Updated: 10/11/2016

Kniest's Dysplasia

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Introduction
  • Form of disproportionate short-trunk dwarfism
    • a Type II collagenopathy
  • Genetics
    • autosomal dominant
    • defect in COL2A1 (missense, splice or deletion)
    • defect leads to abnormal Type II collagen, chondrocyte degeneration, cytoplasmic inclusions
  • Associated conditions
    • orthopaedic manifestations
      • short stature
      • disproportionate short-trunk dwarfism
      • joint stiffness / contractures
      • dumbell-shaped femora
      • hypoplastic pelvis and spine
      • scoliosis & kyphosis
      • early osteoarthritis
    • medical conditions
      • respiratory problems
      • cleft palate
      • retinal detachment and myopia
      • otitis media with hearing loss
Presentation
  • Physical exam
    • disproportionate short-trunk dwarfism
    • joints enlarged and stiff
    • scoliosis & kyphosis
    • cleft lip 
    • round face with central depression
    • prominent eyes
    • bell-shaped chest
Imaging
  • Radiographs  
    • osteopenia
    • dumbbell-shaped metaphyseal bone 
    • coxa vara
    • genu valgum
Treatment
  • Myopia
    • ophthalmologic consultation
  • Joint contractures
    • early physical therapy
  • Hip degenerative arthritis
    • joint reconstruction
 

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