Human Body
680.0k readers

The Rarest And Most Gruesome Genetic Diseases Known To Science

Updated March 14, 2019 680.0k views13 items

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. 

  • 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

    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. 

  • Infants With Ectopia Cordis Are Born With Hearts Outside The Body

    There are not many survivors of this condition, as the average lifespan of an infant born with ectopia cordis can be as short as a few hours. This fatal condition occurs when a fetus develops its heart outside of its ribcage, and sometimes outside of its body entirely. Even with surgery, the odds of survival are all but nil. Oftentimes, the fetus' body has developed in a way where there is not enough room in the chest cavity to put the heart in the correct location.

    Even in the face of such a grim disease, some doctors remain optimistic that further research will help increase the chances of survival for babies afflicted with this terrible condition. 

  • Photo: Metaweb (FB) / Public domain

    This genetic mutation affects the formation of skin cells, resulting in a distinctive hardening of the skin. Afflicted infants are covered in plated skin that is separated into diamonds by blood-red fissures. The condition deforms the infant's eyes, nose, ears, and mouth, and is known to cause severe dehydration and fluid loss. The hardened skin also makes it difficult to move or breath, making infant mortality all too common.

    Even with an increased susceptibility of infection, new treatments are allowing children born with harlequin-type ichthyosis to survive into early childhood and adolescence.