Rare Genetic Mutations That Can Be Found In Nature

Snakes with feet, human frog faces, two-faced animals, altered plants, stinky fish disease and more. What on Earth is going on? Turns out, these are some rare genetic mutations that seem quite shocking to us.

Rare genetic mutations happen in humans, animals, and plants all around the world. Historically, humans and animals suffering from genetic mutations used to be labeled monsters or freaks. But today, we have a better understanding about gene mutations and how evolution occurs.




Changes in the genetic makeup are mostly naturally-occurring. It can happen during cell division, or due to exposure to specific chemicals. Even radiation can cause a change in the genetic makeup, thus leading to mutations.

Causes of genetic mutations

Genetic mutations are part of the evolution process in species. When they are useful to the species, like to adapt to a certain environment, they will continue on. Others are not useful at all, and will not make it any further.

What are the causes that can change the genetic makeup?

DNA fails to copy accurately

When a cell divides, it makes a copy of its DNA. But sometimes it is not exactly the same as the original. The small difference from the original DNA sequence is a “naturally-occurring” mutation. See here how scientists accidentally created a mutant enzyme that might combat ocean pollution.

Outside influences

Exposure to specific chemicals or radiation can also cause mutations.

They cause the DNA to break down. Which is not necessarily unnatural, because even in the most isolated and pristine environments, DNA breaks down.

When the cell repairs the DNA, it might not do a perfect job of the repair. So the cell could end up with DNA slightly different than the original DNA and a mutation occurs.

Now, that we have a bit more understanding about what causes mutations, let’s have a look how that plays out. Here are some examples.

The snake with one foot

Mutations in snakes such as growing one or more limbs and feet are not as rare as one might think. It is also not a new mutation, but rather a leftover gene from long ago.

Atavism is a phenomena of a genetic trait that exists in the ancestors, and then shows itself in the new species again.

Some snakes have the remains around their hips.  And some also have vestigial remnants of limbs around their cloaca.

All snake genomes contain the DNA needed to produce a limb. Therefor, such mutations can occur with a little help of the genes which determine the body’s structural plan.

The Cyclops

If you read the Greek myths, then you are familiar with the Cyclops. The one-eyed giants. Turns out these mythical creatures do exist. Genetic mutations in which the animal or human only has one eye in the center are called Cyclopia.

It occurs during development in the womb when the two hemispheres of the brain fail to separate. Thus the formation of a single central cavity with one eye, or sometimes fused eyeballs.

Accelerated aging

Progeria is a genetic disorder as rare as it is severe. Children born with it age at a much higher rate than healthy children. Most children with Progeria die at around age 13 of age-related diseases.

 Frog baby

Some mutations can change the appearance of a species to look like a different one. Like babies born with Anencephaly. Their brains are underdeveloped and their skulls incomplete. Which gives their faces the appearance of a frog’s face.




Only approximately three in 10,000 babies have Anencephaly. However, after parents give birth to one child with Anencephaly, the percentage of having another child with this condition increases, and every child thereafter.

A baby born with Anencephaly might be stillborn, or survives only a few hours to a few days after birth.

Witch’s broom

Mutations don’t just affect animals. They can also be observed in plants and trees. Like the Witch’s Broom. It is an unusually dense and compact cluster of twigs and foliage growing on a woody plant. The mass of shoots comes from a common point, and gives the growth a broom-like appearance.

The causes can be a number of factors. Examples are infections by fungi or phytoplasmas, and infestations of mites or dwarf mistletoe. Even adverse environmental conditions or genetic mutations may be the cause of witch’s broom.

Ghost trees

There are only about 400 albino redwood trees. They grow in the middle of deep-green ones in California. Some of them are pure white, while others are more yellowish. Some “chimeras” even have leaves that are half green and half white.

The white plants grow out of healthy redwoods. They are white because of a genetic mutation that leaves them without chlorophyll, which is the pigment that makes plants green.

The ghost trees are drawing away and storing pollution, that otherwise can degrade or kill redwoods. Similar to a liver or kidney that is filtering toxins.

Blue lobsters and other variations

Blue lobsters are extremely rare. About 1 in 2 million lobsters are blue.

Some variations are even rarer. Some lobsters have the colors split down in the middle. There is also a chance of 1 in 30 million that a yellow lobster will be born.

Their rare color comes from a genetic mutation. It causes a greater production of a certain protein than that of others.

 Two-faced

Diprosopus, aka craniofacial duplication, is an extremely rare congenital disorder.

Either just parts or all of the face are duplicated on the head. It is the result of abnormal activity by a protein.

 Henry the first hexapus to be documented

Henry is a product of genetic mutation. He comes from the coast of Wales and resides at Blackpool Sealife, a British Aquarium.




Usually octopuses have 8 tentacles, and they are capable of regrowing them if they ever get cut off. But Henry does not have any space in between his tentacles to allow more to regrow.

 Tree man disease

Epidermodysplasia verruciformis is an extremely rare, autosomal recessive inherited skin disorder.

Characterized by abnormal susceptibility to human papillomaviruses of the skin resulting in uncontrolled HPV infections. This, in turn, results in the growth of scaly wart-like lesions. They mostly appear on hands and feet, but also on the face, neck and body.

The lesion can grow into horn-like and wood-like growths resembling tree bark. Thus the name “tree man disease”.

The cause is an inactivating PH mutation of certain genes. These genes play a role in regulating the distribution of zinc in the cell nuclei.

 The most bizarre and rarest of rare genetic mutations – Stinky fish

Trimethylaminuria, is a disorder known as Fish Odor Syndrome. It causes affected people to give off a strong odor in their sweat, urine, and breath.

Trimethylamine is a chemical compound. It is contained in sweat, urine, breath, and other bodily excretions. Unless broken down, it has a pungent smell like rotting fish, rotting eggs, garbage or urine.

Individuals with Trimethylaminuria cannot break down trimethylamine. As this compound builds up in the body, any secretions will contain a strong odor.  The intensity of the odor may vary over time.

This genetic disorder is so rare that its rate of incidence is not even known.

Uncombable Hair Syndrome

How about being born with having a bad hair day for the rest of your life?

Uncombable Hair Syndrome is very rare and so far, only found in 100 people around the world. It happens when the baby inherits two copies of a gene mutation (one from each parent) that changes the shape of the hair shaft.




People born with this syndrome have uncontrollable silvery-blond or straw-colored that stands up in the air. Luckily the condition often spontaneously regresses in later childhood.

Mosaic Genome-Wide Uniparental Isodisomy

Uniparental isodisomy can result in human disease as a result of loss of one parent’s allele(s) in an imprinted region or unmasking recessive disease-causing mutations.

People born with this rare genetic condition may have inherited all sorts of abnormalities and even cancer.

It causes uneven body parts. For example one cheek could be fuller than the other, or one leg bigger and longer than the other. Or dysmorphic facial features like in people with Down-Syndrome. And that’s just what can be observed from the outside.

Most babies either at birth or at a later stage can have a number of health problems coming from inside. Cancer, murmurs, respiratory, just to name a few.

The gene mutations cane come from either parent, but is mostly seen to be paternal.

Genome-wide paternal ((maternal) uniparental isodisomy shows itself as a mosaic blend of paternal or maternal  uniparental and biparental cell lineages.

The human genome is made of 23 sets of chromosomes. Each set contains two copies of DNA, one from each parent. But in these cases, two copies only one parent, most times the father’s, are created.  It can happen with any one of the sets or even more. In extremely rare cases it can occur almost throughout the entire set.

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