Campomelic syndrome is a rare form of Skeletal dysplasia characterized by bowing and an angular shape of the long bones of the legs. Eleven sets of ribs instead of the usual twelve may be present. The pelvis and shoulder blade may be underdeveloped. The skull may be large, long and narrow. The face may appear flat with forward tilting nostrils, high forehead, small chin, and cleft palate. Babies may regurgitate formula through the nose, are susceptible to middle ear infections and frequently experience respiratory distress.
Respiratory distress due to an underdeveloped ribcage is the most serious symptom of campomelic syndrome. The lungs may not have sufficient space to grow properly due to the underdeveloped ribcage.
Other symptoms that may occur in some patients with campomelic syndrome are dislocated hips, clubfoot, underdeveloped lungs, abnormal cervical and thoracic vertebrae,and heart and kidney abnormalities.
Some individuals with campomelic syndrome have sex reversal in which they are chromosomally male but have female genitalia and reproductive system.