clEDS is a genetic connective tissue disorder that causes severe skin hyperextensibility, velvety skin texture, generalized joint hypermobility, and easy bruising.
Classical-Like Ehlers-Danlos Syndrome (clEDS)
clEDS is an ultra-rare disorder that affects less than 1 in 1 million people.
clEDS is caused by differences in the genes called genetic variants. These genetic variants affect the connective tissue, which provides support, protection, and structure throughout the body.
clEDS is caused by genetic variants of the TNXB gene.
clEDS is inherited in an autosomal recessive pattern. This means if a person inherits the genetic variant from both of their parents, they will have clEDS. People with one copy of the genetic variant are carriers of clEDS. Carriers do not have clEDS themselves, but some carriers of clEDS do have joint hypermobility, joint instability, and chronic pain. Carriers of clEDS may pass the genetic variant on to their children.
clEDS may be suspected if a person has:
- Soft, stretchy skin without atrophic scarring
- Generalized joint hypermobility
- Joint instability
- Easy bruising
People with clEDS may also have:
- Foot abnormalities
- Pain
- Fatigue
- Muscle weakness
- Vascular fragility
- Edema in the legs in the absence of heart failure
- Vaginal, uterus, or rectal prolapse
What is skin hyperextensibility?
Skin hyperextensibility means that the skin can be stretched beyond the normal range. When released, hyperextensible skin returns to shape straight away. Skin extensibility is measured by pinching and lifting the skin on the volar (same side as the palm of the hand) surface at the middle of the non-dominant forearm. Skin is hyperextensible if it stretches greater than 1.5 cm. Skin hyperextensibility > 2 cm is usually present in people with clEDS.
If a person meets the diagnostic criteria for clEDS, genetic testing should be done to confirm the diagnosis. Genetic testing is used to see if a person has the genetic variants that cause clEDS.
To meet the diagnostic criteria for clEDS, a person must meet all three major criteria AND have a family history compatible with autosomal recessive inheritance.
Major Criteria
- Skin hyperextensibility, with velvety skin texture and absence of atrophic scarring
- Generalized joint hypermobility, with or without recurrent dislocations (most commonly shoulder and ankle)
- Easy bruisable skin/spontaneous ecchymoses
Minor Criteria
- Foot deformities (broad/plump forefoot; brachydactyly with excessive skin; pes planus; hallux valgus; piezogenic papules)
- Edema in the legs in absence of cardiac failure
- Mild proximal and distal muscle weakness
- Axonal polyneuropathy
- Atrophy of muscles in hands and feet
- Acrogeric hands, mallet finger(s), clinodactyly, brachydactyly
- Vaginal/uterus/rectal prolapse
clEDS is managed by addressing the symptoms a person is experiencing. clEDS can cause a variety of symptoms in many different areas of the body, so people with clEDS may require multiple providers in different specialties to manage their care. Key aspects of care focus on the skin and joints. Each person should work with their care team to develop a care plan that meets their individual needs.
