Table 3a.

COL2A1 Allelic Disorders to Consider in the Differential Diagnosis of Spondylometaphyseal Dysplasia, Corner Fracture Type (SMDCF)

Allelic DisorderFeatures of Allelic Disorder
Overlapping w/SMDCFNot Observed in SMDCF
Spondyloepimetaphyseal dysplasia, Strudwick type
  • Odontoid hypoplasia
  • Myopia
  • Pectus carinatum
  • Platyspondyly
  • Scoliosis
  • Short trunk
  • Metaphyseal irregularity: corner fracture-like lesions
  • Coxa vara
  • Genu valgum
  • Cleft palate
  • Splayed ribs
  • Epiphyseal delay
Kniest dysplasia
  • Myopia
  • Platyspondyly
  • Short trunk
  • Coxa vara
  • Cataracts
  • Retinal detachment
  • Cleft palate
  • Conductive hearing loss
  • Delayed epiphyseal ossification
  • Abnormal epiphyses
Spondyloperipheral dysplasia
  • Pectus carinatum
  • Platyspondyly
  • Short stature
  • Sensorineural hearing loss
  • Absent styloid processes
  • Hand & foot abnormalities
  • Short ulna
Spondyloepiphyseal dysplasia congenita
  • Myopia
  • Odontoid hypoplasia
  • Pectus carinatum
  • Ovoid vertebral bodies
  • Platyspondyly
  • Scoliosis
  • Short trunk
  • Coxa vara
  • Retinal detachment
  • Vitreoretinal degeneration
  • Cleft palate
  • Cervical myelopathy
  • Hypotonia
  • Flattened epiphyses
  • Talipes equinovarus
Spondyloepiphyseal dysplasia w/metatarsal shortening (Czech dysplasia)
  • Platyspondyly
  • Scoliosis
  • Coxa vara
  • Normal stature
  • Short metacarpals
  • Hypoplastic/dysplastic toes & metatarsals

From: Spondylometaphyseal Dysplasia, Corner Fracture Type

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