Achondroplasia PatientPlus

Description: Achondroplasia is the most frequent form of short-limb dwarfism. As well as short stature due to shortening of limbs, affected individuals have characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension and genu varum and trident hands. Incidence increases with paternal age. Achondroplasia is caused by constitutively activated point-mutated fibroblast growth factor receptor 3 (located at 4p16.3) - epiphyseal growth cartilage fails but with normal bone formation and repair.