/mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

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

Rare Disease

MONDO:0011496

Also Known As

Namaqualand hip dysplasiaOSCDPosteoarthritis with mild chondrodysplasia

Definition

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.