Classical-like EDS (clEDS)

Please note: The following text cannot and should not replace advice from the patient's healthcare professional(s). Any person who experiences symptoms or feels that something may be wrong should seek individual, professional help for evaluation and/or treatment. This information is for guidance only and is not intended to provide individual medical advice.

What is clEDS?

clEDS is an incredibly rare type of EDS which causes skin hyperextensibility, easy bruising as well as skin/spontaneous ecchymoses and generalised joint hypermobility.

What is the cause of clEDS?

clEDS is caused by variations in a person’s genes. clEDS is caused by variations in gene TNXB.

How is clEDS diagnosed?

When diagnosing clEDS a list of common and relevant signs and symptoms of the condition are used. This is referred to as diagnostic criteria and in the case of cvEDS it is split into a set of major and minor criteria.

The Major criteria

1. Skin hyperextensibility, with velvety skin texture and absence of atrophic scarring
2. Generalised joint hypermobility with or without recurrent dislocations (most commonly shoulder and ankle)
3. Easy bruisable skin/spontaneous ecchymoses

The Minor criteria

1. Foot deformities: broad/plump forefoot, brachydactyly with excessive skin; pes planus; hallux valgus; piezogenic papules
2. Edema in the legs in absence of cardiac failure
3. Mild proximal and distal muscle weakness
4. Axonal polyneuropathy
5. Atrophy of muscles in hands and feet
6. Acrogeric hands, mallet finger(s), clinodactyly, brachydactyly
7. Vaginal/uterus/rectal prolapse

To meet the diagnostic criteria for clEDS a person must have:

All three major criteria AND a family history compatible with autosomal recessive transmission.

If a person meets the criteria a genetic test is done to confirm the diagnosis. You can read more about genetic testing for the rare types of EDS here.

How is clEDS managed?

clEDS is managed through addressing the symptoms a person is experiencing. This is best done through being in the care of the NHS National EDS service; a specialised service for adults and children who have or are suspected to have a rare type of EDS.

For information about the service and for referral eligibility please click on the following links:

EDS National Diagnostic Service (based in London) covering the South of England

EDS National Diagnostic Service (based in Sheffield) covering the North of England