Part 1:

Hi I’m Roberts’s syndrome! I am a genetic disorder characterized by limb and facial abnormalities. I am a very rare disorder, only 150 individuals have been recorded to have me. You can inherit me if both your parents carry one copy of my mutated gene. When you have me you may grow slowly before and after you’re born! Half of all people that have me have mild to severe learning disorders. Children born with me can have some abnormalities in all four limbs. They can have shortened arm and leg bones and sometimes they are so short that the hands and feet are located very close to the body. People that have me may have missing fingers and toes. They can also have joint deformities. Arms are usually more affected then legs though. People that have me may have several facial abnormalities like a cleft lip or a cleft palate. They may also have a small chin, interesting ear shapes, wide set eyes, small nostrils and a beaked nose. Infants with a severe case of me often are often stillborn or die shortly after birth.

Part 2:

How was the mutation caused? Substitution? Insertion? Deletion? You can inherit this syndrome if both of your parents carry one copy of the mutated gene.

How did it affect the body? Did it affect the AA sequence? People that have Roberts Syndrome may have several facial abnormalities like a cleft lip or a cleft palate. They may also have a small chin, interesting ear shapes, wide set eyes, small nostrils and a beaked nose.

What are the symptoms of these genes? Growing slowly, mild to severe learning disorders, and shortened limbs

What sort of treatment is there for this mutation? At this moment in scientific history there is no treatment due to how little people have this syndrome

What is the normal life expectancy? Most individuals live well into adult hood, but others die shortly after birth

Are there any set backs like learning disabilities? Yes, over half of all individuals have mild to severe learning disabilities. Also they may have cleft lip/ palette which sets them back on eating, talking, and drinking

Digital Tools

Started with what I knew from the beginning (that was very minimal information). From there I simply researched the name of my syndrome. I made sure to choose the websites that were easy to follow. I also made sure to make sure my information was correct by seeing if I could the same information on another site. Then I took the information from the different sites to create a mutation story.

Verifying and citing

What I like to do in order to verify my information is to cross reference it. If I find a piece of information from one source I want to see if it’s been provided from another. This way I have more sources behind my information. I made sure to check usage rights on the website to see make sure I was allowed to use the information.

Final Thoughts

I found this project quite fun to do, it is a very good way to test your creative ability. I definitely learned a lot more about the syndrome I chose. I found writing a story in a first person point of view to be very creative and also easy to do since we typically talk in first person on a 24/7 bases.