The Rarest And Most Gruesome Genetic Diseases Known To Science

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. 

Photo: Wikimedia Commons / CC-BY

  • 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.

  • Epidermolysis bullosa 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 the 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. 

  • 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.

  • Proteus Syndrome Causes Unchecked Cell Growth
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    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.

  • Hutchinson-Gilford progeria syndrome is the name for an unusually cruel disorder, one that evokes images of Benjamin Button. Children afflicted with this condition are said to age at incredible speeds and rarely survive past the age of 13. Newborns don't show any signs of the disease, but within the first years of life, they will begin to show symptoms. Bulging eyes, a beak-like nose, and wrinkled skin are all signs that a person has progeria. 

    The worst part of this disorder is the high risk of heart attacks and strokes. The disease causes arteries to harden, which greatly restricts blood flow and is usually the cause of death for a person with progeria. LMNA is the gene responsible for this incurable disorder, for when it malfunctions, it causes the premature deterioration of cells. There is no cure for progeria, but extensive research is being conducted to discover a treatment.

  • Epidermodysplasia Verruciformis Turns Skin Into Bark

    Epidermodysplasia Verruciformis Turns Skin Into Bark
    Photo: Monirul Alam / Wikimedia Commons

    A defect in the EVER1 or EVER2 genes is responsible for this condition, one that has been nicknamed "treeman syndrome" after its unusual symptoms. Epidermodysplasia verruciformis makes victims incredibly susceptible to human papillomavirus, also known as HPV. They can get multiple strands of the virus at once, some of which are exclusive to people suffering from this specific disorder.

    Over time, warts will begin to form on every inch of the afflicted person's body, particularly the hands and feet. These hardened warts bare an eery resemblance to tree bark and can be severely cumbersome. Many people with this genetic disorder develop skin cancer as a result, which can be fatal. Surgery is often required to remove the warts, and there have been cases where even the most severely afflicted regain some control of their limbs.