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.
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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.
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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.
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For more information see The Ehlers-Danlos Society
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References
The 2017 International Classification of the Ehlers–Danlos Syndromes