Osteoarthritis with mild chondrodysplasia

Spondyloepiphyseal dysplasia congenita; Spondyloepimetaphyseal dysplasia, Strudwick type; Osteoarthritis with mild chondrodysplasia

Spondyloepiphyseal dysplasia congenita (SEDc; MIM 183900), Spondyloepimetaphyseal dysplasia Strudwick (SEMD Strudwick; MIM 184250) and osteoarthritis with mild chondrodysplasia (MIM 604864) are disorders traced to defects in COL2A1. SEDc is a variable disorder but is evident at birth. Individuals have short trunks, and necks. Limbs are proximally foreshortened and barrel chest is present. The spine is involved. Myopia and retinal detachment may occur. SEMD Strudwick is indistinguishable from SEDc at birth. More pronounced metaphyseal involvement is evident by childhood. Individuals with osteoarthritis with mild chondrodysplasia have normal or near normal height with early onset osteoarthritis and mild epiphyseal dysplasia and spinal involvement.