When we think about “people,” we tend to have rather strict notions of what they should be like. We assume they would have one head, two legs, two arms, five fingers, etc. However, there are people who don’t fit those principles but are definitely still human like us! Sure, we’ve seen it on the internet before, but how can we know if it’s real or fake? So, without further ado: ten rare mutations that challenge our definition of human, with the research that proves it!

10. Anencephaly

While we might see an article about “Frogs” and think it’s definitely a hoax, the only misleading part of this rare condition is the imprecise terminology used to describe it. It. It. This condition, called encephalopathy, is a neural tube disorder. During the third to fourth week of pregnancy, the neural tube closes and forms the brain and spinal cord. For children with anencephaly, the neural tube does not close completely, causing the brain to come into contact with amniotic fluid, causing nerve tissue degeneration. The brains of newborns with anencephaly are often missing parts of the skull, brain and cerebellum, causing them to be blind, deaf and unable to stay awake. Babies with this disease are often stillborn or die within a few weeks.

Anencephaly is quite rare. Only about 3 in 10,000 babies are born with this disease. However, after parents have one child with anencephaly, the rate of having a second child with the disease increases to 3-4%, and after two children with the disease, the rate increases to 10-13%. Hispanic mothers are more likely to give birth to children with anencephaly, although scientists cannot determine the cause. Encephalopathy is associated with B9 or folate deficiency. Supplementing with folic acid, the synthetic version of folate, can reduce the risk of the disease by about 50%. Encephalopathy can be identified during pregnancy through imaging, excess fluid in the amniotic sac, or excess alpha-fetoprotein. There is no cure for anencephaly.

9. Capacitance

We again use an animal to explain this syndrome. Commonly known as “lobster claws” and sometimes found online as “ostrich legs,” ectrodactyly is completely real. Caused by mutations in chromosomes 10, 7, 3 or 2, this X-linked condition results in “split” of the hands and feet. There are two main types of ectrodactyly. Type one is characterized by the lack of a middle digit and a large cleft in the middle of the limb. Webbing may be present between the digits. In type two, there is only the fifth digit and no space. Sometimes both types of cases can be found in one family. This condition has both syndromic and non-syndromic manifestations, but in contrast, life expectancy and intelligence in people with finger deformities are normal.

This is primarily an autosomal dominant genetic disorder, meaning that only one mutated gene is needed to transmit the disease. There is a 50% chance of an individual passing on the mutated gene to a child, regardless of that child’s gender. However, there are also reported cases of autosomal recessive disease. The condition affects about 1 in 18,000 people diagnosed at birth, and X-rays can provide further insight into the individual manifestations of the disorder. Reconstructive surgery is offered in appropriate cases and prosthetics can improve function for people with finger deformities.

8. Verruciformis epithelial dysplasia

Although sometimes called “Tree Man Disease,” Epidermodysplasia verruciformis (EV) actually has nothing to do with trees. EV is a very rare autosomal recessive skin disorder, meaning that both parents must be carriers for the condition to appear.

About 10% of EV manifestations occur in children due to marriage between blood relatives. Manifestations often appear in childhood, with 7.5% of cases in young children, 61.5% in children aged 5-11 years and 22.5% in puberty. This condition appears to occur equally across genders and races.

Epidermodysplasia verruciformis appears as skin lesions caused by HPV or human papillomavirus. The immune system of a person with EV cannot cope with the infection and lesions appear on the skin. These lesions may be flat and pale pink to purple in color, called papules, or they may coalesce and become reddish brown and scaly, known as plaques. Papules are most commonly found on the hands, feet, face, and earlobes, while plaques are more common on the midsection, neck, and limbs. However, anywhere on the body can be affected. When these lesions are exposed to sunlight, they can become cancerous. Depending on the type of virus a patient has, they may be more susceptible to the disease. Many treatments have been tested and it has been found that removal of the lesions is more effective than oral or topical treatments. Surgical excision is also an option. Currently, there is no preventive treatment for EV.

7. Bisexual

Diprospus disorder or craniofacial duplication is a rare condition that causes duplication of the face and sometimes the frontal lobes of the brain. The condition is thought to be caused by a protein with the unusual name sonic hedgehog homolog, which has a corresponding gene. Sonic hedgehog proteins are responsible for signaling to cells the proper formation of limbs and organs during embryonic development; The cause of diprosopus is believed to be related to the face and brain.

This condition also shows that the twins are bilaterally conjoined (twins that are identical but not completely separated). The twins have an almost complete fusion of their bodies with one set of limbs. Part or all of the face is duplicated. This condition often leads to stillbirth. There are currently only about 36 cases of this rare gene mutation. Having too little of the sonic hedgehog protein can cause another condition on this list.

A notable recent case in humans occurred in the United States in 2004. Tres Johnson celebrated his 13th birthday in 2017. His case was unusual because he reached this age immediately. ie. even after doctors told his parents he would not move on to the next stage of his life. His life. In India in 2008, a baby girl named Lali Singh was born with two complete faces – two identical faces, on one body – and she became a media sensation in the small village where I live. . Sadly, two months after giving birth, she died of a heart attack.

Diprosopus occurs in animals as well as humans. Cats with diprosopus do not live long due to associated health problems, but cats named Frank and Louie overcame all odds and now have a place in the 2012 Guinness World Records book. Cats with this disease are often called Janus cats after the Roman god with two faces.

6. Polymelia

Although we sometimes wish we were born with an extra arm, people who are actually born with an extra arm often wish they didn’t have one. Polymelia is a syndrome in which people are born with extra lower limbs. The accessory limbs, as they are called, are often incompletely formed. However, they often have bones and blood in them. Although this condition is common in animals, it is very rare in humans. There are very few reported cases.

There are many ways to classify the disease based on the location of the accessory limb. In Cephalonia, the accessory limb is located on the head, while in notomelia it is attached to the spine. In thoracomelia, it is attached to the thorax, and in pyromelia, the accessory limb is attached to the pelvis. Polymelia of any type can be caused by thalidomide or hormone medications. The development of accessory limbs can be detected as early as the 4th or 5th week of embryonic development. Polymelia can also occur due to incomplete separation of twins. Surgery may be performed to remove extra limbs.

5. Progeria

When old people say they feel like they were just a child yesterday, they are speaking figuratively. However, people with progeria, which is Greek for “premature old age,” take it literally. Progeria is a fatal disease with aging symptoms when the patient is two years old. On average, they die of heart disease at the age of fourteen.

Progeria causes accelerated aging in children and is marked by certain physical characteristics. Typically people with progeria have prominent eyes, a small chin, a small nose, and large ears. They also tend to have skin, bone, heart problems and lose the layer of fat underneath the skin. Progeria does not affect motor skills or intelligence.

Progeria is estimated to occur in approximately 1 in 4-8 million newborns. There is no cure for progeria, but there are symptomatic treatments. Dietary changes and exercise help address lipid abnormalities and shoe cushioning to increase walking comfort. A variety of cardiac treatments may be performed, depending on the condition that develops. Nitroglycerin is often prescribed. Therapy can also help joints. You should use sunscreen to avoid skin conditions.

4. Proteus

People with proteus are truly one in a million. Proteus is a rare overgrowth condition that affects bones, skin, organs, and other tissues. People with Proteus disease often form benign tumors. It affects people asymmetrically, meaning it may not affect both sides of the body in the same way. Veins and blood vessels can also be affected, and people with Proteus disease are susceptible to a type of blood clot called DVT. This can cause pulmonary embolism, which is the most common cause of death in people with Proteus disease. In certain cases, people with proteus may have intellectual disabilities or be prone to seizures. These people often have certain physical characteristics such as a long face, the outer corners of the eyes pointing downward, and wide nostrils.

People with proteus may also develop lesions. Sometimes a rough, dark lesion may be present at birth or a lesion made up of thick, firm skin with grooves or furrows may develop, especially on the feet, but sometimes is in the hand. Proteus can also cause tumors such as bilateral ovarian cysts, monomorphic adenomas, meningiomas or ocular tumors and cysts. Crossed eyes are also a possible side effect of proteus. Abnormally large organs can cause kidney or urinary abnormalities.

Proteus is not a genetic disease, nor is it influenced by the environment. Instead, cells develop mutations in the ATK1 gene during the first few weeks of development. This gene controls cell growth, division, and death. When that cell divides rapidly to form new cells, the mutation spreads in a pattern called “mosaic.” This means it only affects parts of the body at random. Typically, the newborn will appear completely normal and the overgrowth will develop on its own between 6-18 months from birth. Proteus is very sporadic and does not appear to follow a family history. Siblings of people with proteus disease also have only a 1% chance of having the disease, and parents with proteus disease have never inherited the disease.

3. Sirenomelia

Although we are familiar with the fictional image of mermaids, people born with so-called mermaid syndrome do not fit the fish stereotype. Actually called sirenomelia, mermaid syndrome occurs when a child is born with only one lower limb. Sirenomelia is extremely rare, with only 300 cases reported in the literature. Of those 300 cases, 15% were identical twins and 22% were born to mothers with diabetes. It is estimated that sirenomelia appears in about 1 in 60,000 to 100,000 births. It has been reported in all ethnicities and is more common in men, with a male to female ratio of approximately 2.7:1. Most people with sirenomelia die in childhood, but some have lived into adulthood thanks to reconstructive surgery.

Sirenomelia is suspected to be multifactorial, meaning that both genetic and environmental factors may contribute to the condition. In some cases, only one artery is missing and two arteries branch from the aorta and carry blood to the lower or caudal part of the embryo. This leads to a lack of nutrients in the lower part of the embryo, causing the embryo to develop poorly. Sirenomelia is also more common in children of mothers with diabetes. About 22% of babies with sirenomelia have mothers with diabetes. Children with sirenomelia also often have spinal and gastrointestinal problems. Their lungs may also be underdeveloped, which is a common cause of death in people with this condition.

There are seven types, each classified according to the development of the lower limbs. Type one people have all the necessary bones for their legs and only skin connecting their limbs. The remaining types get progressively worse, with type seven having only a single bone in the “leg”.

2. Recently

Many of us have heard of cyclops, whether from Oddessy or another literary work. It is believed that when these monsters were first written about, they were based on a very rare condition that is now named after them, cyclopia. Cyclopia is diagnosed when someone is born with one central eye or two adjacent eyes. Typically, they will not have a nose but will instead have a similar structure above the eyes. It occurs in only 1 in 100,000 people. Cyclopia is classified as alobar generalized encephalopathy, the most severe of the three types. Using ultrasound and ultrasound, Cyclopia can be diagnosed prenatally. Most newborns with Cyclopia have miscarriages or are stillborn. Those born alive will die shortly after birth, as Cyclopia and its related conditions are fatal.

1. Multi-head disease

What if we had to share our bodies with others? People with polycephaly or two heads know exactly what it’s like. Polycephaly is a severe case of conjoined twins, occurring sporadically in only 1 in 50,000 to 200,000 pregnancies. Whether or not twins have polycephaly depends on how completely the twins separated and whether they later reunited. They are often considered two individuals, but they often share the same major organs and each has control over only half of the limbs. In humans, people with polyencephaly may have enough coordination to walk, run, and even drive. Sometimes the head becomes parasitic and doesn’t do much good. Surgical removal of the parasitic head appears to be ineffective, and most people with such polycephaly do not survive.

Alex Raines is a college student in Iowa who enjoys writing, especially about topics she can learn about. She was diagnosed with her own rare disease in 2016 and her heart goes out to all those with terminal illnesses.

Facts verified by Jamie Frater