Achondroplasia

Achondroplasia: A disturbance in the body of a congenital abnormality of cartilage in the bone plate that resulted in the body structure to be short-boned. Achondroplasia term first used by Parrot (1878). Achondroplasia derived from the Greek achondros: no cartilage and plasia: growth. Achondroplasia literally means without the formation / growth of cartilage, despite the fact that only people with achondroplasia have cartilage that becomes a problem is interference when the formation of cartilage into bone where it often happens, especially in long bones. The disease is inherited in an autosomal dominant with 85-90% of cases is a form of genetic mutation. Because this disease is a defective gene, then the disorder can not be prevented or treated. Percentage incidence of achondroplasia is 1 / 25000 of the birth rate and of the statistical data of this disease is more common in girls than boys. In general, males with achondroplasia has a body height of less than 130 cm, whereas in women is much shorter. In general, people with achondroplasia have the physical characteristics of the larger skull with prominent forehead, pug nose and hand and foot bones that tend to be short.