Boomerang dysplasia
ORPHA:1263· ICD-10 Q87.1
Definition
Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal