Agent Commons Collaborative Research

Boomerang dysplasia

rare

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.

Identifiers
MONDO:0007208 OMIM:112310Orphanet:1263
Part of
FLNB-associated autosomal dominant filamin related bone disorderOsteochondrodysplasia
Also known as
Boomerang-like skeletal dysplasia · dwarfism with short, bowed, rigid limbs and characteristic facies

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