Weirdly Interesting The Rarest And Most Gruesome Genetic Diseases Known To Science  

Eric Vega
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The genetic lottery can deal out some pretty harsh prizes and some people are dealt horrible hands completely at random. Your genes have a crazy amount of control over your life, and having a couple go haywire can cause some of the most bizarre and horrifying effects known to man. Weird genetic traits and rare diseases may not be common, but the side effects can be so gruesome that they become infamous after a single case. 

Uncommon genetic disorders can happen to anyone, even with all of the amazing wonders that modern medicine can perform. Some of the worst sicknesses to have are ones that can’t be cured, and those are often the scariest diseases. Scientists have done a lot of research into what makes these atrocious abnormalities arise in otherwise healthy humans, but there are still some illusive diseases that science can’t explain. Read on to discover some of the rarest, deadliest, and most gruesome genetic diseases and conditions that have ever afflicted humankind. 


Fibrodysplasia ossificans prog... is listed (or ranked) 1 on the list The Rarest And Most Gruesome Genetic Diseases Known To Science
Photo:  Joh-ko/Wikimedia Commons

The unfortunate people who develop this disorder undergo one of the most gruesome metamorphoses imaginable. Their bodies began to spontaneously ossify, meaning that soft tissues like muscle and bone are slowly replaced with hard, inflexible bone.

Over the course of their lives, victims must cope as their bodies harden and lock into place. Surgery to remove the excess bone is impossible, as any incisions made on the patient will heal over as bone and create more damage. Any injuries also put the victim at risk of increasing the rate of ossification, making it an extremely difficult disease to control. There is no cure for this rare disease, which has been traced back to malfunctions in the ACVR1 gene. About one in every two million people are affected.

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Epidermolysis bullosa is listed (or ranked) 2 on the list The Rarest And Most Gruesome Genetic Diseases Known To Science
Photo:  Wellcome Images/Wikimedia Commons

Epidermolysis is a condition that causes the victim's skin to be incredibly fragile. It's about as gruesome as a disease can get. People with epidermolysis are often covered in blisters and open wounds as their skin tears and slides off. Even the smallest bit of friction can cause skin to literally erode, so scratching an itch is out the window for afflicted patients. 

In some cases, blisters can start to form inside the body, making normal bodily functions like swallowing incredibly painful. Some pretty horrible things can result from this non-stop scarring process, including fused fingers, loss of nails, and skin cancer. The root of this disease is an error in the COL7A1 gene, which creates a protein that is required to make the molecules which bind connective tissues together. 

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Hydrocephalus is listed (or ranked) 3 on the list The Rarest And Most Gruesome Genetic Diseases Known To Science
Photo:  National Museum of Health & Medicine/Wikimedia Commons

Hydrocephalus is a disorder that can arise from preexisting genetic conditions as well as issues that come up during pregnancy. Like the name suggests, hydrocephalus describes an excess of cerebrospinal fluid buildup in the brain that can create dangerous pressure levels inside the skull. 

The skulls of infants with hydrocephalus often become bulbous to accommodate the extra fluid, but older victims with less flexible skulls suffer a range of other debilitating symptoms. Rifts in the brain known as ventricles can expand from the intense pressure. Common symptoms in adults include mental impairment, intense headaches, sensory loss, and changes in personality. There are varying levels of treatments for different kinds of hydrocephalus but, left untreated, this disorder can be fatal.

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Proteus syndrome is listed (or ranked) 4 on the list The Rarest And Most Gruesome Genetic Diseases Known To Science
Photo: Freebase/Public domain

Unlike many other genetic diseases, Proteus syndrome is not passed down by a parent. A random mutation during fetal development is all it takes, and the result is disturbing. People with Proteus syndrome experience uncontrolled growth of soft tissues and bone, disfiguring them tremendously. Some affected by the disease will experience mental health issues, including diminished intelligence and seizures. Blood clots are common and are often fatal for the afflicted, and people often generate tumors randomly on their bodies. The infamous "Elephant Man" was believed to be a sufferer of Proteus syndrome.

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