Kyphoscoliotic Ehlers-Danlos
Kyphoscoliotic Ehlers-Danlos (kEDS) formally know as EDSVI it is inherited by either biallelic mutations in PLOD1 or biallelic mutations in FKBP14. Laboratory confirmation through urine test using high-performance liquid chromatography.
Minimal criteria to suggest kEDS are 1 and 2 of the major criteria - plus either: major criteria 3, or three minor criteria.
Molecular testing is required to confirm a diagnosis.
kEDS is often accompanied by fragility in the sclera and other issues with the eyes. It can be evident from birth with severe hypotonia and progressive scoliosis.
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Major Criteria:
1. Congenital muscle hypotonia;
2. Congenital or early-onset kyphoscoliosis (progressive or non-progressive);
3. Generalised joint hypermobility with dislocations/subluxations (shoulders, hips, and knees in particular).
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Minor Criteria:
1. Skin hyperextensibility;
2.d Easy bruisable skin;
3. Rupture/aneurysm of a medium-sized artery;
4. Osteopenia/osteoporosis;
5. Blue sclerae;
6. Hernia (umbilical or inguinal);
7. Pectus deformity;
8. Marfanoid habitus;
9. Talipes equinovarus;
10. Refractive errors (myopia, hypermetropia)
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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
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