Classical-like Ehlers-Danlos syndrome

Title

Other Names:

EDS due to TNX deficiency; TNX deficiency; Ehlers-Danlos syndrome, classic-like type; EDS due to TNX deficiency; TNX deficiency; Ehlers-Danlos syndrome, classic-like type; EDS, classic-like type; Classical-like EDS; clEDS; Ehlers-Danlos syndrome due to tenascin-X deficiency See More

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Lung Diseases; Congenital and Genetic Diseases; Digestive Diseases; Lung Diseases; Mouth Diseases; Skin Diseases See More

Summary Summary

Classical-like Ehlers-Danlos syndrome (EDS due to tenascin-X (TNX) deficiency) is a form of Ehlers Danlos Syndrome (EDS) characterized by an unusually large range of joint movement (hypermobility), skin that is soft, stretchy, and fragile and easy bruising. Other signs and symptoms might include: muscle weakness and wasting (atrophy), and protrusion of part of the stomach through the diaphragm in the chest cavity (hiatal hernia).^[1]^[2]

Classical-like EDS is caused by mutations in both copies of the TNXB gene and is inherited in an autosomal recessive manner; however, some individuals with a mutation in only one copy of the TNXB gene can have symptoms similar to EDS hypermobility type including joint hypermobility and soft skin. These individuals do not typically have easy bruising and stretchy skin.^[2]^[3]

Some individuals with classical-like EDS can have larger deletions of genetic material including other genes. These individuals may have additional symptoms. For example, sometimes deletions include both the TNXB gene and the CYP21A2 gene. Mutations within this gene are associated with one type of congenital adrenal hyperplasia (CAH), a group of genetic conditions that affect the glands that sit on top of the kidneys (adrenal glands).^[3]^[4]

There is no cure for classical-like EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.^[3]

Last updated: 4/20/2017

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Joint hyperflexibility		0005692
30%-79% of people have these symptoms
Arthralgia	Joint pain	0002829
Bruising susceptibility	Bruise easily Easy bruisability Easy bruising [ more ]	0000978
Fatigue	Tired Tiredness [ more ]	0012378
Hyperextensible skin	Hyperelastic skin Skin hyperelasticity Stretchable skin [ more ]	0000974
Muscular hypotonia	Low or weak muscle tone	0001252
Myalgia	Muscle ache Muscle pain [ more ]	0003326
Proximal muscle weakness		0003701
Sensory neuropathy		0000763
Skeletal muscle atrophy	Muscle degeneration Muscle wasting [ more ]	0003202
Thin skin		0000963
5%-29% of people have these symptoms
Adrenal hypoplasia	Small adrenal glands	0000835
Arrhythmia	Abnormal heart rate Heart rhythm disorders Irregular heart beat Irregular heartbeat [ more ]	0011675
Gastrointestinal hemorrhage	Gastrointestinal bleeding	0002239
Increased connective tissue		0009025
Mitral valve prolapse		0001634
Muscle fiber splitting		0003555
Precocious atherosclerosis		0004416
Proximal amyotrophy		0007126
Spina bifida occulta		0003298
Stroke		0001297
Percent of people who have these symptoms is not available through HPO
Ambiguous genitalia, female		0000061
Autosomal recessive inheritance		0000007
Bicornuate uterus		0000813
Hiatus hernia	Stomach hernia	0002036
Joint hypermobility	Double-Jointed Flexible joints Increased mobility of joints [ more ]	0001382
Soft skin		0000977
Vesicoureteral reflux		0000076

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 4/1/2018

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Classical-like Ehlers-Danlos syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Ehlers-Danlos Society
PO Box 87463
Montgomery Village, MD 20886
Telephone: 410-670-7577
E-mail: info@ehlers-danlos.com
Website: http://ehlers-danlos.com/
Ehlers-Danlos Support UK
PO Box 748
Borehamwood WD6 9HU
United Kingdom
Toll-free: 0800 907 8518 (in the UK)
Telephone: 0208 736 5604
E-mail: director@ehlers-danlos.org
Website: http://www.ehlers-danlos.org
The Zebra Network
1122 Kenilworth Drive
Suite 307
Towson, MD 21204
Telephone: 410-825-0995
E-mail: victoria@thezebranetwork.org
Website: http://thezebranetwork.org/

Social Networking Websites

RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Education Resources

The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

Community Resources

The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Classical-like Ehlers-Danlos syndrome. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Classical-like Ehlers-Danlos syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

National DNA Day Reddit "Ask Me Anything" (AMA) Series
April 11, 2018

Related Diseases Related Diseases

The following diseases are related to Classical-like Ehlers-Danlos syndrome. If you have a question about any of these diseases, you can contact GARD.

Ehlers-Danlos syndromes

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Have a question? Contact a GARD Information Specialist.

References References

Victor A. McKusick. EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY. In: Cassandra L. Kniffin. OMIM. 8/26/2014; https://omim.org/entry/606408. Accessed 11/8/2016.
TNXB gene. Genetics Home Reference. November 2015; https://ghr.nlm.nih.gov/gene/TNXB. Accessed 11/8/2016.
Levy, Howard P.. Ehlers-Danlos Syndrome, Hypermobility Type. GeneReveiws. March 31, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1279/. Accessed 11/8/2016.
Deborah P. Merke,corresponding author Wuyan Chen, Rachel Morissette, Zhi Xu, Carol Van Ryzin, Vandana Sachdev, Hwaida Hannoush, Sujata M. Shanbhag, Ana T. Acevedo, Miki Nishitani, Andrew E. Arai, Nazli B. McDonnell. Tenascin-X Haploinsufficiency Associated with Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab. Jan. 2, 2013; 98(2):E379-E387. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565116/.