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achondroplasia

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achondroplasia [¦ā‚kän·drə′plāzh·ē·ə]
(medicine)
A hereditary deforming disease of the skeletal system, inherited in humans as an autosomal dominant trait and characterized by insufficient growth of the long bones, resulting in reduced length. Also known as chondrodystrophy fetalis.


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My son has a condition called achondroplasia, which is a form of dwarfism that affects the long bones of the body (arms and legs).
In an inherited condition called achondroplasia, defective bone formation results in abnormally short and thickened pedicles that reduce the diameter of (distance across) the spinal canal.
Achondroplasia, the form of dwarfism that affects the Bankowskis and most other little people, is characterized by shortened limbs and small bodies and a distinctive skull shape with a prominent forehead and small jaw, said Ravi Savarirayan, a geneticist at Cedars-Sinai Medical Center.
 
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