Spondyloepimetaphyseal dysplasia, Missouri type

MONDO:0011198

A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.

Also known as: SEMD type 2, SEMD, Missouri type, spondyloepimetaphyseal dysplasia type 2, spondyloepimetaphyseal dysplasia, Missouri type, Missouri type of spondyloepimetaphyseal dysplasia, SEMD Missouri type, metaphyseal anadysplasia 1, spondyloepimetaphyseal dysplasia Missouri type

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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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