Kyphomelic dysplasia (KMD) is a rare heterogenous group of skeletal dysplasia, characterized by bowing of the limbs primarily affecting the femora, along with short stature, short and wide iliac wings, metaphyseal flaring, and distinctive facial features. It has been reported that mutations in CCN2 cause an autosomal recessive kyphomelic dysplasia. CCN2 encodes a protein involved in proliferation and differentiation of chondrocytes.
