Imagine living in a world where everything is super-sized. Imagine having to step on a stool to crawl into bed, or having to climb onto a shelf to be able to reach a light switch. Most of all, imagine having to look up to your much taller younger sister when she speaks to you. Situations like these are what Ivy Broadhead, a teenager with achondroplasia, have to go through everyday.
Ivy was born with achondroplasia, the most common form of dwarfism. It is caused by the presence of two mutant alleles in the fibroblast growth factor receptor-3 (FGFR3). It is a substitution, to be precise, at nucleotide number 1138 in the DNA. This substitution on the DNA level results in a minute change on the protein level. This change in the protein…show more content…
Achondroplasia is a disorder of bone growth and occurs in about one of every 25,000 births. Achondroplasia literally means ?without cartilage formation,? but in reality the cartilage in an individual does form, it just isn?t converted properly into bone, resulting in the individual being of abnormally short stature. People with achondroplasia are typically between four feet and four feet, five inches. Their skulls are misshaped and they have short limbs, and stubby fingers and toes. Their heads are large and look out of place on their body, and their foreheads are prominent. Some are bow-legged or hunch backed, and some have hyper-extending joints while others have under-extending joints. Dental crowding commonly occurs.
Achondroplasia can be diagnosed in several different ways. Firstly, the condition can be diagnosed through prenatal diagnostics, where testing is preformed on the fetus. DNA can be extracted from the fetus and tested to see if there are any FGFR3 mutations. Chronic villus sampling, amniocentesis, and ultrasounds can even be used to diagnose the condition.
Achondroplasia can not only be diagnosed on a molecular level, but also on a physical level. Newborns with the disorder usually have abnormally long torsos with noticeably short arms and legs. Their heads are large and their foreheads prominent. They have