8 anomalies that demonstrate how unpredictable genetics
Categories: Health and Medicine | World
By Pictolic https://pictolic.com/article/8-anomalies-that-demonstrate-how-unpredictable-genetics.htmlThe chance to meet somewhere on the street people of the world equal to probably one percent. They're a real rarity, if you like, the x-men. And made them such a variety of genetic anomalies.
These photos are another example of how unpredictable nature can be.
Syndrome of Wiedemann — - Joest-is an extremely rare congenital disorder in which a person is aging prematurely. Patients with this syndrome (and there are only a few people in the world!) almost not gaining weight, their skin droops and looks old, not corresponding to age.
The most famous patient with this rare disease blogger and author Lizzie Velasquez. The girl leads an active social life, trying to help people with other genetic abnormalities. By page Velasquez on Instagram watch more than 600 thousand people.
This hereditary disease has several clinical signs. These include congenital deafness, a white streak above his forehead, telecast (lateral displacement of inner corner of the eye) and heterochromia of the iris.
Most often the disease is inherited, but in rare cases can be caused by a sudden mutation. Unfortunately, waardenburg syndrome is not only external signs, sometimes it leads to the development of deafness.
Piebaldism similar to vitiligo, since both diseases are characterized by metabolic disorders of pigment and appearance of white strands of hair. However, piebaldism different localization of spots on the skin of the chest and abdomen. In addition, its features — the presence of lock of white hair, darker spots devoid of pigment the skin. These features are already visible since birth.
Piebaldism is a rare hereditary disease, and the frequency of its distribution is only 1 in 17 thousand people. This anomaly does not affect the function of internal organs and systems.
Anisocoria is a condition in which a person is observed the difference between the sizes of the pupils. Often one pupil is abnormal, namely, is always in fixed position.
Clinically it is important to establish which of the pupils is in a pathological state, as it may indicate the presence of other abnormalities. For example, the lack of activity at the smaller of the two pupils may be a sign of Horner's syndrome, which occurs in lesions of the nervous system.
Another anomaly associated with the eyes — heterochromia. It is expressed in different color of the iris of the right and left eyes or different color in certain parts of the eye. This violation arises from an excess or lack of melanin the pigment responsible for the color. The albinos, for example, may not even exist, and people with heterochromia occurs in an altered state.
This anomaly is so popular that many people even buy colored lenses, imitating people with heterochromia. And yet, this very feature attracts representatives from modeling agencies. We have already talked about two brothers from Turkey, which, thanks to the heterochromia steel models.
About vitiligo you probably have already heard. Now a lot of models with this disease, and once we showed you photos of the most popular ones. Vitiligo is pigmentation disorders, which is reflected in the disappearance of the pigment melanin in certain areas of the skin.
Vitiligo can begin at any age as a result of the effects of certain drugs and chemicals, after the inflammatory and necrotic processes in the skin, due to neuro-trophic, neuroendocrine and autoimmune factors. But the predisposition to vitiligo is inherited.
Syndrome Schmid-Fraccaro, which is also called cat eye Syndrome — rare congenital disorder that occurs due to the presence of an extra chromosome. One of the characteristic clinical signs of the syndrome — upper Colomba of the eye, i.e. the lack of part of the iris. This defect makes the person look like a cat, hence the name.
A feature of the exterior is not the only challenge you face sick syndrome Schmid-Fraccaro. They may experience heart defects, short stature, malformations of the kidneys, mental retardation, scoliosis and many other problems.
Syndrome narecheniem hair (another name of glassy hair) makes its carrier look similar to dandelions. Their hair sticking out in all directions, while the ability to stack it, to gather into a bun or to braid her hair missing due to the huge volume caused by the structural abnormality.
The disease usually develops in infancy, and at puberty is by itself. But medicine is known cases when this syndrome started following people throughout life. And though by itself, this anomaly does not pose any risk, you will agree, pleasant enough.
Keywords: Abnormalities | Genetics | Mutant | Mutation | Disturbance | Unusual people | Pathology
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