Introduction Stuve-Wiedemann Syndrome (SWS) is a rare genetic condition with autosomic recessive inheritance, characterized by a combination of skeletal changes, (bowing of the lower limb, severe osteoporosis and joint contractures) and dysautonomic disturbances (episodic hyperthermia, frequent respiratory infections, feeding problems), therefore the disease is classified in both groups of skeletal dysplasias (subgroup of bent-bone dysplasias) and ciliary neurotrophic factor (CNTF) pathway related disorders.