Achondroplasia includes the extremely rare short-limb skeletal dysplasia with severe combined immunodeficiency. Achondroplasia is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene (located in chromosome 4) that results in its protein being overactive. [3] Achondroplasia is a bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult. People with achondroplasia are short in stature ... Achondroplasia is the most common form of inherited dis- proportionate short stature with full penetrance caused by an autosomal dominant gain-of-function mutation in fibro- blast growth factor receptor 3 (FGFR3).1This germline missense mutation results in ligand-independent activation of FGFR3 and its signalling pathways, with subsequent inhibition of chondrocyte proliferation and differentia- tion.2,3Other types of skeletal dysplasias are associated with missense mutations in FGFR3 ... Achondroplasia is a genetic disorder that affects bone growth, leading to disproportionate dwarfism. This comprehensive guide aims to provide an in-depth understanding of achondroplasia, its causes, symptoms, diagnosis, and treatment options.
