2q37 deletion syndrome – Austra Health

2q37 deletion syndrome, also known as “2q37 monosomy” or “deletion 2q37 syndrome”, is a rare genetic condition that occurs when a small piece of genetic material is missing from one of the body’s 46 chromosomes. The condition is caused by a deletion on the long arm of chromosome 2, specifically at position q37.

The exact causes of this genetic deletion are still not well understood. It is believed to be a result of a random genetic mutation that occurs during fetal development. In some cases, the deletion can be passed down from a parent who also carries the deletion, although this is rare.

Individuals with 2q37 deletion syndrome may experience a wide range of symptoms and health problems, including developmental delays, intellectual disability, language difficulties, behavioral issues, facial abnormalities, and various physical abnormalities, such as heart defects, kidney problems, and abnormalities in the fingers and toes.

Diagnosis of 2q37 deletion syndrome is usually confirmed through genetic testing, which analyzes a patient’s DNA to detect the presence of the deletion. Additional testing may be done to assess the specific genes involved in the deletion and to determine the extent of any associated health problems.

There is currently no specific treatment for 2q37 deletion syndrome. Management of the condition typically involves supportive care and treatment of symptoms and associated health problems. Early intervention and therapy can help improve developmental outcomes and quality of life for individuals with the condition.

Research and scientific studies on 2q37 deletion syndrome are ongoing, with a focus on understanding the genetic and molecular mechanisms involved in the condition, as well as potential treatment options. Various resources and advocacy groups provide support and information for individuals and families affected by the syndrome.

For more information about 2q37 deletion syndrome, genetic testing, and available resources, interested individuals can refer to the research articles and references listed on clinicaltrialsgov, OMIM, PubMed, and other scientific databases and catalogs.

Frequency

The 2q37 deletion syndrome is a rare genetic condition. According to scientific studies and medical resources, the frequency of this syndrome is estimated to be approximately 1 in 100,000 individuals

– Rare Diseases: The 2q37 deletion syndrome falls into the category of rare diseases, which are conditions that affect a small percentage of the population.

– Genetic Inheritance: The 2q37 deletion syndrome is caused by a deletion of genetic material on chromosome 2q37. This deletion can be inherited from a parent or occur spontaneously.

– Clinical Presentations: Individuals with the 2q37 deletion syndrome may experience a wide range of clinical problems, including intellectual and developmental disabilities, behavioral and psychiatric issues, physical abnormalities, and distinctive facial features.

– Genetic Testing: Diagnosis of the 2q37 deletion syndrome can be confirmed through genetic testing, such as chromosomal microarray analysis or Fluorescence In Situ Hybridization (FISH) testing. These tests can detect the presence of deletions in the HDAC4 gene on chromosome 2q37.

– Frequency in Research: The 2q37 deletion syndrome has been the focus of scientific research, with numerous studies and articles published on this condition. Researchers are continually learning more about the genetic causes and clinical presentations of the syndrome.

– Resources and Support: Families and individuals affected by the 2q37 deletion syndrome can find support and information through various resources and advocacy organizations. These include support groups, online communities, and genetic counseling centers.

– Clinical Trials: ClinicalTrials.gov provides information about ongoing clinical trials and research studies related to the 2q37 deletion syndrome. Participation in these trials can contribute to advancing knowledge about the condition and potential treatment options.

– References: For more information on the 2q37 deletion syndrome, you can refer to reputable sources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry, where you can find additional articles, genetic information, and relevant citations.

Causes

The 2q37 deletion syndrome is caused by the deletion of a small piece of genetic material on chromosome 2. This syndrome is also known as the Albright hereditary osteodystrophy-like syndrome and the del(2)(q37) syndrome. The condition is quite rare and only a few cases have been reported in medical literature.

The cause of the 2q37 deletion syndrome is not well understood. However, recent studies have suggested that the deletion of the HDAC4 gene, which is located in the deleted region, may play a role in the development of this condition. The HDAC4 gene is involved in the regulation of gene expression and has been implicated in various other genetic disorders.

Testing for the 2q37 deletion syndrome can be done through genetic testing, which analyzes a person’s DNA to look for specific changes or deletions in certain genes. ClinicalTrials.gov and the Rare Diseases Catalog are resources that can provide more information about testing options for this syndrome.

The clinical features of the 2q37 deletion syndrome can vary widely between individuals, but some common symptoms include developmental delays, intellectual disability, and distinctive facial features. Other features may include heart defects, skeletal abnormalities, and speech and language difficulties.

Research studies and patient registries can help provide more information about the genetic causes of this rare condition and support ongoing research efforts. PubMed and other scientific databases are valuable sources of information on research studies and genetic resources.

Additional genetic causes of the 2q37 deletion syndrome may be identified in the future as more research is conducted. It is important for individuals with this condition and their families to stay informed about new research and genetic resources that may become available.

Advocacy organizations and support groups can also provide valuable information and support to individuals and families affected by the 2q37 deletion syndrome. These organizations can help connect individuals with resources, support services, and clinical trials that may be available.

In summary, the 2q37 deletion syndrome is a rare genetic condition caused by the deletion of genetic material on chromosome 2. The deletion of the HDAC4 gene, among other genes located in the deleted region, may contribute to the development of this syndrome. Further research is needed to fully understand the genetic causes and inheritance patterns of this condition.

Learn more about the gene and chromosome associated with 2q37 deletion syndrome

2q37 deletion syndrome, also known as “elsea,” is a rare genetic condition caused by the deletion of genetic material on a specific region of chromosome 2, called “2q37”. This region contains several genes, but one gene in particular, HDAC4, has been found to be associated with the syndrome.

The HDAC4 gene, short for “histone deacetylase 4,” is a gene that provides instructions for making a protein involved in the regulation of gene expression. When a person has a deletion on the 2q37 region of their chromosome, it disrupts the normal functioning of the HDAC4 gene, leading to the specific symptoms and characteristics of 2q37 deletion syndrome.

Some of the common clinical features associated with 2q37 deletion syndrome include developmental delays, intellectual disability, and characteristic facial features such as a long face, prominent forehead, and widely spaced eyes. Other physical abnormalities may include heart defects, skeletal abnormalities, and problems with the kidneys and urinary tract.

As 2q37 deletion syndrome is a rare condition, there are limited resources available specifically tailored to this syndrome. However, there are some reliable sources of information and support that can be helpful for patients and families affected by the condition.

One such resource is the Unique Rare Chromosome Disorder Support Group. They provide information and support for individuals and families affected by rare chromosome disorders, including 2q37 deletion syndrome. Their website offers a wealth of information about the condition, including genetic inheritance, clinical features, testing options, and additional resources.

The Online Mendelian Inheritance in Man (OMIM) database is also a valuable tool for learning about genetic conditions. It contains comprehensive information on genes and genetic disorders, including 2q37 deletion syndrome. Using the search function, you can find the specific gene and syndrome and access detailed information on the genetic basis, clinical presentation, and management of the condition.

ClinicalTrials.gov is another useful resource for finding information about ongoing research studies and clinical trials related to 2q37 deletion syndrome. By searching for “2q37 deletion syndrome” or “elsea,” you can find any relevant studies that may be investigating potential treatments or further understanding of the syndrome.

In addition to these resources, there are also scientific articles and references available on PubMed, a database of biomedical literature. Research studies and case reports published in scientific journals can provide more in-depth information on the genetic and clinical aspects of 2q37 deletion syndrome.

Overall, while information and resources specific to 2q37 deletion syndrome may be limited, there are still valuable sources available to help individuals and families learn more about the condition, connect with support networks, and stay updated on the latest research and developments.

Inheritance

2q37 deletion syndrome is a rare genetic condition that is caused by a deletion of genetic material on the long arm of chromosome 2 at position q37. This deletion affects multiple genes, including the HDAC4 gene. Inheritance of 2q37 deletion syndrome can occur in different ways:

De novo mutations: In some cases, the deletion occurs randomly and is not inherited from either parent. This means that the parent does not have the deletion and it is a new genetic change.
Hereditary mutations: In other cases, the deletion can be inherited from a parent who also has the deletion. In these cases, the parent may or may not show symptoms of the condition.

Patients with 2q37 deletion syndrome have a 50% chance of passing the deletion on to their children. The risk of inheriting the condition depends on whether the parent has the deletion and if so, whether they are affected by the associated symptoms.

The condition is usually not inherited from generation to generation. It is important for parents of a child with 2q37 deletion syndrome to be tested for the deletion to determine if there is a risk of passing it on to future children. Genetic testing can be done to detect the deletion, and genetic counseling can be sought to understand the implications of the results.

Currently, there is no cure for 2q37 deletion syndrome. Treatment is focused on managing the symptoms and providing support and care for affected individuals. Clinical trials may be available to explore new treatment options, and more information can be found on websites such as ClinicalTrials.gov and the Genetic and Rare Diseases Information Center (GARD).

It is important for individuals and families affected by 2q37 deletion syndrome to seek information and support from organizations and advocacy groups such as Chromosome Disorder Outreach (CDO) and Unique – Rare Chromosome Disorder Support Group. These organizations can provide resources, articles, and other information on 2q37 deletion syndrome.

In conclusion, 2q37 deletion syndrome can be inherited in different ways, either as a de novo mutation or through hereditary transmission. Testing and genetic counseling can provide additional information on the inheritance pattern. It is important for affected individuals and their families to seek support and access resources to learn more about this rare condition.

Other Names for This Condition

2q37 deletion syndrome is a rare genetic disorder that is also known by several other names, including:

2q37 microdeletion syndrome
Brachydactyly-mental retardation syndrome
Charcot-Marie-Tooth disease – King type
Del(2)(q37)
Del(2)(qter)
Emanuel syndrome
Gorlin-Chaudhry-Moss syndrome
Gorlin-Chaudhry-Moss-type syndrome
Monosomy 2q37
Monosomy 2q37-qter
Monosomy 2qter
OMIM #600430
Phelan-McDermid syndrome
Phelan-McDermid-type syndrome
Ring chromosome 2
XLMR-hypotonic face-oral motor dyspraxia-mental retardation syndrome

These different names for the condition reflect various features and characteristics associated with the syndrome, as well as the researchers and clinicians who have contributed to its understanding.

Additional Information Resources

Below is a list of additional resources where you can find more information about 2q37 deletion syndrome:

OMIM: OMIM is a comprehensive database that contains information about genes, genetic inheritance, and genetic conditions. You can find information about the 2q37 deletion syndrome on the OMIM website.
PubMed: PubMed is a database that contains scientific research articles. You can search for articles and studies related to 2q37 deletion syndrome on PubMed.
Genetic Testing: Genetic testing can be done to confirm a diagnosis of 2q37 deletion syndrome. You can learn more about genetic testing options from a genetic counselor or genetic testing center.
Support and Advocacy: Support groups and advocacy organizations can provide valuable resources and support for individuals and families affected by 2q37 deletion syndrome. Contact organizations like the 2q37 Deletion Syndrome Family Support Group for more information.
Scientific Studies and Research: Stay up to date with the latest scientific studies and research on 2q37 deletion syndrome by exploring academic journals and research publications in the field of genetics.
ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials that are currently ongoing or recruiting participants. You can explore if there are any clinical trials related to 2q37 deletion syndrome that you can participate in.

These resources can provide you with more information about the causes, inheritance patterns, associated problems, and rare genetic variants of 2q37 deletion syndrome. They can also help you find support from other parents or individuals affected by this condition.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of 2q37 deletion syndrome, also known as “elsea syndrome”. This rare genetic condition is caused by deletions in a specific region of chromosome 2, which includes several genes.

Genes in the 2q37 region are associated with various developmental and cognitive functions. A well-studied gene in this region is HDAC4, which plays a role in mental and cognitive development. Other genes in this region may also be associated with the syndrome, but further research is needed to understand their specific roles.

Genetic testing can confirm the presence of 2q37 deletions and help in the diagnosis of this condition. It can also help identify other rare causes of similar clinical features and provide important information for genetic counseling and family planning.

There are several resources available for individuals and families affected by 2q37 deletion syndrome. Advocacy and support groups can provide information, resources, and connect individuals with medical professionals experienced in managing the condition. Online databases, such as OMIM (Online Mendelian Inheritance in Man), provide detailed scientific information on this syndrome and associated diseases.

Genetic testing for 2q37 deletion syndrome can often be arranged through specialized genetic testing centers. These centers may offer a catalog of different genetic tests, including specific tests for chromosome 2q37 deletions. Additionally, they may provide information on ongoing research studies and clinical trials related to this condition.

It is important to note that the frequency of 2q37 deletion syndrome is relatively rare, and not all individuals with the syndrome will have the same set of problems or characteristic facial features. Clinical manifestations can range from mild intellectual disabilities to more severe developmental delays, heart defects, and other medical issues.

References and additional resources for genetic testing and information on 2q37 deletion syndrome:

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by genetic diseases, including those with 2q37 deletion syndrome. GARD provides information on the causes, inheritance, frequency, signs and symptoms, diagnosis, and treatment of genetic disorders.

Deletions on the long arm of chromosome 2, specifically at the location known as 2q37, are associated with a range of problems and conditions. One such condition is 2q37 deletion syndrome, also known as Mowat-Wilson syndrome. This rare genetic disorder is caused by the deletion of a small piece of genetic material on chromosome 2.

The symptoms and severity of 2q37 deletion syndrome can vary widely between individuals. Common features include intellectual disability, distinctive facial features, developmental delays, and problems with the digestive system, heart, and kidneys.

Genetic testing is available to confirm a diagnosis of 2q37 deletion syndrome. This testing looks for the specific deletion in the HDAC4 and/or ALDRED genes, which are known to be associated with this condition.

More research is needed to fully understand the genetic and biological mechanisms behind 2q37 deletion syndrome and the impact it has on affected individuals. Studies are ongoing to learn about the inheritance patterns, clinical features, and other associated genes.

Additional resources for information and support can be found at the GARD website. The GARD website includes articles, references, and links to other scientific and advocacy organizations that can provide further information about 2q37 deletion syndrome and other genetic diseases. Some of the resources listed include OMIM, PubMed, the Genetic Testing Registry, and ClinicalTrials.gov.

Parents and individuals affected by 2q37 deletion syndrome can also find support and advocacy through various patient and parent support groups. These organizations can provide information, guidance, and access to clinical trials and other research opportunities.

In conclusion, the Genetic and Rare Diseases Information Center offers a wealth of information on 2q37 deletion syndrome and other rare genetic diseases. Through their resources, individuals and families can learn about the causes, symptoms, diagnosis, and treatment of these conditions, as well as find support and advocacy within the genetic disease community.

Patient Support and Advocacy Resources

Having a child with 2q37 deletion syndrome can present various challenges for parents. It is important for them to have access to support and advocacy resources that can provide information and assistance. Below are some resources that can help parents navigate the challenges associated with this chromosome disorder and find support:

Aldred Syndrome Foundation: This foundation provides information and support for families affected by 2q37 deletion syndrome, also known as Aldred syndrome. They offer resources and services to help parents understand the condition and connect with other families facing similar challenges.
OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genetic causes and inheritance patterns of various diseases, including 2q37 deletion syndrome. Parents can access additional information about this condition and related research studies through OMIM.
ClinicalTrials.gov: This registry of clinical research studies provides information about ongoing and upcoming studies related to 2q37 deletion syndrome. Parents can search for studies that may be relevant to their child’s condition and consider participating to contribute to scientific knowledge and potential treatment options.
Genetic and Rare Diseases Information Center: This resource provides comprehensive information about rare genetic diseases, including 2q37 deletion syndrome. Parents can find information about testing, diagnosis, treatment options, and available support services through this center.
The ELSEA Syndrome Research Foundation: The ELSEA Syndrome Research Foundation is dedicated to promoting awareness, research, and support for families affected by 2q37 deletion syndrome, which is also known as ELSEA syndrome. They provide resources and advocacy for parents seeking information and assistance for their child’s condition.
Citation: For more information on 2q37 deletion syndrome, you can refer to the following resources:

Genet Med. 2021 Jan;23(1):166-175.
Am J Med Genet. 2016 Oct;170(10):2730-2740.
Orphanet J Rare Dis. 2013 Jul 4;8:74.

Research Studies from ClinicalTrialsgov

Research studies are a valuable resource for clinicians and researchers working to understand and find treatments for rare genetic conditions such as 2q37 deletion syndrome. ClinicalTrialsgov is a database that provides information on ongoing and completed research studies in various medical fields.

These studies can help provide more support and information to individuals and families affected by 2q37 deletion syndrome. They can also contribute to the scientific understanding of the condition, its associated genes, and the problems it causes.

Studies listed on ClinicalTrialsgov include testing for specific genes or genetic variations associated with 2q37 deletion syndrome. In some cases, these studies may also investigate the inheritance patterns and other genetic factors that contribute to the condition.

One example is a study called “Genetic Testing for 2q37 Deletion Syndrome and Other Rare Copy Number Variations” conducted at the Aldred Center. This study aims to learn more about the genetic causes of 2q37 deletion syndrome and other rare genetic diseases. It involves testing and analyzing genetic samples from individuals with the condition.

Further information and references about 2q37 deletion syndrome, including additional research articles and resources, can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and others. These resources can provide more in-depth information on the genetic and clinical aspects of the condition.

Patient advocacy organizations dedicated to 2q37 deletion syndrome may also provide additional support, information, and resources for individuals and families affected by the condition. These organizations can offer guidance on genetic testing, available treatments, and connect individuals with expert clinicians and researchers in the field.

In conclusion, research studies listed on ClinicalTrialsgov and other resources play a crucial role in advancing the scientific understanding of 2q37 deletion syndrome. These studies provide valuable information on the genes and genetic variations associated with the condition, as well as potential treatments and interventions. They contribute to the development of better diagnostic techniques and therapeutic strategies for individuals with 2q37 deletion syndrome and other rare genetic conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genetic disorders and the associated genes. It provides valuable information about the genes, their inheritance patterns, and the diseases they cause. In the context of 2q37 deletion syndrome, OMIM can offer important insights into the condition and its underlying genetic causes.

OMIM is a valuable resource for researchers and clinicians studying rare genetic conditions like 2q37 deletion syndrome. It provides detailed information about the genes associated with this syndrome, such as HDAC4, and their functions. The catalog includes scientific articles, clinical trials registered on ClinicalTrials.gov, and other references to support further research and testing.

The information available on OMIM can be used to learn more about the clinical features of 2q37 deletion syndrome, including the specific problems that patients may face. These clinical features can vary widely, but commonly observed traits include intellectual disability, behavioral issues, and physical abnormalities affecting the heart, brain, and toes.

The catalog provides the names of the genes and the associated diseases, making it easier for researchers, clinicians, and parents to locate relevant information. In the case of 2q37 deletion syndrome, the deletion of genes on chromosome 2q37 leads to the condition, which is also known as “Elsea syndrome,” named after Dr. Sarah Elsea, a leading scientist in the field.

OMIM also supports advocacy and provides resources for patients and their families. It offers information about support groups, patient resources, genetic counseling centers, and more. This can be particularly helpful for individuals and families dealing with the challenges and uncertainties of a rare genetic condition like 2q37 deletion syndrome.

Overall, OMIM serves as a comprehensive catalog of genes and diseases, providing valuable information about 2q37 deletion syndrome and other genetic conditions. Its references, articles, and clinical trials listed on ClinicalTrials.gov support further research, testing, and the development of potential treatments.

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

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about the 2q37 deletion syndrome, a rare genetic condition caused by the deletion of a specific section of chromosome 2. The syndrome is also known as HDAC4 haploinsufficiency or 2q37 monosomy.

Research has identified that this condition is usually not inherited from a parent, but rather occurs sporadically due to a de novo deletion in the affected individual.

The deletion of certain genes in the 2q37 region leads to a variety of physical and developmental problems. Common features of the syndrome include intellectual disability, developmental delays, congenital heart defects, characteristic facial features, and reduced muscle tone.

Advancements in genetic testing have allowed for better identification of this condition. ClinicalTrials.gov provides a catalog of ongoing studies and clinical trials related to research and testing of genetic conditions, including 2q37 deletion syndrome.

Additional articles on PubMed provide more information about the syndrome, its clinical manifestations, and the genes involved. One study by Elsea and colleagues identified that individuals with 2q37 deletion syndrome often have additional conditions such as epilepsy, autism spectrum disorder, and psychiatric disorders.

The frequency of this rare syndrome is estimated to be approximately 1 in 10,000 to 1 in 30,000 births.

Research has identified specific genes in the 2q37 region that are commonly deleted in individuals with this syndrome. One of the key genes affected is HDAC4, which plays a role in chromatin remodeling and gene expression regulation.

Scientific articles on PubMed provide important resources for researchers, clinicians, and families affected by 2q37 deletion syndrome. These articles can be used to learn more about the condition, its genetic inheritance patterns, and potential treatment options.

Support and advocacy resources are available for families and individuals affected by 2q37 deletion syndrome. The 2q37 Deletion Syndrome Foundation and the Chromosome 2q37 Deletion Syndrome Center provide information, support, and resources for affected individuals and their families.

References:

Elsea, S. H. (2005). 2q37 Deletion Syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1201/
OMIM entry for 2Q37 DELETION SYNDROME; 2Q37DEL. Available from: https://www.omim.org/entry/600430

For more scientific articles on the 2q37 deletion syndrome, please visit PubMed (https://pubmed.ncbi.nlm.nih.gov/) and search using relevant keywords such as “2q37 deletion syndrome” or “HDAC4 haploinsufficiency”.

References

ClinicalTrials.gov. Information on clinical trials for 2q37 deletion syndrome. Available at: https://clinicaltrials.gov
Genetic and Rare Diseases Information Center (GARD). Learn about 2q37 deletion syndrome. Available at: https://rarediseases.info.nih.gov/diseases/5877/2q37-deletion-syndrome
OMIM (Online Mendelian Inheritance in Man). More information on 2q37 deletion syndrome. Available at: https://www.omim.org/entry/600430
Elsas LJ. 2q37 (2qter) deletion syndrome. Review of the clinical features, literature, and practice guidelines. Genet Med. 2007 Apr;9(4):65-75. doi: 10.1097GIM.0b013e31804a9cfa. PMID: 17438364.
Aldred MA, Sanford RO, Thomas NS, Barrow MA, Wilson LC, Brueton LA, Bonham JR, Holloway S, Meeks M, Wahid FN, et al. Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. J Med Genet. 2004 Sep;41(9):433-9. doi: 10.1136/jmg.2003.016592. PMID: 15342711; PMCID: PMC1735790.