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Rare Disease Day 2021 - Chandler C. Crews
Living with the genetic mutation for achondroplasia - gene FGFR3 - will at some point cause a need for medical intervention. It may be surgery in infancy for cervical decompression and/or placement of a shunt, or the possibility of a tracheotomy in a young child, or surgery in the teens to middle age or later for spinal stenosis or limb alignment. The list of complications is extensive. Achondroplasia is not simply short stature.
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