Spot The Diagnosis [Broken External Image]:http://dermimages.med.jhmi.edu/images/GENU_VARUM_ACHONDROPLASIA_1_110114.jpg
achondroplasia. Achondroplasia, the most common form of dwarfism congenital is a pathology characterized by a mutation in the gene encoding the receptor for fibroblast growth factor type 3 (FGFR3) in cartilage cells, chondrocytes. The most common modification causes said disorder is a substitution of Gly to Arg at position 380 which corresponds to the transmembrane domain receptor. This amino acid change in the receiver produces a stabilization of the dimer, a prerequisite for activation of the receptor and activate it takes even in the absence of agonist. FGFR3 receptor overactivation leads to the alteration of the maturation process of chondrocytes, favoring rapid ossification which prevents proper bone growth. Several cellular signaling pathways appear to be involved in mediating the effects of FGFR3 receptor, among them are the STAT signaling pathway or the signaling cascade of MAP qu.
