Cookies help us deliver our services. By using our services, you agree to our use of cookies. Learn more

Ehlers-Danlos Syndrome Type 3

What is Ehlers-Danlos Syndrome Type 3?

Ehlers-Danlos Syndrome Type 3 (EDS3) is a rare genetic disorder where collagen in the connective tissues are defective. Inheritance of the disorder follows an autosomal dominant pattern. The specific genetic cause is still unknown. However, a number of affected individuals have a mutation on the TNXB gene. Some common symptoms are joint hypermobility (where joint movement exceeds the expected range ) in the elbows, knees, fingers, or toes, stretchy and elastic skin that bruises easily, and chronic pain in the muscles and bones. Among the group of related disorders categorized as Ehlers-Danlos Syndrome, EDS3 is often defined as the least severe form.
 

 

Ehlers-Danlos Syndrome Type 3 (EDS3) is a rare genetic disorder where collagen in the connective tissues are defective. Inheritance of the disorder follows an autosomal dominant pattern. The specific genetic cause is still unknown. However, a number of affected individuals have a mutation on the TNXB gene. Some common symptoms are joint hypermobility (where joint movement exceeds the expected range ) in the elbows, knees, fingers, or toes, stretchy and elastic skin that bruises easily, and chronic pain in the muscles and bones. Among the group of related disorders categorized as Ehlers-Danlos Syndrome, EDS3 is often defined as the least severe form.
 

Acknowledgement of Ehlers-Danlos Syndrome Type 3 has not been added yet.

The estimated prevalence of EDS3 worldwide is 1 in 5,000 to 20,000 people. However, the prevalence of all EDS types are at least 1 in 5,000. EDS3 is the most common type. Other types of EDS are more rare, with an incidence of 1 in 40,000.
 

Synonyms for Ehlers-Danlos Syndrome Type 3 has not been added yet.

EDS3 is an inherited genetic condition. The exact cause is unknown. In a small percentage of cases, a mutation on the TNXB gene is observed. Mutations on the TNXB gene leads to a reduced level of protein tenascin-X. This changes the way collagen is deposited, and results in problems with the elastic fibers in the joints. Inheritance of the disease follows an autosomal dominant pattern. This means only one copy of the gene needs to be mutated to cause the disorder in an individual.
 

Some common symptoms experienced by patients with EDS3 include hyperextensible and soft skin, spontaneous full or partial dislocations that cause chronic pain, degenerative joint disease, bruising, bowel issues, cardiovascular autonomic dysfunction, and psychological issues. Joint hypermobility is more commonly observed in females and young children. Additional symptoms found in EDS include fatigue, functional gastrointestinal disorders, sleep disturbance, anxiety, depression, dysautonomia, and postural orthostatic tachycardia. However, it must be noted that these conditions are non-specific to EDS.

 

Many of the symptoms of described above are non-specific for EDS3, making it difficult to diagnose EDS3 based on symptoms. Diagnosis of EDS3 requires an evaluation of clinical characteristics and family history. Three of the following criterias specific to EDS3 must be met for diagnosis:

  • Generalized joint hypermobility
  • Evidence of syndromic features, musculoskeletal complications, and/or family history
  • Exclusion of alternative diagnoses

 

The Beighton score is used to determine joint hypermobility. Scores of 5 or greater defines generalized joint hypermobility. The diagnostic score required is lower (4 or greater) for individuals aged 50+ and higher (6 or greater) for young children.  
 

Disorder treatments vary depending on the symptoms present. Physical therapy can be used to help strengthen muscles and help with joint stability. In some affected individuals with more severe joint instability, braces, wheelchairs, or other assistive devices may be required. Wheelchairs or scooters can help offload the stress on the lower-extremities. Chronic muscle and bone pain may be managed using pain medications. Lastly, counselling can be useful to help with the psychological and pain associated with the disease.

 

Depending on the severity of the symptoms experienced by the individual, the prognosis of EDS3 can vary. Life-expectancy is not usually affected. However, quality of life can be affected by chronic pain and joint instability. If symptoms are more severe, they can also impact daily function.

 

If you are searching for medical advice, specialists in EDS3 can be found through support and advocacy groups, or directories such as the EDS Medical Professionals Directory. Some support groups available to aid individuals and families affected by EDS3 such as:

  • EDS Awareness
  • Ehlers-Danlos Society
  • Ehlers-Danlos Support UK

 

Hypermobile Ehlers-Danlos Syndrome

Howard P Levy, MD, PhD.

Initial Posting: October 22, 2004; Last Revision: June 21, 2018.

https://www.ncbi.nlm.nih.gov/books/NBK1279/

 

Hypermobility Syndrome (Joint Hypermobility Syndrome)

Medicine Net

https://www.medicinenet.com/hypermobility_syndrome/article.htm#what_causes_joint_hypermobility_syndrome

 

Hypermobile Ehlers-Danlos syndrome

National Center for Advancing Translational Sciences

Genetic and Rare Diseases Information Center

https://rarediseases.info.nih.gov/diseases/2081/hypermobile-ehlers-danlos-syndrome

 

Ehlers-Danlos syndrome, type 3

https://www.ncbi.nlm.nih.gov/gtr/conditions/C0268337/


 

2021 EDS Cognition study recruitment Created by eds-cognition_greg
Last updated 30 May 2021, 06:36 PM

Hello! Created by starscream
Last updated 8 Jun 2020, 06:06 PM

Posted by starscream
8 Jun 2020, 06:06 PM

I'm new and just wanted to reach out and say hello. I've never gotten to talk to anyone else with EDS before so I'm really happy that I found this site. Hope you're all doing well in quarantine. 

-Ali

Hello my follow Zebras Created by InfernoFire
Last updated 8 Aug 2014, 05:33 PM

Posted by eulalia
8 Aug 2014, 05:33 PM

Hello. That's great you got the diagnosis so young - sometimes people go through years or even decades of incorrect or ambiguous diagnosis. Do you use any other online groups? Here's are some links to "active groups":http://www.pinterest.com/OREDS/forums-support-eds-ehlers-danlos-syndrome/. Lot's of other info linked from the "home page":http://www.pinterest.com/OREDS/ too. What's on your mind today?

Posted by lancastermtn
21 Jul 2014, 06:00 AM

I have EDS type III with cross over of others. I look forward to discussing daily life with this ever morphing disorder. Each day presents new challenges and learning new ways to adapt so EDS doesn't rule my life. It's very frustrating and hard on my family members to see me in so much pain. Have you read The spoon theory yet? Google it or go to...www.idontlooksick.com I believe. Great articles.

Posted by InfernoFire
30 May 2014, 03:59 AM

Hey I am Jess I am 23 and I have suspected type 3 and 4 Ehlers Danlos Syndrome. I am looking for other sufferers to chat with and talk about the experiences of this frustrating disorders.

For Doux Created by kaycee
Last updated 19 Feb 2011, 05:15 PM

Posted by kaycee
19 Feb 2011, 05:15 PM

above message was for doux..kaycee

Posted by kaycee
19 Feb 2011, 05:14 PM

I would like to ask you some questions if you come back to the sight,,my family members have ehlers danlos type symptoms but we are also being evaluated for andersen tawil syndrome another condition related to chromosome 17..You seem to have some of the facial features of andersen tawil

Hello Created by kaycee
Last updated 29 Sep 2009, 02:21 AM

Posted by kaycee
29 Sep 2009, 02:21 AM

Hello everyone!! How is everyone. No one has started a discussion yet so I thought i would get you guys going and ask how everyone found out about ehlers danlos and perhaps how you were diagnosed,, dont be afraid to post questions and ask for input from others as that is why most of us are here!! kaycee i have aquestion for doux if he comes back!!

Community Resources
Title Description Date Link
Ehlers-Danlos Syndrome, Hypermobility Type

GeneTests description for EDS III.

03/20/2017
Ehlers Danlos National Foundation

Ehlers Danlos National Foundation

03/20/2017

Clinical Trials


Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

Community Leaders

 

Expert Questions

Ask a question

Community User List

Hi there! I'm a 21-year-old university student with a passion for science, theatre, and disability justice. I was recently diagnosed with obstructive hydrocephalus due to aqueductal stenosis...

I am in the middle of a working dignosis for EDS. My PCP is leaning twards hEDS or cEDS. However, I got my genetic panel back for conective tissues and the only thing that came back was a VUS on...

EDS Cognition Researcher

I have EDS hypermobile type along with a laundry list of other chronic illnesses. I'm 24 and currently trying to get my health to a better place so I can pursue my Master's degree. I'm...

My son is waiting for diagnosis of (most likely) Ehlers Danlos Syndrom.

Find me on Facebook, Twitter and Instagram @NadiaBodkin
stay at home disabled mom with eds (waiting for typing) , POTS Narcolepsy., PTSD, Panic disorder, and much more!
I have been diagnosed with EDS Type 3 but I have almost every symptom of Type 4 so my genetics team is stumped a bit although I took the COL1A test and it was negative he just does not feel those...
EDS, LUPUS??, MS??current testing shows both diagnosed with LUPUS at MAyo since leaving there last year after two small strokes called whns I have had a reversal of ana, almost three years of...
Dx: Ehlers-Danlos Syndrome (EDS), Hip dysplasia and Brain tumor in posterior fossa / 4th ventricle.
After raising 5 children now enjoying 2 grandchildren living life with multiple rare diseases has it's challenges however these diseases do not define me. Many days my body fails me but a I refuse...
Well hmm there is alot i could put here. I was just diagnoised with EDS hypermobility type. I also for the last 5 months (today is 7/16/14) have not been able to get my resting heart rate under...
Hey I'm InfernoFire and I have Ehlers Danlos Syndrome, suspected type 3 and 4. I found rareshare through stumble upon which is totally awesome. I hope to make some friends who also has EDS.

I am the mother of a wonderful 12 year old girl .She has systemic capillary leak syndrome. 3 severe episodes requiring hospitalization. Being treated with sub Q igg therapy. Hoping to connect with...

Im 29 years old & live in hertfordshire (north london) My drs kindly told me that i was unique because i dont just have 1 rare condition i have 2. when i was 20 i was diagnosed with fowlers...
I am a senior citizen (68). I was finally given a diagnosis for my years of chronic pain and fatigue. I have had 7 spinal surgeries with fusions over the years. I hope to find support and new...
My medical conditions: Dysautonomia-POTS, hypermobile joints, Sjogrens Syndrome, born with urinary bladder reflux

 

 

Mothers' medical conditions: AVM-brain, Myasthenia Gravis,...
I am a graduate student in my mid-thirties, working on a doctorate in psychology. After years of increasingly difficult back problems and widespread chronic pain, I was finally diagnosed this year...
I have had many joint problems r/t EDS.

 

As a kid I always knew I was very "double jointed."

 

My patellas would sublux while running across the yard and I would collapse only to stand up...
I am a 19 year old and I was diagnosed with MWS about a year and a half ago. I am interested in sharing.
I am a family physician and educator in medical ethics who also has EDS.
I am the proud mother of two boys. My eldest, Dylan, has classical autism; and my youngest, Lucas, has Waardenburg Syndrome Type IIb - we are still trying to get his hearing assessed to find out...
I am a 37 year old woman with Ehlers Danlos syndrome, classic type, also known as familial hyper mobility syndrome. It's all caused by a deficiency in the collagen in the body resulting in...
Mother of 3 with EDS type 3 and Chairman of the Board of Directors of Ehlers Danlos National Foundation
I just turned 50, have been married for almost 27 years and have three children: two sons, 22 & 19 and a daughter, 17.

 

 

I was diagnosed in 2000 with Hashimoto's Thyroiditis.

 

...


Start a Community


Don't See Your Condition On Rareshare?

Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.

FAQ


Have questions about rareshare?

Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.

Discussion Forum

2021 EDS Cognition study recruitment

Created by eds-cognition_greg | Last updated 30 May 2021, 06:36 PM

Hello!

Created by starscream | Last updated 8 Jun 2020, 06:06 PM

Hello my follow Zebras

Created by InfernoFire | Last updated 8 Aug 2014, 05:33 PM

For Doux

Created by kaycee | Last updated 19 Feb 2011, 05:15 PM

Hello

Created by kaycee | Last updated 29 Sep 2009, 02:21 AM


Communities

Our Communities

Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.

FIND YOUR COMMUNITY
Physicians

Our Resources

Our rare disease resources include e-books and podcasts

VIEW OUR EBOOKS

LISTEN TO OUR PODCASTS

VIEW OUR GUIDES

Leaders

Our Community Leaders

Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.