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It has long been the case that people with genetic mutations were considered monsters and monsters. They scared children and tried in every possible way to avoid. Now we know that unusual for us the appearance of some people is the result of rare genetic diseases. Unfortunately, scientists never learned with them. fight. We bring to your attention a selection of the ten most unusual genetic mutations found in humans. Fortunately, they are quite rare.
A photo from open sources 1. Progeria. It occurs in one child from 8 000 000. Irreversible changes are characteristic of this disease. skin and internal organs caused by premature aging organism. The average life expectancy of people with such the disease is 13 years old. Only one case is known when the patient reached the age of forty-five years. Was recorded in Japan.
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2. Syndrome Juner Tan (SUT). People with this rare genetic defective tend to walk on all fours, have a primitive speech and inadequate brain activity. The syndrome was discovered and studied. biologist Juner Tan after meeting with the Ulas family in one of Turkish villages. About this unusual family, even a documentary was filmed. the film “Family Walking on All Fours.” Although some scientists tend to think that SUT has nothing to do with the work of genes.
A photo from open sources 3. Hypertrichosis. In the Middle Ages people with a similar gene defect were called werewolves or human apes. This disease is characterized by excessive hair growth throughout the body, including the face and ears. First case hypertrichosis was recorded in the 16th century.
A photo from open sources 4. Epidermodysplasia verruciform. One of rare gene malfunctions. He makes his owners very susceptible to the widespread human papillomavirus (HPV). In such people, the infection causes the growth of numerous skin growths resembling wood density. About the disease became widely known in 2007 after it appeared on the Internet video of a 34-year-old Indonesian Dede Cosvara. In 2008 the man underwent a complex operation to remove six kilograms growths from the head, arms, legs and torso. On operated parts new skin was transplanted. But unfortunately, after some time outgrowths reappeared.
A photo from open sources 5. Severe combined immunodeficiency. At carriers of this disease, the immune system is inactive. ABOUT diseases started talking after the movie “Boy in a Plastic Bubble”, which appeared on the screens in 1976. It talks about a handicapped little boy, David Vetter, who is forced to live in plastic bubble. Since any contact with the outside world for the baby could be deadly. Everything ends in the film touching and beautiful happy ending. The real David Wind died in 13 years old after an unsuccessful attempt by doctors to strengthen him immunity.
A photo from open sources 6. Lesch-Nyhen Syndrome – increased synthesis uric acid. With this disease, too much a lot of uric acid. This leads to kidney stones and bladder, as well as gouty arthritis. Besides human behavior also changes. He has involuntary cramps hands. Patients often bite their fingers and lips to blood and beat head on solid objects. The disease is found only in male infants.
A photo from open sources 7. Ectrodactyly. One of birth defects development in which fingers are completely absent or underdeveloped brushes and / or feet. Caused by a malfunction in the seventh chromosome. Often a companion of the disease is a complete lack of hearing.
A photo from open sources 8. Proteus syndrome causes rapid and disproportionate growth of bones and skin caused by mutation in the AKT1 gene. This gene is responsible for proper growth. cells. Due to a malfunction in his work, some cells are rapidly rapidly grow and divide, while others continue to grow at a normal pace. it leads to an abnormal appearance. The disease does not manifest immediately after birth, but only by the age of six months.
A photo from open sources 9. Trimethylaminuria. Refers to the most rare genetic diseases. There are not even statistics on its distribution. Those suffering from this disease in the body trimethylamine accumulates. It is a substance with a sharp unpleasant a smell resembling the smell of rotten fish and eggs stands out together with sweat it creates an unpleasant fetid amber around the patient. Naturally, individuals with such a genetic malfunction avoid crowded places and prone to depression.
A photo from open sources 10. Marfan’s syndrome. It occurs at one of twenty thousand people. With this disease, development is impaired connective tissue. Carriers of this gene defect disproportionately long limbs and hypermobile joints. Also, patients have visual disturbances and rachiocampsis.