Multiple epiphyseal dysplasia (MED; EDM1, OMIM 132400; EDM2, OMIM 600204; EDM3, OMIM 600969; EDM4
, OMIM 226900; EDM5, OMIM 607078; EDM6, OMIM 614135) is an autosomal dominant inherited disease of the skeletal system, characterized by mild short stature and early-onset degenerative joint disease, caused by heterogeneous genotypes involving more than six genes ( COMP , COL9A1 , COL9A2 , COL9A3 , MATN3 , DTDST ).[sup] However, in approximately 10–20% of all samples analyzed, a mutation cannot be identified in any of the six genes mentioned above, suggesting that the presence of other unidentified causative genes is also involved in the pathogenesis of MED.[sup]
Mutations in the DTDST gene are the cause of diastrophic dysplasia (DTD), achondrogenesis type 1B (ACGB1), atelosteogenesis type II (AO-II), and multiple epiphyseal dysplasia 4 (EDM4).
EDM4. Patients with EDM4 have a condition with clubfoot, scoliosis, mild finger deformity, and mildly short or normal stature, but without palatal clefting, ear swelling, or thumb deviation (119).