Achondroplasia is the most common cause of dwarfism, or
significantly abnormal short stature. Achondroplasia is one of a number of
chondodystrophies, in which the development of cartilage, and therefore, bone
is disturbed. The disorder appears in approximately one in every 10,000 births.
Achondroplasia is usually diagnosed at birth, owing to the characteristic
appearance of the newborn. Normal bone growth depends on the production of
cartilage (a fibrous connective tissue). Over time, calcium is deposited within
the cartilage, causing it to harden and become bone. In achondroplasia, abnormalities
of this process prevent the bones (especially those in the limbs) from growing
as long as they normally should, at the same time allowing the bones to become
abnormally thickened. The bones in the trunk of the body and the skull are
mostly not affected, although the opening from the skull through which the
spinal cord passes (foramen magnum) is often narrower than normal, and the
opening (spinal canal) through which the spinal cord runs in the back bones
(vertebrae) becomes increasingly and abnormally small down the length of the
spine.
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