What is Achondroplasia Dwarfism?

Achondroplasia dwarfism, also known as osteosclerosis congenita and chondrodystrophia fetalis, is a genetic condition that results in people being short in stature. The condition occurs when cartilage cells do not grow properly while the baby is in the womb. A person with achondroplasia dwarfism will have short bones in their limbs. Affecting one out of 20,000 births, dwarfism and may lead to various health problems down the road, including respiratory ailments and infections.

A person with achondroplasia dwarfism will typically grow between 49 to 52 inches tall (about 131 to 124 centimeters). An individual with dwarfism will typically have normal intelligence but will have short limbs, tiny fingers, and a large head, with a prominent forehead and a compressed nose. In about five percent of cases, the dwarfism is so severe that an infant will live less than a year, but in the majority of instances, a person with the condition may expect to live a normal life span.

In most cases, achondroplasia dwarfism is caused by a mutation in the FGFR3 gene and an infant is born to normal-sized parents. The FGFR3 gene is responsible for the creation of bone and brain matter. When the FGFR3 gene is overly active, it hinders the development of the skeleton, causing disruption in the development of bones. A child born with two altered FGFR3 genes will generally have severe complications of bone growth and may lead to respiratory failure. A person with dwarfism may pass the condition on to his children and in some cases, the condition is more common in infants with fathers over the age of 40.

A person with achondroplasia dwarfism is prone to have some difficulties in life. Dwarfism can lead to poor muscle tone, causing an infant to start walking later than normal. Also, dwarfism may lead to the development of a swayed spine and bowed legs. With the condition, a person may have overcrowded teeth and suffer from numerous ear infections, which may develop into some type of hearing loss. Dwarfism may also cause sleep apnea and obesity, and older adults with the condition may experience back pain and trouble walking.

No cure for achondroplasia dwarfism exists. A person with dwarfism will not be able to grow to normal size, but in some cases, surgery may lengthen the legs by almost a foot (about 30 centimeters). Patients with dwarfism generally will have to see doctors regularly to treat medical conditions that may arise because of dwarfism.