Rare Genetic Diseases
Rare Genetic Diseases
Apr 13, 2018
genome.gov
This family lives with one of the rarest genetic conditions on Earth — their faces constantly change shape over time. The disorder affects the connective tissues and bone structure, causing subtle but continuous shifts in facial features. Doctors say it’s linked to a mutation that alters how collagen forms beneath the skin. As they grow, their faces gradually reshape — jawlines, cheekbones, even eye placement can change. Despite the condition, they live normal, happy lives and embrace their uniq
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