8. Treacher Collins syndrome
Up next on our list of uncommon genetic mutations in humans we have this syndrome which occurs in 1 in 50.000 people. The condition affects bone and facial tissues development, with symptoms varying depending on individual cases. People with the condition have underdeveloped cheekbones, jaw, and chin. As studies show, Treacher Collins syndrome is caused by the genetic mutations of genes which are essential for the production of proteins playing a role in the early development of facial bones and tissues.