rare deseases

Mast cell activation syndrome is a rare disease that affects the immune system, leading to the emergence of allergy symptoms that affect more than one organ system, especially the skin and the gastrointestinal, cardiovascular and respiratory systems. Thus, the person may have allergy symptoms on the skin such as redness and itching, as well as nausea and vomiting, for example

Incarceration Syndrome, or Locked-In Syndrome, is a rare neurological disease, in which paralysis occurs of all muscles of the body, except for the muscles that control the movement of the eyes or the eyelids. In this disease, the patient is 'trapped' within his own body, unable to move or communicate, but remains conscious, perceiving everything that happens around him and his memory remains intact

Pfeiffer's syndrome is a rare disease that occurs when the bones that form the head are united earlier than expected in the first weeks of gestation, which leads to the development of deformities in the head and face. In addition, another characteristic of this syndrome is the union between the little fingers of the baby's hands and feet

In childhood urticaria vasculitis, the child has round or red or purple spots on the skin, which appear suddenly, but usually the child seems to be well without appearing to be sick. This disease has only 1 episode in life. It is also called acute hemorrhagic edema and is a rare disease, which mainly affects babies from 3 months to 2 years of life, but although not very common, it can also affect newborns and children up to 5 years of age, especially those with atopic skin, with a tendency to allergies

The disease is Haff is a rare disease that causes intense pain in the muscles, which arises suddenly, in addition to black urine 24 hours after consumption of contaminated freshwater fish. It is believed that fish must be contaminated with some biological toxin but since the onset of this disease in the 1920s, to this day this toxin has not yet been identified

Bornholm's disease, also known as pleurodynia, is a rare infection of the rib muscles that causes symptoms such as severe chest pain, fever, and generalized muscle pain. Usually, the virus that causes this infection, and which is known as Coxsackie B virus, is transmitted by food or objects contaminated by feces, but can also arise after being in contact with someone infected as it can pass through the cough

The only headache on one side of the face, which is very strong, lancinating and that appears during sleep is the main characteristic of headache in salvos, a rare disease, much stronger and incapacitating than migraine, being known as the worse pain we can feel, being stronger than a renal, pancreatic or painful birth

Sleeping beauty syndrome is scientifically called Kleine-Levin syndrome. This is a rare disease that manifests itself initially in adolescence or early adulthood. In it, the person suffers periods in which he passes sleeping days, which can vary from 1 to 3 days, waking up irritated, agitated and eating compulsively

Neuroleptic malignant syndrome is a serious reaction to the use of neuroleptic drugs, such as Haloperidol or Chlorpromazine. Although rare, this syndrome can be life-threatening if treatment is not started quickly and therefore it is necessary to be alert to possible symptoms after the use of neuroleptics

Savant syndrome or Sage Syndrome because Svant in French means wise, it is a rare psychic disorder where the person has severe intellectual deficits. In this syndrome, the person has serious difficulties in communicating, understanding what is transmitted and establishing interpersonal relationships

Prosopagnosia is a disease that prevents the recognition of facial features, which can also be known as 'blindness to features'. This disorder, which affects the visual cognitive system, results in the inability to remember the faces of friends, family members or acquaintances. In this way, the features of the face do not provide any kind of information for these people since there is no ability to associate faces with each person

The tetralogy of Fallot is a rare genetic disease that arises due to four changes in the heart, which modify its functioning and reduce the amount of blood with oxygen that is pumped. In this way, children with this type of cardiac abnormality usually present a bluish coloration throughout the skin due to the lack of oxygen in the tissues

In the syndrome of the rigid person the individual presents intense stiffness that can manifest in all body or only in the legs, for example. When these are affected, the person can walk like a soldier because he can not move his muscles and joints very well. This is an autoimmune disease that usually manifests itself between 40 and 50 years of age and is also known as Moersch-Woltmann syndrome or in English, Stiff-man syndrome

Aase Syndrome, also known as Aase-Smith Syndrome, is a rare disease that causes problems like constant anemia and malformations in the joints and bones of various parts of the body. Some of the most common malformations include: Joints, fingers or toes, small or absent; Cleft palate; Deformed ears; Drooping eyelids; Difficulty in stretching the joints completely; Narrow shoulders; Very pale skin; Gut joint in thumbs

Congenital myasthenia is a disease that involves the neuromuscular junction and therefore causes progressive muscle weakness, often leading the person to having to walk in a wheelchair. This disease can be discovered in adolescence or adulthood and depending on the type of genetic alteration that the person has, can be cured with the use of medications

Holt-Oram syndrome is a rare genetic disorder that causes deformities in the upper limbs such as hands and shoulder and heart problems such as arrhythmias or small malformations. This is a disease that often can only be diagnosed after the child is born and although there is no cure, there are treatments and surgeries that aim to improve the quality of life of the child

Hypophosphatasia is a rare genetic disease that especially affects children, which causes deformations and fractures in some regions of the body and premature loss of milk teeth. This disease is passed on to the children in the form of genetic inheritance and has no cure, being the result of alterations in a gene related to the calcification of the bones and development of the teeth, impairing the mineralization of the bones

Spring pregnancy, also called a molar pregnancy or hydatidiform mole, is a rare pregnancy complication that leads to spontaneous abortion and can be classified as complete or partial. In full-term pregnancy the fetus receives only the father's cells duplicated and in the partial the fetus receives the duplicate cells from the father plus the cells from the mother

Machado-Joseph disease is a rare genetic disease that causes continuous degeneration of the nervous system, causing loss of muscle control and coordination, especially in the arms and legs. Usually, this disease arises after the age of 30, installing itself progressively, affecting primarily the muscles of the legs and arms and progressing over time to the muscles responsible for speech, swallowing and even eye movement

Hugles-stovin syndrome is a very rare and serious disease that causes multiple aneurysms in the pulmonary artery and several cases of deep vein thrombosis during life. Since the first description of this disease worldwide, fewer than 40 people have been diagnosed by the year 2013. The disease can occur in 3 different stages, where the first stage usually manifests with thrombophlebitis, the second stage with pulmonary aneurysms, and the third and last stage is characterized by the rupture of an aneurysm that can cause coughing with blood and death