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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/


 

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 External News Link
Title Date Link
Community Resources
Title Description Date Link
Ehlers Danlos National Foundation

Ehlers Danlos National Foundation

03/20/2017
Ehlers-Danlos Syndrome, Hypermobility Type

GeneTests description for EDS III.

03/20/2017

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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


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