Spondyloepimetaphyseal dysplasia, Missouri type

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Spondyloepimetaphyseal dysplasia, Missouri type

Synonyms: SEMD type 2 | SEMD, Missouri type | Spondyloepimetaphyseal dysplasia type 2

Spondyloepimetaphyseal dysplasia Missouri type is 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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