Campomelic dysplasia is a severe and rare form of congenital short-limbed dwarfism characterized by skeletal anomalies including angular bowing and shortening of the limbs, hypoplastic scapulae, lack of mineralization of thoracic pedicles, pelvic malformations and bilateral clubfeet. Malformations such as micrognathia, retroglossia, cleft palate, narrow airways caused by tracheobronchial cartilage defects, hypoplastic lungs, and a bell-shaped thorax are usually present and are the major cause of the severe respiratory problems that arise soon after birth, leading to death mostly during the neonatal period. Another characteristic feature of campomelic dysplasia is the sex reversal and varying degree of gonadal dysgenesis that has also been observed in two-thirds of affected males. Like sex reversal and other skeletal symptoms, the eponymous feature of campomelia – bending of the long bones – is not an obligatory feature and is absent in about 10% of campomelic dysplasia patients, referred to as acampomelic campomelic dysplasia.

Campomelic dysplasia is caused due to heterozygous mutations in the SOX9 gene. SOX9 gene encodes transcription factors SOX-9, which is involved in chondrocytes differentiation and skeletal development. It also regulates transcription of the anti-Muellerian hormone (AMH) gene, thereby, playing an important role in sexual differentiation.