Achondroplasia

 

Achondroplasia or dwarfism is an inherited or genetic condition that causes a person to have abnormally short stature and is the commonly observed cause for short stature with disproportionate short limbs. In this condition, the average height of an adult male is 131 cm (4 feet 4 inches or 52 inches) and the average height of an adult female is 124 cm (4 feet 1 inch or 49 inches. The meaning of achondroplasia is “without cartilage formation”. However, the problem in achondroplasia is not the cartilage formation but converting the cartilage to bone, especially the long bones. The cause for achondroplasia is the alteration in the FGFR3 (fibroblast growth factor receptor 3) gene which is responsible for coding for a protein that maintains brain tissues and bones.

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