IDDSFAS is an extremely rare autosomal recessive disorder characterized by severe intellectual deficiency, facial dysmorphism, short stature and speec defects. The dysmorphic features include a bulbuos nose, and microretrognathia.
Causal mutations in the FBXL3 gene are known to result in this condition.
Megarbane and Cormier-Daire (2001) were the first to describe this condition. They reported two sisters born to healthy consanguineous Lebanese parents. The girls had severe intellectual deficit, and multiple congenital anomalies, including short stature, joint hyperlaxity and dislocation, and obesity.