Campomelic dysplasia (CMPD, is an autosomal dominant skeletal dysplasia characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. CMPD is often lethal in the first year of life, due to respiratory insufficiency related to small chest size and tracheobronchial hypoplasia (summary by Matsushita et al., 2013).

SOX9 mutations causing campomelic dysplasia have also been associated with 46,XY sex reversal, with marked variability in the degree of gonadal dysgenesis among patients carrying the same mutation (Cameron and Sinclair, 1997).