What is Dysspondyloenchondromatosis?

Dysspondyloenchondromatosis is a rare skeletal dysplasia characterized by anisospondyly and multiple enchondromas in vertebrae and the metaphyseal and diaphyseal parts of long tubular bones, leading to kyphoscoliosis and lower limb asymmetry.

Inheritance type

Autosomal dominant, Not applicable


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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