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 a genetic disorder that affects bone growth and causes short stature, large head, and specific facial features. Learn about the FGFR3 gene mutation, the diagnosis methods, and the possible complications and treatments of 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] 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.
