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Achondroplasia - Living in a tall world

Marco, 40 years old, is the first member of his family to be affected by achondroplasia, a bone growth disorder affecting 1 in every 15 000 births. Though it is an autosomal dominant condition, 90% of patients are born to unaffected parents. Marco's diagnosis was given right after his birth but he can't remember when his parents ever told him that he had achondroplasia. “I probably discovered it when I compared myself to my brothers and sister,” Marco says candidly. This rare condition is characterised by a type of dwarfism that can be recognised from the disproportionately short arms and legs, and, often, a large head. Although achondroplasia literally means "without cartilage formation," the problem in achondroplasia is not in forming cartilage but in converting it to bone, particularly in the long bones.

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