epiphyseal dysplasia, multiple, type 4

epiphyseal dysplasia, multiple, type 4

An autosomal recessive condition (OMIM:226900) characterised by early childhood onset of hip dysplasia, generalised skeletal dysplasia (joint pain, joint deformity), waddling gait and recurrent patella dislocation. It is broadly divided into more severe Fairbank and milder Ribbing types. 

Molecular pathology
Caused by defects of SLC26A2, which encodes a sulfate transporter critical for cartilage formation, and which may play a role in enchondral bone formation.