We are all, of course, different - we inherited height, nose shape and eye color from our grandparents. And the unique combination of genes determines the individuality of each person. 
But sometimes this mechanism fails - and a person receives a gene mutation that greatly affects his appearance, lifestyle and even its duration.
Waardenburg syndrome 
It is a rare genetic disorder that affects one in 42,000 people. Carriers of this syndrome may suffer from hearing impairment and neurological disorders. But the most remarkable features appear in their appearance. 
They have very wide-set eyes and a wide bridge of the nose. It is also not uncommon to have heterochromia, when the eyes are different colors, or a bright blue iris. Another noticeable sign is a strand of completely white hair. Similar bright white spots can also occur on the skin.
Insensitivity to pain 
There are only a few people in the world with such an amazing mutation: a complete lack of sensitivity to pain. A striking example of this feature is the British woman Jo Cameron, who has suffered many injuries and even operations during her life. But all of them, like childbirth, were painless for her.
Arthritis, burns and a fracture did not cause her any discomfort, and she learned about her illness only from indirect signs. And it doesn’t cost her anything to chew the hottest pepper: Joe doesn’t feel any special heat in it... 
Interested in the unusual woman, medical scientists studied her genome and also took samples from her children and her mother. And they found out that insensitivity to pain is explained by a “breakdown” of the Faah gene. There are no more than 20 such people around the world. Perhaps further research into this phenomenon will help select adequate pain relief for patients with serious injuries and diseases...
Transforming girls into boys 
This very strange phenomenon is also explained by a rare genetic mutation. And it leads to the fact that a child, who at birth definitely looked like a girl, at the age of 12 begins to gradually turn into a young man! Dozens of such cases were recorded in the village of Salinas in the Dominican Republic, and even a special term was invented: “guevedose.”
"Guevedose" children 
And the whole point is a deficiency of the enzyme 5-alpha reductase, due to which by the time of birth the baby lacks male hormones and male genital organs do not form. But from the beginning of adolescence, the body begins to sharply catch up with lost time: and the girl suddenly transforms into a guy before our eyes...
Doctors call them pseudohermaphrodites: from a genetic point of view, they are males, but external signs of this do not appear very soon... By the way, a similar phenomenon was recently discovered among tribes
in remote areas of Papua New Guinea.
Progeria 
Another one of the rarest genetic defects. Children with this mutation begin to show signs of aging very early. hair falls out, the skin begins to become wrinkled, blood vessels deteriorate, and internal organs suffer.
Today there are no more than three and a half hundred such people in the world. And, of course, you cannot envy them: mutations of the LMNA gene, which encodes proteins of the human body, lead to rapid aging. Therefore, the manifestations of this mutation are also called “Benjamin Button syndrome.” 
If deviations appear already in preschool age, a person has little chance of surviving to adulthood. Until now, science knows only two carriers of this mutation who survived the 27-year mark. One of them was a certain Japanese, and the second was Tiffany Wedekind, who was rapidly aging and talking about her life, who was already 41 years old.
Yuner Tan syndrome 
This strange phenomenon was discovered in Turkey: five close relatives do not walk upright, on two legs, as we are all used to, but like a dog. Local biologist Yuner Tan became interested in the family when he learned that five of its 19 members moved only on four limbs.
Moreover, two sisters and a brother have been moving on all fours since birth, and another brother and sister sometimes manage to stand on their feet, but their knees and neck do not fully straighten. 
In 2006, a documentary was made about a family from the Turkish hinterland. And two years later, researchers discovered the reason. In all five, a specific gene responsible for the development of the cerebellum, which is responsible for the sense of balance and coordination of movements, did not work. The problematic gene is called VLDLR, but science is not yet able to help carriers of Youner Tan syndrome. It looks like they will have to walk along their life path on all fours...
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