TOP 10 rare mutations that go beyond the definition of "human"

Thinking about a person, most have a strict idea of what he should be. A head, two arms, two legs, and so on. But there are people who do not fit into this framework, nevertheless, they are undoubtedly the same people as you and me. Of course, you could have seen this before on the Internet, but could it be true or fictional? Here are 10 rare mutations that go beyond the definition of "human."

10. Anencephaly

You can easily find an article about the "baby frog", partly it is false, partly it is a description of a rare pathology. The mutation is called anencephaly, which is a neurological disorder. During pregnancy, at 3-4 weeks, a plug for the brain and spinal cord closes the neural tubes. In infants with anencephaly, the neural tube does not close completely, leaving the brain exposed to amniotic fluid, which causes nerve tissue degeneration. The brains of children with anencephaly are distinguished by missing parts of the skull, brain and cerebellum, which leads to blindness, deafness and even lack of consciousness. Babies with this condition are usually born dead or die within the first weeks. Anencephaly is rare, 3 in 10 thousand are born with such an anomaly. However, if a child with anencephaly was born to the parents, the risk increases to 3-4% during the next pregnancy, and 10-13% during the next pregnancy. The cause is unknown, but Hispanic mothers have a higher risk of having a baby with the condition. Anencephaly is associated with a lack of B9 or folate. Supplemental folic acid intake cuts the risk in half. The disease can be detected during pregnancy using ultrasound, tests for an excess of amnion in the amniotic fluid or an excess of alpha-fetoprotein. The cure doesn't exist.

9. Ectrodactyly

Better known as "claws", the name "ostrich leg" can be found on the Internet. The disease is caused by mutations on chromosomes 10, 7, 3, or 2; x-linked states break up. There are 2 types of ectrodactyly. The first type is shown in the photo, it passes through the middle finger and is a large cleft in the middle of the limb. There may be straps between the toes. The second type: only the fifth toe and no cleft. Sometimes both types can be found in the same family. There are syndromic and non-syndromic manifestations, but in any case, the disease does not affect either intelligence or life expectancy. Ectrodactyly is an autosomal dominant disorder, that is, it is transmitted through a single mutated gene. The probability of passing such a gene to a child is 50% and does not depend on gender. There are also recessive autosomal cases. This concerns 1 out of 18 thousand people, is diagnosed at birth, and with the help of X-rays, you can more carefully study the manifestation of the disease. Reconstructive surgery and prostheses will help improve functionality for people with ectrodactyly.

8. Epidermodysplasia

It is also called "tree disease", although verruciform epidermodysplasia (EV) has nothing to do with trees. EV is a rare autosomal recessive skin disease, which means both parents must be carriers. About 10% of children with EV are born in marriages between blood relatives. The disease manifests itself in childhood: in 7.5% of cases - in infancy, 61 %% - at the age of 5-11 years and 22.5% - during puberty. Statistics are correct regardless of gender and race. Epidermodysplasia appears as a skin rash caused by the human papillomavirus (HPV). The immune system affected by EV is unable to cope with infections, and the manifestations are visible on the skin. They can be with a flat top from light pink to purple, begin to peel off and become already plaques. Papules most commonly appear on the face, arms, legs, and earlobes, while plaques appear on the neck, limbs, and trunk in general. The lesions can become cancerous when exposed to sunlight. The degree of susceptibility depends on the type of HPV. After many trials, it was found that removing the lesions is more effective than other methods. Surgical removal is also acceptable. EV prophylaxis does not currently exist.

7. Hypertrichosis

Of course, werewolves do not exist, but people with hypertrichosis are also called werewolves, and even ape-like. Although they do not howl at the moon, they have hairs in unexpected places. Their hair covers the belly, arms, legs, even palms and soles. Hair can be both coarse and thick, and soft, thin, like baby fluff, colorless and colored. Topical procedures help to fight excess hair: hair removal, plucking, laser removal. About 50 cases have been known since the Middle Ages. Distinguish between spontaneous hypertrichosis, that is, spontaneous mutation, and acquired, it is associated with cancer. Congenital causes fetal alcohol syndrome or anti-seizure medication. Hypertrichosis most commonly affects people from South Asia and the Mediterranean. There are several known symptoms associated with hypertrichosis, the most common being gum disease.

6. Polymelia

Sometimes we all would like to have one more hand, but this desire is hardly shared by those who were born with an extra limb. A syndrome in which people from birth have an extra lower limb is called polymelia. The extra limb, as a rule, is defective, but still there are bones in it and the blood supply is carried out. The disease is common in animals and extremely rare in humans. Polymelia is classified according to the location of the extra limb. Cephalomelia - if the limb is located on the head, notomelia - if the limb is attached to the spine, thoracomelia - located on the chest, pyromelia - in the pelvic region. Polymelia is caused by thalidomide or hormonal drugs. The development of an extra limb can be detected in the fetus at 4-5 weeks of gestation. Polymelia is also the result of incomplete separation of twins. Surgery to remove an extra limb will help those suffering from this syndrome.

5. Progeria

If old people say that they were children yesterday, their words are figurative. This applies to patients with Progeria in the literal sense. Progeria (from the Greek for “aging”) is a fatal disease that causes symptoms of aging from the age of two. Patients, on average, die at the age of 14 from heart disease. Progeria causes accelerated aging in children and is also associated with changes in physical characteristics. The characteristics of people with Progeria include large eyes, a small chin, senile skin, bone and heart problems, and loss of subcutaneous fat. The disease does not affect intelligence and motor skills. Approximately 1 in 4-8 million children are affected. There is no cure for progeria, but there are methods for relieving symptoms. Exercise, proper diet will help with lipid disorders, padded shoes will make walking more comfortable. If necessary, procedures can be carried out to normalize the functions of the heart. Doctors often prescribe nitroglycerin and recommend sunscreen to avoid skin problems.

4. Proteus syndrome

Those affected by this syndrome are the only ones in a million. Proteus syndrome is a rare condition that affects bones, skin, internal organs, and other tissues. Patients often develop benign tumors, body asymmetry and the risk of thrombosis. Pulmonary embolism may occur, which in turn leads to death.In some cases, people with Proteus' symptom are mentally disabled or prone to seizures. External features include a long face and drooping outer corners of the eyes. Patients develop lesions - skin thickenings with grooves and grooves on the legs, less often on the arms. The syndrome causes the appearance of tumors such as bilateral cystic ovarian adenoma, monomorphic adenomas, meningiomas, cyst tumors in the eyes. Strabismus is also possible. Proteus syndrome is hereditary, as well as does not occur due to environmental influences. It occurs in the first weeks of fetal development, due to a mutation in the ATK1 gene, which is responsible for the growth, division and death of cells. The mutation causes the cell to divide uncontrollably, and the effect on body parts will be accidental. Typically, the newborn will appear completely normal and overgrowth can be prevented by 6-18 months. Proteus syndrome is extremely rare and occurs by chance, there is even no need to track the patient's family history.

3. Sirenomelia

While there is a common understanding of mermaids, mermaid syndrome is different from it. Sirenomelia or mermaid syndrome is an anomaly expressed by the presence of only one lower limb in a newborn. In the literature, you can find a description of only 300 cases, of which 15% is one of a pair of twins, and another 22% are children born to mothers with diabetes. The probability of having a child affected by this syndrome is 1 in 60-100 thousand, the ratio between sick boys and girls is 2.7: 1. Most die in infancy, but reconstructive surgery can extend the lives of patients into adolescence. The cause of sirenomelia can be both heredity and environmental factors. Sometimes there is only one artery and two branches of the aorta, which provide blood supply to the lower body, resulting in a lack of nutrients and as a consequence of underdevelopment. The greatest risk of sirenomelia is in children whose mothers have diabetes mellitus. Along with mermaid syndrome, there are problems with the spine and gastrointestinal tract, and a common cause of death for patients is underdevelopment of the lungs. There are seven types of sirenomelia according to the development of the lower limb: from the presence of all the necessary bones and skin to just one bone in the "leg".

2. Cyclopia

Cyclops is a famous character in Homer's Odyssey. It is believed that his description corresponds to the description of patients with cyclopism. This is an anomaly that occurs in a child born with one central or two unseparated eyes, also often missing a nose. 1 in 100 thousand gets sick. An anomaly can be detected in the perinatal period using ultrasound and sonography. There are 3 types of cyclopia, and babies prone to it are aborted or stillborn. Those born alive shortly after birth die due to fatal accompanying symptoms.

1. Polycephaly

What if we were forced to share our bodies with another person? People with two heads know the answer. Polycephaly is an extreme case of Siamese twins, 1 in 50-200 thousand pregnancies. The appearance of polycephaly depends on how the twins are separated in the womb, and whether they will not be connected afterwards. As a rule, they are considered to be two people sharing control over organs and limbs. People with this anomaly have sufficient coordination to walk, run, and even drive. In rare cases, one of the heads is parasitized, but surgery to remove it is not effective, and most people do not survive after it.