Top 10 Most Bizarre Genetic Mutations in Humans

These diseases may sound like fiction, but these are all real! Check out 10 most bizarre genetic mutations in humans…

10 – Marfan Syndrome


By Staufenbiel I, Hauschild C, Kahl-Nieke B, Vahle-Hinz E, von Kodolitsch Y, Berner M, Bauss O, Geurtsen W, Rahman A ( [CC BY-SA 2.0], via Wikimedia Commons
Marfan syndrome is a disorder of the body’s connective tissues, a group of tissues that maintain the structure of the body and support internal organs and other tissues.
Typical characteristics of Marfan syndrome include:being tall, abnormally long and slender limbs, fingers and toes,heart defects.

09 – Uner Tan syndrome


This is a controversial condition,whose most obvious property is that people who suffer from it walk on all fours. UTS is a syndrome that was discovered by the Turkish 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.

08 – Hypertrichosis


Hypertrichosis is also called “werewolf syndrome”.Only 50 cases have been documented since the Middle Ages. People with hypertrichosis have excessive hair on the shoulders, face, and ears. Studies associate it with a rearrangement of chromosome 8.

07 – Epidermodysplasia verruciformis

Epidermodysplasia verruciformis

This disorder is extremely rare and it makes people prone to widespread human papillomavirus (HPV) infection. This infection causes scaly macules and papules to grow on the hands, feet, and even face.They are wart-like lesions and sometimes even wood-like and horn-like growths.

06 – Severe Combined Immunodeficiency Disorder (SCID)

**FILE** David Vetter poses inside of his bubble in his Houston home in this Dec. 17, 1976 file photo.   Vetter was born with a genetic disorder leaving him no natural immunities against disease.  The disorder, known as Severe Combined Immune Deficiency Syndrome (SCID), became known as "Bubble boy Disease", so named because of Vetter.   (AP Photo/File)

Also known as the “Boy in the Bubble Disease”, it is a disorder in which individuals are born without an effective immune system.Victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, have become famous for living in a sterile environment.

05 – Lesch–Nyhan Syndrome

Lesch Nyhan Syndrome

This genetic disorder affects one in every 380,000 births, nearly all of them boys. It results in an overproduction of uric acid.Those affected suffer from kidney and bladder stones. The disease also affects neurological function and behavior.Self-mutilating behaviors are also common, including head banging, and lip and finger biting.

04 – Ectrodactyly


Formerly known as “lobster claw hand, individuals with this disorder have a cleft where the middle finger or toe should be. These malformations are rare limb deformities which can have different manifestations. It’s also associated with hearing loss.

03 – Proteus Syndrome

Proteus Syndrome

By UnknownI (User:Belovedfreak) have emailed the Royal London Hospital Archives to request information regarding the author. The Trust Archivist for Barts and The London NHS Trust has confirmed that they do not know the name of the photographer, and no such name is included on the carte de visite. [Public domain or Public domain], via Wikimedia Commons
Proteus syndrome is very a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently.

02 – Trimethylaminuria


Trimethylaminuria is a weird genetic disorder that causes a strong body odour usually described as like rotting fish, faeces or garbage.The odour is created when the body isn’t able to process trimethylamine. This is a smelly chemical that’s produced in the gut, particularly when certain choline-rich foods are digested.

01 – Progeria


By See Source [CC BY 2.5], via Wikimedia Commons
This genetic disorder is very rare and severe. The classic form of the disease, called Hutchinson-Gilford Progeria, causes accelerated aging. The disorder has a very low incidence rate, occurring in an estimated 1 per 8 million live births. Those born with progeria typically live to their mid teens to early twenties.

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