[2015] Brooks Biddle: Achondroplasia

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by raptorkerry
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[2015] Brooks Biddle: Achondroplasia

Achondroplasia

The average height of a male with achondroplasia is 131 cm (4 ft, 4 in.) and a female 124 cm (4 ft, 1 in).

Achondroplasia is a hereditary condition that slows the growth of long bones by ossification of cartilage, resulting in very short limbs

Despite having the disease, people with Achondroplasia can still live normal and successful lives

Achondroplasia is the most common type of short-limbed dwarfism. The condition occurs in 1 in 125,000 newborns.

Achondroplasia is an inherited autosomal dominant trait, about 80% of people with achondroplasia have average-size parents

Achondroplasia can cause health complications such as apnea, obesity, recurrent ear infections, and lordosis of the spine, but intelligence and lifespan are usually normal

Achondroplasia is as common in men as it is in women, the disease targets no specific cultures or ethnicities because it is a random genetic mutation

The FGFR3 gene is located on Chromosome 4. The gene is 1,793,298 to 1,808,871 base pairs in size

Achondroplasia is diagnosed by characteristic clinical and X-ray findings and genetic testing for a a mutation in the FGFR3 gene.

The only treatments as of now are growth hormones

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Mutations in the FGFR3 gene cause achondroplasia. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue.

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More than 80% of people with achondroplasia have parents who are unaffected by the disease

The famous actor Peter Dinklage, despite having Achondroplasia, has starred in movies and shows such as Game of Thrones and Elf. He is incredibly successful although he has the mutation

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By Brooks Biddle


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