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What is Kniest Dysplasia?

  • A form of dwarfism
  • Affects bone growth
  • Average height of an adult is 42 inches to 58 inches
  • Exact incidence unknown
  • Mutation in the COL2A1 gene

Diagnosis of Kniest Dysplasia

  • Before birth by: 
    • Ultrasound scanning 
    • Testing methods e.g. Chronic villus sampling and DNA linkage studies or amniocentesis. 
  • After birth by:
    • Observation of common physical characteristics
    • X-rays

What are common characteristics of Kniest Dysplasia?

  • Short stature
  • Short trunk
  • Shortened arms and legs
  • Large joints 
  • Progressive abnormal curvature of the spine (kyphoscoliosis and lordosis) (differing severity)
  • Flattened vertebrae (platyspondyly) (differing severity)
  • Foot deformity (clubfoot) (differing severity)
  • Arthritis and decreased joint mobility (differing severity)
  • Mild changes in facial features (differing severity)
  • Cleft palate (differing severity)
  • Severe nearsightedness (myopia) (differing severity)
  • Hearing loss (differing severity)

*Please be aware, not all of the characteristics may be present*

Other information about Kniest Dysplasia

  • Life expectancy is not affected
  • Intelligence is not affected
  • Affects boys and girls equally

Genetics of Kniest Dysplasia

  • If there is no history of Kniest Dysplasia in the family, Kniest Dysplasia can be passed on by one parent (dominant) as the result of a mutation

Dwarfism Genetics Kneist mutation dominant

Additional reading about Kniest Dysplasia

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