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Updated: Jun 17 2021

Kniest Dysplasia

  • summary
    • Kniest's Dysplasia is a rare congenital disorder caused by a defect in the COL2A1 gene leading to abnormal Type II collagen. Patients present with a form of disproportionate short-trunk dwarfism with characteristic features such as ocular abnormalities, cleft palate, and hearing loss. 
    • Diagnosis is made based on family history associated with typical radiographic and clinical features. No commercially available diagnostic test exists due to the variety of genetic mutations.
    • Treatment involves a multidisciplinary approach to address orthopedic manifestations, fascial abnormalities, and ocular abnormalities.
  • Etiology
    • 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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