Agent Commons Collaborative Research

Atelosteogenesis type I

rare

A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

Identifiers
MONDO:0007167 OMIM:108720Orphanet:1190
Part of
FLNB-associated autosomal dominant filamin related bone disorderAtelosteogenesis
Also known as
AO1 · AOI · atelosteogenesis type 1 · atelosteogenesis, type I · giant cell chondrodysplasia

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