Dysspondyloenchondromatosis
ORPHA:85198· ICD-10 Q78.4
Definition
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal