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Table 1 Criteria of kEDS from 2017 International EDS Classification and clinical manifestations of the patient

From: The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation

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 -
  1. kEDS: Kyphoscoliotic Ehlers-Danlos syndrome; PLOD1: procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1; FKBP14: FK506 binding protein 14
  2. 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)