Osteoporosis-pseudoglioma syndrome
ORPHA:2788· ICD-10 Q87.5
Definition
A rare bone disease characterized by congenital or infancy-onset blindness and juvenile-onset osteoporosis with spontaneous and low trauma fractures.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood