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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)