Genetic mutations can be life-altering and make a person’s appearance unique. A user asked the forum, “What’s the rare genetic mutation you have seen in a person (eye color, extra appendages, etc)?” Here are the top responses. 


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“I met someone who had coloboma. The person’s pupils made his eyes look like a snake’s.”


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“A boy I went to elementary school with had webbed hands and feet, and one of his pinkies was much shorter than the others, about half the size.

He eventually had surgery to remove the webbing. It worked, but had scarring on all his fingers and toes and that wasn’t exceptionally comfortable at first.”


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“My son (11) is a chimera. He absorbed his non-viable twin brother in utero and has two sets of DNA (Deoxyribonucleic Acid). This possibility was discovered by CVS (Chorionic Villus Sampling), which was recommended to me because my blood test results were abnormal. Postnatal PCR  (Polymerase Chain Reaction) testing confirmed the chimerism.

We don’t know which cells have which set of DNA. For example, his liver can have its location and his twin’s skin. He has no outwardly visible signs of chimerism but is ambidextrous, which is common in human chimeras.

Chimerism doesn’t cause health problems. If undiagnosed, it could cause false negatives in paternity testing. My son thinks it’s cool that he’s his twin.”


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“I had a student who had a spider hand. Like eight fingers on the one hand, four mirrored. It was cool, but he was bad at typing.”


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“My son has a genetic mutation that is, essentially, a mirror image of the transformation that causes some people to feel no pain. Those people have a loss of function mutation; he has a gain of function, so in his case, instead of being able to walk through fire and feel nothing, he feels fire when doing things as minor as putting on socks.

His genes, and those of others like him and the genes of the pain-free cohort, are being studied as targets for a new generation of non-opioid pain medications.”


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“I had an albino girlfriend. Amazing looking with white hair, skin so white it was pink due to the blood vessels underneath, eyes so pale blue they were almost white. She wasn’t a nice person after all, but amazing looking.” 


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“My paternal grandma had violet eyes. They were incredible to look at, and I can only imagine how many men were tripping over themselves when she was a young woman because she had jet-black hair. 

It was unique because her mom was Swedish, and her dad was German, and I don’t think any of her five siblings had eyes like that.”


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“Me and my biological father share a mutation that gives us abnormally high bone density. Normally, high bone mass is a feature of some bad medical conditions, but in our case, it seems to genuinely just be super dense bones.”


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“I had a girlfriend who was born with no fingernails. She was an advanced piano player. Good on her, I say.”


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“Trisomi 13. She was born without eyes, with extra toes and missing fingers. The doctor estimated this person would not make it to their 1st birthday. They died at 13 years eight months old.”


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“I knew a kid in school who had 12 fingers. He had an extra fully functioning pinky on each hand. Interestingly, it was a pinky and not some other random finger, and he had two pinkies on each hand, not two ring fingers and a pinky. They worked fine and didn’t cause him any discomfort. I hope he grew up to play piano or guitar.”


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“My brother has a mirror image heart; it’s healthy and causes no issues, but it’s on the wrong side.”


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“I have uterus didelphys; I was born with a vaginal canal that splits off into two separate vaginal canals, leading to two cervixes and two uteruses. I have to get two pap smears for my yearly gynecologist visit.”


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“I babysat twins when I was a teenager, and one of them has an extra finger between his thumb and index finger. They fused it with his thumb, so he has one absolute unit of a thumb and kept pinching his brother with it.”


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“My best friend can hear dog whistles due to some mutation in her ears. She can make out a conversation across the din and space of a crowded restaurant.”


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“Hypertrichosis (werewolf syndrome), the man’s face was fully covered in hair.”


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“Cat eyes. She had cat eye-shaped pupils.”


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“Metachromatic Leukodystrophy (MLD). The child went from being normal to not walking, not crawling, not moving and passed away. Towards the end, they looked disabled. It was so hard to watch.”


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“It’s not visible, but I have two children with cystic fibrosis! My son was diagnosed when I was seven months pregnant with my daughter. They have one mutation that came up on the newborn screen (we thought my son was just a carrier) and one mutation only 300 people in the database have. They are the only two people known to have their combination of mutations (R117H – 7T and E60X).”


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“I have a mutation that can cause missing teeth, amongst other issues. I only have 16 permanent teeth instead of 32. The ones I have are distorted and weird. It also causes you to be more likely to have colon cancer and other cancers.”

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This article was originally published on Mrs. Daaku Studio.

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