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The most strange anomalies in medicine, all of them are rare diseases with bizarre

signs and symptoms. Some of them have already been described in MedTempus. I
indicate so with links. They are ordered from greater to smaller frequency.

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.

Cause: Recently discovered. It is caused by a


mutation in a gene implicated in the synthesis of a
type of sodium channel which is mainly located in
neurons associated with the reception and
transmission of pain stimulus.

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.

Cause: Unknown. Nobody knows if those that are affected in


the origine of the disesase are nerves, brain stem or muscles.
Many and varied hypothesis but without proofs that confirm
them.

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.

Cause: Hermaphrodites are chimeras. It is caused by the fusion of two zygotes of


differente sex. That is to say, a first spermatozoid would fertilize a ovum and, later,
another spermatozoid would fertilize another ovum. The zygotes that would be
formed and that were destined to being twins, end up fusing and becoming an only
individual that, genetically, is woman and man at the same time. It is unknown why
that fusion of zygotes takes place.

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 progressiva

Frequency: 200-300 documented cases


around the world. This anomaly is often
undiagnosed. It is estimated that one case
appears in two million births.

Cause: Unknown. It is a disease with


autosomal dominant inheritance. Several genes
in charge to synthesize bone growth factors are
implied.

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.

Cause: Partially known. The main cause is one or


several mutations of PHOX2B gene with
Autosomal Dominant Inheritance. The
mechanisms of the involuntary breathing do not
work properly. When sleeping, the chemical receptores that receive signals (low
oxygen or the increase of carbon dioxide in blood) do not get to transmite the
necessary nervous signals so that the breathing occurs.
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.

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

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.

Cause: Unknown. Authors defend that it is probably


caused by a somatic mosaicism of a lethal dominant
gene. Other authors suggest that it is caused by a
recombination in the embryo, giving rise to three types of
cells: Normal cells, cells of minimum growth and cells of
excessive growth.

Description: Exists a great 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 would have.
All of this causes an extreme disfigurement of the person who oftehn are socially.
Josep Merrick, the famous “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.

Cause: Partially Known. Most of the cases of progeria take place by mutations of
autosomal dominant inheritance in LMNA gene. This gene participates in the
maintenance of nuclear stability and the organization of chromatin. It could also take
part in the regulation of genetic expression, synthesis and repair of DNA

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

Cause: It isn´t well known. Some scientists think it is


caused by a mutation of the genes that produce the
cellular death that were detined to create a tail.

Description: It is observed the presence of a vestigial


tail in the final zone of the sacred bone. This tail is
compound of conective tissue, muscles, blood vessels,
nerves, skin, vertebrae and cartilage.

2-Parasite Twin (Fetus in Fetus)

Frequency: Around 100 documented cases around the world.

Cause: It is a exaggerated case of siamese twins. Two twins don´t get to separate
completely when they are zygotes and they are united by some zone. One of these
twins grows healthy whereas the other degenerates, remaining inside the healthy twin
and depending completely on him. It is unkown why these twins don´t separate
correctly.

Description: When the host fetus is 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, sacred 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.
Cause: Unknown. Some scientists state that it is caused by a mutation with
autosomal dominant inheritance. The majority is caused by familiar inheritance and,
very rarely, the mutation occurs spontaneously.

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.