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. 

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).  

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)

For more information see The Ehlers-Danlos Society

References

The 2017 International Classification of the Ehlers–Danlos Syndromes