Achondroplasia (Dwarfism)

Biology Research Project

Introduction

The main reason why I chose to do Achondroplasia is because I watch a lot of television and I enjoy seeing how the people with Dwarfism live. I have noticed that they live normal lives and are happy people it's just a little harder for them than us because of there short stature.

What is the Achondrplasia Disorder?

  1. a hereditary condition where the growth of long bones that contain cartilage is retarded, producing very short limbs and sometimes a face that is small but has a normal sized skull.




  2. During early stages of babies growth development most of the skeleton is made up of cartilage. Normally the cartilage would change into bone but in babies with dwarfism there cartilage will not change. It causes Mutation in the body

Symptoms


  • Abnormal hand appearance withspace between the long and ring fingers
  • Bowed legs
  • Decreased muscle tone
  • Disproportionately large head to body size difference
  • Prominent forehead
  • Shortened arms and legs
  • Short stature
  • Spinal stenosis
  • Spine curvatures

Why do people have Dwarfism?

Achondroplasia is inherited in autosomal dominant pattern this means one copy of the altered genes in each cell is likely to cause the disorder. About 80% of people with achondroplasia have average size parents these cases result from new mutations in the FGFR3 gene. This disorder is a Mutation. This disorder is not triggered by other genetic factors.
achondroplasia

How is Achrondroplasia inherited?

About 20% of cases are inherited. The mutation follows a autosomal dominant inheritance pattern. This means that only one parent needs to pass down a defective FGFR3 gene for a child to have achondroplasia. The disorder is called sex linked inheritance. The disorder is located on the 4th chromosome. Dwarfism is a dominant which means both genes from the mother and father are dominant and not recessive.

Is the a treated for the disorder?

Currently there is no treatment the only reason people with Achrondroplasia need to get treatment is if there legs, arms, or backs start to bother them.

How is the disorder diagnosed?

During pregnancy a ultrasound before the birth may show excessive amniotic fluid surrounding the unborn baby. Examination of the baby after birth shows increased front to back head size. There may be signs of hydrocephalus ( water on the brain ). X-rays of the long bones can reveal achondroplasia in the newborn.

Is the condition more common in certian types of people or location?

The condition occurs in 1 in 15,000 to 40,000 newborns. The disorder is not more common in one race then another or one location than another anyone can get the disorder depending on your parents genes.
Dwarfs do Single Ladies by Beyonce

What did I learn from my research?

In my research of the Achrondroplasia disorder i learned that the dwarfism condition is a genetic mutation of the 4th chromosome. There is nothing you can do to prevent the disorder.
Waylon's Story - Dwarfism