1. Progeria
Most children with progeria die around the age of 13 years, but few live up to the 20. Typically, the cause of death is heart attack or stroke. On average, the Progeria only occurs in one child of 8000000.
The disease is caused by mutations in the lamin A / C, a protein that provides support to the cell nuclei. Other symptoms of progeria include a tough skin, completely devoid of hair, bone abnormalities, growth retardation and a characteristic shape of the nose. Progeria is of great interest to gerontologists, who are hoping to identify the relationship between genetic factors and the aging process.
2. Tan Syndrome Yunera
Yunera Tan Syndrome (SYUT) is characterized primarily by the fact that people who suffer from them, walk on all fours. He opened his Turkish biologist Yuner Tang after studying the five members of the Ulas family in rural areas of Turkey. Most people with SYUT are primitive speech, and have an innate cerebral insufficiency. In 2006, the year of the Ulas family made a documentary film called The Family, walking on all fours. Tan describes it this way:
The genetic nature of the syndrome involves the reverse step in the evolution of human-induced, most likely, a genetic mutation, the reverse process of transition from kvadropedalizma (walking on four legs) to bipedalism (walking on two). In this case, the syndrome corresponds intermittent equilibrium theory.
A new syndrome, according to Tan, can be used as a living model of human evolution. Some researchers, however, did not take it seriously and believe that the manifestation of SYUT does not depend on the genome.
3. Hypertrichosis
Hypertrichosis is also called werewolf syndrome or syndrome Abrams. It appears only one person out of a billion, and only 50 cases since the Middle Ages have been documented. People suffering from hypertrichosis, characterized by excessive hair on the face, ears and shoulders. This is due to the breakdown in communication between the epidermis and dermis during the formation of a three-month fetus in the hair follicle.
Typically, the signals generated from the dermis report their follicles form. Follicles are also, in turn, signal skin layers, that in this region one follicle already, and this leads to the fact that the body hairs grow at approximately the same distance from each other. In the case of hypertrichosis these links broken, which leads to the formation of too dense hair in those areas of the body where it should be.
4. Epidermodysplasia verrutsiformnaya
Epidermodysplasia verrutsiformnaya - deviation is extremely rare, making their media prone to widespread human papilloma virus (HPV). This infection causes a scaly patches on the skin and papules (squamous cell carcinoma of the skin), growing on the arms, legs and even the face. These build-up look like warts or more often resemble a horn or wood. Typically, tumors of the skin begin to manifest in people aged 20 to 40 years in the field open to the sunlight. Complete healing methods do not exist, but with the help of intensive therapy can be reduced or for some time to halt the spread of their tumors.
The public learned about this genetic disease in 2007, the year when the video appeared on the Internet with a 34-year-old Indonesian Dede Kosvaroy. In 2008, the man had surgery to remove growths from six kg of body. Horn formation have been removed from the hands, head, torso and legs, and in these places was transplanted a new skin. Altogether Kosvara unable to deliver 95% of warts. Unfortunately, after a while they started to rise again, and the doctors believed that the operation would have to be repeated every two years to Kosvara though he could hold a spoon.
5. Severe combined immunodeficiency
People with this genetic disorder are born without an effective immune system. The disease became known after released in theaters in 1976, the movie The Boy in the Plastic Bubble, inspired by the lives of the two boys with disabilities David Vetter and Ted DeVita. The protagonist, a young boy is forced to live in isolation from the world of plastic booth as unfiltered air and exposure to micro-organisms can be fatal for him. Real Vetter was able to live in this manner until the age of 13, but died in 1984, after a failed bone marrow transplant - medical attempts to strengthen the immune system.
The disorder is caused by a number of genes, including those that cause defects in T and B cell responses, which ultimately has a negative impact on the production of lymphocytes. It is also believed that this disease occurs due to the lack of adenosine deaminase. Now we know some of the treatments using gene therapy.
6. Syndrome Lesch-Nihena
SLN shows one male child of 380 000 and leads to an increase in uric acid synthesis. Uric acid is released into the blood and urine derived from chemical processes in the body. Persons with blood to SLN in too much uric acid which accumulates underneath the skin and eventually cause gouty arthritis. Furthermore, it may lead to the formation of kidney stones and bladder.
The disease also affects neurological function and behavior. We often suffer SLN involuntarily reduced muscle, which is expressed as seizures and / or disorderly waving limbs. It happens that patients mutilate themselves: beating his head against a hard object, bite the fingers and lips. From gout allopurinol may help, but the treatment of neurological and behavioral aspects of the disease does not exist.
7. Ectrodactylia
It suffers Ectrodactyly toes or hands are either absent or underdeveloped, because of what the hands or feet resemble claws. Fortunately, such violations are rare in the genome. Ectrodactyly can manifest itself in different ways, sometimes simply fused fingers, and in this case they can be separated by plastic surgery and in other cases not even fingers formed to the end. Often the disease is accompanied by a complete loss of hearing. Cause of the disease - the genome disorders, including deletions, translocations and inversions in the seventh chromosome.
8. Proteus Syndrome
It was probably suffering from this disease, Joseph Merrick, known as the Elephant Man. Proteus syndrome called neurofibromatosis type I. When Proteus syndrome bone and skin the patient may begin to grow abnormally fast, resulting in a broken natural proportions of the body. Usually do not show signs of the disease before 6-18 months after birth. The severity of the disease depends on the individual. On average, Proteus syndrome affect one person in a million. In the entire history documented by only a few hundred cases.
Disorder - the result of a mutation in the gene AKT1, responsible for the regulation of cell growth, resulting in some mutated cells grow and divide with unimaginable speed, and the other cells continue to grow at a normal pace. The result is a mixture of normal and abnormal cells, which causes external abnormalities.
9. Trimetilaminuriya
This genetic disease is so rare that even the incidence is not known. But if someone who is close to you suffers from this - you#39;ll notice. The fact that the patient accumulates trimethylamine, which, when released through sweat, creates an unpleasant smell - from the man smells of rotten fish, rotten eggs, garbage or urine.
Women usually susceptible to a greater degree than men. The intensity of odor peaks just before menstruation and during or after taking oral contraceptives. Apparently, this is due to female hormones such as progesterone and estrogen. Of course, as a result patients often prone to depression and prefer to live in isolation.
10. Marfan Syndrome
Marfan syndrome - the disease is not such a rare and usually occurs in approximately one person out of 20,000. It is a breach in the development of connective tissues. One of the most common forms of deviation myopia, but more often the disease is manifested in the disproportionate growth of the bones in the arms and legs, and excessive mobility of the knee and elbow joints. People with Marfan syndrome tend to have long, thin arms and legs. Rarely, patients may coalesce with each rib, whereby the thorax or bulges outwards or alternatively sinks. Another problem - a curvature of the spine.
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