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 congenital genetic disorder resulting in rhizomelic dwarfism and is the most common skeletal dysplasia. It has numerous distinctive radiographic features. Epidemiology It occurs due to sporadic mutations in the majority of c... 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. 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.
