Achondroplasia

By:Walker Barton
Possible genotype of the parents
Some possible genotypes are Dd x Dd this would result in 25%= DD and 25%= dd
And 50%=Dd so there would be a 25% chance that the child would have
Achondroplasia Since the genotype is DD is dominant and the disease is a
dominant too.
Describe the genotype abnormality that results in the diseases

Achondroplasia is caused by a change (mutation) in the fibroblast growth factor receptor 3

(FGFR3) gene. This prevents bone growth and mainly affects the long bones in the arms
and legs.
Physical symptoms or limitations to this disease

Some physical symptoms of Achondroplasia, are the

following Shortened arms and legs, with the upper arms and
thighs more affected than the forearms and lower legs. Large
head size with a prominent forehead and a flattened nasal
bridge. Crowded or misaligned teeth.
The Chances Of Passing It On.
There is a 50% chance that the parents will pass it down to their offspring So there
is a 50% chance that their offspring will have FGFR3 and the other 50% is that
they will have another genotype.
How Common Is This Disease?

There is a 1 in 20,000-30,000 Chance. And about 250,000 people

have this disease. So this is a very rare disease to have.
Is There A Cure?

There Unfortunately is no known cure for achondroplasia as of

right now, Since this is a inherited gene that has to do with your
genes. There is possibility of a cure anytime soon
Reflection
Some things that I found interesting were about how rare this disease really is. Another thing
that I found very interesting is that the average lifespan of a person who has achondroplasia
is 50 years which is surprisingly long for a person of that height. Another thing that surprised
me was that there are fairly the same amount of men and women that have this disease.

A couple unanswered questions that I have are how did this disease start such as the origin
and place of origin. Another unanswered question that I have is when did this occur such as
the time frame.

A couple ways you can help someone with achondroplasia is by modifying your home,
providing personal adaptive tools, etc.
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