Dysosteosclerosis
ORPHA:1782· ICD-10 Q78.8
Definition
A rare genetic primary bone dysplasia disease characterized by progressive osteosclerosis and platyspondyly.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal