Usually when you hear about a genetic condition in the media, it’s presented as rare. You may be surprised to learn that around 60% of people will endure some kind of health problems related to a genetic condition. The symptoms can range from extremely mild to absolutely devastating. Many of the more common or severe conditions get a lot of media coverage, but there are numerous others which bring a host of unusual symptoms along with them that are lesser known.
10. Angelman Syndrome
Angelman Syndrome affects about 1 in 12,000 to 20,000 people. Its cause is related to a problem with a gene on chromosome 15. Either the maternal copy of the gene is damaged in some way, or there are two paternal copies present.
Those with Angelman may have developmental delays and issues with balance and speech. However, there are some other characteristics of the condition which make it very unique. One of them is how it affects the disposition of children who are born with it. Though they may experience intellectual disabilities, children with Angelman’s are frequently noted to have remarkably happy and excited dispositions. Smiling and laughter are hallmarks of the syndrome.
People with Angelman typically have a lifespan as long as those who don’t have the condition, although they may require lifelong assistance. Another unique aspect of the condition is that many of those diagnosed with it have a fascination with water.
9. Snatiation
Snatiation may be a fun word to say, but it’s an odd condition to have. The name is a portmanteau combining “sneezing” with “satiation” and gives insight to what exactly happens when you suffer from the condition. Those who have it sneeze after they feel full from eating.
First identified in 1989, the condition has been studied little because, let’s be honest, it’s not a pressing concern for most people. Basically, what happens is that, after eating a meal that fills you up, you’ll sneeze a handful of times. The case was first reported in a man who sneezed about four times after every meal, and most of his family did the same. So clearly it was genetic in nature. One person recorded 22 sneezes as a personal record. Annoying, to be sure, but not dangerous.
The type of food has no effect on the condition, and the sneezing isn’t a continual, painful, or even disruptive thing, but it may happen for someone’s entire life.
8. Favism
Favism sounds similar enough to favoritism that you may not even realize it’s related to a genetic condition at first. That said, it is a condition that affects people who are deficient in an enzyme called glucose-6-phosphate dehydrogenase. This enzyme is important to maintaining red blood cells. Now, even if you have the condition, you’ll likely be fine in general. The problem arises when a person who has it consumes certain compounds that can be found in medication or specific foods. When those are ingested, red blood cells can burst inside the body and lead to severe anemia.
So far it sounds like a curious condition, but not all that weird. That part comes in when you look at what triggers this anemia reaction. It’s fava beans, hence the name favism. You can also suffer the same fate by eating broad beans which are in the same family as fava beans and contain the same glucoside compounds.
The symptoms will manifest within six to 24 hours. Victims will become jaundiced and may have dark urine. The condition can potentially be life threatening.
7. Klippel–Trénaunay Syndrome
Klippel–Trénaunay Syndrome can express itself in many ways. The congenital vascular disorder is very often denoted by dark-colored birthmarks as well as overactive bone or soft tissue growth. For many people, it can be debilitating. Since it often presents in a single limb, it can lead to things like fingers or toes fusing. But for Matthias Schlitte, the German Hellboy, it turned out to be an odd blessing.
Schlitte has confirmed he was born with the condition despite online rumors that he did this to himself. And in this case, the “this” we’re referring to is that arm. Schlitte is a professional arm wrestler because his Klippel–Trénaunay Syndrome caused his arm to grow unusually muscular. Though he looks like he spent his whole life only lifting weights with one arm, the condition is mostly responsible for what has happened
He discovered when he was still a little boy that one arm was just much stronger than the other. Encouraged by his mother, he took up arm wrestling and has exploited it to his advantage. His arm grew to 46 centimeters, or about 18 inches in diameter, while the average bicep is under 14 inches.
6. Adermatoglyphia
By the numbers, the odds of a stranger somewhere in the world having the exact same fingerprints as you are one in 64 billion. As far as we know, it has never happened. But there is a much greater chance that someone in the world has no fingerprints at all, thanks to a condition called adermatoglyphia.
One of the rarest conditions in the world and so far only linked to a few families, the only side effect seems to be entirely smooth finger pads. It first came to the attention of a dermatologist in 2007 when a patient came in with a problem. She couldn’t travel from Switzerland to the United States because she had no fingerprints, and no one had ever encountered that before. As it happened, many of her family members had the same problem.
A little digging turned up a mutation in a gene called SMARCAD1. How it caused them to not develop fingerprints is still unclear, and no other symptoms seem to come along with it.
5. Short Sleep
The amount of sleep a person needs can vary based on several factors. The Mayo Clinic has a chart arranged by age with recommendations that range from seven hours for adults to as much as 16 hours for infants. But that seven plus hours is the absolute low end of the scale and doctors generally agree that lack of sleep can bring a host of serious health problems.
That said, there are some people in the world who are genetically short sleepers. A mutation of the DEC2 gene is the culprit. Those with the mutation can cut their sleep cycle much shorter, clocking a brisk four or five hours before waking up as refreshed as the rest of us who need a full seven or eight hours.
In mice that had the same gene manipulated, the production of a hormone called orexin was altered. Orexin regulates wakefulness. Your body produces it when it’s time to wake up and a narcoleptic produces too little. But those with the altered gene make it earlier in a sleep cycle than the rest of us, to no ill effects.
4. Total Color Blindness
You can quickly find an online test for colorblindness and it’s likely to be a circle made of colored bubbles. There will be a number in the center formed of reddish bubbles surrounded by green bubbles. If you can’t read that number, you’re colorblind. But that’s just one kind of colorblindness, often called red-green colorblindness.
There are several ways a person can be colorblind, and red-green is the most common. Blue-yellow is another less common version and even more rare is monochromacy. This version affects one in 33,000 people and they see no color at all. The world is simply black and white.
On the tiny island of Pingelap in the Pacific Oceans, monochromacy is very common. This is because, in 1780, a tsunami killed all but around 20 people on the island. The king, one of the survivors, had a genetic condition that caused monochromacy. He set about repopulating the island as best he could and his descendants carried the colorblindness gene,
Today, sufferers need to wear dark glasses during the day because the sun essentially blinds them. However, their night vision is remarkable. Around 10% of the island have the condition and, at night, they can work and function as well as most of the rest of us do in full daylight.
3. Methemoglobinemia
Skin tone can vary greatly from one person to another and for a variety of reasons. Typically, we’re all familiar with the common range of skin tones, however, and it’s rare that you would ever see a person whose skin tone could be described as surprising. This was not the case with the Fugate family, whose skin was blue.
In the 1820s, in a place called Troublesome Creek, Kentucky, there was an entire family of blue-skinned humans. Martin Fugate, the patriarch, had skin described as being “indigo blue.” He married a woman named Elizabeth Smith, and four of their seven children also had blue skin.
In the 1970s, a baby named Benjamin Stacy was born with skin the doctor described as “blue as Lake Louise.” He was the great grandson of Luna Fugate, herself the great granddaughter of Martin, and just as blue.
Martin passed a condition called methemoglobinemia to his children and, as a result of inbreeding, the condition continued. The recessive gene remained in the family line and manifested again with Benjamin Stacy when he was born. Their hemoglobin can’t carry oxygen through the blood and many patients who have the condition, which can also be caused by medication, will die. But if enzyme levels are in the right balance, a person could live a full life as all of the Fugates did. They’ll just be bright blue.
2. Honeymoon Rhinitis
Also called Honeymoon Nose, Honeymoon Rhinitis is a condition where sexual activity leads to nasal congestion and sneezing. The symptoms can manifest at any point during a sexual interaction but seem to occur most often right after. They are not caused by any direct stimulation of the nasal cavity or mucous membranes in the area. The cause is unknown.
It has been theorized that the condition may be caused by emotional stimulation and anxiety. It becomes a parasympathetic response as various hormones and emotions build during the activity and then, boom, your nose turns against you. Another theory has a psychiatric component, with sneezing being a physical manifestation of the emission of sexual tension.
Both men and women can suffer from it, and it resolves itself once the situation is no longer present. That means when the sexy times are done, the symptoms leave in about five to 15 minutes.
One thing worth noting is that the condition isn’t necessarily predicated on actual sexual activity with a partner. It may even occur as a result of sexual thoughts, which could potentially be remarkably frustrating and embarrassing depending on circumstances.
1. Fatal Familial Insomnia
If you’ve ever suffered insomnia or another sleep disorder, you know it can get bad fast. The feeling of exhaustion that refuses to go away and, in time, problems focusing and mood changes. Fatal familial insomnia is a genetic condition that takes this to terrifying new levels.
The condition is caused by a mutation in a gene that produces a cellular prion protein. It can manifest in a person’s 20s all the way to their 70s, though most victims are in their 40s when symptoms begin.Once they begin, a person may have between seven months and six years to live. It cannot be cured.
Symptoms start out as difficulty falling or staying asleep, what you’d consider typical of insomnia. As it progresses, there may be muscle spasms, stiffness, mental deterioration, rapid heart rate and finally death.
Treatments involve measures to try to induce or maintain sleep, but they are only band aid solutions. Over time they fail to provide relief.