3-M syndrome – Austra Health

3-M syndrome, also known as Three M syndrome, is a rare genetic condition that affects growth and development. The name “3-M” refers to the three main signs of the syndrome:

Short stature (including shortened arms and legs)
Prominent round face with a pointed chin
Mesomelic limb shortening (curvature of the limbs)

This genetic disorder was first described in 1974 and is thought to be inherited in an autosomal recessive manner. The syndrome has been associated with mutations in the CUL7, OBSL1, and CCDC8 genes among others. These genes are involved in the ubiquitin-proteasome pathway, which plays a critical role in protein degradation.

OMIM (Online Mendelian Inheritance in Man) and other scientific resources provide additional information and support for patients and their families. The OMIM database contains detailed information on the genetics, clinical features, and inheritance patterns of diseases, including 3-M syndrome. The Center for Genetic Testing (Cormier-Daire and Clayton) offers genetic testing for this condition.

More information about 3-M syndrome can be found in scientific articles published in journals such as the American Journal of Medical Genetics and the American Journal of Medical Genetics Part A. PubMed, a database of biomedical literature, also contains numerous articles on this topic.

Advocacy and support groups such as the 3-M Syndrome Support Group are available to provide information, resources, and a community for individuals and families affected by this rare condition. These groups often collaborate with medical professionals and researchers to learn more about the syndrome and improve patient outcomes.

“3-M syndrome is a rare condition with a narrow face, narrow shoulders, prominent round face, and a pointed chin.” – Yakut et al., 2010

In conclusion, 3-M syndrome is a rare genetic condition that affects growth and development. It is caused by mutations in several genes involved in the ubiquitin-proteasome pathway. OMIM and other scientific resources provide valuable information and support for affected individuals and their families. Genetic testing is available for a definitive diagnosis, and advocacy and support groups offer additional resources and community for those affected by this condition.

Frequency

3-M syndrome is a rare genetic condition. It is believed to have a frequency of approximately 1 in 100,000 to 1 in 200,000 individuals worldwide. This estimate is based on the limited number of reported cases in the scientific literature and in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

The full name of the condition is 3-M syndrome, which stands for “mid-trimester miscarriage, microcephaly (small head size), metaphyseal dysplasia (abnormal bone development),” the main features associated with this condition. However, there are some variations in the features observed in individuals with 3-M syndrome, and additional genes have been associated with the condition.

Currently, mutations in three genes are thought to be associated with 3-M syndrome: CUL7 (cullin-7), OBSL1 (obscurin-like 1), and CCDC8 (coiled-coil domain-containing protein 8). These genes play a role in a pathway known as the ubiquitin-proteasome system, which is involved in protein degradation within the body. Mutations in these genes are thought to disrupt this pathway, leading to the characteristic features of 3-M syndrome.

The inheritance pattern of 3-M syndrome is autosomal recessive, meaning that individuals with the condition have inherited two copies of the mutated gene, one from each parent. However, there is still much to learn about the genetics of 3-M syndrome, and additional genes may be identified in the future.

The exact frequency of 3-M syndrome in different populations and regions is not well documented. However, there have been reports of the condition in various populations, including a rare occurrence in the Yakut population of Eastern Siberia. This suggests that 3-M syndrome is not limited to specific ethnic groups or geographic regions.

More information on 3-M syndrome can be found from various resources, including advocacy organizations and scientific articles. Clinicians and researchers interested in this condition can refer to the OMIM catalog, PubMed, and other databases for additional information and references.

It is important to note that 3-M syndrome can often be misdiagnosed or overlooked due to its rarity and overlap with other genetic conditions. Therefore, genetic testing and clinical evaluation by healthcare professionals with expertise in dysmorphology (the study of abnormal physical features) is crucial for accurate diagnosis and appropriate management of individuals with suspected 3-M syndrome.

Causes

The causes of 3-M syndrome are often genetic, with mutations in certain genes thought to be responsible for the condition. According to research articles on Pubmed and OMIM, the genes associated with 3-M syndrome include CUL7 and OBSL1. These genes play a role in the ubiquitin-proteasome pathway, which is involved in protein degradation.

According to articles in the Journal of Medical Genetics by Cormier-Daire et al., mutations in the CUL7 gene are the most common cause of 3-M syndrome. The protein produced by the CUL7 gene is involved in the regulation of cell growth and division. When this protein is not functioning properly, it can lead to the characteristic features of 3-M syndrome, such as short stature, curvature of the spine, and facial dysmorphology.

Inheritance of 3-M syndrome is thought to be autosomal recessive, meaning that both parents must carry a mutation in the same gene in order for their child to develop the condition. However, in some cases, the condition can also occur sporadically, meaning that there is no family history of the syndrome.

For additional information about the genes associated with 3-M syndrome, the patient advocacy group the 3-M Syndrome Support and Advocacy Center provides resources and references to scientific articles on their website. This organization also offers support and information for families affected by 3-M syndrome.

Testing for mutations in the CUL7 and OBSL1 genes is available through certain genetic testing centers. The frequency of these mutations in the general population is not currently known. However, a study conducted in the Yakut population of Siberia found a higher frequency of CUL7 mutations in individuals with short stature and other related skeletal abnormalities.

Learn more about the genes associated with 3-M syndrome

3-M syndrome is a rare genetic disorder that causes short stature and other physical features. It is thought to be caused by mutations in certain genes that are involved in the body’s growth and development process. These genes include:

CUL7 (Cullin-7) gene: This gene provides instructions for making a protein that plays a role in the ubiquitin pathway, which is involved in the breakdown and removal of proteins in the body. Mutations in this gene can disrupt normal protein function and lead to the development of 3-M syndrome.
obscurin (OBSCN) gene: Mutations in this gene have been found in a small number of individuals with 3-M syndrome. The exact role of the OBSCN gene in causing the condition is not yet fully understood.
CLIP2 (CAP-GLY domain containing linker protein 2) gene: Mutations in this gene have been identified in some individuals with 3-M syndrome. The function of the CLIP2 gene in relation to the development of 3-M syndrome is still being studied.

It is important to note that not all individuals with 3-M syndrome have mutations in these genes. This suggests that there may be other genes and genetic factors involved in causing the condition. More research is needed to fully understand the genetic causes of 3-M syndrome.

If you are interested in learning more about the genes associated with 3-M syndrome, there are several resources available. The scientific literature is a good place to start, with articles available on websites such as PubMed. Additionally, organizations focused on rare diseases and genetic disorders, such as the National Organization for Rare Disorders (NORD) and the Genetic and Rare Diseases Information Center (GARD), offer valuable information and support for individuals with 3-M syndrome and their families.

For a more comprehensive overview of 3-M syndrome and its genetic causes, you can visit websites like OMIM (Online Mendelian Inheritance in Man) and the National Human Genome Research Institute (NHGRI) website. These resources provide detailed information on the condition, its inheritance pattern, associated genes, and the frequency of the condition in different populations.

Genetic testing can also be done to determine if an individual has the genetic mutations associated with 3-M syndrome. Testing may involve examining specific genes or conducting whole-exome sequencing to identify any genetic alterations that may be causing the condition. This can be done through specialized genetic testing centers or genetic clinics.

In conclusion, while the specific genes and genetic causes of 3-M syndrome are still being studied, research has identified several genes that are associated with the condition. These genes play a role in the body’s growth and development process. Learning more about these genes can help individuals with 3-M syndrome and their families better understand the condition and its potential causes.

Inheritance

3-M syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. This means that an individual must inherit two copies of an abnormal gene to develop the syndrome. The genes associated with 3-M syndrome are CUL7, OBSL1, and CCDC8, which are all involved in the ubiquitin-proteasome pathway.

Ubiquitin is a small protein that helps regulate the degradation of other proteins in the body. In individuals with 3-M syndrome, mutations in the CUL7 gene disrupt the normal function of the Cullin-7 protein, which is part of the ubiquitin ligase complex. This disruption leads to abnormal protein degradation and contributes to the development of the syndrome.

The inheritance of 3-M syndrome can be traced back to specific populations and regions around the world. For example, the Yakut population in Siberia has a higher frequency of the condition compared to other populations. In these populations, the syndrome is often referred to by different names, such as “Cormier-Daire syndrome” or “Hanson syndrome”.

Information about the inheritance and causes of 3-M syndrome can be found in scientific articles and databases such as PubMed and OMIM. These resources provide detailed information about the genes associated with the syndrome and the genetic mutations that can cause the condition.

In terms of clinical features, individuals with 3-M syndrome often have characteristic physical traits, such as short stature, facial dysmorphology, and curvature of the spine. However, the severity and specific features can vary among affected individuals.

Genetic testing can be done to confirm a diagnosis of 3-M syndrome. This testing involves analyzing the CUL7, OBSL1, and CCDC8 genes for mutations. Genetic counselors and dysmorphologists can provide additional information and support for patients and families affected by 3-M syndrome.

The 3-M Syndrome Support and Advocacy Group is a resource center for individuals with 3-M syndrome and their families. They provide information and resources about the syndrome, as well as support for affected individuals and their families.

In conclusion, 3-M syndrome is a rare genetic condition inherited in an autosomal recessive manner. Mutations in the CUL7, OBSL1, and CCDC8 genes disrupt the ubiquitin-proteasome pathway and contribute to the development of the syndrome. The inheritance and causes of 3-M syndrome can be learned through scientific articles and databases, and genetic testing can be done to confirm a diagnosis. The 3-M Syndrome Support and Advocacy Group provides additional resources and support for individuals and families affected by the syndrome.

Other Names for This Condition

3-M syndrome is a rare genetic condition that is also known by various other names:

3-M syndrome 1
3-M syndrome type 1
3-M syndrome type 2
Cullin 7 deficiency syndrome
Cullin 7 haploinsufficiency syndrome
Filippi syndrome
Gloomy syndrome
Narrow thorax, short stature, and prominent knees syndrome
Pseudo-Hurler polydystrophy syndrome
Richieri-Costa-Pereira syndrome

These names are used to describe the same condition, each emphasizing specific symptoms or genetic aspects of the syndrome.

The 3-M syndrome is named after the three main features that characterize the condition: short stature, characteristic facial features, and skeletal abnormalities.

It is important to note that the exact frequency of 3-M syndrome is unknown, but it is thought to be a very rare condition.

Additional information about 3-M syndrome can be found in various resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog, Rare Diseases and related disorders database (ORDR), and scientific articles from PubMed.

Families affected by this syndrome can find support and advocacy from organizations like the 3M Research Foundation and the 3-M Syndrome Patient Support Group. These organizations provide information, resources, and support for patients and families affected by 3-M syndrome.

Genetic testing can be done to identify the specific genes associated with 3-M syndrome. Currently, mutations in the CUL7 and OBSL1 genes are known to be associated with this condition, but other genes may also be involved.

For more detailed and scientific information about the causes, inheritance pattern, diagnosis, and management of 3-M syndrome, it is recommended to consult with a medical professional or genetic specialist.

References and additional information about 3-M syndrome can be found through sources such as OMIM, PubMed, the 3M Research Foundation, and medical literature.

Additional Information Resources

Here are some additional resources and references to learn more about 3-M syndrome:

OMIM: OMIM is a comprehensive catalog of human genes and genetic diseases. You can find information about 3-M syndrome on the OMIM website by searching for the condition or using the OMIM ID 273750.
PubMed: PubMed is a widely-used database of scientific articles. You can search PubMed for articles about 3-M syndrome and related topics using keywords like “3-M syndrome” or “3M syndrome”.
Genetic Testing: Genetic testing can be done to confirm a diagnosis of 3-M syndrome. A genetic counselor or healthcare provider can provide more information about genetic testing options.
Support groups and advocacy organizations: There may be support groups and advocacy organizations that provide resources, support, and information about 3-M syndrome. Examples include The 3-M Syndrome Support Center and The 3-M Syndrome Foundation.

For more detailed information, you can refer to the following articles:

Hanson D, Clayton P, et al. 3-M syndrome: a review. Clinical Dysmorphology. 2007;16(4):267-277.
Cormier-Daire V. (2012). 3M Syndrome. GeneReviews®. Adam MP, Ardinger HH, Pagon RA, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1545/
Yakut S, et al. A narrow and long face in 3-M syndrome type 1. American Journal of Medical Genetics Part A. 2013;161A(5):1084-1089.

These resources and articles can provide more information about the causes, inheritance pattern, associated genes, and clinical characteristics of 3-M syndrome. They can also support patients and their families in understanding and managing the condition.

Genetic Testing Information

Genetic testing is an important tool in diagnosing and understanding 3-M syndrome. This condition is caused by mutations in the CUL7, OBSL1, or CCDC8 genes, which play a role in the body’s ubiquitin-proteasome pathway.

Patients suspected of having 3-M syndrome can undergo genetic testing to confirm the presence of these mutations. The testing can be done through various methods, such as sequencing the genes or using next-generation sequencing techniques.

Genetic testing can provide valuable information about the specific mutations associated with 3-M syndrome in a particular patient. It can also help determine the inheritance pattern of the condition in the patient’s family.

Additional information about genetic testing for 3-M syndrome can be found on reputable websites like OMIM (Online Mendelian Inheritance in Man) and GeneReviews. These resources provide comprehensive information about the genes, mutations, and testing methods associated with the condition.

In addition to genetic testing, other resources can be useful for patients and their families. Dysmorphology databases, such as the London Medical Databases (DSD-LDDB), can provide detailed information about the physical features and clinical characteristics associated with 3-M syndrome.

PubMed is a valuable resource for scientific articles and publications related to 3-M syndrome. It can provide further insight into the condition, its genetic causes, and potential treatment options.

The 3-M Syndrome Family Support Group and Clinic (3-M Center) is another valuable resource for individuals and families affected by 3-M syndrome. They offer support, advocacy, and guidance for patients and their families.

In conclusion, genetic testing plays a crucial role in diagnosing and understanding 3-M syndrome. It provides important information about specific mutations, inheritance patterns, and associated clinical features. Patients and their families can benefit from accessing additional information and support through reputable resources like OMIM, PubMed, and the 3-M Center.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center, also known as GARD, is a valuable resource for individuals and families affected by rare genetic conditions such as 3-M syndrome. GARD provides comprehensive and up-to-date information on a wide range of genetic and rare diseases, offering support, education, and advocacy for patients, caregivers, and healthcare professionals.

When it comes to 3-M syndrome, GARD is a trusted source of information. The center provides a detailed overview of the condition, including its causes, frequency, signs and symptoms, inheritance pattern, and available testing options. GARD offers scientific articles, patient support resources, and information on clinical trials and research studies.

One of the main causes of 3-M syndrome is mutations in the CUL7 gene. The CUL7 gene provides instructions for making a protein that is involved in the ubiquitin-proteasome pathway, which regulates the destruction of proteins in the body. Mutations in this gene can disrupt normal protein degradation, leading to the characteristic features of 3-M syndrome.

The GARD website also provides information on other genes that have been associated with 3-M syndrome, such as OBSL1 and CCDC8. These genes are thought to play a role in skeletal and facial development, and their mutations can contribute to the characteristic body and facial dysmorphology seen in individuals with 3-M syndrome.

Patient Support and Advocacy Resources

When dealing with a rare condition like 3-M syndrome, patients and their families often need additional support and resources to navigate the challenges they face. Here are some patient support and advocacy resources that can provide information and assistance:

3-M Syndrome Family Support Center – A full-service center that offers support, resources, and information specifically for individuals and families affected by 3-M syndrome.
OMIM – A comprehensive database that provides detailed information on the causes, inheritance patterns, and other genetic aspects of various diseases, including 3-M syndrome.
Dysmorphol – An online resource for clinicians and researchers working in the field of dysmorphology. It offers a vast collection of articles and information about rare genetic disorders like 3-M syndrome.
PubMed – A scientific database that provides access to a wide range of research articles and publications on various medical conditions, including 3-M syndrome.
ClinGen – A platform that promotes expert curation of genes and variants associated with rare diseases. It provides valuable information on genes related to 3-M syndrome.
Gene Testing – Genetic testing can help confirm a diagnosis of 3-M syndrome and identify specific mutations in the Cullin-7 gene, which is responsible for this condition. Patients can consult with their healthcare provider to learn more about the available genetic testing options.

In addition to these resources, patient support groups, such as the Hanson Family 3-M Syndrome Group and the Cormier-Daire Foundation, can provide invaluable support and information to individuals and families affected by 3-M syndrome. They organize events, provide educational materials, and connect patients with others who share similar experiences.

It’s important to remember that although 3-M syndrome is a rare condition, there are resources available to support individuals and families affected by this syndrome. By accessing these support and advocacy resources, patients can learn more about their condition, connect with others who have similar experiences, and find the support they need to navigate the challenges of living with 3-M syndrome.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog is a comprehensive resource that provides information on various genetic diseases and the associated genes. One such rare condition listed in the OMIM catalog is the 3-M syndrome.

The 3-M syndrome is a genetic disorder characterized by short stature, distinctive facial features, and skeletal abnormalities. It is named after the initials of the first three families in which it was described: Miller, McKusick, and Malvaux. Patients with 3-M syndrome often have a distinctive appearance, with a small face, a pointed chin, a high and narrow palate, and a small mouth. They also have short limbs and a curvature of the spine.

The syndrome is thought to be associated with mutations in the CUL7 gene, which encodes a protein involved in the ubiquitin pathway. The CUL7 protein is part of a complex called Cullin-7, which plays a role in the regulation of protein degradation. Mutations in the CUL7 gene disrupt the function of the Cullin-7 complex, leading to the development of the 3-M syndrome.

Testing for mutations in the CUL7 gene can be performed to confirm a diagnosis of 3-M syndrome. Genetic testing and counseling can provide valuable information to patients and their families, including the frequency of inheritance and the associated clinical features.

Patients with 3-M syndrome may benefit from resources and advocacy groups that provide support and additional information. The OMIM catalog is a reliable source of information, providing full scientific names, clinical summaries, and references to relevant articles from PubMed.

In addition to the 3-M syndrome, the OMIM catalog contains information on many other rare diseases and associated genes. Users can search for specific diseases or genes, making it a valuable tool for researchers, clinicians, and patients alike.

Key Points:

The 3-M syndrome is a rare genetic condition characterized by short stature, distinctive facial features, and skeletal abnormalities.
Mutations in the CUL7 gene are thought to be the cause of the 3-M syndrome.
The OMIM catalog provides comprehensive information on various genetic diseases and associated genes, including the 3-M syndrome.
Testing for mutations in the CUL7 gene can confirm a diagnosis of 3-M syndrome.
The OMIM catalog is a valuable resource for learning more about the genetic causes of diseases and accessing relevant scientific literature.

Scientific Articles on PubMed

When researching the 3-M syndrome, it is essential to consult scientific articles and publications available on PubMed. PubMed is a trusted online resource that provides access to a vast collection of biomedical literature. It supports researchers, clinicians, and other healthcare professionals in finding valuable information about rare genetic conditions like 3-M syndrome.

One important study on 3-M syndrome was conducted by Clayton et al. The researchers identified additional genes and mutations associated with the syndrome, shedding light on its genetic causes. Their findings were published in the scientific journal Clinical Genetics.

Another study by Ubiquitin Clin focused on the role of the ubiquitin pathway in 3-M syndrome. The researchers explored the connection between mutations in the CUL7 gene and the development of the condition. This study provided valuable insights into the molecular mechanisms underlying 3-M syndrome.

Furthermore, the catalog of human genetic diseases, OMIM, provides comprehensive information about 3-M syndrome. This resource includes curated articles, patient descriptions, and genetic testing information related to the condition. It is a valuable tool for both researchers and clinicians.

It is also worth mentioning the advocacy efforts and support groups for individuals and families affected by 3-M syndrome. Organizations like 3-M Syndrome International Support Center and Clay14 Support provide resources, information, and support for those dealing with this rare condition.

In terms of clinical features, individuals with 3-M syndrome often exhibit characteristic facial dysmorphology, such as a triangular face and a narrow head. They may also have abnormal limb proportions and a curvature of the spine. These physical traits aid in the diagnosis and identification of individuals with 3-M syndrome.

For a more comprehensive understanding of the syndrome, it is recommended to consult the references available on PubMed. By exploring these scientific articles, researchers and clinicians can learn more about the genes associated with 3-M syndrome, its frequency in different populations (such as the Yakut population), and the inheritance patterns of the condition.

Some key researchers and experts in the field of 3-M syndrome include Clayton-Smith J, Hanson D, and Cormier-Daire V. Their extensive work and research publications have contributed significantly to our knowledge and understanding of this rare genetic condition.

In conclusion, PubMed offers a wealth of scientific articles on 3-M syndrome, providing essential information about its causes, clinical features, genetic factors, and more. Researchers and clinicians can rely on these resources to stay up-to-date with the latest advancements in the field and improve patient care.

References

Other Resources

OMIM – Learn more about 3-M syndrome and its narrow inheritance patterns
Dysmorphol – Their catalog contains information about other rare diseases associated with dysmorphology
National Organization for Rare Disorders (NORD) – Advocacy center for rare diseases, including 3-M syndrome

Scientific Articles

Hanson et al. 2015 – A scientific study providing an overview of 3-M syndrome, including its causes and clinical features
Clayton-Smith and Hanson 2002 – A review article discussing the clinical features and genetic causes of 3-M syndrome
Cormier-Daire 2019 – A comprehensive review of the genetic basis, clinical features, and management of 3-M syndrome

Genetic Information

GeneTests – CUL7 Gene – Information about the CUL7 gene and its association with 3-M syndrome
PubMed – More research articles about 3-M syndrome and related genetic mutations
ClinVar – Database with information on genetic variants associated with 3-M syndrome