Mild Spondyloepiphyseal Dysplasia Due To Col2a1 Mutation With Early-Onset Osteoarthritis

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

COL2A1, TYROBP

Drugs

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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.