In many studies, multiple ACAN gene variants have been identified to cause isolated short stature.6, 8 The first identified family with SEDK followed an autosomal dominant inheritance caused by (c.3986dupC; Gly1330Trpfs*221) in ACAN gene.11 The gene discussed is ACAN; the disease is spondyloepiphyseal dysplasia, Kimberley type.