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10 Most Interesting and Extremely Rare Genetic Disorders

These 10 most interesting and extremely rare genetic disorders might be some of the strangest disorders you never knew existed.

A genetic disorder is a cause of DNA mutation and there are various factors as to why this kind of mutation happens. This can be inherited when a genetic disorder runs in the family or it can be acquired for some reason or another. One big factor, however, is the environment. Things like radiation exposure or other pollutants such as cigarette smoke, can result in genetic mutations, and 1 in 10 Americans are affected by rare diseases according to Global Genes. The organization also says there are different rare genetic disorders affecting people all over the world.

As time goes by, our genome can change, and these genetic disorders could be an extra chromosome, a single gene is affected, or multiple genes that are affected. For example, Down’s Syndrome is a result of an extra copy of chromosome 21. The organizations that are dedicated to looking for answers and eventually cures for these genetic disorders are continuing their journey to be able to come up with a solution one by one, for the different cases of genetic disorders. You can see our list of 10 Easiest Genetic Disorders to Research for a Paper for some examples of common single gene mutation and extra chromosome disorders.

However, not all genetic mutations result in something perceived as negative. There are many cool genetic mutations and cool genetic disorders that have been shown to result in things like an increased pain tolerance or increased flexibility and strength, just to name a few examples. Traits like red hair, two different color eyes, freckles and even blue eyes are all the result of genetic mutations and considered by most as beautiful genetic mutations in humans. So, you see, the words “genetic mutations” may sound kind of scary, but it happens more often than you might think.

We gathered our data of the most interesting and extremely rare genetic disorders with the help of the National Organization for Rare Disorders. There are tons to pick from, but we decided to pick ten out of the many. The ten we’ve picked are not commonly heard about and pretty rare when it comes to finding extensive research or a number of people who are affected. Some of these are named after well-known people, however some have names we’re not even sure how to correctly pronounce. Many of these mutations can affect the physical and even mental aspects of a person. It can deform a person’s face and body which could also lead to fatality and shorten the lifespan of a person. Due to the fact that all these genetic disorders are rare and have different effects, we did not rank the list in any particular order.

Let’s take a look at our list of the most interesting and extremely rare genetic disorders.

10. Ichthyosis, Harlequin Type

Harlequin Ichthyosis is a genetic disorder that affects the skin, and a baby can be born with this skin disorder as it can be inherited. The thick, plate-like skin covering the newborn baby will eventually peel off and the skin appears dry and red. Because of this, thorough care must be given to the infant to avoid any infections. This tight skin can deform the face and body where the eyes and lips turn inside out showing the red lining. Difficulty in breathing can also be experienced.

10 Most Interesting and Extremely Rare Genetic Disorders

9. Lesch-Nyhan Syndrome

An error of purine metabolism is the cause of Lesch-Nyhan Syndrome.  Abnormal accumulation of sodium urate crystals occurs in the joints and kidneys. Lesch-Nyhan Syndrome can be detected in as early as six months of age.

10 Most Interesting and Extremely Rare Genetic Disorders


8. Hutchinson-Gilford Progeria

Remember the movie The Curious Case of Benjamin Button?  This movie pretty much explains Progeria (with a little bit of a twist). Hutchinson-Gilford Progeria shows unusual growth development, and the features of a child with Progeria resemble an aged person. There are delays in growth and hair is typically lost.

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7. Angelman Syndrome

Dr. Harry Angelman was the man who described Angelman syndrome in 1965, and obviously this genetic disorder was named after him. The symptoms of Angelman syndrome vary on a case-to-case basis. Some may experience seizures while others won’t. This can be apparent around one to four years of age.

6. Ehlers-Danlos Syndrome

Halfway on our list of most interesting and extremely rare genetic disorders is Ehlers-Danlos Syndrome. The subdivisions of this disorder are arthrochalasia type, cardiac valvular form, classic type, dermatosparaxis type, hypermobility type, kyphoscoliotic type, progeroid form, and vascular type. EDS symptoms depend on what subtype the person has, but they can range from chronic joint pain to fragility of the skin.

10 Most Interesting and Extremely Rare Genetic Disorders

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5. Hailey-Hailey Disease

Hailey-Hailey Disease affects the armpits, neck, skin folds, and genitals, causing blisters to appear that, most of the time, heal without scarring. The factors that could trigger Hailey-Hailey disease are sunlight, heat, and sweating which causes friction to these areas of the skin.

10 Most Interesting and Extremely Rare Genetic Disorders


4. Xeroderma Pigmentosum

Another genetic disorder that targets the skin is Xeroderma Pigmentosum. This occurs when the skin is highly sensitive to ultraviolet radiation. Xeroderma Pigmentosum may eventually lead to skin cancer.

10 Most Interesting and Extremely Rare Genetic Disorders

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Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy is what the abbreviation CADASIL means.  This rare genetic disorder affects the brain, particularly the small blood vessels in it. Stroke, cognitive impairment, migraine with aura, and psychiatric disturbances are symptoms of a person with CADASIL.

2. Jumping Frenchmen of Maine

Jumping Frenchman of Maine is not a person jumping but it is a genetic disorder. Basically a person with the disorder suffers from extreme startle reaction. The cause is still unknown, but the disorder will usually occur in the teenage years.

10 Most Interesting and Extremely Rare Genetic Disorders

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1. Fibrodysplasia Ossificans Progressiva

Fibrodysplasia Ossificans Progressiva or also known as Stone Man Syndrome is a tissue disorder where there is a strange development of bone. Basically, someone’s soft tissues will become stiff, eventually making it impossible for the person to move.

10 Most Interesting and Extremely Rare Genetic Disorders


That wraps up our list of 10 most interesting and extremely rare genetic disorders. We hope you learned something new.