Achondroplasia Research Paper

Small People of the World

Everyone has noticed a "small person" at least once throughout their lives. Most small people are known to be diagnosed with some type dwarfism usually at a young age. Dwarfism is known as people who are short in height and usually do not grow taller than four feet at the most. The most common type of dwarfism in the entire world is Achondroplasia, which is when someone is born with the lack of development of bone growth and cartilage. "Achondroplasia is the most common form of short-limbed short stature, with an incidence of approximately 1 in 20,000 live births." (Ireland E122) Achondroplasia is a type of dwarfism that sticks out because it's genetic profile, diagnosis and prognosis, and treatment plans.

People with achondroplasia have a limited ability to rotate and extend their elbows. They generally develop bowed legs and may have in-turned toes. Their hands and feet are short and broad, as are their fingers and toes. The characteristic findings of short stature, rhizomelic shortening of the limbs, and specific facial features become more pronounced over time. In addition to being diagnosed by physical examination, individuals with achondroplasia have some specific bone changes that can be seen on an x ray. In general, they have minimal medical problems, normal IQ, and most achieve success and have a long life regardless of their stature. The most serious medical barriers to an excellent prognosis are the neurologic complications that can arise in achondroplasia. Spinal cord compression is thought to increase the risk for SIDS to 7.5% in infants with achondroplasia and can lead to life-long complications such as paralysis if

Measurements of head circumference are important to monitor for the development of hydrocephalus—a known but rare (5%) complication of achondroplasia Hydrocephalus is caused by an enlargement of the fluid-filled cavities of the brain due to a blockage that impedes the movement of the cerebrospinal fluid. Suspected hydrocephalus can be confirmed using imaging techniques such as a CT or MRI scan and can be treated with neurosurgery or shunting if it causes severe symptoms. Due to the abnormal shape of the eustachian tube in an individual with achondroplasia, they are very prone to ear infections. Approximately 80% of infants with achondroplasia have an ear infection in the first year of life. About 78% of these infants require ventilation tubes to decrease the frequency of ear