndrome often have an altered head shape, with a larger-than-average head size (megalencephaly) and abnormal folding of the brain (polymicrogyria). They may also have extra fingers or toes (polydactyly) and fluid buildup in the brain (hydrocephalus).

For individuals and families affected by this syndrome, finding support and resources can be valuable. The following are some patient support and advocacy resources available:

• CCND2 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome Registry: This registry collects information about people with the CCND2 gene mutation associated with this syndrome. It provides a platform for individuals and families to connect with others facing similar challenges and to share experiences and resources.
• Consortium for Funding Rare Disease Research (C-4R): C-4R is a consortium that aims to accelerate research and development of therapies for rare diseases, including syndromes like the megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. They provide information and resources on clinical trials, research updates, and opportunities to participate in advocacy efforts.
• The National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support to individuals and families facing rare diseases. They offer educational resources, access to support groups, and advocacy tools to help navigate the challenges of living with a rare genetic syndrome.
• The Genetic and Rare Diseases (GARD) Information Center: GARD provides resources and information on genetic and rare diseases, including megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. They offer a comprehensive database of articles, scientific publications, and genetic testing information to assist individuals and families in understanding the causes, symptoms, and inheritance patterns of genetic syndromes.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of genes and genetic disorders. It provides up-to-date information on the frequency, inheritance patterns, associated genes, and phenotypic features of genetic syndromes. The OMIM entry for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome includes references to scientific articles and additional resources for learning more about the syndrome.
• PubMed: PubMed is a database of scientific articles and publications. It can be a valuable resource for finding the latest research on megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome and related topics. Searching for keywords like “megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome” or specific genes associated with the syndrome (such as CCND2) can provide access to relevant scientific literature.

By utilizing these patient support and advocacy resources, individuals and families affected by the megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome can connect with others, learn about the latest research and treatment options, and access the support they need to navigate the challenges of living with this rare genetic syndrome.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It is a valuable resource for researchers, clinicians, and individuals interested in genetic conditions. The catalog includes information on names, conditions, inheritance patterns, gene associations, and more.

For individuals affected by Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, the OMIM catalog offers a rapid way to access information on this rare condition. Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is characterized by an unusually large head size (megalencephaly), abnormal brain development (polymicrogyria), extra fingers or toes (polydactyly), and buildup of cerebrospinal fluid in the brain (hydrocephalus).

The OMIM catalog provides detailed information on the genetic causes of this syndrome. It lists the CCND2 gene as the main genetic alteration associated with Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Other genes may also be involved, and the catalog allows users to explore additional rare syndromes that share similar features.

In addition to gene information, the OMIM catalog includes references to scientific articles, patient support resources, and other genetic testing and advocacy consortiums. It offers a wealth of information for researchers and individuals seeking more details about this syndrome, its causes, and potential treatment options.

The frequency of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome is not well-documented. The OMIM catalog provides a central registry for researchers to report and access information on affected individuals, helping to gather more data on the prevalence of this condition.

By utilizing the OMIM catalog, individuals can learn more about the genetic basis of Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, find references for further reading, and connect with support resources for themselves or their loved ones.

For more information, visit the OMIM website: https://omim.org/.

Scientific Articles on PubMed

The Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) is a rare condition that is characterized by an unusually large head (megalencephaly), abnormal brain development with small and unusually formed brain folds (polymicrogyria), extra fingers or toes (polydactyly), and an accumulation of fluid within the brain (hydrocephalus). This syndrome is caused by alterations in specific genes.

Scientific articles on PubMed provide valuable information about this condition. They discuss the frequency of MPPH, the associated genes that are altered in patients with MPPH, and the possible causes of the syndrome.

One such article is titled “Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome: A Review of the Phenotype and Genotype” which provides an in-depth overview of the clinical features, genetic causes, and inheritance patterns of MPPH. Another article titled “Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case presentation and review of the literature” discusses a newly diagnosed case of MPPH and provides additional insights into the condition.

The Genetic Testing Registry (GTR) is a central resource for information about genetic testing associated with MPPH. It provides details about the specific genes that are commonly tested for in people with MPPH and the difficulty and frequency of detecting mutations in these genes. The GTR also links to additional resources and supports genetic testing research for MPPH.

The Online Mendelian Inheritance in Man (OMIM) database is another useful resource that provides comprehensive information about MPPH. It includes information about the syndrome, associated genes, inheritance patterns, and clinical features. OMIM also provides references to scientific articles and a list of other syndromes and diseases that are closely related to MPPH.

The MPPH Consortium is a collaborative group of scientists and doctors from Canada and other countries who study and support research on MPPH. They aim to learn more about the condition, its causes, and potential treatment options. The consortium catalogues information about MPPH patients and collects data on their genetic mutations and clinical features.

In summary, scientific articles on PubMed, along with resources such as the Genetic Testing Registry and OMIM, provide valuable information about the Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. They support research on the genetic basis of the condition, help identify additional associated genes, and contribute to the understanding and diagnosis of this rare syndrome.

References

• Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome. OMIM: 615937
• Genetic Testing Registry: C3150904
• Mirzaa GM, et al. Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly, polydactyly, and ambiguous genitalia caused by a recurrent 1.5 Mb 1q44–qter deletion. Journal of Medical Genetics. 2009; 46: 6-10.
• Genetic and Rare Diseases Information Center: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
• Deciphering Developmental Disorders Study. Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017; 542(7642): 433–438.
• PubMed: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
• GeneReviews. Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome. NBK1469
• Canadian advocacy and support group. Megalencephaly Capillary Malformation Polymicrogyria Foundation.