EDM4

EDM4

Abbreviation for:
epiphyseal dysplasia, multiple 4
References in periodicals archive ?
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 ).
The classification of DTD, AO-II, or EDM4, and thus of the severity of the disease, depends on residual sulfate uptake capacity and the extent of proteoglycan undersulfation (114).
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).