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From SNPedia

There are various types of chondrodysplasias, which affect growth of bone and cartilage.

  • Achondroplasia is a relatively common cause of dwarfism, occurring in perhaps 1 in every 25,000 births. Most cases are due to a new mutation in the fibroblast growth factor receptor 3 gene FGFR3. Unlike some forms of dwarfism, achondroplastic dwarfism is not curable with growth hormone.
  • Jeune syndrome is an extremely rare but severe recessive disorder that causes death in infancy or early childhood. It is also known as asphyxiating thoracic dystrophy. Jeune syndrome is a ciliopathy caused by mutations in the IFT80 gene.