Achondroplasia is a genetic disorder that causes short-limb dwarfism due to cartilage tissue not developing in the bones of arms and legs. Learn about the symptoms, diagnosis, treatment and outlook of this condition from Cleveland Clinic, a non-profit academic medical center. Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size (macrocephaly), small fingers, and normal intelligence. Achondroplasia can cause health complications such as interruption of breathing (apnea), obesity, recurrent ear infections, an exaggerated inward curve of the lumbar spine (lordosis). More serious problems ... Learn about achondroplasia, a genetic disorder that causes birth defects and results in abnormally short stature. Discover facts about testing, symptoms, diagnosis, and treatment for achondroplasia. 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]
