In this article we will discuss about What is Achondroplasia? So let’s get started.
Achondroplasia is a form of skeletal disorder known as short limbed dwarfism. It is genetic disorder of autosomal dominant type caused due to mutation in FGFR3(fibroblast growth factor receptor 3) gene. Symptoms include disproportionate dwarfism,spinal deformities like kyphosis,varus and valgus deformities in knee, shortening of proximal limbs, enlarged head with normal intelligence. It has a estimated frequency of 1 in 15,000 to 35,000 births. Diagnosis includes genetic testing. Treatment includes Growth Hormonal Therapy.