Achondroplasia Disorder TAra whittaker

This is the normal structure of a body when one has achondroplasia disorder. All the bones are shortened and it'd look like a child but really that would be an an average size of human containing the disorder.

Achondroplasia is a hereditary condition that is a dwarfism and is when that person tends to have very short limbs and bones but normally tends to have a normal size torso but everything else is shortened. Also, many people diagnosed have a normal sized skull as well but there head is abnormally small.

This disorder is caused by a GNA alternation gene called FGFR3. Which this gene makes a gene called fibroblast growth factor receptor 3. This is the only gene that claims to be a part of achondroplasia. All people who have a single copy of the normal FGFR3 gene and a single copy of the FGFR3 gene mutation will have achondroplasia. The cartilage doesn't convert to the bone, which is odd and makes the disorder more inherited. There is a molecular testing that used to detect the mutation in FGFR3, and which is the only gene to cause such. People with achondroplasia usually tend to have normal sized parents, but this gene starts in one parents egg or sperm cell before producing a child.

Normally all chances a children's parents that have achondroplasia do not get it at all, but when this does not happen it means it was followed by a dominant inheritance pattern which then that parent passed down the FGFR3 gene for the child to get achondroplasia.

Dwarf people tend to have all same abilities as an average person would they just have different features.

Phenotype Features: -Small stature -Limitation of extension of elbow -Short limbs -Short fingers -Large head -Big forehead -Shortened of arms and legs

Created By
Tara Whittaker


Created with images by Trondheim byarkiv - "untitled image" • ryanmcjohnson - "achondroplasia"

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