Achondroplasia is a genetic disorder that affects bone growth and is the most common form of disproportionate short stature. It occurs in about one in every 15,000 to 40,000 live births. The disorder is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, which is involved in converting cartilage to bone. People with achondroplasia have abnormal bone growth that causes short stature with disproportionately short arms and legs, short fingers, a large head, and specific facial features. The intelligence and life span in individuals with achondroplasia is usually normal.

Although the cause is a genetic mutation, only about one out of five cases is hereditary (passed down by a parent) . Infants born with achondroplasia typically have weak muscle tone, which may cause delays in walking and other motor skills. Compression of the spinal cord and/or upper airway obstruction increases the risk of death in infancy. People with achondroplasia commonly have breathing problems in which breathing stops or slows down for short periods, obesity, and recurrent ear infections.

Infants should be monitored closely for the first two years of life and then followed every one to two years to be evaluated for complications. People with achondroplasia should have regular checkups throughout their life, as the condition can cause other health problems. Most problems can be treated. Although health complications may occur during childhood, the diagnosis of achondroplasia won’t hinder a child’s ability to live a happy and healthy life. Having a positive outlook can make a difference in a child’s self-esteem, especially by being inclusive and caring for the child according to.