3MC syndrome is a rare genetic disorder that affects multiple systems in the human body. It is characterized by the combination of several features, including craniosynostosis (premature fusion of the skull bones), facial dysmorphism (abnormal facial features), and intellectual disability.

This syndrome is named after the initials of the three original patients with the condition, whose names start with M, M, and C. The features of 3MC syndrome can vary widely among affected individuals, making it difficult to diagnose based on clinical features alone.

The inheritance pattern of 3MC syndrome is not fully understood. However, recent research suggests that it may be caused by mutations in several genes involved in the development and function of various organs and tissues, including the eyelids, cranial bones, and salivary glands.

There are currently three genes known to be associated with 3MC syndrome: MASP1, COLEC10, and COLEC11. Mutations in these genes have been found in some patients with the condition, but the exact cause of 3MC syndrome in other cases remains unknown.

Due to its rarity and diverse clinical presentation, 3MC syndrome can be challenging to diagnose. Genetic testing can provide more information about the cause of the condition, and may help in identifying other affected family members. Additional resources, such as articles in scientific journals and online databases like OMIM and PubMed, provide further information for healthcare professionals and researchers to better understand this rare syndrome.

Frequency

The 3MC syndrome is a rare genetic condition and is cataloged under the name “3MC syndrome 1” in the Online Mendelian Inheritance in Man (OMIM) database. It is a very rare condition, with only a few reported cases in the scientific literature. The syndrome was first identified in 1998 by Lees and Michels.

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In patients with the 3MC syndrome, mutations in the MASP1 and/or COLEC11 genes have been identified as the underlying cause. However, in some patients, no mutations in these genes have been found, indicating that there may be additional genetic causes for this syndrome that are yet to be discovered.

The exact frequency of the 3MC syndrome is not well-known due to its rarity. However, it is estimated to occur in less than 1 in 1,000,000 individuals. This makes it a very rare condition.

The 3MC syndrome is associated with a wide range of symptoms and features. Some of the most common characteristics include facial dysmorphism, such as cleft lip and/or palate, hypertelorism (widely spaced eyes), and blepharophimosis (narrowing of the eyelid opening). Other associated features may include intellectual disability, developmental delays, and abnormalities in the urogenital, skeletal, and gastrointestinal systems.

Due to the rarity of the 3MC syndrome, there is limited information and scientific research available on this condition. However, there are organizations and patient advocacy groups that provide support and resources for patients and their families. They aim to raise awareness and provide information on the syndrome, as well as support for those affected.

Genetic testing is available for the 3MC syndrome to confirm a diagnosis and identify the underlying genetic cause. This can be done through targeted sequencing of the MASP1 and COLEC11 genes, as well as other genes that may be involved in the development of the syndrome.

For more information about the 3MC syndrome, its causes, symptoms, and treatment options, the following resources can be useful:

• The 3MC Syndrome Patient Support and Advocacy Group
• The Online Mendelian Inheritance in Man (OMIM) database
• The PubMed database for scientific articles on the 3MC syndrome

In conclusion, the 3MC syndrome is a rare genetic condition with a frequency of less than 1 in 1,000,000 individuals. It is associated with a wide range of symptoms and features, and genetic testing is available for diagnosis. Patient advocacy groups and scientific databases provide additional support and information on this condition.

Causes

The causes of 3MC syndrome are not well understood. Scientists continue to learn more about this condition, with the hope of finding a cure or better treatment options.

According to scientific research articles available on PubMed, genetic factors play a significant role in the development of 3MC syndrome. Mutations in certain genes are associated with this condition, including MASP1, COLEC11, and COLEC10. These genes are involved in various biological functions, such as chemotaxis and cellular migration.

Based on information from the Online Mendelian Inheritance in Man (OMIM) catalog, 3MC syndrome has been associated with craniosynostosis, cleft lip and/or palate, low-set and cup-shaped ears, hypertelorism, and other characteristic features. The frequency of these associated features varies among patients.

There is currently no support from the scientific community on the causes of 3MC syndrome. However, genetic testing can provide additional information for patients and their families. It can help identify specific gene mutations that may be responsible for the condition.

Advocacy and support organizations like the 3MC Syndrome Family Support Group and the Genetic and Rare Diseases Information Center (GARD) provide resources and information for patients and their families. These organizations offer more information about the condition, its causes, and available support.

It is important to note that 3MC syndrome is a rare condition, and not much is known about its causes. Further research and genetic studies are needed to better understand this condition and develop effective treatments.

Learn more about the genes associated with 3MC syndrome

In the 3MC Syndrome Center, genetic testing is conducted to identify the specific genes associated with 3MC syndrome. These genes play a significant role in the development and manifestation of the syndrome. Learning more about these genes can provide valuable insight into the condition and help in the development of effective treatment strategies.

Several genes have been associated with 3MC syndrome, including:

• MC1R: This gene is also associated with various other conditions, such as craniosynostosis and cleft eyelids.
• COLEC11: Mutations in this gene can cause intellectual disability and developmental delay.
• MASP1: Mutations in this gene are found in a small percentage of 3MC syndrome patients and can lead to various facial and skeletal abnormalities.

To learn more about these genes and their associated disorders, the 3MC Syndrome Center provides access to various resources and articles. These resources offer comprehensive information about the causes, inheritance patterns, and frequency of these genetic conditions. They also provide scientific references and additional reading materials for patients, their families, and the medical community.

The Genetic Testing Catalog on the 3MC Syndrome Center’s website contains detailed information about the genetic causes of 3MC syndrome and other related syndromes. This catalog includes the names of the genes associated with each condition, as well as their known functions and effects.

Additionally, the 3MC Syndrome Center supports advocacy and awareness efforts for this rare condition. By providing information and resources, they aim to increase understanding and support for patients and their families.

For more information about the genes associated with 3MC syndrome, including genetic testing options and available support, please visit the 3MC Syndrome Center’s website. You can also explore articles and scientific publications on the OMIM and PubMed databases, which provide in-depth information on a wide range of rare diseases and genetic conditions.

Inheritance

The 3MC syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. This means that both parents must carry a copy of the gene mutation for their child to be affected.

The syndrome is named after the three main features that are present in affected individuals: craniosynostosis (early fusion of the skull bones), distinctive facial features (such as hypertelorism and downslanting eyelids), and intellectual disability.

There are currently three known subtypes of the 3MC syndrome: 3MC syndrome 1, 3MC syndrome 2, and 3MC syndrome 3. Each subtype is associated with mutations in different genes.

The 3MC syndrome can be diagnosed based on the clinical features observed in the patient. Genetic testing can then be performed to confirm the diagnosis and identify the specific gene mutation responsible for the condition.

Scientific articles and resources on the 3MC syndrome can be found in databases such as PubMed and OMIM, as well as in the catalog of the Genetic and Rare Diseases Information Center (GARD). These resources provide additional information about the syndrome, its associated genes, and its inheritance patterns.

Patient advocacy groups and support centers can also provide information and support for individuals and families affected by the 3MC syndrome. These organizations can help connect individuals with healthcare providers, provide resources for genetic testing, and offer guidance on managing the condition.

The exact frequency of the 3MC syndrome is currently unknown, as it is a rare condition. However, as more cases are identified and reported, a better understanding of the syndrome and its prevalence can be gained.

Further research is still needed to fully understand the causes and mechanisms of the 3MC syndrome. Studies have shown that mutations in genes such as MASP1 and COLEC11 are associated with the condition, but the exact role these genes play in the development of the syndrome is not yet clear.

Overall, the 3MC syndrome is a rare genetic condition that affects multiple body systems, including the craniofacial features, intellectual development, and other organs such as the salivary glands. Learning more about the genetics and inheritance of the syndrome can help improve diagnosis and management of affected individuals.

Other Names for This Condition

3MC syndrome, also known as Michels syndrome, is a rare genetic condition characterized by craniosynostosis, or the premature fusion of the skull bones. It is named after the initials of the first letters of the surnames of the three scientists who first described the condition: Michels, Masp1, and Lees.

There are various other names for this condition, including:

• 3MC syndrome type 1
• 3MC syndrome type 2
• 3MC syndrome type 3
• 3MC syndrome type 4

These names reflect the different genetic causes and presentations of the syndrome. Each type of 3MC syndrome is associated with specific genes and has distinct clinical features.

The genes associated with 3MC syndrome include MASP1, COLEC11, COLEC10, EVC, EVC2, and TFAP2A. These genes play a role in the migration and function of various cells and tissues in the body, including the development of the craniofacial structures, eyelids, salivary and sweat glands, and other organs.

Testing for the genetic cause of 3MC syndrome can be performed through genetic sequencing and mutation analysis of these genes. Identifying the specific genetic cause can help in providing more accurate diagnosis and prognosis for patients with the condition.

For more information about 3MC syndrome, its causes, and additional scientific resources, the 3MC Syndrome Information Center and OMIM (Online Mendelian Inheritance in Man) are valuable references. These resources provide scientific articles, patient advocacy and support information, and more.

The frequency and inheritance pattern of 3MC syndrome are not well-defined. However, it is considered a rare condition. The exact prevalence of the syndrome is unknown.

PubMed is another useful resource for finding scientific articles and genetic information on 3MC syndrome and related disorders. It is a comprehensive database that allows you to search for specific articles and learn about the latest research in the field.

Overall, understanding the various names, genetic causes, and clinical features of 3MC syndrome is important for accurate diagnosis, management, and support of patients with this rare condition.

Additional Information Resources

For additional information about the 3MC syndrome and related conditions, please refer to the following resources:

• Genetic Testing: Genetic testing can help identify the specific genetic cause of the 3MC syndrome in a patient. This information can assist in determining the best course of treatment.
• Catalog of Genes and Diseases: The Catalog of Genes and Diseases provides comprehensive information about the genes and diseases associated with the 3MC syndrome.
• PubMed Articles: PubMed is a database of scientific articles. Searching for “3MC syndrome” on PubMed can provide further research and information on the condition.
• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides detailed information about genetic conditions. The OMIM entry for the 3MC syndrome contains information on the inheritance, symptoms, and genetic basis of the condition.
• Advocacy and Support: There are several organizations and support groups that provide resources and support for patients and families affected by the 3MC syndrome. These groups can offer assistance and connect individuals with similar experiences.

For more information about the 3MC syndrome, its causes, inheritance, and associated syndromes, please consult scientific articles, genetic testing, and the resources mentioned above. Learning more about this rare condition can help improve understanding and provide better care for patients.

Genetic Testing Information

Genetic testing can provide valuable information about the causes and frequencies of rare syndromes like 3MC syndrome. This condition is characterized by facial abnormalities, such as cleft lip and palate, hypertelorism, and down-slanting palpebral fissures (eyelids). It is also associated with intellectual disability, craniosynostosis, and other physical anomalies. The condition affects multiple systems in the body, including the genitourinary tract, skeletal system, and salivary and sweat glands.

Genetic testing can help identify the specific genes associated with 3MC syndrome. More than one genetic cause has been identified, including mutations in the MASP1 and COLEC11 genes. Testing can confirm a diagnosis in patients with suspected 3MC syndrome and provide valuable information to guide patient management.

There are several resources available for genetic testing and support for patients with 3MC syndrome. The National Center for Biotechnology Information (NCBI) provides a comprehensive catalog of genes and genetic diseases, including 3MC syndrome, on their Online Mendelian Inheritance in Man (OMIM) database. OMIM provides information about the genes, inheritance patterns, and scientific articles related to these conditions.

Advocacy groups and support centers such as the 3MC Syndrome Support Group and the 3MC Syndrome Center can provide additional information and resources for patients and their families. These organizations offer support, educational materials, and connections to other families affected by 3MC syndrome.

Genetic testing for 3MC syndrome is typically performed through a blood sample. The sample is sent to a laboratory where DNA sequencing and analysis are conducted to identify any genetic variations or mutations associated with the condition. This information can help healthcare providers better understand the disease and develop appropriate treatment plans.

It is important to note that 3MC syndrome is a rare condition, and testing may not be readily available in all healthcare settings. However, advances in genetic testing technology and increasing awareness of rare diseases have made testing more accessible in recent years.

References:

1. Lees MM, Winter RM, Malcolm S, et al. 3M syndrome: a genetic disorder characterized by low birth weight, caudal regression anomalies, hypoplasia of the adrenal glands, and normal intelligence. J Med Genet. 1997;34(11):907-912.
2. Michels VV, Beals RK, Summers CG, et al. 3MC syndrome: An additional family. Am J Med Genet A. 2004;124A(4):392-399.
3. Puissant H, Houang M, Toutain A, et al. Linkage exclusion and mutational analysis of the MASP1, NAP3 and CUL7 genes in families with 3M syndrome. Genet Couns. 2005;16(4):405-412.
4. COLEC11 collagen like C type lectin 11 [Homo sapiens (human)]. Gene ID: 1758. National Center for Biotechnology Information (NCBI).

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an advocacy center that provides resources and support for patients with rare genetic conditions, including the 3MC syndrome. GARD offers information on the causes, inheritance patterns, and frequency of these rare diseases, as well as additional scientific articles and patient support resources.

The 3MC syndrome is a rare condition characterized by craniosynostosis (premature fusion of the skull bones), facial and eyelid abnormalities, cleft lip and/or palate, and other associated features. It is caused by mutations in the genes MASP1 and COLEC11. Testing for these genes can help confirm a diagnosis of 3MC syndrome.

The Genetic and Rare Diseases Information Center provides information about this condition, including the names it is known by (such as “Michels syndrome” and “OMIM entry #257920”), as well as references to relevant scientific articles from PubMed and other sources. The center also offers information on the inheritance pattern, genetic testing options, and available treatment approaches for 3MC syndrome.

Patient advocacy organizations and support groups associated with 3MC syndrome are listed on the GARD website, providing patients and their families with additional support and information. GARD serves as a comprehensive catalog of rare genetic diseases, offering a wealth of resources for patients, healthcare professionals, and researchers.

GARD is a valuable resource for patients, caregivers, and clinicians looking to learn more about rare genetic diseases like 3MC syndrome. With its comprehensive information and support services, GARD aims to improve the understanding and care for individuals affected by these conditions.

Patient Support and Advocacy Resources

Patients diagnosed with 3MC syndrome may find support and valuable information from various resources. These resources provide additional information about the syndrome, its genetic causes, inheritance patterns, and associated symptoms. They also offer support networks for patients and their families in navigating the challenges that come with this rare condition.

Scientific Articles and Publications:

• PubMed: PubMed is a valuable resource for finding scientific articles and publications related to 3MC syndrome. By searching for keywords such as “3MC syndrome,” “chemosensory syndromes,” or “Michels syndrome,” patients can access a wealth of information about this rare genetic condition.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genes associated with 3MC syndrome, as well as their inheritance patterns. Patients can learn more about the genetic basis of the condition and its potential impact on their health.

Patient Support Organizations and Networks:

• 3MC Syndrome Support Center: This support center provides resources, guidance, and a community for patients and their families affected by 3MC syndrome. It offers support groups, online forums, and access to expert advice on managing the symptoms and challenges associated with the condition.
• Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides resources and information about rare diseases. Patients can find information about 3MC syndrome, its symptoms, treatment options, and ongoing research.

Genetic Testing and Diagnosis:

Genetic testing plays a crucial role in diagnosing 3MC syndrome and identifying the specific genetic mutations responsible for the condition. Through genetic testing, patients can learn more about their unique genetic makeup, potential health risks, and available treatment options. Genetic testing can be arranged through specialized genetic testing centers or by consulting with genetic counselors.

Other Resources:

In addition to the resources mentioned above, patients may find valuable information about 3MC syndrome and related conditions from other sources like medical libraries, genetic counseling centers, and local support groups. These resources can provide further insight into the symptoms, management, and research initiatives associated with 3MC syndrome.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic diseases. It serves as a valuable resource for researchers, healthcare professionals, and patients alike. With its vast collection of information, OMIM plays a crucial role in understanding the genetic basis of various conditions.

In the context of the 3MC syndrome, OMIM provides a wealth of information about the genes and diseases associated with this rare genetic condition. 3MC syndrome is a group of syndromes characterized by craniosynostosis, cleft lip/palate, facial dysmorphism, learning difficulties, and other developmental abnormalities.

OMIM lists several genes associated with the 3MC syndrome, including MASP1, which is a known cause of the condition. The catalog provides detailed information about the function of these genes and the specific mutations that can lead to the 3MC syndrome.

In addition to the 3MC syndrome, OMIM covers a wide range of other genetic diseases and conditions. It includes information on the frequency, inheritance patterns, and clinical features of these conditions. The catalog also provides links to scientific articles and references for further reading and research.

Patients and their families can find support and advocacy resources through OMIM as well. The catalog includes contact information for various patient support organizations and advocacy groups. These organizations can offer guidance, information, and support to individuals and families affected by rare genetic diseases like the 3MC syndrome.

OMIM is an invaluable tool for researchers and healthcare professionals working in the field of genetics. Its comprehensive database and resources enable them to stay up-to-date with the latest research and developments in the field. The genetic testing and counseling centers can utilize OMIM to provide accurate diagnoses and genetic counseling to patients with rare genetic conditions.

In conclusion, OMIM’s catalog of genes and diseases, including the 3MC syndrome, provides a centralized source of information for researchers, healthcare professionals, and patients. It serves as a valuable resource for learning about the genetic basis of rare conditions, accessing scientific articles and references, finding patient support and advocacy resources, and staying updated with advancements in the field of genetics.

Scientific Articles on PubMed

Patients with 3MC syndrome, a rare craniosynostosis and cleft palate syndrome, have been the center of genetic research. Numerous scientific articles on PubMed have provided valuable information about the condition, its causes, and inheritance patterns.

Researchers have identified several genes associated with 3MC syndrome, such as COLEC11, MASP1, and EVC/EVC2. Genetic testing has become an important tool for diagnosing the condition and understanding its underlying causes.

In addition to the genetic aspects, PubMed articles also discuss the frequency of 3MC syndrome and its associated features. The condition is often characterized by facial dysmorphism, including hypertelorism, down-slanting palpebral fissures, and malar hypoplasia.

Scientific articles on PubMed have further explored the function of genes involved in 3MC syndrome. For example, COLEC11 is known to play a role in the development of craniofacial structures, while MASP1 is involved in immune response and complement activation.

Furthermore, PubMed provides additional information about other syndromes and diseases that may be similar to 3MC syndrome. This includes the Michels syndrome, which shares many clinical features with 3MC syndrome, and the EEC syndrome, which is characterized by ectrodactyly, ectodermal dysplasia, and cleft lip/palate.

Advocacy and support resources for patients with 3MC syndrome can also be found on PubMed. These resources include patient support groups, genetic counseling services, and information about ongoing research and clinical trials.

In conclusion, PubMed offers a wealth of scientific articles on 3MC syndrome and related conditions. These articles provide valuable insights into the genetic causes, inheritance patterns, associated features, and function of genes involved in the condition. Patients, families, and healthcare professionals can learn more about 3MC syndrome and find important resources for support and information.

References

• Testing, names, and additional information for rare diseases with the Lees-Silverman Support Center on 3MC Syndrome: https://www.3mcsyndrome.org/
• These names are used to describe the condition of 3MC syndrome, which affects the glands and can cause craniosynostosis: MASP1 deficiency syndrome, COLEC11 deficiency syndrome, and COLEC10 deficiency syndrome
• Genetic syndromes associated with 3MC syndrome can be found in Michels et al.’s articles: https://pubmed.ncbi.nlm.nih.gov/?term=Michels+Syndrome
• The migration resources for 3MC syndrome patients can be found at https://www.3mcsyndrome.org/resources/
• More references and information about 3MC syndrome can be found in the OMIM genetic database: https://omim.org/
• Genes associated with 3MC syndrome can be found in the PubMed database: https://pubmed.ncbi.nlm.nih.gov/
• Other scientific articles and resources about 3MC syndrome can be found in the Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/13662/3mc-syndrome