Classical-like Ehlers-Danlos

Classical-Like Ehlers-Danlos (clEDS) is inherited by autosomal recessive caused by a complete lack of Tenascin XB (TNX) due to diallelic TNXB mutation, that lead to nonsense-mediated mRNA decay, or diallelic deletion of TNXB. As a result, the TNX protein is completely absent. 

 

Minimal criteria to suggest a clEDS diagnosis are all three major criteria, AND a family history compatible with autosomal recessive transmission.

Molecular testing is required to confirm a diagnosis.

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. 

Minor Criteria:

1. Foot deformities: broad/plump forefoot, brachydactyly with excessive skin: pes planus: hallux valgus: piezogenic papules;

2. Edema in the legs in the absence of cardiac failure;

3. Mild proximal and distal musical weakness;

4. Axonal polyneuropathy;

5. Atrophy of muscles in hands and feet;

6. Acrogeric hands, mallet finger(s), clinodactyly, brachydactylyl;

7. Vaginal/uterus/rectal prolapse.

For more information see The Ehlers-Danlos Society

References

The 2017 International Classification of the Ehlers–Danlos Syndromes