1. 1. Progeria
This genetic disorder is as rare as it is severe. The classic form of the disease, called Hutchinson-
Gilford Progeria, causes accelerated aging.
Most children who have progeria essentially die of age-related diseases around the age of 13,
but some can live into their 20s. Death is typically caused by a heart attack or stroke. It affects as
few as one per eight million live births.
The disease is caused by a mutation in the LMNA gene, a protein that provides support to the
cell nucleus. Other symptoms of progeria include rigid (sclerotic) skin, full body baldness
(alopecia), bone abnormalities, growth impairment, and a characteristic “sculptured” nasal tip.
Progeria is of great interest to gerontologists who hope connect genetic factors to the aging
process. Image: HBO.
2. Uner Tan Syndrome
Uner Tan syndrome is a somewhat controversial condition, whose most obvious property is that
people who suffer from it walk on all fours. UTS is a syndrome that was proposed by the Turkish

2. evolutionary biologist Üner Tan after studying five members of the Ulaş family in rural Turkey.
These individuals walk with a quadrupedal locomotion, use primitive speech, and have a
congenital brain impairment (including “disturbed conscious experience”). The family was
featured in a 2006 BBC2 documentary called, "The Family That Walks On All Fours." Tan
describes it like this:
The genetic nature of this syndrome suggests a backward stage in human evolution, which is
most probably caused by a genetic mutation, rendering, in turn, the transition from
quadrupedality to bipedality. This would then be consistent with theories of punctuated
evolution.
The new syndrome, says Tan, “may be used as a live model for human evolution.” Some experts
think this is bunk, and that genetics may have very little to do with it.
3. Hypertrichosis
Hypertrichosis is also called “werewolf syndrome” or Ambras syndrome, and it affects as few as
one in a billion people; and in fact, only 50 cases have been documented since the Middle Ages.
People with hypertrichosis have excessive hair on the shoulders, face, and ears. Studies have
implicated it to a rearrangement of chromosome 8. It happens due to a disruption of the
“crosstalk” between the epidermis and the dermis as hair follicles form in the 3-month fetus at
the eyebrows and down to the toes. Normally, signals from the dermis send the messages to form
follicles. As a follicle forms, it sends signals to prevent the area around it from also becoming a
follicle, which results in the equal spacing of our five million or so follicles. Most of our body
parts ignore the messages to form follicles, which explains why most of us are relatively hairless.

3. 4. Epidermodysplasia Verruciformis
Epidermodysplasia verruciformis is an extremely rare disorder that makes people prone to
widespread human papillomavirus (HPV) infection. This infection causes scaly macules and
papules (cutaneous squamous cell carcinomas) to grow on the hands, feet, and even face. These
skin “eruptions” appear as wart-like lesions — and even wood-like and horn-like growths
— with reddish-brown pigmented plaques. Typically, the skin tumors start to emerge in
people between the age of 20 and 40, and the growths tend to appear on areas exposed to the sun.
Also called Lewandowsky-Lutz dysplasia, there is no known cure, though treatments to scale
back the growths are possible.
The disorder was brought to the public’s attention in November 2007 when a video of a 34-year-
old Indonesian man named Dede Koswara appeared on the internet. In 2008, he underwent
surgery to have 13 pounds (6 kg) of the warts removed. After the lesions and horns were
extracted from his hands, head, torso, and feet, his hands were grafted with new skin. In all,
about 95% of the warts were removed.

4. 5. Severe Combined Immunodeficiency Disorder (SCID)
Also known as the Boy in the Bubble Disease, it’s a disorder in which individuals are born
without an effective immune system.
The disease was made famous by virtue of the 1976 film, The Boy in the Plastic Bubble, a story
inspired by the lives of David Vetter and Ted deVita. In the movie, a boy is forced to live in
plastic isolation for fear of exposure to unfiltered air and the introduction of life-threatening
pathogens. In real life, Vetter lived in this condition for 13 years, but he died in 1984 following
an unsuccessful bone marrow transplant (a failed attempt to help him fight infections).
And indeed, the disorder is caused by a number of genes, including those that cause defects in
both T and B cell responses — which has a downstream negative effect on the production of
lymphocytes (a type of white blood cell). SCID is also thought to arise due to the lack of
adenosine deaminase (ADA). Interestingly, SCID was the first human illness treated by human
gene therapy in 1990, and is increasingly being used to treat children. Image: Baylor College of
Medicine Archives.
6. Lesch–Nyhan Syndrome

5. LNS is a genetic disorder that affects one in every 380,000 births, nearly all of them boys. It
results in an overproduction of uric acid — a waste product of normal chemical processes that’s
found in blood and urine. But individuals with Lesch-Nyhan release excess uric acid through
their blood which builds up under the skin causing gouty arthritis. It can also cause kidney and
bladder stones.
The disease also affects neurological function and behavior. Individuals exhibit involuntary
body movements, like tensing muscles, jerking movements, and flailing limbs. Self-mutilating
behaviors are also common, including head banging, and lip and finger biting. Individuals can
be given allopurinol to help with the gout, but treatments for the neurological and behavioral
aspects of the disease remain out of reach.
7. Ectrodactyly
Formerly known as “lobster claw hand, ”individuals with this disorder have a cleft where the
middle finger or toe should be. These split-hand/split-foot malformations are rare limb
deformities which can manifest in any number of ways, including cases including only the thumb
and one finger (typically the little finger or little finger). It’s also associated with hearing loss.
Genetically speaking, it’s caused by several factors, including deletions, translocations, and
inversions in chromosome 7.

6. A 2007 ABC article featured Bree Walker, a television anchorwoman living in Los Angeles who
lives with the disease. Walker also appeared on the television show “Nip/Tuck” as a character
with ectrodactyly who helps a family with the disorder. Thankfully, surgical procedures can
correct some of these malformations.
8. Proteus Syndrome
In conjunction with neurofibromatosis type I, this is the disease that likely afflicted Joseph
Merrick, the so-called Elephant Man. It’s a condition in which bones, skin, and other tissues are
overgrown. Individuals typically have organs and tissues that grow out of proportion with the
rest of their body, and because the overgrowth varies and exhibits no apparent order, it can result
in strange and imbalanced features. Signs of the disorder don’t usually appear until about 6 to 18
months after birth. The severity of proteus syndrome varies from individual to individual, and it
occurs in less than one in one million people. And in fact, only a few hundred documented cases
have ever been reported.
The disorder results from a mutation in the AKT1 gene (which regulates cell growth), causing
mosaicism; as cells grow and divide, some cells exhibit the mutation while others do not. The
resulting mixture of normal and abnormal cells is what causes the overgrowth.
1.

7. 9.Cyclopia
This birth defect doesn’t allow the orbits of the eyes to separate into two cavities. These
occurrences happen in every 1 in 250 babies. The face will be missing or the nose will be non-
functioning and that nose will either be above the eye or on the back of the head. Most babies
will not make it to birth or they are still born. There are two cases of children with Down
Syndrome that have been born with one eye. This is often caused by genetic problems or toxins
ingested by the mother.
10.Tree Man
This man has hands and feet that look like contorted tree branches. For 20 years, he has lived like
this. He has warts all over his body that look like the moss that forms on trees out in the forest.
The growths on his body make up over twelve pounds of his weight and he only weighs 100
pounds. After only a few steps he would become tired because of the density of the growths. It is
believed that this defect was caused by an HPV virus. There are two types of HPV. The first one
can cause cervical cancer and the other can cause warts on the skin. This is what the doctor’s feel
he has. The warts started to appear after he received a cut on his skin as a teenager. It has become
out of control since then. The skin has infections happening and bugs living in his skin. He has a
weak immune system and the virus took over because of it.

8. 11.Mermaid Syndrome
This is when a child is born with his or her legs fused together and it gives the impression of a
mermaid’s tail. One out of every 100,000 births are said to have this birth defect. The babies
born with this defect will die within a day or two because of complications in the development of
their bladders and kidneys. There are only a handful of births that did not have the complications
that came along with this condition. Three of the most well know cases are Milagros Cerron,
Tiffany Yorks and Shiloh Pepin.

9. 12.Werewolf Syndrome
This birth defect or genetic mutation has to do with the hair on the person’s body growing to a
substantial amount over every inch. This can be seen at birth, when the child is born covered in
hair. If the infant is tested and does not suffer from hypertrichosis, then the hair will be shed over
the next few years. The acquired type of gene forms over the years and can refer to extra hair
growing in places that hair hasn’t grown before. The congenital form of this disease is more
commonly used as the werewolf syndrome because of thickness and the amount of hair formed
over the person’s body. These are the type of people that get used in the circuses as sideshow
“freaks” as the wolf-man.