Ehlers-Danlos Syndrome

Also known as

  • EDS

This is a disorder of collagen, the most abundant protein in the human body. There are several different forms of it which vary in severity.

Condition details

The symptoms include, but are not limited to: pain, frequent joint dislocations, stretchy skin bowel problems, wound healing problems and the more serious vascular problems where blood vessels and organs are highly prone to damage and rupture. There is no cure for this syndrome and treatment is just supportive. It is also frequently misdiagnosed in childhood and can be mistaken for child abuse because of the injuries sustained which is extremely upsetting for all involved.

I would like to edit or add detail to this database entry

Photos of affected individuals

Click images to enlarge.

  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Does not manifest in Baby
  • Does not manifest in Toddler
  • Can manifest in Child 4-10
  • Can manifest in Child 10-18
  • Can manifest in Adult

Symptoms

Child 4-10
Lay terms Clinical terms
  • Joints have unusual range of movement joint pain
  • frequent/easily injured - especially broken bones or dislocations.
  • Hypermobility
Child 10-18
Lay terms Clinical terms
  • Joints have unusual range of movement joint pain
  • frequent/easily injured - especially broken bones or dislocations
  • diarrhoea
  • constipation
  • bloody stools
  • Hypermobility
  • bowel problems - IBS
Adult
Lay terms Clinical terms
  • Joints have unusual range of movement joint pain
  • frequent/easily injured - especially broken bones or dislocations
  • constipation
  • diarrhoea
  • bloody stool joint wear valvular heart disease
  • body's inability to adjust to gravity
  • Hypermobility bowel problems such as IBS osteoarthritis Postural Tachychardia Syndrome

Affected genes identified to date

  • COL3A1
  • TNXB
  • COL5A1
  • COL5A2
  • COL1A1
  • PLOD1
  • COL1A2
  • ADAMTS2

Inheritance patterns

Is Autosomal recessive Is Autosomal dominant

Are carriers affected?

Unknown.

How many are affected?

Support groups and organisations

EDS UK
PO Box 748
Borehamwood
Hertfordshire
WD6 9HU
UK
Tel 0208 736 5604
Facebook
HMSA
22 Lincoln Green
Alton
Hampshire
GU34 1SX
UK
Tel 01420 89661
Facebook

Known experts

Field of interest
Tel
Facebook
I would like to edit or add detail to this database entry

Please let us know more about you

In order to allow you to edit this form, please fill in the fields below and click submit to proceed to to the editing page.

used only if we have questions about your entry.

Share this page

Welcome to the GDUK network

If this is the first time you have searched for information on a particular condition, details you find here may be distressing.

» If you would rather read our Newly Diagnosed section for parents and carers first click here