Boomerang dysplasia

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.

Disease data

Classification

Disease

ORPHA code

1263

OMIM code

112310

ICD10 code

Q87.1

ICD11 code

LD24.E

*Soruce