Achondroplasia (dwarfism)

Medical Achondroplasia is a dominant, autosomal mutation. One would inherit this condition if the parents carried the gene 80% of the cases, people with dwarfism have normal parents that simply acquired the gene over time. There is really only one genotype for this condition and it is heterozygous because if a fetus was homozygous dominant, the child would die shortly after birth. This disease has a prevalence of ~1: 25,000 A person with Achondroplasia has a 50% chance of passing the mutation on to their offspring, 25% chance of having a normal child, and a 25% chance of the child dying shortly after birth Achondroplasia is diagnosed with a prenatal ultrasound and the condition is diagnosed by looking at the skeletal structure, and a DNA test to detect if the child has both of the dominant chromosomes This condition’s symptoms are the following: –Short stature –Shortening of the limbs –Large head and forehead –Abnormal spinal curvature –Bowlegged or knock knee deformities –Frequent ear infections –Sleep apnea AA stillbirth Aa dwarf Aa dwarf aa normal

Medical cont. Most people with Achondroplasia have a normal life expectancy This disease is often treated by the controversial method of limb lengthening which repeatedly breaks the bones of the limbs and and separates the 2 sides of the bone, allowing the limb to heal which makes it longer. Scientist are currently doing research on the protein that is affected in Achondroplasia which could lead to a better understanding of the condition and perhaps even a cure.

Personal People afflicted with achondroplasia are often subject to public scrutiny due to their stature and often take a lot of abuse from people who do not understand the condition The physical limitations are pretty obvious, we live in a world built for average sized people and being a dwarf can cause some difficulties like not being able to reach things. Some organizations that help with dwarfism are –Little people of america: – –Little people’s research fund: –Human growth foundation: –March of dimes birth defects foundation:

Bibliography en.wikipedia.org/wiki/achondroplasia