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Achondroplasia Brochure

Achondroplasia Brochure - Children with achondroplasia only require medical care for physical challenges. Achondroplasia is the result of a genetic mutation that impacts the growth of long bones in the body. The word achondroplasia means “without cartilage formation.” individuals with achondroplasia. Achondroplasia is the most common form of inherited disproportionate short stature, or dwarfism. It is a condition of abnormal bone growth that is caused by a mutation or alteration. The manchester centre for genomic medicine developed leaflets for achondroplasia that can be of a good help for the follow up of children, with several information and also specific growth. The word achondroplasia means without cartilage formation. cartilage is a tough but flexible tissue that makes up. The affected gene is the fibroblast growth receptor factor 3 (fgfr3) gene. Achondroplasia, characterized by impaired endochondral bone growth, is the most common type of skeletal dysplasia, accounting for about 90% of disproportionate short stature. Achondroplasia is a type of skeletal dysplasia (a condition that affects the bones and cartilage).

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