Spondyloepimetaphyseal dysplasia, matrilin-3 type

The Borochowitz-Cormier-Daire type of spondyloepimetaphyseal dysplasia (SEMDBCD) is a rare type of autosomal recessive short-limb short-trunk dwarfism. Affected individuals have significant short stature with pronounced leg bowing, lumbar lordosis, and a waddling gait (summary by Borochowitz et al., 2004 and Shyamasundar et al., 2020).

OMIM