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 can lead to unique physical challenges. Learn about its symptoms, causes, diagnosis, and treatment options for effective management. Achondroplasia is a rare genetic disorder recognized as the most common primary skeletal dysplasia in humans. This form of dysplasia accounts for greater than 90% of cases of disproportionate short stature, also known as dwarfism.[1] The term “achondroplasia” was first used in 1878 to distinguish it from rickets, one of many other abnormal conditions of bone growth. 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.
