10 Rare Diseases You’ve Never Heard Of

Rare Diseases You’ve Never Heard Of. Numerous diseases can affect humans, causing different symptoms and in some cases leading to death, and unfortunately, many of these have no cure. Some illnesses are so rare that we hardly ever hear about them. The international scientific community estimates that there are around 6,000 – 8,000 rare diseases in the world, almost all of them chronic and genetic in origin. But what exactly are rare diseases? Rare diseases are characterized by a wide diversity of signs and symptoms and vary not only from disease to disease but also from person to person with the same condition. Concept of Rare Disease (RD), according to the World Health Organization (WHO), is a disease that affects up to 65 people in every 100,000 individuals, that is, 1.3 for every 2,000 people.


10 Rarest Diseases You’ve Never Heard Of


10. Alice in Wonderland Syndrome

Alice in Wonderland Syndrome (or AIWS), also called Todd Syndrome, named after author Lewis Carrol, is a neurological disorientation disorder that dramatically affects human perception. People affected by this condition may experience symptoms of micropia, macropsia, or other types of size distortions from other modalities. It is usually a temporary disorder associated with severe migraines, brain tumors, and the use of drugs with psychoactive effects.


9. Capgras Syndrome and Frégoli Syndrome

These two syndromes involve delusions in identifying people. Individuals who suffer from Capgras Syndrome come to recognize those close to them as identical imposters. Fregoli syndrome, on the other hand, is a psychological disorder that leads the patient to believe that different people are just one person changing their faces, disguising themselves, and impersonating others. Both mental disorders are often associated with patients suffering from paranoid schizophrenia.


8. Aquagenic urticaria

Aquagenic urticaria is a rare form of physical urticaria characterized by the appearance of wheals after contact with water, regardless of temperature. It is a rare disease, which affects one in 230 million people. At the moment, there are about 40 registered cases in the world.


7. Progressive lipodystrophy

Sometimes referred to as “inverse Benjamin Button syndrome,” lipodystrophy makes patients look much older than their true ages. The culprit is a genetic mutation that is inherited or acquired through medications, autoimmune mechanisms, or other unidentified processes. Lipodystrophy is characterized by the loss of fat tissue under the skin. Fat loss occurs in the face, followed by the neck, upper extremities, and torso, which causes wrinkles and creases in the skin.


6. Curse of Undine

Ondine’s Curse (OM), or central alveolar hypoventilation syndrome, is a rare clinical entity characterized by failure of automatic (involuntary) breathing control mechanisms. The name is a “homage” to the nymph Ondina, from the waters of European pagan mythology, and the disease was discovered over 30 years ago and there are a few hundred people in the world who suffer from the problem. The symptoms of the undine curse cause patients to lose full control of their breathing, eventually “forgetting” to breathe.


5. Gut fermentation syndrome

Gut fermentation syndrome or bladder fermentation syndrome or auto-brewery syndrome is a rare medical condition in which intoxicating amounts of ethanol are produced by endogenous fermentation in the digestive system. It is caused by the excessive presence of yeast in the intestine, which turns sugars into alcohol, and causes patients to become intoxicated without consuming alcohol.


4. Geographic language

Geographic tongue is a harmless condition that affects the surface of the tongue. Symptoms include smooth red patches on the top or side of the tongue. Spots can change location, size, and shape. The patches usually heal and move to another location on the tongue before disappearing on their own. The condition happens due to the lack of taste buds in certain parts of the tongue, regions where some finger-like projections appear, similar to geographical drawings.


3. Riley-Day Syndrome

Riley-Day Syndrome is a rare hereditary disease that affects the nervous system, impairing the functioning of sensory neurons, responsible for reacting to external stimuli, causing insensitivity in the patient, who does not feel pain, pressure, or temperature from external stimuli. Carriers of this disease tend to die young, around 30 years old, due to accidents that tend to happen because of the lack of pain.


2. Porphyria

A porphyria is a group of rare diseases caused by a defect in the production of hemoglobin enzymes, responsible for transporting oxygen in the blood. There are two types of porphyrias. The first concerns hereditary genetics and the second divides porphyrias into cutaneous and acute, with specific symptoms and signs. It is characterized by a substance called porphyrin, which accumulates in the body, resulting in damage to the skin and nervous system of patients.



1. Gastrosquise

Gastroschisis, a malformation of the abdominal wall that occurs between the 4th and 10th week of gestation, consists of an opening in the fetus’s abdomen – usually on the right side of the umbilical cord – through which the intestinal loops and, in some cases, the stomach, or another organ of the abdominal cavity come out.


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