Spondylometaphyseal dysplasia, A4 type

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Spondylometaphyseal dysplasia, A4 type

Spondylometaphyseal dysplasia A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature severe femoral neck deformity marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.

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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Spondylometaphyseal dysplasia, A4 type?

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