Table 1.
Criteria of kEDS from 2017 International EDS Classification and clinical manifestations of the patient
| Criteria | Patient |
|---|---|
| Major criteria | |
| Congenital muscle hypotonia | + |
| Congenital or early onset kyphoscoliosis (progressive or nonprogressive) | + |
| Generalized joint hypermobility with dislocations/subluxations (shoulders, hips, and knees in particular) | + |
| Minor criteria | |
| Skin hyperextensibility | + |
| Easy bruisable skin | + |
| Rupture/aneurysm of a medium-sized artery | - |
| Osteopenia/osteoporosis | + |
| Blue sclerae | + |
| Hernia (umbilical or inguinal) | + |
| Pectus deformity | - |
| Marfanoid habitus | - |
| Talipes equinovarus | - |
| Refractive errors (myopia, hypermetropia) | + |
| Gene-specific minor criteria | |
| PLOD1 | |
| Skin fragility (easy bruising, friable skin, poor wound healing, widened atrophic scarring) | + |
| Scleral and ocular fragility/rupture | + |
| Microcornea | - |
| Facial dysmorphology | + |
| FKBP14 | |
| Congenital hearing impairment (sensorineural, conductive, or mixed) | - |
| Follicular hyperkeratosis | - |
| Muscle atrophy | - |
| Bladder diverticula | - |
kEDS: Kyphoscoliotic Ehlers-Danlos syndrome; PLOD1: procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1; FKBP14: FK506 binding protein 14
Minimal criteria suggestive for kEDS: major criterion (1): congenital muscle hypotonia and major criterion (2): congenital or early-onset kyphoscoliosis plus either major criterion (3): GJH and/or three minor criteria (either general or gene-specific criteria)