rare deseases

The lump in the vagina may be a Gartner cyst, an uncommon condition that arises due to malformations in the fetus during gestation. Normally during pregnancy, the fetus has a Gartner channel, responsible for the formation of the urinary and reproductive system, which should disappear after birth. However, in some cases, it remains and eventually becomes full of fluid, causing a vaginal cyst, which may cause no symptoms until adulthood

Kwashiorkor malnutrition is a nutritional disorder that occurs most often in regions where people are starving, such as sub-Saharan Africa, Southeast Asia and Central America, occurring more often in flood, drought or political times, for example . This syndrome occurs due to poor nutrition caused by lack of protein in the diet, and can cause symptoms such as weight loss, changes in skin color and hair and swelling in the feet and belly

Kartagener's syndrome, also known as primary ciliary dyskinesia, is a genetic disease characterized by alterations in the structural organization of cilia that line the respiratory tract. Thus, this disease is characterized by three main symptoms: Sinusitis , which corresponds to inflammation of the sinuses

Mórquio Syndrome is a rare, serious and incurable genetic disease that prevents spinal growth when the child is still 3, 6 or 8 years old. The untreated disease occurs on average in one in 700, 000 people and affects the entire skeleton, impairing mobility. The main feature of this disease is that it impairs the growth of the whole skeleton especially the spine while the rest of the body and organs maintains normal growth and therefore the disease worsens compressing the organs, causing pain and limiting much of the movements.

Multiple Chemical Sensitivity (MCS) is a rare type of allergy that manifests itself by generating symptoms such as eye irritation, coryza, difficulty breathing, and headache when the subject is exposed to everyday chemicals as a new clothing, smell of shampoo or other cosmetic products, car pollution, alcohol and so on

Congenital analgesia is a rare disease that causes the individual to not feel any kind of pain. This disease can also be called congenital insensitivity to pain and causes its sufferers to not perceive temperature differences and can burn easily, and although they are sensitive to touch, they are unable to feel physical pain being prone to serious injury, even crushing limbs

Epispadia is a rare defect of the genitals, which can occur in both boys and girls, being identified early in childhood. This change causes the opening of the urethra, the canal that carries the urine from the bladder out of the body, is not located in the right place, causing the urine through a hole in the upper part of the genital organ

Highlander syndrome is a rare disease characterized by a delay in physical development, which makes the person look like a child when he or she is actually an adult. The diagnosis is basically made from physical examination, since the characteristics are very evident. However, it is not yet known what actually causes the syndrome, but scientists believe it is due to genetic mutations capable of slowing the aging process and thus delay the characteristic changes of puberty, for example

Arnold-Chiari syndrome is a rare genetic malformation in which there is central nervous system impairment and may result in impaired balance, loss of motor coordination, and visual impairment. This malformation is more common in women and usually occurs during the development of the fetus, where the cerebellum, which is the part of the brain responsible for balance, develops in an inadequate way

Red man syndrome is a condition that can occur immediately or within a few days of the use of the antibiotic vancomycin due to a hypersensitivity reaction to this drug. This medication can be used to treat orthopedic diseases, endocarditis and common skin infections but should be used with caution to avoid this possible reaction

Systemic epidermal necrolysis, or NET, is a rare skin disease characterized by the presence of lesions throughout the body that can lead to permanent skin peeling. This disease is mainly caused by the use of medicines like Allopurinol and Carbamazepine, but can also be the result of bacterial or viral infections, for example

Congenital glaucoma is a rare eye disease that affects children from birth to age 3, caused by increased pressure inside the eye due to fluid accumulation, which can affect the optic nerve and lead to blindness when left untreated. The baby born with congenital glaucoma has symptoms such as cloudy and swollen cornea and enlarged eyes

Fatal familial insomnia, also known by the acronym IFF, is a rare disease that affects a brain protein, causing incurable insomnia that can affect humans or animals and is most often discovered between the ages of 30 and 60. This disease is very serious and often leads to death, its causes are genetic, being frequent in the same family

Kawasaki syndrome is a rare disease characterized by inflammation of the wall of blood vessels leading to the appearance of rashes, fever, enlarged lymph nodes and, in some children, cardiac and joint inflammation. This disease is not contagious and occurs most often in children aged 5 years, especially boys

Paroxysmal nocturnal hemoglobinuria, also known as PNH, is a rare, genetic disease characterized by a change in the red blood cell membrane, leading to its destruction and elimination of red blood cell components in the urine, thus being considered a chronic hemolytic anemia. The nocturnal term refers to the period of the day when the highest rate of destruction of red blood cells was observed in people with the disease, but investigations have shown that hemolysis, that is, the destruction of red blood cells, occurs at any time of the day in people with hemoglobinuria

Dermatomyositis is a rare inflammatory disease that mainly affects muscles and skin, causing muscle weakness and skin lesions. It occurs most often in women and is more common in adults, but may occur in people under 16 years old, called dermatomyositis in children. Sometimes dermatomyositis is associated with cancer, and may be a sign of the development of some types of cancer such as lung, breast, ovary, prostate and colon cancer

Polymyositis is a rare, chronic and degenerative disease characterized by progressive inflammation of the muscles, causing pain, weakness and difficulty in performing movements. Inflammation usually occurs in muscles that are related to the trunk, that is, there may be involvement of the neck, hip, back, thighs and shoulders, for example

Horner's syndrome, also known as oculopathic palsy, is a rare disease caused by an interruption of nerve transmission from the brain to the face and eye on one side of the body, resulting in decreased pupil size, drooping eyelid, and decreased sweat on the side of the affected face. This syndrome can result from a medical problem, such as stroke, a tumor or injury to the spinal cord, for example, or even from an unknown cause

Berdon syndrome is a rare disease that mainly affects girls and causes problems in the intestines, bladder and stomach. Generally, people with this disease do not pee or poop and need to be fed by a catheter. This syndrome can be caused by genetic or hormonal problems, the symptoms arise soon after birth, which can be changes in the form and function of the bladder, which is usually very large, decrease or absence of bowel movements, which leads to the arrest of belly, in addition to decreasing the size of the large intestine and swelling of the small intestine

The headache in salvos has no cure because it is not known exactly what its cause and the medicines used although improving the intensity of the pain and decrease its frequency can not finally cease. The name headache in salvos is due to the characteristic of the disease. Headache indicates headache and in salvos means that it arises from time to time