Archive for the ‘EVOLUTION’ Category


Friday, December 5th, 2014

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1…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 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.

2… 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.

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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… Epidermodysplasia Verruciformis

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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. Proteus Syndrome

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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.

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.

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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

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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… Progeria

This genetic disorder is as rare as it is severe.

The classic form of the disease, called Hutchinson-Gilford Progeria, causes accelerated aging.

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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.

8…Horned woman


101 Years Old Horned Woman

Zhang Ruifang, now 101 years old of Linlou Village, Henan Province, China, began developing a goat-like horn on her forehead in2009.

9…Tears of Blood


Indian Girl with Tears of Blood

Twinkle Dwivedi, 14 years old of India, had this rare disease of excessive bleeding coming out from her eyes, hairlines, nose, neck and sole of her feet. She bleeds 50 times a day resulting from loss of blood and have her blood transfusion everyday. She bleeds excessively without any wounds or injury.

10..Eight-Limb Child


Lakshmi Tatma born in India with eight limbs and believed to be a reincarnation of Hindu goddess Vishnu. But some medical team believed that the child was born with joined parasitic twin and have to undergo a surgery under 30 surgeons to remove two of her useless arms and legs.

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Henry Sapiecha