What is achondroplasia? In the early stages of development, much of the fetal skeleton is made up of cartilage tissue, which turns into bone. Achondroplasia occurs when cartilage tissue doesn't develop in the bones of your arms and legs. This genetic disorder leads to short-limb dwarfism with the upper parts of arms and legs shorter than the lower portions of those limbs (rhizomelic shortening). Causes : Achondroplasia is caused by a gene mutation in the receptor that converts cartilage to bone during fetal development. Inherited as an autosomal dominant trait Father's age is more than 45 Features of Achondroplasia Symptoms of Achondroplasia: Bones are shortened (thigh, upper arm). Short hands and feet. Large separation between third and fourth fingers. Maximum height of 4-ft. Head larger than normal. Prominent forehead. Flat nose. Delayed development in infants (sitting, crawling, walking) . C...
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