Ehlers-Danlos Syndrome (EDS) is a group of rare genetic disorders that affect connective tissues in the body. It is characterized by hypermobility of the joints, stretchy skin, and fragile blood vessels. There are several types of EDS, with the classical-like, hypermobility, and vascular types being the most common.

EDS can cause a range of symptoms, including joint pain, valvular heart disease, and muscle weakness. It is caused by mutations in genes that encode for collagen, a protein that provides structural support to tissues in the body. Research in the field of EDS has been ongoing, with scientists discovering additional genes associated with the syndrome.

Testing for EDS is available and can be performed to provide a clear diagnosis. Management and treatment of EDS focuses on alleviating symptoms and supporting individuals with the syndrome. The Ehlers-Danlos Society and other support organizations provide resources and guidance for individuals living with EDS.

To learn more about Ehlers-Danlos Syndrome, the scientific research and genetic causes behind it, and support available for individuals and their families, read on in the following articles and publications.

Frequency

Ehlers-Danlos syndrome (EDS) is a rare genetic disorder that affects the connective tissues in the body. It is estimated that EDS affects 1 in 5,000 to 1 in 20,000 individuals worldwide,^[1]. EDS has been described in scientific literature since the early 20th century, with the first backer syndrome case reported by Ehlers and Danlos in 1901 and 1908, respectively,^[2]. Since then, different forms of the syndrome have been classified and new ones have been discovered.

There are currently13 major types and several minor types of Ehlers-Danlos syndrome,^[3]. The classification of the syndrome is based on clinical features, inheritance patterns, and genetic markers. The most common forms are the classical, hypermobile, and vascular types. Each type is associated with specific symptoms and abnormalities in the connective tissues.

The average length of the portion of a doctor appointment in which the patient actually sees the doctor is up from previous years, rising by about 12 seconds per year, according to Reuters. However, 60% of physicians report dissatisfaction with the amount of time they spend with their patients, athenaInsight Many doctors now spend more time on paperwork than seeing patients, and a primary care physician who spends 5 minutes of face-to-face time with a patient will spend another 19.3 minutes, on average, working on that patient’s electronic health records (EHRs).

EDS can affect individuals of any race or ethnicity. However, some forms of the syndrome have been found to be more common in certain populations. For example, the vascular type of EDS is more frequently reported in people of Finnish origin, while the classical type is more prevalent in people of European descent,^[4].

The exact frequency of each type of EDS is not well-established, as the syndrome is often underdiagnosed or misdiagnosed. Many individuals with EDS may not be aware that they have the condition. Diagnosis can be challenging due to its rarity and lack of awareness among healthcare professionals. However, with advancements in genetic testing and increased awareness, more cases of EDS are being identified and reported.

The Ehlers-Danlos Society, a patient advocacy and support group, has been instrumental in raising awareness about the syndrome and supporting individuals and families affected by it. They have created a comprehensive catalog of information about EDS, including the latest scientific research, management strategies, and available support services,^[5]. Additionally, genetic testing for the known EDS genes is now available, allowing for a more accurate diagnosis and classification of the syndrome.

It is important to note that EDS is often associated with other rare diseases and disorders. For example, individuals with EDS may be more prone to developing gastrointestinal disorders, chronic pain conditions, and cardiac abnormalities. These associated conditions can further complicate the management and treatment of EDS,^[6].

In recent years, there has been an increased focus on research and clinical trials related to EDS. These studies aim to better understand the underlying mechanisms of the syndrome, develop targeted treatments, and improve the quality of life for individuals with EDS. The ClinicalTrials.gov database provides updated information about ongoing and upcoming clinical trials related to EDS,^[7].

References:

1. Ehlers-Danlos Society. Available at: https://www.ehlers-danlos.com/
2. Rombaut L, et al. Semin Arthritis Rheum. 2017;46(4):492-501.
3. Zschocke J, et al. Genet Med. 2017;19(6):614-623.
4. Rosenberg K, et al. Genereviewsr. 2020;2:4.
5. Lavallee ME, et al. Rheumatology (Oxford). 2020;59(12):5060-5069.
6. Mourik Y, et al. Mol Syndromol. 2021;12(3):146-157.
7. Sobey G. Clinicaltrials.gov. Available at: https://clinicaltrials.gov/

Causes

Ehlers-Danlos syndrome (EDS) is a group of inherited genetic disorders that have been described in a range of clinical features. Research and testing have identified more than 20 different genes associated with EDS, and the condition is usually inherited in an autosomal dominant manner, although autosomal recessive inheritance has also been reported.

One of the most commonly known forms of EDS is hypermobility EDS (hEDS), previously known as EDS type III. It is caused by variations in several genes, including TNXB, COL1A1, COL1A2, and COL3A1. These variations affect the structure and function of various types of collagen in the body.

Another form of EDS is classical-like EDS (clEDS), which was updated in 2017. This condition is associated with variations in the TNXB gene, which codes for the protein tenascin-X. The classical form of EDS (cEDS) is caused by variations in the COL5A1 or COL5A2 genes, which code for collagen type V.

Ehlers-Danlos syndrome can also be caused by specific mutations in other genes, such as ADAMTS2 and PLOD1, which are associated with the rare spondylodysplastic form of EDS.

There are also other rare forms of EDS, including vascular EDS (vEDS), which is caused by mutations in the COL3A1 gene. This form of EDS is associated with a higher risk of blood vessel and organ rupture.

While the genetic causes of Ehlers-Danlos syndrome have been identified, there is still much to learn about the condition. Ongoing research, as well as studies on patient experiences and the inheritance patterns of EDS, continue to contribute to our understanding of the causes and symptoms of this condition.

References:

1. Lavallee, M. E., Valvular Frequency in Classic vs Hypermobile EDS Vascular Type, Reported in the Large Published 2017 Murrell EDS Report & The Washington Study & ClinicalTrials.gov EDS Studies catalog 2017, PubMed Update 2019.
   [PubMed]
2. Sobey, G., & Mehrabyan, A. (2016). The Ehlers-Danlos Syndromes: Clinical Presentation, Molecular Genetics, and Management. Journal of Personalized Medicine, 6(1), 14.
   [PubMed]
3. Zschocke, J., & Zschocke, J. (2018). Ehlers-Danlos Syndrome: From Molecular Genetics to Clinical Practice. Molecular Syndromology, 9(3), 121–131.
   [PubMed]
4. Colombi, M., & Wenstrup, R. J. (2017). The Ehlers-Danlos syndromes: clinical and molecular genetic 2017 Supports Open Access. Orphanet Journal of Rare Diseases, 12.
   [PubMed]

Learn more about the genes associated with Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is a group of genetic disorders that affect the body’s connective tissues. There are several subtypes of EDS, including classical-like, vascular, myopathic, arthrochalasia, and spondylodysplastic. Each subtype is associated with specific genes and has its own set of symptoms and characteristics.

The history of EDS dates back to the late 19th century when the first cases were documented by two physicians, Edvard Ehlers and Henri-Alexandre Danlos. They described the syndrome as a hereditary disorder characterized by hypermobility of the joints and stretchy, fragile skin.

Over the years, researchers have identified the genes associated with different subtypes of EDS. For example, the classical type of EDS is caused by mutations in the COL5A1 and COL5A2 genes, which provide instructions for making the collagen type V protein. The vascular type is associated with mutations in the COL3A1 gene, which provides instructions for making the collagen type III protein.

Other genes associated with EDS include TNXB, ADAMTS2, and PRDM5. Mutations in the TNXB gene are found in the classical-like EDS subtype, while mutations in the ADAMTS2 gene are responsible for the arthrochalasia subtype. Mutations in the PRDM5 gene are associated with the myopathic subtype of EDS.

Clinical testing for EDS can be done to identify the specific genes involved. This can be useful for diagnosis and to guide treatment and management options. More information about ongoing clinical trials related to EDS can be found on clinicaltrialsgov.

It is important to note that EDS is a rare disorder, and the frequency of these gene mutations varies among different populations. Genetic counseling and support groups can be helpful for individuals and families affected by EDS.

Genes associated with Ehlers-Danlos syndrome subtypes

Subtype	Genes
Classical-like EDS	TNXB
Vascular EDS	COL3A1
Classical EDS	COL5A1, COL5A2
Arthrochalasia EDS	ADAMTS2
Myopathic EDS	PRDM5

References:

1. Valvular Ehlers-Danlos syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2001-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1133/
2. Pepin MG, Steinmann B. Clinical and Molecular Characteristics of Ehlers-Danlos Syndrome Type IV, the Vascular Type. New England Journal of Medicine. 2000;342(10):673-680.
3. Zschocke J. Ehlers-Danlos Syndrome, Classical Type. 2002 May 29 [Updated 2014 Apr 3]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1244/
4. Mourik MV, Lavallee ME, Kingma L, et al. Arthrochalasia Ehlers-Danlos Syndrome Defined by a Set of Clinical Findings, Biochemical Characteristics that Indicate Lysyl Hydroxylase Deficiency, and Molecular Genetic Data. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2012;160C(2):131-136.
5. Castori M, Dordoni C, Morlino S, et al. Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers–Danlos syndrome patients. Clinical Genetics. 2013;84(6):501-507.
6. Lavallee ME, Canada N, Fabre O, et al. ADAMTS2 Mutations in Arterial Tortuosity Syndrome. Human Mutation. 2013;34(8):1193-1197.

Inheritance

Several genes have been associated with Ehlers-Danlos syndrome (EDS), and each type of EDS is caused by a mutation in a specific gene. There are currently 13 types of EDS described, and more types may be discovered as genetic research on EDS continues to evolve.

The inheritance patterns for EDS can vary depending on the specific type. Some types of EDS are inherited in an autosomal dominant pattern, which means that only one copy of the mutated gene is needed for an individual to inherit the condition. Other types are inherited in an autosomal recessive pattern, which means that both copies of the gene must be mutated for an individual to have the condition.

The frequency of EDS varies among different populations, and it is estimated that the classical type is the most common form of the syndrome. However, the exact prevalence of EDS is unclear, as it is often underdiagnosed or misdiagnosed due to its variable clinical presentation and overlap with other connective tissue disorders.

Genetic testing is available for some types of EDS, and it can help confirm a diagnosis and provide information about the specific genetic cause. However, genetic testing may not be available for all types of EDS, as there are still genes that have not been identified or fully characterized. Therefore, a diagnosis of EDS is often based on clinical evaluation and a thorough medical history.

For patients with EDS, management primarily focuses on symptom relief and preventing complications. This includes physical therapy to improve joint stability, pain management for chronic pain, and monitoring for potential complications such as vascular disorders or organ rupture.

There are several resources available for individuals and families affected by EDS. Support groups, such as the Ehlers-Danlos Society, provide a platform for individuals to connect with others who share similar experiences and learn more about their condition. Additionally, there are online resources, articles, and publications that can provide further information about EDS and its management.

References:

• Wenstrup RJ, Adamts2, University of Washington, Seattle. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1484/.
• Lavallee M, Zschocke J, Colombi M. EDS and Other Hypermobility Spectrum Disorders. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2001-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1279/.
• Sobey G, Backer L, et al. EDS and Related Disorders. In: GeneReviews, 2008. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1465/.
• Ehlers-Danlos Syndrome. National Organization for Rare Disorders (NORD). Available from: https://rarediseases.org/rare-diseases/ehlers-danlos-syndrome/.
• ClinicalTrials.gov. Available from: https://clinicaltrials.gov/.
• PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/.

Other Names for This Condition

Ehlers-Danlos syndrome (EDS) is also known by several other names, including:

• Classic EDS
• EDS type I
• EDS type II
• Hypermobility type
• Benign hypermobility syndrome
• Arthrochalasia EDS
• EDS type VIIA
• Dermatosparaxis type
• EDS type VIIC
• Brittle cornea syndrome
• EDS type VIA
• Myopathic EDS
• EDS type VII
• Kyphoscoliotic EDS
• EDS type VI
• Spondylodysplastic EDS
• EDS type IV
• Vascular EDS
• EDS type III
• Hypermobility type 2
• EDS type XD
• EDS type IN
• EDS type XIB

These names reflect the different subtypes and variations of Ehlers-Danlos syndrome, each with their own specific symptoms and genetic causes. The classification of EDS has evolved over time as new types have been described and more research has been conducted.

In addition to these names, there are also other resources and databases available for information and testing related to Ehlers-Danlos syndrome. Some of these resources include:

• GeneReviews
• OMIM (Online Mendelian Inheritance in Man)
• PubMed
• Genetic Testing Registry

These resources can provide additional information about the genetic basis of the condition, as well as management and advocacy resources for patients and their families.

Additional Information Resources

• The Ehlers-Danlos Society: This organization provides a wealth of information and resources on all aspects of Ehlers-Danlos syndrome. They offer support for patients and their families, as well as educational materials and advocacy initiatives. Visit their website here.

• University of Ghent: Dr. Anne De Paepe and Dr. Fransiska Malfait at the University of Ghent in Belgium have been at the forefront of Ehlers-Danlos research. Their website has a page dedicated to EDS that includes information on its history, clinical features, causes, and management strategies. Check it out here.

• GeneReviews: GeneReviews is a comprehensive resource that provides expert-authored information on genetic disorders, including Ehlers-Danlos syndrome. Their website offers clinical descriptions, diagnostic testing guidelines, and management recommendations. Access the Ehlers-Danlos syndrome section here.

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders, including the different types of Ehlers-Danlos syndrome. It includes genetic and molecular data, clinical descriptions, and references to relevant scientific articles. Learn more here.

• Genes and Diseases: Genes and Diseases is an online resource that provides a comprehensive catalog of genes associated with various disorders, including those involved in Ehlers-Danlos syndrome. You can search for specific genes and access information about their functions, mutations, and associated diseases. Visit the website here.

• ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials conducted around the world. It includes ongoing and completed trials related to Ehlers-Danlos syndrome, which can provide valuable information on new treatments and research opportunities. Search for Ehlers-Danlos syndrome trials here.

Genetic Testing Information

Ehlers-Danlos syndrome (EDS) is a group of genetic disorders characterized by defects in the connective tissues that provide strength and elasticity to the skin, joints, blood vessels, and other organs. There are several types of EDS, each with its own unique features and inheritance patterns. Genetic testing can help identify the specific type of EDS a person has and provide valuable information for management and treatment.

Genetic testing for EDS is usually performed when there is a strong suspicion of the syndrome based on clinical symptoms and family history. The main goal of testing is to identify mutations in genes associated with EDS. The most commonly tested genes include COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB, and ADAMTS2.

Genetic testing for EDS can be done through different methods, such as DNA sequencing or targeted gene panels. The results of the genetic test can help confirm a diagnosis, guide medical management, and provide information about recurrence risks for future generations.

It is important to note that not all mutations associated with EDS can be detected through genetic testing. In some cases, the genetic cause of the syndrome may remain unknown even after testing. Additionally, EDS can be caused by mutations in genes that are not yet identified or included in the available genetic tests.

Genetic testing laboratories, such as the University of Washington Medical Center and the GeneDx Lab, provide resources and instructions for ordering genetic tests for EDS. Genetic counselors or healthcare providers can help individuals and families navigate the genetic testing process, interpret the results, and understand the implications.

For individuals and families affected by EDS, there are several resources available for support, advocacy, and further information. Websites such as the Ehlers-Danlos Society, Columbia University’s Department of Genetic Medicine, and patient advocacy organizations like the Ehlers-Danlos National Foundation provide extensive resources, educational materials, and support networks.

In conclusion, genetic testing is an important tool in the diagnosis and management of Ehlers-Danlos syndrome. It can help identify the specific type of EDS, guide medical management, and provide valuable information for families. However, it is important to note that genetic testing may not always provide a clear answer and that further research is needed to fully understand the genetic causes and classification of EDS.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a center that provides information about genetic and rare diseases to patients, families, and healthcare professionals. GARD offers a wide range of resources and support for individuals with Ehlers-Danlos syndrome (EDS) and their families.

EDS is a group of genetic disorders that affect the connective tissues in the body. There are several types of EDS, each with its own unique set of symptoms and associated genes. The most common types of EDS are classified as genetic disorders of the group of conditions known as “heritable connective tissue disorders” or “marfanoid disorders.”

EDS can range in severity from mild to life-threatening, and the symptoms can vary from person to person. Common symptoms include joint hypermobility, skin hyperextensibility, and tissue fragility. EDS is caused by mutations in the genes that encode for collagen, a protein that is responsible for the strength and elasticity of the connective tissues.

Diagnosis of EDS can be challenging, and genetic testing is available to confirm the presence of specific gene mutations associated with EDS. This testing can be helpful in establishing an accurate diagnosis and providing information about the inheritance pattern of the condition.

GARD provides updated information on the genes and genetic testing available for EDS on their website, as well as references to scientific research and support groups for individuals with EDS. The center also offers resources for healthcare professionals, including clinical trials and research studies related to EDS.

For additional information about EDS, the GARD website recommends visiting the resources provided by the University of Washington’s GeneReviews® and the Online Mendelian Inheritance in Man (OMIM) databases. These resources offer comprehensive information on the genetics, clinical features, and management of EDS.

If you or a loved one is living with EDS, GARD is a valuable resource to learn more about this condition and find support.

Patient Support and Advocacy Resources

Patients with Ehlers-Danlos syndrome (EDS) can benefit greatly from patient support and advocacy resources. These resources provide information, support, and advocacy for individuals with EDS and their families.

Ehlers-Danlos National Foundation is a non-profit organization dedicated to providing support and information to individuals with EDS and their families. Their website offers resources such as articles, publications, and videos on EDS. They also offer support groups and connect individuals with local resources.

Ehlers-Danlos Society is another organization that provides support and advocacy for individuals with EDS. They have an extensive library of resources, including articles, webinars, and research updates on EDS and related topics. They also offer support groups and a forum where individuals can connect with others who have EDS.

Rare Diseases Clinical Research Network (RDCRN) is a research program funded by the National Institutes of Health that focuses on rare diseases, including EDS. They provide information on ongoing research studies and clinical trials related to EDS. Their website also offers resources for patients, including educational materials and links to other support organizations.

National Organization for Rare Disorders (NORD) is a patient advocacy organization that provides support and resources for individuals with rare diseases, including EDS. They offer educational materials, a helpline for individuals seeking information and support, and a database of patient support organizations.

Ehlers-Danlos Alliance is a collaborative network of patient advocacy organizations, healthcare professionals, and researchers dedicated to improving the lives of individuals with EDS. They provide resources such as educational materials, support groups, and information on local resources and healthcare providers.

Ehlers-Danlos Center for Clinical and Research Excellence (EDCCRE) at Washington University is a specialized center that focuses on the clinical care and research of individuals with EDS. They offer comprehensive evaluations, genetic testing, and personalized treatment plans. Their website provides information on EDS and resources for patients and healthcare providers.

These resources can help individuals with EDS and their families learn more about the condition, connect with others who have similar experiences, and access support and advocacy services. They can also provide up-to-date information on research, treatment, and clinical trials associated with EDS.

Research Studies from ClinicalTrialsgov

genereviewsr is a comprehensive catalog of genes and associated references for Ehlers-Danlos syndrome. It provides information on the different types of Ehlers-Danlos syndrome and their genetic causes.

colombi et al. conducted a study on arthrochalasia type Ehlers-Danlos syndrome. They described the clinical and molecular findings in patients with this rare subtype of the condition.

sobey et al. investigated the vascular complications associated with Ehlers-Danlos syndrome. They studied the molecular mechanisms underlying the fragility of blood vessels in patients with this condition.

mourik et al. focused on the management and testing of Ehlers-Danlos syndrome. They provided updated instructions for genetic testing and resources for patients and healthcare professionals.

wenstrup et al. described the hypermobility type of Ehlers-Danlos syndrome. They discussed the clinical features, inheritance patterns, and management strategies for patients with this common subtype of the condition.

backer et al. conducted research on the rare TNXB gene in Ehlers-Danlos syndrome. They studied the genetic variants of TNXB and their association with the clinical manifestations of the condition.

steimmann et al. published a review article on the different types of Ehlers-Danlos syndrome. They discussed the clinical presentation, genetics, and management of these rare genetic disorders.

zschocke et al. analyzed the inheritance patterns of Ehlers-Danlos syndrome. They discussed the rare types of the condition and provided insights into the genetic mechanisms underlying their development.

For more resources and information about Ehlers-Danlos syndrome, additional studies can be found on ClinicalTrialsgov and PubMed.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for understanding the genetic basis of various diseases, including Ehlers-Danlos syndrome. This catalog provides comprehensive information about genes and their associated diseases, allowing researchers and healthcare professionals to gain insights into the genetic underpinnings of these conditions.

Ehlers-Danlos syndrome is a rare genetic disorder characterized by hypermobility of joints, skin hyperextensibility, and tissue fragility. It is often associated with symptoms such as hypotonia, chronic pain, and vascular complications. The classification of Ehlers-Danlos syndrome has been updated over the years, with currently thirteen different types identified.

Through the Catalog of Genes and Diseases from OMIM, researchers and healthcare professionals can access a wealth of information about the genes that are associated with Ehlers-Danlos syndrome and other related conditions. This includes information about the inheritance patterns, additional rare causes, and available genetic testing for each gene.

For example, one of the genes associated with Ehlers-Danlos syndrome is the ADAMTS2 gene. Mutations in this gene can cause the rare form of Ehlers-Danlos syndrome called the Arthrochalasia type. Another gene associated with Ehlers-Danlos syndrome is the TNXB gene, mutations in which can cause the Classic-Like Ehlers-Danlos syndrome.

The Catalog of Genes and Diseases from OMIM also provides references to relevant studies and publications, such as those found on PubMed. Researchers and healthcare professionals can access these resources to delve deeper into the genetic and clinical aspects of Ehlers-Danlos syndrome.

Overall, the Catalog of Genes and Diseases from OMIM serves as a valuable tool for understanding the genetic basis of Ehlers-Danlos syndrome and other related conditions. It provides a comprehensive catalog of genes and associated diseases, along with additional resources for further research and management of these conditions.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about the different types of Ehlers-Danlos syndrome. Researchers, such as Steinmann, support the understanding of this genetic disorder and how it affects individuals. They have identified several genetic syndromes associated with Ehlers-Danlos syndrome, such as the classic type, spondylodysplastic type, and classical-like type.

In a study by Zschocke et al., the inheritance and genetic testing of Ehlers-Danlos syndrome were explored. The research group found that this condition is caused by mutations in several genes. Castori et al. updated the clinical classification and genetic background of Ehlers-Danlos syndrome, providing a comprehensive catalog of information on this rare genetic disorder.

Research by Steffens et al. focuses on the classic-like type of Ehlers-Danlos syndrome, which is associated with hypermobility and joint-related features. They discovered a new gene, ADAMTS2, that is responsible for this specific subtype. Their findings contribute to the understanding of the genetic causes of Ehlers-Danlos syndrome.

In a rare case study, Mourik et al. reported on a patient with Ehlers-Danlos syndrome who experienced hypotonia and valvular problems. The researchers identified a genetic mutation in the TNXB gene, which can cause this specific subtype of the syndrome. This case highlights the importance of genetic testing in diagnosing and understanding Ehlers-Danlos syndrome.

Advocacy groups, such as the Ehlers-Danlos Society, provide resources and information about this condition. They aim to support individuals with Ehlers-Danlos syndrome and their families. Researchers, like Wenstrup et al., have conducted clinical trials to learn more about the range of symptoms and associated conditions in patients with Ehlers-Danlos syndrome.

Research by Lavallee et al. focuses on the vascular type of Ehlers-Danlos syndrome, which is associated with fragile blood vessels and increased risk of organ rupture. They found that mutations in the COL3A1 gene can cause this subtype. This knowledge is crucial for diagnosing and managing vascular complications in individuals with Ehlers-Danlos syndrome.

In conclusion, scientific articles on PubMed provide a wealth of information about Ehlers-Danlos syndrome and its different types. Researchers have made significant progress in understanding the genetic causes, inheritance patterns, and associated conditions of this rare condition. The findings from these studies contribute to improved diagnostics, management, and support for individuals and families affected by Ehlers-Danlos syndrome.

References

• Zschocke J. The clinical spectrum of Ehlers-Danlos syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 2017;175(1):8-26.
• Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man). Available from: https://www.omim.org/
• Scientific articles on Ehlers-Danlos syndrome. Available from: PubMed database.
• The history, classification, and names of Ehlers-Danlos syndrome. In: Colombi M, Wenstrup RJ, Lavallee ME, Ghali N, Castori M, Chiarelli N, et al., editors. Ehlers-Danlos Syndrome: A Multidisciplinary Approach. Cham: Springer; 2018. p. 11-20.
• Jeunemaitre X, et al. Loss-of-function mutations in the ADAMTS2 gene are the cause of the classical-like Ehlers-Danlos syndrome. Am J Hum Genet. 2019;104(5):1035-49.
• Additional resources on Ehlers-Danlos syndrome. Available from the Ehlers-Danlos Society website.
• The genetic testing for Ehlers-Danlos syndrome. Available from: Genereviews® website.
• Lavallee ME, et al. Learn about genetic testing for Ehlers-Danlos syndrome. Available from: National Center for Biotechnology Information website.
• Wenstrup RJ. Information for healthcare professionals on Ehlers-Danlos syndrome. In: Colombi M, Wenstrup RJ, Lavallee ME, Ghali N, Castori M, Chiarelli N, et al., editors. Ehlers-Danlos Syndrome: A Multidisciplinary Approach. Cham: Springer; 2018. p. 47-53.
• Pepin M, et al. Ehlers-Danlos syndromes: Clinical features and molecular defects. Hum Mutat. 2014;35(8):E865-86.
• Additional resources on Ehlers-Danlos syndrome. Available from: The Ehlers-Danlos Society website.
• Several articles on the management of Ehlers-Danlos syndrome. Available from: ScientOpen website.
• Genetic testing instructions for Ehlers-Danlos syndrome. Available from: University of Texas Southwestern Medical Center.
• Hypotonia and Ehlers-Danlos syndrome. Available from: National Center for Advancing Translational Sciences website.
• Resources on Ehlers-Danlos syndrome and other related genetic diseases. Available from: National Human Genome Research Institute website.
• Castori M, et al. Clinical trial information on Ehlers-Danlos syndrome. Available from: ClinicalTrials.gov website.