Tag: FGFR3 gene

  • Achondroplasia

    Achondroplasia Definition and Description of Achondroplasia Achondroplasia is a genetic disorder characterized by an abnormality in bone growth, leading to dwarfism. It is one of the most common forms of skeletal dysplasia and is caused by mutations in the FGFR3 gene (fibroblast growth factor receptor 3). This condition typically results in disproportionate short stature, with…

  • Achondroplastic Dwarfism

    Achondroplastic Dwarfism Definition and Description of Achondroplastic Dwarfism Achondroplastic Dwarfism is a genetic disorder characterized by an abnormality in the development of cartilage, particularly affecting the long bones of the body. It results in disproportionate dwarfism, where individuals typically have a normal-sized torso but shorter limbs. This condition is caused by a mutation in the…