Focal dermal hypoplasia is a genetic disorder that affects the skeleton, skin, face, and eyes. Abnormalities include thin skin, nodules of fat, and slightly darker/lighter skin streaks. When skin changes occur, pain and itching are usually present, which can sometimes progress into skin infections. Papillomas can also present themselves with aging, typically around the genital and anal areas and the nostrils and lips.
The disorder’s other physical features include missing fingers or toes or webbed/fused fingers or toes. Small or underdeveloped eyes are also usually present, and only a few may have low vision or blindness. Facial asymmetry, small ears, notched nostrils, and a pointed chin is also physical characteristics of the disorder. Internally, a horseshoe kidney may develop (where the kidneys fuse).
Familial cold autoinflammatory syndrome presents itself as periodic fevers. Symptoms include fever, joint pain, and a burning rash when the person is exposed to cold temperatures. Symptoms usually present themselves in infants, children, and adolescents and will likely last the rest of their lives. A person will also have excessive sweating despite not being exposed to high temperatures. However, this disorder is rare, with only about 60 cases reported since discovery.
The only actual treatment for the disorder is cold avoidance; staying away from freezing temperatures minimizes the chances of the symptoms presenting themselves. However, if it is impossible to avoid the cold, biologics (drugs made from living sources) can be injected under the skin to prevent or ease the symptoms by blocking the inflammatory response to the cold.
Russell-Silver syndrome is a genetic disorder characterized by lib and facial asymmetry, as well as stunted growth. Symptoms can present themselves in various ways, from severe to so mild that they’re undetectable. Because the disorder is so rare, not many doctors are familiar with it, so a diagnosis can become difficult. Thankfully, as people with the syndrome age, their symptoms can improve over time.
The main criteria for Russell-Silver syndrome are stunted growth, asymmetry in the limbs, body or face, triangular-shaped face, short arm span, prominent forehead, developmental delay, hypoglycemia, and gastrointestinal disorders. The condition is even more challenging to detect because it is not genetic; most people who have it don’t have it present in their family history. Treatment of the disorder involves management of diet, speech and physical therapy, and the development intervention programs.
Lesch–Nyhan syndrome is a rare disorder that mostly presents in men. Firstly, uric acid is in the blood, leading to gout and kidney problems. Secondly, there are developmental delays, which usually appear within the first year of life. The third symptom to present itself is the most shocking: self-mutilating behavior. Children with this syndrome tend to chew on their lips and fingers to the point of bleeding. They can even remove the flesh altogether.
Other neurological symptoms are involuntary writhing, repetitive movements of the arms and legs, facial grimacing, vomiting, spitting, and involuntary swearing. There is treatment to eliminate the amount of uric acid in the blood. However, even this does not stop the self-mutilating behavior. However, new therapies, such as deep-brain stimulation, are being developed to help combat these compulsive tendencies.
Larsen syndrome is a disorder that affects bone development throughout the body. This can lead to dislocations in many joints, including knees, hips, and elbows. Clubbed feet (feet turning inwards) are also a common symptom, as well as extra bones forming in the wrists and ankles. Regarding facial features, a person with Larsen syndrome will have a prominent forehead, a flattened nose bridge, and wide-set eyes.
Because bone development is affected throughout the entire body, this also includes the tiny bones inside the ear, which can lead to some people with Larsen syndrome having hearing loss. Suppose the syndrome affects the development of the spine. In that case, it can be abnormally curved, leading to weakness in the limbs, respiratory problems, respiratory infections, and heart and kidney problems. Larsen syndrome does not affect intellectual function whatsoever.
Ehlers-Danlos syndrome is actually a name for a group of genetic disorders, which means that they can be inherited. The syndrome mainly affects the connective tissues, including the muscles, ligaments, skin, tendons, bones, blood vessels, and internal organs. Most of these disorders include stretchy skin, fragile skin that bruises easily, and an increased range of joint movement called hypermobility. You would think that being extremely flexible would be a good thing, but it can be quite debilitating.
This is because it is easy for the joints to become dislocated easily and can be painful. For this reason, certain activities have to be avoided to prevent this from happening. Doctors recommend protective gear to prevent strain on the joints from occurring. Physical therapy and medication for pain are usually the only treatment options for this syndrome.
Yellow fever isn’t a syndrome but rather a hemorrhagic infection typically transmitted through mosquitoes. It causes a high fever, bleeding under the skin, and cell death of the liver and kidneys. Because of this, the first sign of the infection is jaundice, which is the eyes’ whites and the skin’s overall color becoming yellow. The main treatment options for someone with yellow fever include supportive care to minimize liver and kidney damage, dealing with the high fever, and reducing blood loss.
Thankfully, there are immunizations against yellow fever, which are essential if you plan on traveling. In fact, some countries require that you be vaccinated against it before allowing you in. If someone becomes infected, they are generally immune, so they are unlikely to become infected again. Most of those who become infected usually do not develop symptoms, which typically appear between three to six days after infection.
Timothy syndrome is a genetic disorder that presents neurological and developmental defects and physical malformations. The most common symptoms include heart arrhythmias, webbing of the fingers and toes, and autism spectrum disorder, just to name a few. There is also atypical Timothy syndrome, which has similar symptoms except for the webbing of the fingers and toes.
Children with Timothy syndrome also tend to have small teeth with very poor enamel coating, making them prone to dental cavities that require teeth removal. Unfortunately, the average life span of children born with Timothy syndrome is roughly 2.5 years old, so there are no recorded adults alive with the syndrome.
Tietze syndrome is an inflammatory syndrome that causes swelling in the cartilage of the upper ribs. This can result in a lot of chest pain that can be debilitating. The syndrome usually affects only one rib, so pain is usually only on one side of the chest. This pain can radiate up the neck, shoulders, and arms. When this happens, the area can feel a bit warm to the touch.
The pain can range from mild to severe but does make it difficult for a person to cough, sneeze, perform quick movements that involve the upper torso, or exercise. The syndrome seems to have an alternating pattern of having no symptoms and then symptoms flaring up. It’s unclear what causes the syndrome, but scientists believe that microtrauma to the chest could play a part in the syndrome appearing.
Dejerine-Sottas syndrome causes muscle weakness and loss of sensation in the arms and legs. This is due to damage in the body’s peripheral nerves, starting in childhood and worsening into adulthood. Physiotherapy is required to help cope with the disorder’s symptoms to maintain muscle strength and flexibility. Because it is an inherited disorder, you can pass it down from parents to children.
Other symptoms in addition to muscle weakness include lack of coordination, difficulty walking, ankle sprains, fatigue, respiratory problems, and pain. You should start physiotherapy as soon as possible, so there are no complications later on in life due to delayed muscle weakness. Doctors recommend aerobic activities to increase a person’s stamina and reduce fatigue.
This may seem attractive, but cat eye syndrome is more complicated than you realize. It involves the malformation of the iris, which can give an elongated pupil effect similar to the pupil of a cat. Other malformations include the ears, anal region, heart, and kidneys. However, each case is unique; some people will have very few symptoms, while others may have a wider range.
Although the syndrome is not genetic in nature, there are mild cases where a child had features of the symptom when a mild case was discovered in the parent. The severity of the symptoms doesn’t predict the presence of severity of the symptoms in a child either. Thankfully, vision is not affected by the syndrome unless the coloboma involves the other layers of the eye.
Pica has become more well-known in recent years due to the popularity of certain television shows. It is an eating disorder characterized by consuming things that are not food, such as dirt, hair, paint chips, or paper. This disease is not confined to these materials and can involve anything the person with pica craves. Unfortunately, this can lead to the ingestion of some dangerous materials that can have a profound and detrimental effect on a person’s health.
The eating disorder is quite prevalent in children aged 1 to 6, who are still experimenting with the world around them and tend to put random things into their mouths. Pica is also prevalent in pregnant women who have intense cravings for certain things, including food and non-food items.
Carpenter syndrome is a condition that is characterized by the premature fusion of the skull bones, which means that the brain doesn’t have room to grow or develop. As a result, developmental problems occur. Some abnormalities may occur in the fingers and hands. Because of the fusion of the skull bones, the head has a pointed appearance, giving the skull a cloverleaf appearance.
Pressure also increases within the skull, which results in developmental delays. Children with Carpenter syndrome tend to have flat nasal bridges, low-set, and abnormal ears, eyes that slant downwards, and underdeveloped lower jaws. Other syndrome features include hearing loss, defects in the heart, umbilical hernias, rounded upper backs, and malformed hips.
Buerger’s disease is an inflammatory disease of the arteries and veins in the hands and feet. The blood vessels become inflamed, which reduces blood flow to these body parts. As a result, fingers and toes will have a darker appearance, almost as if they have frostbite. Without treatment, this can become dangerous because a lack of blood flow to the extremities will cause the tissues to necrotize.
Blood clots are also prominent with this disorder, as well as pain and open ulcers on the fingers and toes. The exact cause is unknown, though those who smoke heavily tend to be at a higher risk. There is no actual cure or treatment for the disease. However, you have some options to minimize discomforts, such as quitting smoking, surgery to bring blood to the affected areas, or medications that force the blood vessels to relax so that blood can flow more smoothly.
Alopecia areata is an autoimmune disorder that attacks the hair follicles, resulting in hair loss. There is no known cure for alopecia, but there are treatment options to help hair regrow more quickly. One of these options is corticosteroids, which can suppress the immune system so that the hair follicles are attacked much less. Photochemotherapy is also an option for those who want less invasive treatment options.
Alopecia areata mostly occurs on the head and face, resulting in hair loss on the scalp, eyebrows, and eyelashes. For this reason, wearing sunscreen and shades is essential to prevent the harmful damage caused by UV light to the skin and the eyes. For men, alopecia areata can affect the facial hair, resulting in patchy spots in beards and mustaches.
Alexander disease is a fatal neurodegenerative disease caused by the constant degeneration of the neurons in the brain. At birth, babies appear healthy, but the onset of symptoms occurs over some time afterward. The myelin sheaths that protect the neurons start to disintegrate, resulting in a lack of nerve impulses transmitted to the brain and around the body. Individuals with this disease will lose their ability to function over time; eating and walking are the first functions to be lost.
As time progresses, other functions will fail, such as breathing, difficulty swallowing, seizures, vomiting, and constipation. Overall, the body’s internal organs aren’t receiving the nerve impulses they should, so they don’t know how to function normally either. The disease is not always hereditary, so there is no way to know when the condition is present when a child is born. It can sometimes result from a random mutation of the GFAP gene.
Werewolf syndrome, also known as hypertrichosis, is identified by excessive hair growth on the face and body. There have been at least 100 documented cases globally which is hereditary. Through careful scientific studies and genetic testing, researchers discovered that extra genes on the X Chromosome caused the hair-growth gene to switch on.
There are different types of hypertrichosis, depending on where the hair grows. In the case of hypertrichosis lanuginosa, hair will grow all over the body. That includes the palms of the hands and bottoms of the feet. In contrast, localized hypertrichosis will only form in localized patches on one specific body area and won’t spread anywhere else. In other cases, hypertrichosis can result from drug side effects, certain cancers, or eating disorders.
Tree man syndrome is a disorder that makes a person more prone to the HPV virus. This results in “bark-like” growths appearing all over the body. A mutation in the gene causes a condition called epidermodysplasia verruciformis. It makes a person more susceptible to the human papilloma virus. The state presents itself early on in childhood, causing flat, wart-like bumps on the skin’s sun-exposed areas. These then spread all over the body, making everyday living quite tricky.
The uncontrolled growth of these warts can completely envelop the hands and feet, so much so that you can no longer use these body parts to fulfill everyday tasks. Unfortunately, there is no cure for the condition, and the only treatment option is the surgical removal of warts. However, the growths due return over time, so surgery is not a permanent fix. Doctors recommend removal, as sun exposure to these growths increases cancer risk.
Addison’s Disease is a disorder that affects the adrenal glands in the kidneys. It’s quite uncommon, but it does inhibit the body’s ability to produce certain hormones. These hormones are usually cortisol and aldosterone. Cortisol is the hormone released when a person is stressed; it releases sugar into the bloodstream and increases the ability of substances to repair damaged tissues. Aldosterone controls water and salts within the body; if it is too low, a person can experience dehydration, low sodium levels, and low blood pressure.
Without treatment of Addison’s disease, the condition can become life-threatening. The typical cure is hormone replacement therapy to balance the body’s chemistry. Symptoms of the disease include weight loss and decreased appetite, extreme fatigue, the craving for salt, muscle/joint pains, body hair loss, depression, and irritability. In some cases, the symptoms of the disease can appear quite suddenly, called acute adrenal failure. Symptoms include confusion, severe abdominal pain, reduced consciousness, lower back or legs pain, and extreme weakness.
Congenital insensitivity to pain may sound like a dream, not being able to experience pain, but the pain is essential to survival. Pain tells us when something is wrong with our bodies, and we should pain attention to it. Without pain, individuals would be completely unaware of their injuries, which can accumulate wounds, bruises, and even broken bones that they don’t even notice.
Children with this condition tend to have wounds on their mouths and fingers from self-inflicted biting. Many people who have this condition will lose their sense of smell. The cause of this condition is peripheral neuropathy, which is damage to the nerves surrounding the brain and spinal cord that inhibit the sensations of touch, smell, and pain.
Walking Corpse Syndrome may be one of the strangest syndromes, but it really impacts people’s lives. Most people think it’s made up of people who want attention, but those with Walking Corpse Syndrome are seriously suffering. People with this condition are living with the delusions that they are truly dead: they believe they have no organs, blood, or body parts, even though they are still breathing. In the rarer cases, people start to think that they are actually immortal.
Those with Walking Corpse Syndrome also experience other mood or psychotic disorders. You may hear it called Cotard’s syndrome because Jules Cotard, a French neurologist, first examined it. He had a patient who insisted they had no organs and were missing certain body parts. As a result, they believed that they didn’t need to eat and passed away from starvation some time afterward.
This one is definitely one of the more jaw-dropping disorders. PGAD stands for Persistent genital arousal disorder; despite its name, it’s quite uncomfortable and debilitating. It occurs mostly in women, and many patients have reported that it is quite different from sexual arousal, and sex or masturbation doesn’t curtail the symptoms. It can cause quite a lot of distress in day-to-day life, but the problem is that it is still a poorly understood condition.
Because the symptoms continue for such an extended period with no means of relief or recourse, many people who live with the disorder tend to suffer from severe depression and may even feel suicidal. The only available treatments include lifestyle changes to minimize contact and blood flow to the genitals. This can include avoiding tight clothing, cycling, or prolonged sitting in one place. Pelvic physiotherapy can reduce the tension in the overactive pelvic muscles. You can minimize anxiety and keep the muscles throughout the body relaxed with meditation.
Foreign accent syndrome is incredibly rare, with only about 100 reported cases since 1907. It is a speech disorder characterized by sudden articulation and intonation that differs from how the person normally speaks. Simply put, the person develops a new accent altogether, even though they’ve never been to another country and would have never been exposed to this accent before. The pronunciation of words and vocabulary undergo drastic changes to the point that it sounds like a foreign accent to the listener, but it is not a true foreign accent.
Many scientists believe that this results from something in the brain since multiple areas are involved with speech. The foreign accent usually presents itself after there has been brain damage of some kind or there has been a psychiatric illness. Treatment involved typically looks to the original cause of the syndrome.
Achard-Thiers syndrome is also roughly known as diabetic bearded woman syndrome. This is because it primarily affects women in the postmenopausal stage who also live with type 2 diabetes. This disorder leads to the production of excess androgen, which is the hormone that is triggered when puberty hits. The most frequent signs of the syndrome include cravings for sugar, frequent urination, feeling anxiety, fatigue, lacking focus, weight loss, and difficulties concentrating.
Concerning androgen production, other symptoms can appear, such as infertility, obesity, receding hairline, increased body hair production, and a deepening of the voice. Treatments for the condition include healthier eating habits and exercise to keep diabetes under control, hormone therapy, and cosmetic removal of body hair.
Gigantism is characterized by excessive growth, making a person much taller than the average human. Some people can get up to nine feet tall! It results from a rare disorder that affects the growth hormone so that it never stops being produced. However, this constant release of this growth hormone occurs before the growth plate fuses, which can lead to painful joints and limbs. The enlarged body size tends to stress specific organs, such as the circulatory system and the heart.
The skeletal system is also affected; many who have gigantism tend to need help walking with a cane or some other mobility device. Studies show that most cases of gigantism result from a tumor growing on the pituitary gland within the brain. There are only a few cases where gigantism can be passed on through a mutated gene.
Pterygium is also called a surfer’s eye and is a fleshy growth that appears on the eye’s conjunctive tissue. The leading cause of this disease is excessive exposure to UV light. Eyes can become red, swollen, and irritated. As the pterygium grows, it can impact vision, causing it to be blocked or blurred. However, the pterygium doesn’t continue to grow in all cases. Those most prone to pterygium are those who spend a lot of time outdoors, are exposed to a lot of UV light, and are primarily found in adults who live near the equator.
Usual signs include red and irritated eyes, slightly-raised pink growth, dry eyes, and the sensation of grit in the eye. As it continues, the growth can get bigger, and vision can be impacted over time. Most treatment options for pterygium include eye drops for lubrication and/or to reduce irritation and swelling. Doctors usually recommend surgery when vision starts to decline.
Exploding head syndrome is a real disorder that negatively impacts a person’s quality of life. In trying to fall asleep, a person’s systems start to slow into a state of rest. But for someone with exploding head syndrome, neurons can sometimes misfire. In this disorder, the person will suddenly hear a loud sound that scares them awake, but this sound never occurred. The condition is harmless, but it can be distressing, and the interruption to the regular sleep pattern can adversely affect one’s health.
Thankfully, the misfire doesn’t happen regularly. However, on the downside, it becomes difficult to know when it will be triggered so that people living with exploding head syndrome can prepare for it or take some precautionary steps. The most common trigger seems to be stress and extreme fatigue, so reducing these as much as possible in one’s life can minimize the chances of misfiring.
This one was featured on an episode of Grey’s Anatomy. A man came into the hospital drunk – but hadn’t consumed a drop. Turns out, auto-brewery syndrome was the culprit. And it’s very real. The person’s digestive organs can produce alcohol when there is a particular type of yeast in the gut. As a result, the person with this syndrome will display all signs of being drunk without actually drinking.
Specific yeasts in the gut can produce this “drunk” effect; the problem lies when their numbers become too high in the stomach. Ethanol is made in the digestion process, which creates the drunk effect. This overgrowth is more prominent in those with liver cirrhosis, diabetes, or Crohn’s disease.
Methemoglobinemia is a disorder that is related to the blood and is the result of there being very little oxygen in the red blood cells. This results in the pigmentation of the skin is somewhat blue since there is no oxygenation to the extremities. There are other health complications as well, such as difficulties breathing, diarrhea, vomiting, excessive salivation, feeling extremely lethargic, and losing consciousness.
It is an inherited disorder but can also result from exposure to certain drugs or chemicals. Removing the cause will improve the condition. The most common treatment for this disorder is methylene blue, which converts the ferric iron in the hemoglobin into ferrous iron so it can be more readily absorbed. Other treatment options include blood transfusions, oxygen therapy, and ascorbic acid to reduce the methemoglobin level in the blood.
Brain stones, also called cerebral calculi, are calcifications found inside the skull. A young Brazilian male reported having throbbing headaches and problems with his vision, and doctors found brain stones. The doctors believed that the brain stones resulted from complications with celiac disease, which the man didn’t know he had. The only treatment for brain stones is removed through surgery.
Because brain stones are so rare, there isn’t much literature about the subject, and, as a result, there is no definitive cause for the stones forming. One of the most common symptoms caused by brain stones is headaches, seizures, and behavioral changes. Over time, without treatment, these symptoms only get worse and increase in frequency.
Progeria is one of the strangest disorders out there. It appears during the early onset of children, usually at the age of 1. However, children never get any bigger by age five, leading to very short stature. By the time a child becomes 10, they already have the appearance of an older adult, with thin skin, pronounced formation of blood vessels, thinning hair, and vascular disease. It’s as if the child is experiencing rapid aging.
Heart disease develops at this point, and most individuals with the disorder pass away before they reach 30. There is no treatment or cure for the condition, and it is also not an inherited disorder. It is the result of a spontaneous mutation of a gene, so there is no way to predict that this disorder will appear.
Aarskog syndrome is a genetic disorder that affects overall appearance, as well as the skeleton, muscles, and stature. The parts of the body most affected are the face, toes, and fingers. A diagnosis is usually made at the time of birth because of the presence of facial abnormalities: expanded width of the forehead, drooping of the eyelids, wide-set eyes, descending slant of the eye-opening, and hair growth at the widow’s peak.
Treatment of the syndrome is spread across the treatment of the different symptoms, including dental specialists, speech pathologists, cardiologists, eye specialists, and hearing specialists. You can have growth hormones to help improve height in children and ask about genetic counseling to assess the recurrent risk in families.