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.
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).
1. Skin hyperextensibility;
2.d Easy bruisable skin;
3. Rupture/aneurysm of a medium-sized artery;
5. Blue sclerae;
6. Hernia (umbilical or inguinal);
7. Pectus deformity;
8. Marfanoid habitus;
9. Talipes equinovarus;
10. Refractive errors (myopia, hypermetropia)
For more information see The Ehlers-Danlos Society