Achondroplasia
Achondroplasia is a genetic form of dwarfism due to a problem with bone growth and development. Achondroplasia belongs to a class of dwarfism referred to as a skeletal dysplasia. All skeletal dysplasias are the result of bone growth. Achondroplasia is a common form of dwarfism due to a mutation on one of the first 22 “non-sex” chromosomes. This causes an individual to have a short stature with disproportionately short arms and legs, a large head, and distinctive facial features such as a prominent forehead and flattened midface.
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GOOD EFFORT..CONGRATS…
Thank you for your support. If you have any suggestions or inquiries, email to:chavonne@humangeneticsdisorders.com or geneticslady@aol.com
i need more info…… how is it inherited
Achondroplasia is caused by an autosomal dominat mutation in the fibroblast growth factor receptor gene 3 (FGFR3), which causes an abnormality in cartilage formation.
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