Kniest dysplasia

Kniest dysplasia is rare type of short limbed skeletal dysplasia.

It is thought to carry an autosomal dominant inheritance. Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen (therefore classified as a type II collegenopathy).

Described features include

  • unossified epiphyses 
  • absent ossification of the pubic bones
  • delayed ossification of the femoral heads
  • flatted ovoid vertebral bodies +/- coronal clefts
  • dumb-bell shaped femurs
  • short limbs: micromelia
  • exaggerated metaphyseal flaring
  • enlargement of the epiphysis with cloud-like calcifications at the physis
  • metacarpal epiphyseal flattening 
  • enlargement of the metacarpal and proximal phalangeal ends

It is named after Wilhelm Kniest, a German paediatrician who first described the condition in 1952 4,8.

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Article information

rID: 15842
Tags: cases, cases
Synonyms or Alternate Spellings:
  • Kniest's dysplasia

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Cases and figures

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    Case 1: calvarium
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