Congenital Insensitivity to Pain
Frequency: 100 documented cases in the United States. Frequency is unknown in other areas and is not usually diagnosed by unnoticed.
Cause: Recently discovered. Is due to a mutation in a gene responsible for the synthesis of a type of sodium channel that is mainly found in neurons that receive and transmit painful stimuli.
Description: These are totally normal people in touch and sensitivity to cold, heat, pressure and tingling. However, before any action that would cause pain in normal people (like sticking a needle) does not cause any painful sensation in those with this insensitivity. As a result, usually die younger by traumatism and several injuries to feel no harm. They must be under supervision at an early age so as not to injure themselves
Moebius Syndrome Frequency: Around 80 documented cases in Spain, 200 in England ... In Europe, there are about 300 children with the syndrome year.
Cause: Unknown. Do not even know if the nerves, brain stem or muscles that are involved in the origin of the disease. There are many and varied hypothesis but without supporting evidence.
Description: Because some nerves are not developed facial, people born with this syndrome lack face expression. Can not smile or frown, etc.. Nor can move the eyes laterally or control flicker. Often you can find them sleeping with open eyes. They have great difficulties in sucking, swallowing, speech and any activity involving the muscles of the face.
True Hermaphroditism
Frequency: Around 500 documented cases around the world. Actual frequency is unknown in the population.
Cause: The person hermaphrodite is a chimera. It is produced by the fusion of two zygotes of different sex. That is, first fecundaría sperm into an egg and then another to another egg sperm fecundaría more. Zygotes would be formed and that were meant to be twins, end up fusing and becoming an only individual that, genetically, is woman and man at the same time. It is unknown why there is this fusion of the zygotes.
Description: Hermaphrodites have both testicular tissue and ovarian tissue. These two can be mixed, which is called ovotestis or be on the one hand a testicle and the other an ovary. The external genitals are ambiguous and have components of both sexes. People may be looking female hermaphrodites or male.
fibrodysplasia ossificans progressiva
Frequency: 200-300 documented cases around the world. The few doctors have knowledge of it are often not diagnosed. It is estimated that appears a case for every two million births.
Cause: Unknown. It is an autosomal dominant disease. It is thought that multiple genes are involved in charge to synthesize bone growth factors.
Description: In this disease there are repeated episodes of inflammation of the soft tissues and the development of subcutaneous tumors and muscle. These injuries result in the formation bone in places where it should never occur, such as ligaments, muscles, tendons, joint capsules ... trauma can also trigger and advance the ossification of soft tissues. Gradually, the individual will lose more and more mobility until, unable to move the muscles responsible for breathing (being ossified), death by suffocation.
Ondine's Curse (primary alveolar hypoventilation)
Frequency: Between 200-300 known cases worldwide. Because sudden death is thought that the known cases are only the tip of the iceberg and that in fact 1 baby out of 200,000 born could have this disease.
Cause: Partially known. The main cause is a mutation or more of the PHOX2B gene, autosomal dominant inheritance. The mechanisms of the involuntary breathing do not work properly. While sleeping, the chemical receptors that receive signals (low oxygen or increased carbon dioxide in the blood) fail to transmit nerve signals necessary for there to be breathing.
Description: In slightest forms of Ondine's curse, the subject may go on living, but because it is not restful sleep by the lack of oxygen during the day will be drowsy, easily fatigued, have headaches, increase of red blood cells and many more. ...
In extreme forms, in which sleep means certain death, usually appear at birth, and most of newborns die but often come to know the cause. However, in those where the disease has gotten progressively worse and get to risk life whenever they sleep, usually treated with assisted ventilation during the night.
Still, despite all those treatments, any neglect of falling asleep without the indicated oxygen therapy, will mean death.
Proteus Syndrome
Frequency: 200 documented cases around the world today. It is estimated that appears a case for more than a million births.
Cause: Unknown. Some authors argue that is probably due to somatic mosaicism of a lethal dominant gene. Other authors suggest that due to a recombination in the embryo giving rise to three types of cells: Normal cells, cells of minimum growth and cells of excessive growth.
Description: There are a lot of skin and subcutaneous malformations, with hyperpigmentation, vascular malformations and irregular growth of bones. Partial gigantism occurs members or overgrowth of the fingers whereas some zones of the body grow less than they should. All this causes an extreme disfigurement of the person who normally socially stigmatizing. Josep Merrick, the famous "Elephant Man", suffered from this syndrome.
Progeria (Hutchinson-Gilford Syndrome)
Frequency: Around 100 documented cases. It is estimated that one case of progeria by each 8 million births, although could be greater since it often goes undiagnosed.
Cause: Partially known. Most cases of progeria is caused by autosomal dominant mutations in the LMNA gene. This gene participates in the maintenance of nuclear stability and chromatin organization. It could also intervene in the regulation of gene expression, DNA synthesis and repair.
Description: People with progeria age very quickly from childhood. At birth, have a totally normal appearance but they grow more and more slowly than other children and develop a very characteristic facial expression. Lose their hair, acquire wrinkles and suffer a severe damage of the arteries (atherosclerosis) which leads them to death in early adolescence.
True Human Tail (Vestigial Tail)
Frequency: Around 100 documented cases worldwide.
Cause: It is not known in depth. It is thought to occur by mutation of genes responsible for producing the cell death program of cells that were intended to form a queue.
Description: We observe the presence of a vestigial tail in the end zone of the sacrum, at the coccyx. This queue is composed of connective tissue, muscles, blood vessels, nerves, skin, vertebrae and cartilage.
Parasite Twin (Fetus in fetu)
Frequency: Around 100 documented cases around the world.
Cause: It is an exaggeration of the case of Siamese twins. Twins fail to separate completely when they are zygotes and they are united by some zone. One of these twins grows healthy whereas the other is stunted remaining inside the healthy twin and depending completely on him. It is not known why the twins are not separated properly.
Description: When the host fetus survives to birth, it can show a swelling in the area where you place the parasite fetus. 80% of the time is in the abdominal region, but also found in the skull, sacred region, scrotum .... You can also go unnoticed at first. More Later, as a person grows so does the parasite fetus.
image When testing bodies are observed in places where there should be but can also be tiny legs, arms, fingers, hair or any other element of the fetus that has developed. There are not two equal cases of fetus in fetus, since parasitic fetus can be in very different parts of the host fetus and, therefore, also be different level of growth and elements that have come to develop. There are very developed parasitic fetus and others have only a limited number of organs.
Werewolf Syndrome (Hypertrichosis lanuginosa Congenital)
Frequency: 40-50 documented cases worldwide since its discovery. The natural incidence (without counting the cases in families) is estimated at one case in a billion or one by 10 billion inhabitants.
Cause: Unknown. Is thought to be a mutation that is an autosomal dominant inheritance. Most are familiar inheritance and, very rarely, the mutation occurs spontaneously.
Description: People who suffer from it are completely covered by a long lanugo hair except in the palms of the hands and feet. The length at which hair can reach is 25 inches.
The lanugo is thin, white hair (like lint) that appears in newborn in shoulders and arms and that normally disappears after the first month after birth. In those with this form of hypertrichosis lanugo persists and can grow throughout life or disappear with age.
Alien Hand Syndrome
The alien hand syndrome, or alien hand syndrome is a rare mental disorder in which one of the sufferer's hands seems to take their own life.
The syndrome is more common in cases of which have had a separation surgery of cerebral hemispheres (commissurotomy), a procedure sometimes used to ease the symptoms of extreme cases of epilepsy. Also occurs in some other cases of brain surgery, strokes or brain infections.
The sufferer of alien hand syndrome can feel the touch in hand, but believe it is not part of your body and have no control over their movements. Strange hands can perform complex acts such as buttoning and unbuttoning a shirt. Often the sufferer is not aware of what your hand makes up that catches your eye.
The sufferer of alien hand syndrome often embody the independent member, for example believing that it is "owned" by a spirit and can fight in their attempt to punish him to control.
Tourette Syndrome Tourette Syndrome is a neurological disorder characterized by the production of chronic motor and vocal tics by people who suffer.
The syndrome is named after the French neurologist Gilles de la Tourette, who first described this disorder in 1885.
The first symptoms of Tourette syndrome usually begin between 7 and 10 years and usually involve more often boys than girls.
Tourette Syndrome is a chronic condition although the intensity of symptoms is highly variable, can tics have many seasons and seasons in which almost disappear.
The cause of this disorder is genetic although the pattern of inheritance is uncertain. Currently, we find different teams that are investigating what could be the genes responsible.
According to Dr. Emilio Fernandez, professor of Pediatrics at the University of Barcelona and founder of the Neurology Service, Hospital Sant Joan de Deu de Barcelona, \u200b\u200bin his book "Understanding Tics" (Ediciones Medici. Barcelona, \u200b\u200b2004) is, approximately about 25,000 children with Tourette Syndrome in Spain.
Trichotillomania is the loss caused by hair pulling and twisting of compulsively until it breaks. The hair may be lost in round patches or diffusely across the scalp, causing the effect of an uneven appearance. This can occur in other hairy areas like your eyebrows, eyelashes or body hair.
Mental disorders affect millions of people around the world and can lead to years of psychotherapy (and drug). In some cases, the psychological problem that is suffered is extremely rare or strange. This is a list of 10 most bizarre mental disorders.
reduplicative paramnesia
The reduplicative paramnesia is a delusion in which the person believes that a place or area has been duplicated, existing in two or more places simultaneously, or has been "relocated" elsewhere. For example, a person could believe that, in fact, not in the hospital where he had been admitted, but apparently the same hospital in a different area of \u200b\u200bthe country, although this is obviously false, as I said a report of a case:
"A few days after admission to the Neurobehavioral Center, the orientation was intact, could provide details of the accident, could remember the names of doctors and could learn new information and retain it indefinitely. Without however, showed a characteristic abnormality in the orientation of the place. While he learned quickly and remembered it was in the Veterans Hospital in Jamaica Plain (also known as the Veterans Administration Hospital Boston), insisted that the hospital was located in Taunton, Massachusetts, his hometown. After thoroughly questioning, he acknowledged that Jamaica Plain was part of Boston and admitted it would be weird to have two Veterans Hospital in Jamaica Plain located in Taunton. Once, said the hospital was located in a spare room in your home.
The term "paramnesia reduplicative" was first used in 1903 by the Czechoslovakian neurologist Arnold Pick to describe a condition in which a patient was suspected of Alzheimer's disease and insisted that he had been out of the city where the clinic was to pick one that appeared identical but was in a familiar suburb. To explain this discrepancy, even claimed that Pick and the medical staff working at both places.
Cotard syndrome
Cotard's syndrome is a rare psychiatric disorder in which the person believes she is dead, there, rotting, or even lost their blood and internal organs. More rarely, it can include delusions immortality.
In one case, commented:
"The patient's symptoms occurred in the context of more general feelings of unreality and being dead. In January 1990, after being discharged from hospital in Edinburgh, her mother took him to South Africa. He was convinced that he had been taken to hell (by heat) and died of sepsis or systemic infection (which had been one of the risks in their recovery) or perhaps from AIDS (he had read a story a newspaper called The Scotsman about someone with AIDS who had died of septicemia) or yellow fever. I thought I had "borrowed the spirit my mother to show me the hell "and that he was sleeping in Scotland.
Jules Cotard, a French neurologist, gave name to this disorder was first described and named by him as "le délire of négation" ("negation delirium") at a conference in Paris in 1880.
Diogenes syndrome Diogenes was an ancient Greek philosopher who is said to have lived in a barrel of wine (this falls more on the legend) and promoted ideas of nihilism and animalism. When Alexander asked him what he wanted most in the world, he replied: "That run off the sun! ".
Diogenes syndrome is a condition characterized by extreme self-neglect, reclusive and compulsive hoarding and, sometimes, animals. They are usually located mainly in the elderly and is associated with senile depression.
The syndrome's name, in fact, it would be wrong because Diogenes was an ascetic life and there is no evidence to suggest that neglect their own hygiene.
Reye Syndrome brain damage is sudden (acute) and liver function problems of unknown cause that has been associated with the use of aspirin to treat chickenpox or the flu in children.
Cause: Unknown. Is thought to be a mutation that is an autosomal dominant inheritance. Most are familiar inheritance and, very rarely, the mutation occurs spontaneously.
Description: People who suffer from it are completely covered by a long lanugo hair except in the palms of the hands and feet. The length at which hair can reach is 25 inches.
The lanugo is thin, white hair (like lint) that appears in newborn in shoulders and arms and that normally disappears after the first month after birth. In those with this form of hypertrichosis lanugo persists and can grow throughout life or disappear with age.
Alien Hand Syndrome
The alien hand syndrome, or alien hand syndrome is a rare mental disorder in which one of the sufferer's hands seems to take their own life.
The syndrome is more common in cases of which have had a separation surgery of cerebral hemispheres (commissurotomy), a procedure sometimes used to ease the symptoms of extreme cases of epilepsy. Also occurs in some other cases of brain surgery, strokes or brain infections.
The sufferer of alien hand syndrome can feel the touch in hand, but believe it is not part of your body and have no control over their movements. Strange hands can perform complex acts such as buttoning and unbuttoning a shirt. Often the sufferer is not aware of what your hand makes up that catches your eye.
The sufferer of alien hand syndrome often embody the independent member, for example believing that it is "owned" by a spirit and can fight in their attempt to punish him to control.
Tourette Syndrome Tourette Syndrome is a neurological disorder characterized by the production of chronic motor and vocal tics by people who suffer.
The syndrome is named after the French neurologist Gilles de la Tourette, who first described this disorder in 1885.
The first symptoms of Tourette syndrome usually begin between 7 and 10 years and usually involve more often boys than girls.
Tourette Syndrome is a chronic condition although the intensity of symptoms is highly variable, can tics have many seasons and seasons in which almost disappear.
The cause of this disorder is genetic although the pattern of inheritance is uncertain. Currently, we find different teams that are investigating what could be the genes responsible.
According to Dr. Emilio Fernandez, professor of Pediatrics at the University of Barcelona and founder of the Neurology Service, Hospital Sant Joan de Deu de Barcelona, \u200b\u200bin his book "Understanding Tics" (Ediciones Medici. Barcelona, \u200b\u200b2004) is, approximately about 25,000 children with Tourette Syndrome in Spain.
Trichotillomania is the loss caused by hair pulling and twisting of compulsively until it breaks. The hair may be lost in round patches or diffusely across the scalp, causing the effect of an uneven appearance. This can occur in other hairy areas like your eyebrows, eyelashes or body hair.
Mental disorders affect millions of people around the world and can lead to years of psychotherapy (and drug). In some cases, the psychological problem that is suffered is extremely rare or strange. This is a list of 10 most bizarre mental disorders.
reduplicative paramnesia
The reduplicative paramnesia is a delusion in which the person believes that a place or area has been duplicated, existing in two or more places simultaneously, or has been "relocated" elsewhere. For example, a person could believe that, in fact, not in the hospital where he had been admitted, but apparently the same hospital in a different area of \u200b\u200bthe country, although this is obviously false, as I said a report of a case:
"A few days after admission to the Neurobehavioral Center, the orientation was intact, could provide details of the accident, could remember the names of doctors and could learn new information and retain it indefinitely. Without however, showed a characteristic abnormality in the orientation of the place. While he learned quickly and remembered it was in the Veterans Hospital in Jamaica Plain (also known as the Veterans Administration Hospital Boston), insisted that the hospital was located in Taunton, Massachusetts, his hometown. After thoroughly questioning, he acknowledged that Jamaica Plain was part of Boston and admitted it would be weird to have two Veterans Hospital in Jamaica Plain located in Taunton. Once, said the hospital was located in a spare room in your home.
The term "paramnesia reduplicative" was first used in 1903 by the Czechoslovakian neurologist Arnold Pick to describe a condition in which a patient was suspected of Alzheimer's disease and insisted that he had been out of the city where the clinic was to pick one that appeared identical but was in a familiar suburb. To explain this discrepancy, even claimed that Pick and the medical staff working at both places.
Cotard syndrome
Cotard's syndrome is a rare psychiatric disorder in which the person believes she is dead, there, rotting, or even lost their blood and internal organs. More rarely, it can include delusions immortality.
In one case, commented:
"The patient's symptoms occurred in the context of more general feelings of unreality and being dead. In January 1990, after being discharged from hospital in Edinburgh, her mother took him to South Africa. He was convinced that he had been taken to hell (by heat) and died of sepsis or systemic infection (which had been one of the risks in their recovery) or perhaps from AIDS (he had read a story a newspaper called The Scotsman about someone with AIDS who had died of septicemia) or yellow fever. I thought I had "borrowed the spirit my mother to show me the hell "and that he was sleeping in Scotland.
Jules Cotard, a French neurologist, gave name to this disorder was first described and named by him as "le délire of négation" ("negation delirium") at a conference in Paris in 1880.
Diogenes syndrome Diogenes was an ancient Greek philosopher who is said to have lived in a barrel of wine (this falls more on the legend) and promoted ideas of nihilism and animalism. When Alexander asked him what he wanted most in the world, he replied: "That run off the sun! ".
Diogenes syndrome is a condition characterized by extreme self-neglect, reclusive and compulsive hoarding and, sometimes, animals. They are usually located mainly in the elderly and is associated with senile depression.
The syndrome's name, in fact, it would be wrong because Diogenes was an ascetic life and there is no evidence to suggest that neglect their own hygiene.
Reye Syndrome brain damage is sudden (acute) and liver function problems of unknown cause that has been associated with the use of aspirin to treat chickenpox or the flu in children.
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