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.

Also known as: Namaqualand hip dysplasia, OSCDP, osteoarthritis with mild chondrodysplasia

1 clinical trial for this condition and its sub-types, 0 tagged with Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis itself.