Atelosteogenesis type I

MONDO:0007167

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

Also known as: AO1, AOI, atelosteogenesis type 1, giant cell chondrodysplasia, spondylo-humero-femoral dysplasia, atelosteogenesis, type I

0 clinical trials for this condition and its sub-types.

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Broader categories

Disease (717) Musculoskeletal system disorder (214) Hereditary disease (188) Bone disorder (51) Human disease (15) Osteochondrodysplasia (12) Skeletal system disorder (4) Bone development disease (2) Disease of genetic or genomic mechanism (2) Skeletal dysplasia (1)

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