Achondroplasia (Dwarfism)

Biology Genetic Disease Project

The Study of Dwarfism

The reason I chose to reasearch dwarfism is because it seems very interesting. I know very little about this genetic disorder, I would love to learn more about it. It amazes me how someone could be a grown man or women and be the height of a young child.

Definition of Dwarfism

Dwarfism is generally defined as an adult height of 4 feet 10 inches or less. There are two different categories of dwarfism, Disproportionate dwarfism and Proportionate dwarfism. Disproportionate dwarfism inhibits the devolopement of the bones. Proportionate dwarfism is found when you are a baby and limits growth and development.

Description of the Symptoms of Dwarfism

Most people with dwarfism have disorders that cause disproportionate short stature. The head is disproportionally large compared to the body. Average trunk size, short arms and legs, with particularly short upper arms and upper legs. Short fingers, a wide separation between middle and ring finger. Very little movement at the elbows. Often have short necks and instability of the neck bones.

Cause of Dwarfism

Dwarfism can be cause by over 200 different conditions. These include metabolic and hormonal disorders such as growth hormone deficiency. Most occurrences of dwarfism results in a random genetic makeup in either the fathers sperm or the mothers egg. During early fertile development, most of the skeleton is made up of cartilage. Most cartilage is converts to bone. People with dwarfism, a lot of their cartilage does not convert to bone. This is caused by genetic mutations in the FGFR3 gene.

How Dwarfism is Inherited

Dwarfism usually runs in the family, not always but most of the time. The most common type of dwarfism is dominant. To get this type that means you have a parent with dwarfism. The rarest types of dwarfism is recessive. If your father has this type of dwarfism, their is a chance you could possibly pass it to your children. They are very unlikely to get dwarfism if they get the DNA from you rather than your father.

How Dwarfism is Treated

People with dwarfism have orthopedic or medical complications. This can be treated by inserting a shunt to drain excess fluid and relieve pressure on the brain. Surgery to remove tonsils to improve breathing problems related to large tonsils, small facial structure and/or a small chest. Surgery to widen the spinal canal to relive spinal cord compression is another way to treat this genetic disorder. A tracheotomy will improve breathing through small airways. People who have dwarfism will do physical therapy to strengthen their muscles and joints. Also they have to have frequent orthodontic treatments to relieve crowding of the teeth due to having a small jaw.

How Dwarfism is Diagnosed

Your pediatrician will examine many factors to assess your child's growth and determine if your child has a dwarfism related disorder. Diagnostics test will include measurements, they will measure your height, weight, and head circumference. Many times a pediatrician can look at your child and tell if he or she has a dwarfism by the way their facial and skeleton features look. They will look at your family history to see if any siblings, grandparents, parents or other relatives to see if the average height in your family includes short structure.

How Many and What Type of People are Likely to Have Dwarfism

Dwarfism occurs in about one out of 26,000 to 40,000 babies and is evident at birth. Dwarfism has nothing to do with race or where you were born. It is caused by growth hormone deficiency and has to do with your genes.

What I Discovered About Dwarfism

I have learned many new interesting facts about dwarfism that I did not before I started to research the genetic disorder. I learned that to be considered at dwarf you have to be an adult who is under four feet ten inches. I learned that there are many types of dwarfism and each kind affect you in a certain way. I learned that dwarfism can be caused by over two hundred different conditions. I am glad I chose to research dwarfism, it was a very interesting topic and fun to learn about.
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Exploring Dwarfism