Dwarfism

By: Olivia Diaz

Affected

  • 1 in every 25,000 people are affected by Dwarfism
  • Once a baby is born, you can tell almost instantly if they are affected by achondroplasia

Symptoms

  • Short stature
  • Short arms, legs, and fingers
  • Limited mobility at the elbows
  • A disproportionate large head
  • An adult height of around 4 feet

Famous people with Dwarfism:

Proteins

The protein that is affected in Dwarfism is the FGFR3 gene. This gene in a healthy individual send instructions to create a protein called the fibroblast growth factor receptor 3. This helps with the development of growth in your bones and body. People affected by achondroplasia, the most common form of dwarfism, have a mutation in this FGFR3 gene, leading them to have that gene deficiency which causes them to not grow.

Inheritance

Achondroplasia is inherited by an autosomal dominant pattern, which means only one copy of the gene in each cell is needed to cause the disorder. About 80% of people who have achondroplasia have normal-sized parents, and the cause of their disorder is new mutations in the FGFR3 gene. This means the other 20% have inherited the gene from either one or both parents. Typically if it is inherited from both parents, the infant could have a sever case which could lead to death shortly after birth.
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Treatments and Diagnosis

The diagnosis for Dwarfism is based specifically on height and the amount of chromosomes they have. Some techniques that can be used to diagnose Dwarfism are having and X-Ray of the long bones as an infant, having an MRI, and taking a blood test to check for growth hormones.

There is no specific treatment for those affected by achondroplasia, but people will receive treatments like nutritional changes, hormone replacement therapy, and other medications that help to increase growth.

Dwarfism is used to describe many disorders that lead to having short stature in a person. This means that not everyone with a form of dwarfism will have the same treatments. The ethical implications of Dwarfism is that no matter what, having this disorder will not limit their time on this earth because the medicine will help them to live happy and healthy lives.