spondyloepiphyseal dysplasia type Kimberley (SEDK)

Pathology

• congenital chondrodysplasia that specifically affects epiphyses & vertebra

Genetics

• autosomal dominant
• associated with defects in aggregan (ACAN)

Clinical manifestations

• premature degenerative arthropathy (osteoarthritis)

More general terms

• spondyloepiphyseal dysplasia

Database

• OMIM: https://mirror.omim.org/entry/608361