Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

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Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious generalized osteoarthritis (with onset as early as childhood) and mild dysplastic spinal changes (flattening of vertebrae irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.

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 March 2024

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