N: 1. Composed of the prefix a- (“not”) + chondro- (“cartilage”) + -plasia (“growth”).
2. Achondroplasia is a disorder of bone growth that prevents the changing of cartilage to bone (particularly in the long bones of the arms and legs).
3 Achondroplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researchers believe that these mutations cause the FGFR3 protein to be overly active, which interferes with skeletal development and leads to the disturbances in bone growth seen in this condition.
4. Achondroplasia can cause health complications such as interruption of breathing (apnea), obesity, recurrent ear infections, an exaggerated inward curve of the lumbar spine (lordosis). More serious problems include a narrowing of the spinal canal that can pinch (compress) the upper part of the spinal cord (spinal stenosis) and a buildup of fluid in the brain (hydrocephalus).
5. Do not confuse achondroplasia with chondroplasia. This term does not characterize a disease but a group of diseases.
6. Cultural Interrelation: The American actor, Peter Dinklage, has achondroplasia.
S: 1. Wiktionary – https://en.wiktionary.org/wiki/achondroplasia (last access: 31 October 2020). 2 to 4. GARD – https://bit.ly/34Bq8d9 (last access: 29 October 2020). 5. Orphanet – https://bit.ly/3e9ccu0 (last access: 29 October 2020). 6. AQPPT – https://bit.ly/3mAPmi2 (last access: 29 October 2020).