spondyloepiphyseal dysplasia congenital type (SEDC)

Pathology

• congenital chondrodysplasia

Genetics

• associated with defects in COL2A1

Clinical manifestations

• disproportionate short stature
• pleiotropic involvement of the skeletal & ocular systems

More general terms

• spondyloepiphyseal dysplasia

Database

• OMIM: https://mirror.omim.org/entry/183900