Wednesday, September 26, 2007

Top 10 Weird Anomalies in Medicine

10.Congenital insensitivity to pain
Frequency: 100 documented cases in U.S.A. The frequency in other countries is unknown and it is usually undiagnosed.
Description: They are totally normal people in the sense of touch and in the sensibility of cool, heat, pressure and tickling. However, with a normal act wich would cause pain (as to nail a needle) it does not cause them any painful sensation. As a result of this, they usually die younger by traumatism and several injuries because of their lack of pain perception. They must be under supervision in early ages so that they can´t injure themselves.

9.Moebius Syndrome

Frequency: Around 80 documented cases in Spain, 200 in U.K… In Europe, around 300 kids appear with this syndrome each year.

Description:Because some face nerves are not developed, the people who are born with this syndrome lack face expression. They cannot smile, frown, move the eyes laterally or control the blinking. They are often found sleeping with the open eyes. They have great difficulties in sucking, swallowing, speaking and any activity in which are implied muscles of the face.

8.True Hermaphroditism

Frequency: Around 500 documented cases in the world. The real frequency in the population is not known.

Description: Hermaphrodites have both testicular and ovarian tissue. These two can be mixed, wich is called ovotestis or be separated elements, on the one hand a testicle and on the other an ovary. The external

genitals are ambiguous and have components of both sexes. Hermaphrodites can have femenine or masculine appearance.

7.Fibrodysplasia ossificans

Frequency: 200-300 documented cases around the world. This anomaly is often undiagnosed. It is estimated that one case appears in two million births.

Description: Any small injury to connective tissue (muscles, ligaments, and tendons) can result in the formation of hard bone around the damaged site. Children are born with a characteristic malformation of the great toes and begin to develop heterotopic (extra)bone formation during early childhood. Eventually, a second skeleton begins to form that severely restricts mobility.In many cases, injuries can cause joints to become permanently frozen in place. The growths cannot be removed with surgery because such removal causes the body to “repair” the area of surgery with more bone.

6.Ondine’s curse (Congenital Central Hypoventilation Syndrome)

Frequency: Between 200-300 well-known cases all around the world. For being cause of

sudden death it is thought that the well-known cases are only the tip of iceberg and that, in fact, 1

baby of each 200,000 which they are born could have this disease.

Description: In slightest forms of Ondine’s Curse, the patient will be able to continue living but, because of unrestful sleep by the lack of oxygen, during the day he will be sleepy, gotten tired easily. He will have headaches, increase of the red cell levels…

The most serious forms, in which to sleep means a certain death, usually appear from the birth, and most of newborns die without knowing the cause. Nevertheless, in those people in which the disease has gotten worse progressively and get to risk life whenever they sleep, it is usually treated with assisted ventilation during the night.

5.Proteus Syndrome

Frequency: At the moment, 200 documented cases all around the world. It seems that a case apperars by more of a million births.

Description: Exists a gre

at amount of cutaneous and subcutaneous malformations,

with hyperpigmentation, vascular malformations and irregular growth of bones. Partial gigantism of the limbs and the excessive growth of the fingers whereas some zones of the body grow less that what they wou

ld have. All of this causes an extreme disfigurement of the person who oftehn are socially. Josep Merrick, the fam

ous “Elephant Man”, suffered from this syndrome.

4.Progeria (Hutchinson-Gilford Syndrome)

Frequency: Around 100 documented cases. It seems that appears a

case of progeria by each 8 million births, although could be greater since it isn’t diagnosed many times.

Description: People with progeria age very quickly from the childhood. When they are newborns they have a totally n

ormal appearance but they are growing more and more slowly that the other children and develop a very characteristic face expression. The lose their hair, acquire wrinkles and suffer a severe damage on the arteries (atherosclerosis) that cause the death in the first years of adolescence.

3- True Human Tail (Vestigial Tail)

Frequency: Around 100 documented cases all around the world.

Description: It is observed the presence of a vestigial tail in the final zone of the sacral bone. This tail is compound of conective tissue, muscles, blood vessels, nerves, skin, verte

brae and cartilage.

2.Parasite Twin (Fetus in Fetus)

Frequency: Around 100 documented cases around the world.

Description: When the host fetus i

s able to survive the childbirth, this one can show a swelling up in the zone where the parasitic fetus locates itself. 80% of times, they are in the abdominal region, but also in skull, sacral region, scrotum… It can grow unnoticed, at the beginning. Later, the parasitic fetus will continue to grow at the same time the host does.

When making imaga tests, the organs are observed in places where the wouldn´t have to exist. Although tiny legs, arms, fingers, hair or any other element of the fetus can be seen if he has developed them. There aren´t two

equal cases of fetus in fetus, since parasitic fetus can locate themselves in very different zones in host fetus and, therefore, the growth and elements that has gotten to develop will be variable. There are very developed parasitic fetuses and others that only have a little number of organs.

1.Human Werewolf Syndrome (Congenital Hypertrichosis Lanuginosa)

Frequency: 40-50 documented cases around the world from its discovery. The natural incidence (without counting the cases in families) is considered in a case between 1 billion or one by 10 billion inhabitants.

Description: People who suffer from it are completely covered in lanugo hair except in the palms of their feet and hands. The maximum hair lenght that has been documented is about 25 centimeters.

Lanugo is the thin and off-white hair that appears in newborn in their shoulders and arms and that normally disappears after the first month from the birth. In those who suffer from this syndrome lanugo persists and can grow forever or dissapear over the years.

Even so, in spite of all those treatments, any mistake to remain slept without the indicated oxygen therapy, will mean the death.


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