Koolen-de Vries syndrome, also known as 17q21.31 microdeletion syndrome, is a rare genetic condition that was first described in 2006 by J.M. Koolen, et al. It is characterized by developmental delay, intellectual disability, congenital anomalies, and dysmorphic features.

Patients with Koolen-de Vries syndrome can have a range of clinical symptoms and severity. However, because it is a rare disease, it can be challenging to learn about this syndrome. Scientific articles and clinical studies provide valuable information about the mutation, inheritance, and causes of Koolen-de Vries syndrome.

Advocacy organizations and resources such as the Koolen-De Vries Syndrome Foundation and the National Center for Advancing Translational Sciences (NCATS) provide support, testing facilities, and clinical trial information for people with Koolen-de Vries syndrome and their families.

Genetic testing is available to identify the mutation that causes Koolen-de Vries syndrome. Studies have shown that the syndrome is associated with deletions or duplications of a specific region on chromosome 17q21.31, which affects the function of multiple genes, including KANSL1.

While more research is needed to fully understand the syndrome, scientific articles and studies have provided important insights into the genetic basis and clinical characteristics of Koolen-de Vries syndrome. Additional information and resources can be found in the references and citations of these articles.

Frequency

Koolen-de Vries syndrome is a rare genetic condition that is caused by a missing piece of genetic material on chromosome 17. This syndrome was first described in 2006 by David Koolen and Bert de Vries, and since then, more information about the condition has been gathered through scientific studies and testing.

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The exact frequency of Koolen-de Vries syndrome is currently unknown, but it is considered to be a rare condition. The Koolen-de Vries Syndrome Outreach Center, a patient advocacy and support center, estimates that there are only about 500 known cases of this syndrome worldwide. However, it is possible that many cases go undiagnosed or unreported, so the actual number of affected individuals may be higher.

Studies have shown that Koolen-de Vries syndrome is caused by a mutation in the KANSL1 gene on chromosome 17. This gene is involved in the regulation of other genes and plays a role in the development and function of various organs and systems in the body. Mutations in the KANSL1 gene disrupt the normal functions of these genes, leading to the characteristic features and symptoms of Koolen-de Vries syndrome.

The inheritance pattern of Koolen-de Vries syndrome is currently unclear. Some cases appear to be inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to their children. However, other cases of the syndrome seem to occur sporadically, without a family history of the condition.

Additional information and support for individuals and families affected by Koolen-de Vries syndrome can be found through the Koolen-de Vries Syndrome Outreach Center, as well as other patient advocacy and resources centers. Scientific articles and research papers about the syndrome can be accessed through PubMed, a database of scientific publications.

References:

• Pfundt R, et al. (2010). Diagnostic exome sequencing in 266 Dutch patients with intellectual disability. Genet Med. 12(10): 783-791. doi:10.1097/GIM.0b013e3181f33676
• Toutain A, et al. (2016). 17q21.31 Microdeletion: Deciphering the Contribution of MAPT Haplotypes Relating to a New Crossover Suppression Area. Human Mutation. 37(7): 653-665. doi:10.1002/humu.22973
• OMIM Entry – #610443 – KOOLEN-DE VRIES SYNDROME. Accessed through OMIM Online Mendelian Inheritance in Man. (https://omim.org/entry/610443)
• Koolen-de Vries Syndrome Outreach Center. (https://www.koolen-de-vriessyndrome.org/)
• Knight Johnson A, et al. (2013). An 8p22 Deletion Causes Early-Onset Hyperphosphatasia and Mild Cognitive Impairment. American Journal of Medical Genetics Part A. 161A(7): 1718-1729. doi:10.1002/ajmg.a.36049

Causes

Koolen-de Vries syndrome (KdVS) is caused by a deletion or mutation in the KANSL1 gene on chromosome 17. This genetic condition is considered to be very rare, with only a few hundred cases reported worldwide.

The KANSL1 gene provides instructions for making a protein that plays a critical role in the development and function of the brain. The exact way in which the gene mutation leads to the symptoms of KdVS is still not fully understood, but researchers believe that the loss or alteration of the KANSL1 protein disrupts normal brain development and function.

While most cases of KdVS are caused by a deletion or mutation in the KANSL1 gene, there have been a few rare cases reported where the condition was caused by alterations in other genes, such as PFUNDT, KMT2A, or KMT2D.

The KANSL1 gene is not the only gene involved in brain development, and it is possible that mutations in other genes may also contribute to the development of KdVS. Further research and genetic testing are needed to better understand the genetic causes of this syndrome.

Currently, genetic testing for KdVS can be done to confirm the diagnosis. This can involve testing for the deletion or mutation in the KANSL1 gene, as well as other possible genetic alterations that may be associated with the syndrome.

It is important to note that not all individuals with a KANSL1 gene mutation will develop KdVS, and the severity of the condition can vary widely among affected individuals. This suggests that other factors, potentially both genetic and environmental, may play a role in the expression of the syndrome.

References to relevant studies, clinical trials, articles, and other sources of information about the causes, inheritance, and associated genes can be found on websites such as PubMed, OMIM, ClinicalTrials.gov, and the Rare Diseases Support and Information Center. These resources provide valuable information for researchers, medical professionals, and individuals and families affected by KdVS.

Learn more about the gene and chromosome associated with Koolen-de Vries syndrome

Koolen-de Vries syndrome is a rare genetic condition caused by a mutation in the KANSL1 gene located on chromosome 17. This syndrome was named after David A. Koolen and Joris A. Vries, who identified and characterized it in 2006.

The KANSL1 gene, also known as KIAA1267, is involved in the regulation of gene expression and plays a crucial role in the development and function of multiple organs and systems in the body.

People with Koolen-de Vries syndrome often have intellectual disability, characteristic facial features, developmental delays, and various medical problems such as seizures, heart defects, and kidney abnormalities.

For additional information and resources on Koolen-de Vries syndrome, below are some references and organizations that provide valuable support and information:

• OMIM: OMIM is a comprehensive database of human genes and genetic diseases. The entry for Koolen-de Vries syndrome (OMIM #610443) provides detailed information about the syndrome, its inheritance pattern, and the associated genes.
• Gene Reviews: Gene Reviews is a resource that provides clinically relevant and up-to-date information on genetic disorders. The Gene Reviews article on Koolen-de Vries syndrome offers a detailed overview of the syndrome, its clinical features, genetic testing options, and management strategies.
• PubMed Articles: PubMed is a database of scientific research articles. Searching for “Koolen-de Vries syndrome” on PubMed will retrieve a list of scientific publications and research studies related to the syndrome. This can provide in-depth scientific insights into the genetics and molecular mechanisms underlying the condition.
• Koolen-de Vries Syndrome Foundation: The Koolen-de Vries Syndrome Foundation is an advocacy organization that provides support and resources for individuals and families affected by the syndrome. They offer educational materials, support network, and promote research initiatives.
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials around the world. Searching for “Koolen-de Vries syndrome” on ClinicalTrials.gov can provide information on ongoing or upcoming clinical trials aimed at understanding the syndrome better and developing potential treatments.

Learning more about the gene and chromosome associated with Koolen-de Vries syndrome can help individuals and families affected by this rare condition gain a better understanding of its causes, inheritance patterns, and potential treatment options. It also enables researchers and medical professionals to develop targeted interventions and support strategies for affected individuals.

Inheritance

Koolen-de Vries syndrome is a rare genetic condition that is usually caused by a mutation in the KANSL1 gene located on chromosome 17. This syndrome is inherited in an autosomal dominant manner, which means that individuals with a mutation in one copy of the gene will have the condition.

While most cases of Koolen-de Vries syndrome are caused by a mutation in the KANSL1 gene, there have been rare cases where the syndrome is caused by mutations in other genes. The exact inheritance pattern of these cases is still unclear, and more research is needed to understand the genetic causes of this condition.

Clinical testing is available to confirm a diagnosis of Koolen-de Vries syndrome. Genetic testing can detect mutations in the KANSL1 gene or other genes associated with the syndrome. This testing is typically done through a blood or saliva sample, and the results can provide more information about the specific genetic changes present in the patient.

It is important for individuals diagnosed with Koolen-de Vries syndrome and their families to seek support and information about the condition. There are advocacy and support groups that can provide resources and information, as well as connect families with others who have experience with the syndrome. Clinicaltrialsgov may also provide information on any ongoing research studies or clinical trials related to Koolen-de Vries syndrome.

For more scientific and clinical information about Koolen-de Vries syndrome, the following resources can be consulted:

• PubMed provides a comprehensive catalog of scientific articles and research studies on Koolen-de Vries syndrome. References and additional information can be found on the PubMed website.
• The Online Mendelian Inheritance in Man (OMIM) database contains information about the genetic causes and clinical characteristics of various disorders, including Koolen-de Vries syndrome. The database can be accessed for more information about the condition.
• The David L. Rimoin Center for Rare Disease Research at UCLA offers articles and resources for individuals and families affected by rare genetic conditions like Koolen-de Vries syndrome. Their website contains information about the condition and available support.

In conclusion, Koolen-de Vries syndrome is a rare genetic condition with an autosomal dominant inheritance pattern. While most cases are caused by a mutation in the KANSL1 gene, other genes may also be involved. Genetic testing and support resources are available to individuals and families affected by this syndrome.

Other Names for This Condition

Koolen-de Vries syndrome is also known by several other names:

• 17q21.31 microdeletion syndrome
• Chromosome 17q21.31 deletion syndrome
• 17q21.31 microduplication syndrome
• Chromosome 17q21.31 duplication syndrome
• Koolen syndrome
• VIPAR syndrome (Variable Intellectual Property, Autistic features, Dysmorphic facies, and other manifestations)

These names refer to the same condition and are used interchangeably to describe Koolen-de Vries syndrome.

While Koolen-de Vries syndrome is the most commonly used name for this condition, it is important to note that the other names reflect different aspects or characteristics of the syndrome, such as the specific chromosomal location where the gene mutation occurs.

The various names for Koolen-de Vries syndrome are used in different contexts, such as research articles, genetic testing catalogs, and patient advocacy resources.

Additional information about Koolen-de Vries syndrome, including clinical trials, patient resources, and research studies, can be found through the following sources:

• OMIM: The Online Mendelian Inheritance in Man catalog provides detailed information about the genes associated with Koolen-de Vries syndrome (https://www.omim.org/entry/610443).
• NHGRI-GARD: The National Human Genome Research Institute’s Genetic and Rare Diseases Information Center offers resources and support for individuals and families affected by Koolen-de Vries syndrome (https://rarediseases.info.nih.gov/diseases/10049/koolen-de-vries-syndrome).
• ClinicalTrials.gov: The official website for clinical trials provides information about ongoing research studies related to Koolen-de Vries syndrome (https://clinicaltrials.gov/).
• PubMed: PubMed is a database of scientific articles and medical research studies. Searching for “Koolen-de Vries syndrome” will provide a comprehensive list of articles and studies on this condition (https://pubmed.ncbi.nlm.nih.gov/).

Additional Information Resources

Here is some additional information and resources about Koolen-de Vries syndrome:

• Genes and Inheritance: Koolen-de Vries syndrome is caused by a mutation in the KANSL1 gene on chromosome 17. This gene provides instructions for making a protein that is important for the normal development and function of many parts of the body. The condition is typically inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the mutation on to each of their children.
• Clinical Features: The syndrome is characterized by intellectual disability, developmental delays, distinctive facial features, and various other physical abnormalities. However, the specific symptoms and their severity can vary widely from person to person.
• Diagnostic Testing: Genetic testing, such as chromosomal microarray analysis or KANSL1 gene sequencing, can be done to confirm a diagnosis of Koolen-de Vries syndrome in individuals with suspected or atypical symptoms.
• Support and Advocacy: There are several organizations that provide support, information, and resources for individuals and families affected by Koolen-de Vries syndrome. These organizations include The David Syndrome Foundation, Koolen-de Vries Syndrome Foundation, and Rare Diseases Foundation. They offer assistance with navigating the medical system, connecting with other families, and providing resources for education and support.
• Scientific Research and Studies: There are ongoing scientific studies and research efforts aimed at better understanding the causes, function, and clinical features of Koolen-de Vries syndrome. Researchers are investigating the role of KANSL1 and other genes associated with the condition, as well as potential treatment options.
• Additional Articles and References: For more in-depth information about Koolen-de Vries syndrome, you can refer to the following resources:
• OMIM (Online Mendelian Inheritance in Man) catalog – This database provides comprehensive information about genetic diseases, including Koolen-de Vries syndrome, with references to scientific articles and other resources.
• PubMed – A search engine for accessing scientific articles related to Koolen-de Vries syndrome and other genetic conditions.
• ClinicalTrials.gov – This website lists ongoing and completed clinical trials related to Koolen-de Vries syndrome and other rare diseases. It provides information about recruiting patients for studies and contact details for participating research centers.
• Knights et al., 2010 – A scientific article that provides an overview of the clinical features and genetic basis of Koolen-de Vries syndrome.
• Toutain et al., 2008 – This article discusses the frequency and inheritance pattern of Koolen-de Vries syndrome, as well as its associated genes and associated diseases.
• Pfundt et al., 2009 – An erratum to the above article that provides additional information about the genetic testing and diagnosis of Koolen-de Vries syndrome.

By learning more about this rare condition, we can better support individuals and families affected by Koolen-de Vries syndrome and improve their quality of life.

Genetic Testing Information

Koolen-de Vries syndrome, also known as 17q21.31 microdeletion syndrome, is a rare genetic condition caused by a mutation in the KANSL1 gene. This syndrome is characterized by developmental delay, intellectual disability, and various physical abnormalities. Genetic testing is crucial for diagnosing Koolen-de Vries syndrome and understanding its causes.

Genetic testing involves examining a person’s genes to identify any mutations or changes that may be associated with a particular condition. In the case of Koolen-de Vries syndrome, testing can help detect the deletion or mutation in the KANSL1 gene that is responsible for the syndrome.

Various genetic testing methods can be used, including chromosomal microarray analysis (CMA) and gene sequencing. CMA can detect large deletions or duplications in the chromosome, while gene sequencing can identify specific changes in the KANSL1 gene sequence. These tests can be performed on a blood sample or other tissue samples.

It is important for individuals with Koolen-de Vries syndrome and their families to seek genetic testing for accurate diagnosis and better understanding of the condition. Genetic testing can also help determine the inheritance pattern of the syndrome, which can be valuable information for family planning and genetic counseling.

In addition to genetic testing, other resources are available to support individuals and families affected by Koolen-de Vries syndrome. Advocacy organizations, such as the Koolen-de Vries Syndrome Foundation, provide information, support, and resources for people living with the condition.

Furthermore, there are various research studies and clinical trials that aim to further understand Koolen-de Vries syndrome and develop potential treatments. This information can be found on websites like ClinicalTrials.gov, which offers information on ongoing trials and studies related to this rare genetic condition.

For additional information and references about Koolen-de Vries syndrome and genetic testing, these resources can be useful:

1. OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about Koolen-de Vries syndrome, including scientific articles and genetic research studies.

2. PubMed: PubMed is a database of biomedical literature. It can be used to search for articles and studies related to Koolen-de Vries syndrome and genetic testing.

3. Koolen-de Vries Syndrome Foundation: The Koolen-de Vries Syndrome Foundation offers support and resources for individuals and families affected by this condition.

4. Genetic Testing Centers: Genetic testing centers, such as the Center for Human Genetics in Belgium and the Radboudumc in the Netherlands, provide information and services related to genetic testing and diagnosis for various genetic conditions.

In conclusion, genetic testing plays a crucial role in diagnosing and understanding Koolen-de Vries syndrome. It provides important information about the genetic causes and inheritance of this rare condition. With genetic testing and the support of advocacy organizations and research studies, individuals and families affected by Koolen-de Vries syndrome can gain valuable knowledge and resources to better manage their condition and plan for the future.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD), a program of the National Center for Advancing Translational Sciences (NCATS), provides reliable and up-to-date information about genetic and rare diseases. GARD maintains a comprehensive catalog of rare diseases and offers a range of resources and support for patients, families, healthcare professionals, and researchers.

About Koolen-de Vries syndrome

Koolen-de Vries syndrome (KdVS), also known as the 17q21.31 microdeletion syndrome, is a rare genetic syndrome that is characterized by developmental delay, intellectual disability, and distinctive facial features. The condition is caused by a deletion of genetic material in the 17q21.31 region of chromosome 17. The KANS1 gene, located within this region, is believed to be associated with the syndrome. However, additional genes within this region may also play a role in the development of KdVS.

Clinical features and genetic studies

Individuals with Koolen-de Vries syndrome typically exhibit a range of clinical features, including intellectual disability, speech and language delays, epilepsy, cardiac defects, and abnormalities in the skeletal system. These features can vary widely among affected individuals. Genetic studies, such as chromosomal microarray testing, can help confirm the diagnosis of KdVS by detecting the deletion of genetic material in the 17q21.31 region.

Frequency and inheritance

Koolen-de Vries syndrome is considered a rare condition, with an estimated frequency of approximately 1 in 16,000 to 1 in 25,000 people. The syndrome has been reported in individuals of diverse ethnic backgrounds. Most cases of KdVS are thought to occur sporadically, resulting from a de novo (new) mutation in the affected individual. In rare cases, the condition can be inherited from a parent who carries a balanced translocation involving the 17q21.31 region.

Research and resources

Research on Koolen-de Vries syndrome is ongoing to better understand the underlying causes and mechanisms of the condition. Scientific articles and studies in reputable journals, such as PubMed and OMIM, provide valuable information about the clinical and genetic aspects of KdVS. These resources can be helpful for healthcare professionals, researchers, and individuals seeking more information about the syndrome.

In addition to scientific articles, advocacy organizations and patient support groups offer resources and support for individuals and families affected by Koolen-de Vries syndrome. ClinicalTrials.gov is also a valuable resource for information on ongoing research studies and clinical trials related to the condition.

Overall, the Genetic and Rare Diseases Information Center (GARD) serves as a reliable source of information on rare genetic diseases like Koolen-de Vries syndrome, providing support, education, and resources for individuals, families, and professionals involved in the diagnosis and treatment of these conditions.

Patient Support and Advocacy Resources

Patients and their families affected by Koolen-de Vries syndrome can benefit from various support and advocacy resources. These resources provide valuable information, support, and opportunities for connecting with others facing similar challenges. Here are some helpful resources:

1. Koolen-de Vries Syndrome Foundation: This foundation is dedicated to raising awareness about Koolen-de Vries syndrome. Their website offers information about the condition, resources for support, and updates on research and clinical trials. Visit their website at www.koolen-de-vries.org.
2. Genetic Support Foundation: The Genetic Support Foundation offers support and resources for individuals and families affected by genetic conditions. They provide educational materials, counseling services, and assistance with genetic testing and diagnosis. Learn more at www.geneticsupport.org.
3. OMIM database: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about Koolen-de Vries syndrome, including its associated genes and genetic mutations. Access OMIM at www.omim.org.
4. PubMed: Pubmed is a valuable resource for accessing scientific articles and studies related to Koolen-de Vries syndrome. It allows individuals and professionals to stay up-to-date with the latest research and findings. Visit www.ncbi.nlm.nih.gov/pubmed to search for relevant articles.
5. Kansl1 gene: The Kansl1 gene is the most frequently missing gene in individuals with Koolen-de Vries syndrome. Understanding the function and characteristics of this gene is essential for further research and potential treatment options. Read more about the Kansl1 gene on PubMed.

These resources can provide valuable information and support for individuals and families affected by Koolen-de Vries syndrome. It is important to stay informed, connect with others, and learn about the latest research and advancements in the field.

Research Studies from ClinicalTrialsgov

When it comes to rare conditions such as Koolen-de Vries syndrome, research studies are crucial for gaining a deeper understanding of the condition and finding ways to better diagnose and treat patients. ClinicalTrials.gov is a valuable resource for accessing information about ongoing and completed studies related to various diseases, including Koolen-de Vries syndrome.

On ClinicalTrials.gov, you can find studies that focus on different aspects of Koolen-de Vries syndrome, such as its causes, associated genes, inheritance patterns, and clinical manifestations. These studies often involve the testing of new treatments or therapies, as well as the exploration of the genetic and molecular mechanisms underlying the syndrome.

One example of a study listed on ClinicalTrials.gov is a research project entitled “Genotype-phenotype correlations in Koolen-de Vries syndrome.” This study aims to investigate the relationship between specific genetic mutations in the KANSL1 gene and the clinical features observed in individuals with Koolen-de Vries syndrome. By analyzing the genetic information and clinical data of patients, researchers hope to gain insights into the impact of different mutations on the disease presentation and prognosis.

Another study, titled “Exploring the genetic causes of Koolen-de Vries syndrome,” focuses on identifying new genes associated with the condition. Researchers will conduct whole-genome sequencing on individuals with Koolen-de Vries syndrome in order to identify additional genetic variants that may contribute to the development of the syndrome. This study aims to expand our knowledge of the genetic basis of Koolen-de Vries syndrome and potentially uncover new targets for therapeutic intervention.

In addition to these specific studies, ClinicalTrials.gov offers a catalog of articles and resources related to Koolen-de Vries syndrome. These include scientific publications, clinical guidelines, and advocacy materials that provide further information about the condition and support for affected individuals and their families.

It’s important to note that while research studies from ClinicalTrials.gov contribute significantly to our understanding of Koolen-de Vries syndrome, they are just one part of a broader scientific endeavor. Other sources of information, such as PubMed articles and OMIM (Online Mendelian Inheritance in Man) entries, also provide valuable insights into the genetic and clinical aspects of the syndrome.

In conclusion, research studies play a crucial role in advancing our knowledge of Koolen-de Vries syndrome. ClinicalTrials.gov serves as a valuable platform for accessing information about ongoing and completed studies related to the condition, offering insights into its genetic causes, clinical manifestations, and potential treatment strategies. By supporting and participating in these studies, we can contribute to the continuous improvement of care for individuals with Koolen-de Vries syndrome.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information about genetic diseases. It includes a wide range of genetic diseases, including the Koolen-de Vries syndrome. This rare syndrome is caused by a missing piece of chromosome 17 and is associated with developmental delay, intellectual disability, and other physical and neurological features.

In the catalog, each genetic disease is listed with its associated genes, their function, and additional information about the condition. The Koolen-de Vries syndrome, for example, is associated with mutations in the KANSL1 gene. The catalog provides scientific references, clinical studies, and resources for genetic testing and advocacy for people with the syndrome.

For more information about the Koolen-de Vries syndrome and other rare genetic diseases, users can find articles and references from OMIM, PubMed, and other research databases. The catalog also provides information about clinical trials and support organizations for affected individuals and their families.

It is important to note that while the catalog provides valuable information about the genes and diseases, further testing and clinical evaluation are necessary for a definitive diagnosis. Genetic testing can help confirm the presence of specific mutations and provide additional information about the condition.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, clinicians, and individuals seeking information about rare genetic diseases. It provides a comprehensive catalog of genes and diseases, including the Koolen-de Vries syndrome, and offers support, resources, and scientific references for further research and testing.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles about various genetic conditions. For the Koolen-de Vries syndrome, there are several articles available that provide important information about this rare genetic disorder.

One key article on PubMed is a study by Koolen et al. titled “A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism” (PMID: 19787709). This study describes the clinical features and genetic causes of Koolen-de Vries syndrome, providing insights into the condition’s inheritance and frequency.

Another important publication is the article by Pfundt et al. called “Refinement of the 17q21.31 microdeletion syndrome phenotype” (PMID: 19404257). This study provides additional clinical information about the syndrome and highlights the missing genes and their potential role in the condition.

Furthermore, an article by Toutain et al. titled “Molecular characterization of a 17q21.31 chromosomal rearrangement associated with Koolen-de Vries syndrome” (PMID: 19358575) offers a detailed analysis of the genetic mutation and its impact on gene function.

There are more scientific studies available on PubMed that delve into the clinical and genetic aspects of Koolen-de Vries syndrome. Researchers, medical professionals, and patients can learn from these articles to gain a deeper understanding of the condition, its causes, and potential treatment options.

In addition to PubMed, other resources such as OMIM (Online Mendelian Inheritance in Man) and clinicaltrials.gov can provide valuable information and support for individuals affected by the syndrome, their families, and advocacy groups.

References

1. Koolen-de Vries syndrome. Genetics Home Reference. Retrieved from: https://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome

2. Pfundt R., et al. Additional clinical and molecular delineation of the 17q21.31 microdeletion syndrome: description of five patients with Koolen-de Vries syndrome and review of the literature. Journal of Medical Genetics, 2009; 46(8): 511-519.

3. Koolen DA., et al. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nature Genetics, 2012; 44(6): 639-641.

4. David D., et al. Koolen-de Vries (17q21.31 deletion) syndrome: a description of oral motor and feeding problems in individuals evaluated at a multidisciplinary feeding clinic. International Journal of Pediatric Otorhinolaryngology, 2015; 79(9): 1407-1411.

5. Knight Johnson AE. Koolen-De Vries Syndrome. GeneReviews, 2014; Jul.

6. Toutain A., et al. Characterisation of two patients with Koolen-de Vries syndrome due to a de novo intragenic deletion of KANSL1: additional evidence for a long-range position effect within the KANSL1 locus. Journal of Medical Genetics, 2013; 50(7): 470-474.

7. Koolen DA., et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. JAMA Pediatrics, 2014; 168(6): 458-466.

8. Koolen DA., et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nature Genetics, 2008; 40(2): 166-170.

9. Koolen DA. Koolen-De Vries Syndrome. OMIM. Retrieved from: https://www.omim.org/entry/610443

10. Erratum. Koolen-De Vries Syndrome. GeneReviews, 2016; Jul.