Arthrochalasis multiplex congenita


Arthrochalasis multiplex congenita


Ehlers-Danlos syndrome (EDS) is a collection of inherited conditions that fit into a larger group, known as heritable disorders of connective tissue.

Connective tissues provide support in skin, tendons, ligaments, blood vessels, internal organs and bones.

There are different types of EDS that may share some features, including:

joint hypermobility – increased range of movement of joints

stretchy skin

fragile skin tissue

The fragile skin and unstable joints found in EDS may be the result of faulty collagen.

Collagen is a protein in connective tissue that acts as a "glue" in the body, adding strength and elasticity. There are many different kinds, including collagens I, III and V. The type of EDS depends on which collagen is involved.

The different types of EDS are caused by alterations in certain genes that make collagen weaker. Sometimes the amount of collagen in the body is reduced. The faulty genes can be passed from parents to their child (inherited).

This information is for anyone who has been recently diagnosed with EDS, or for anyone whose child has the condition. It explains:

hypermobile joints

different types of EDS

living with EDS

managing pain

Hypermobile joints

People with EDS typically have loose joints, which means the limbs bend more than usual. This can cause floppy joints in infancy, and some affected children take longer to sit, stand and walk.

Different types of EDS

The four most common types of EDS include:

hypermobile EDS

classical EDS

vascular EDS

kyphoscoliotic EDS

There are also other, rarer, types of EDS, including dermatosparaxis and arthrochalasic. New genes have been found that explain other rare types of EDS.

Hypermobile EDS

Hypermobile EDS is the most common form. However, there is some debate over whether it is the same as joint hypermobility syndrome. Both conditions may be part of a group of several similar conditions.

There are no tests available to confirm the diagnosis or distinguish between hypermobile EDS and joint hypermobility syndrome. The diagnosis is made based on a physical examination and a person's medical history.

People with hypermobile EDS may have:

joint hypermobility – the joints have a wider range of movement than usual

loose, unstable joints that can lead to dislocations and subluxations (incomplete or partial dislocation of a joint)

joint pain and fatigue

joints that "click" and are easily bruised

gastrointestinal complications

symptoms that affect the autonomic nervous system (the nervous system that controls your automatic functions, such as breathing and urination) – this includes postural tachycardia syndrome, which causes fast heart rate, dizziness and fainting

mitral valve prolapse – a heart valve abnormality

uterine, rectal or bladder prolapse

urinary dysfunction

dental problems

low bone density (osteoporosis)

Classical EDS

Classical EDS (previously known as EDS types I and II) is a rare condition and many health professionals will not be familiar with the symptoms and how to treat it.

People with classical EDS may have:

joint hypermobility

loose, unstable joints that can lead to dislocations and subluxations (incomplete or partial dislocation of a joint)

stretchy (hyperextensible) skin

fragile skin that can split easily – especially over the forehead, knees, shins and elbows

smooth, velvety skin that bruises easily

wounds can be slow to heal and leave wide, papery scars

fragile and stretchy tissues can also result in hernias and prolapse

in rare cases, there may be problems with the veins and arteries

Vascular EDS

Vascular EDS is a rare type of EDS. The condition is sometimes associated with life-threatening complications, as the blood vessels and large bowel wall are prone to rupture, causing internal bleeding.

Women with vascular EDS who become pregnant may have an increased risk of vascular complications. There is an increased risk of womb rupture in later pregnancy.

People with vascular EDS may have:

skin that bruises very easily because of fragile tissues

thin skin with visible small blood vessels, particularly on the upper chest and legs 

fragile blood vessels – this can lead to major complications, such as blood vessels tearing (dissection) and arterial aneurysms (artery widening with a risk of rupture)

risk of damage to hollow organs, such as bowel perforation or uterine rupture (where the womb tears)

Occasionally there may be other features, including:

hypermobility of small joints (such as fingers and toes)

premature ageing of the skin on hands and feet

unusual facial features, such as a thin nose and lips, large eyes, small earlobes and fine hair

joint contractures (permanent shortening of a joint)

partial collapse of the lung (pneumothorax)

gum problems, such as bleeding or receding gums

varicose veins in early adult life

wounds may take longer to heal

Kyphoscoliotic EDS

People with kyphoscoliotic EDS may have:

curvature of the spine – this starts in early childhood and often gets worse in the teenage years

loose, unstable joints that frequently lead to dislocations

weak muscle tone from childhood – this may cause a delay in sitting and walking, or difficulty walking if symptoms progress

fragile eyeballs that can easily be damaged

unusual shape or size of the clear front part of the eye (cornea)

soft, velvety skin that is stretchy, bruises easily and scars

Living with EDS

Fatigue is common in most types of EDS. If you have been diagnosed with the condition, you may find you need to conserve your energy and pace your activities.

You should avoid heavy lifting, contact sports and keeping your joints in one position for lengthy periods.

Simple measures can help protect some of your joints and help reduce pain. Exercise is important to strengthen the muscles that support the joints and so help minimise joint dislocations. Swimming, pilates and exercises that strengthen core muscles are recommended.

For children with classical EDS, it may be helpful to pad or bandage your child's lower legs and elbows during activity and pad sharp corners on furniture. This may reduce the risk of skin injury, scarring and bruising. 

However, it is important that parents are not overprotective and allow their children to live their life as normally as possible.

It is especially important that people with vascular EDS avoid contact sports and activities that involve lifting very heavy weights, sudden changes of acceleration (sprinting), or weight training.

Strenuous household tasks involving lifting or pushing large or heavy objects should also be avoided.

It is recommended that those with vascular EDS wear a medical alert bracelet.



If you or your child are having problems with pain and movement, you can ask your GP to refer you to a physiotherapist with an understanding of hypermobility.

If necessary, your GP can refer you to an occupational therapist to help you manage daily activities and give advice on equipment that may help you.

Counselling and cognitive behavioural therapy (CBT) may be useful in helping you to cope with long-term pain. Your GP should be able to advise about local counselling services. Patient support groups such as EDS Support UK can also be helpful.

If you want to find out more about the cause of the condition and the chance of other family members also having EDS, you can ask your GP to refer you to your local genetics service. Genetic counselling, where you can discuss the chance of passing the condition on to future children, is available.

A specialist EDS diagnostic service was set up in 2009 for patients in England and Scotland. This service is for complex EDS, where the diagnosis of the specific form of EDS requires further investigations.

Hospital consultants can refer you to this service, but not GPs. The clinics are held in Sheffield and London. Individuals in Northern Ireland or Wales require separate funding from their health authority.

Managing pain

For advice about persistent pain, you can speak to your GP, who may refer you to a rheumatologist or pain specialist. Read more information about living with pain.

The EDS Support UK website also offers advice about overcoming sexual difficulties associated with pain.