Achondroplasia (Ach) is the most common form of dwarfism in humans. It occurs with a frequency of 1 in 15–25,000 and 80% of cases are sporadic. Ach is an autosomal dominant genetic disease that has 100% penetrance. 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 ... 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 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.
