spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism

A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia.

Also known as: SMD with bowed forearms and facial dysmorphism; spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome