Achondroplasia (Dwarfism)

Biology Research Project

achondroplasia

Achondroplasia(Dwarfism)

I chose Achondroplasia because it captured my attention on how people with this genetic disorder became a smaller height compared to an average height of an actual person. Also wondering, how could two average height people create a dwarf?

What is Achondroplasia?

Achondroplasia is a heredity condition that changes the cartilage into a bone. Resulting in short limbs and a smaller face compared to an average sized skull. The body is much smaller than normal. It affects the kidneys, lungs, growth hormones, spine,bone structures, and the physical shape and outlook of the body.

Symptoms

Symptoms in this genetic disorder would be:

  • bowed legs
  • decreased muscle tone
  • shortened arms and legs
  • prominent forehead
  • abnormal hand appearance with persistent space between the long and ring fingers.

Causes

It is causes by the gene alteration(mutation) in the FGFR3 Gene. This gene makes proteins that converts cartilage to bone. Its a recessive disorder that is inherited when parents carry them to their offspring. This disorder is a mutation. Interferes with skeletal development and disturbs bone growth.

How does this disorder Inherit?

It is inherited in an autosomal dominant pattern, which is when one copy of the gene in each cell is sufficient. This disease is not sex linked because both men and women can carry the disease. It would be carried on the sex chromosome. The First parent could carry the disease and the other may not which leads to 50% -50%. If both parents contain dwarfism, than 50% of a child will have the disorder, 25% would be a a normal child, and the other 25% may most likely be a miscarriage. This disorder is dominant.
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Treatment

People with achondroplasia related to growth hormone deficiency can be treated with growth hormones. Most treatments would involve:

  • sugary to widen the spinal cord
  • surgery to remove tonsils or adenoids to improve breathing
  • surgeries for deformities
  • insertion of a shunt to drain excess fluid and relieve pressure on the brain

Others:

  • physical therapy
  • back braces for the spine
  • draining tubes in the ears to prevent hearing loss and ear infections
  • orthodontic treatments
  • exercising

Diagnoses

Some people are diagnosed with achondroplasia at birth or during infancy and can be diagnosed through X-Rays and physical exams. Prenatal testing are done in case of concern for any specific conditions such as weight problems, breathing problems, increase in ear infections,bowed legs, and late development of motor skills(sitting up, walking). Genetic counseling is an option for this disease.

Population Effects

Occurs in about one out of 15,000 to 40,000 live births and is evident at birth. Achondroplasia does not involve in a certain group of people or location. Achondroplasia is the most common from of disproportionate short statue.

What I Discovered...

I learned that People with this disease tend to suffer from it. They grow up being short and deformed unlike other people. They don't choose this disease, they may not even want it but have to live with it. There are so many complications that come along with this disease that it is depressing and shocking. Its no joke or game to make fun of a dwarf or person with achondroplasia.
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Carys and George's story - a Genetic Disorders UK / Jeans for Genes Day film