rare deseases

Riley-Day syndrome is a rare hereditary disease that affects the nervous system, damaging the functioning of the sensory neurons, responsible for reacting to external stimuli, causing insensibility in the child, who does not feel pain, pressure, or temperature of stimuli from the outside. The carriers of this disease tend to die young, around the age of 30, due to accidents that tend to happen because of the lack of pain

Maffucci Syndrome is a rare disease that affects the skin and bones, causing cartilage tumors, deformities in the bones and appearance of dark tumors in the skin caused by abnormal growth of blood vessels. The causes of Maffucci Syndrome are genetic and affect men and women alike. Usually, the symptoms of the disease develop in childhood around 4-5 years of age

Pierre Robin Syndrome, also known as the Pierre Robin Sequence , is a rare disease characterized by facial anomalies such as diminished jaw, tongue to throat, obstruction of the lungs and cleft palate. This disease is present from birth. Pierre Robin Syndrome has no cure , however there are treatments that help the individual to lead a normal and healthy life

Bartter's syndrome is a rare disease that affects the kidneys and causes loss of potassium, sodium, and chlorine through the urine. This disease lowers the concentration of calcium in the blood and increases the production of aldosterone and renin, hormones involved in controlling blood pressure

Scimitar Syndrome is a rare disease and arises due to the presence of a pulmonary vein, in the form of a Turkish sword called a scimitar, which drains the right lung into the inferior vena cava rather than into the left atrium of the heart. The change in vein shape causes changes in the size of the right lung, increased contraction force of the heart, deviation of the heart to the right side, decrease of the right pulmonary artery and abnormal circulation of blood to the right lung

Degos disease is a rare disease that affects many organs at the same time. The disease reaches the skin, eyes, the central nervous system, digestive systems, cardiovascular and respiratory osteomuscular leading the individual to death in a short time. The first symptoms of degos disease are the appearance of some small light spots on the skin, especially in the abdomen which then spreads throughout the body

Fanconi Syndrome is a rare kidney disease and leads to the accumulation of glucose, bicarbonate, potassium, phosphates and certain excess amino acids in the urine. In this disease there is also loss of protein by the urine and the urine becomes stronger and more acidic. Hereditary Fanconi Syndrome is caused by genetic changes that are passed from father to son

Conn Syndrome is a rare disease that affects the adrenal glands, which are small triangular glands located above the kidneys, which leads to excessive growth of the hormone aldosterone, increasing blood pressure. Overproduction of aldosterone causes retention of sodium in the kidneys and increases the excretion of potassium, causing accumulation of water in the body, increased blood pressure and increased blood pH

Cystic hygroma, also called lymphangioma, is a rare disease characterized by the formation of a benign cystic tumor that occurs due to poor formation of the lymphatic system during pregnancy or during adulthood, whose causes are not yet known fully enlightened. Usually your treatment is done using a technique called sclerotherapy, where a drug is introduced into the cyst that leads to its disappearance, but surgery may be indicated depending on the severity of the condition

The fetal cystic hygroma is characterized by the accumulation of abnormal lymphatic fluid located in a part of the baby's body that is identified on ultrasound during pregnancy. Treatment may be surgical or with sclerotherapy depending on the severity and the condition of the baby. Diagnosis of fetal cystic hygroma The diagnosis of fetal cystic hygroma can be made through an exam called nuchal translucency in the first, second or third trimester of gestation

The cystic hygroma has a cure, but it is possible that the tumor may come back after some time and it is not yet possible to explain the reason. The treatment for the cystic hygroma consists of the application of an injection with sclerotic substance that can destroy the fluid that fills the tumor. This fluid comes from the lymphatic circulation and although it is not known why it forms the cyst, some individuals can develop it in adult life

Rare diseases are those that affect relatively few people around the world and who have little scientific knowledge. They are harder to deal with and it is also difficult to find information about them. These are diseases that still need to be studied and many of them have no cure. Some examples of rare diseases are: Progeria : A disease in which the person begins to grow old very quickly; Porphyria : Causes purplish color in urine and teeth when attacked

Swyer's syndrome, or XY pure gonadal dysgenesis, is a rare disease where a woman has male chromosomes and so her sex glands do not develop and she does not have a very feminine image. Her treatment is done with the use of synthetic female hormones throughout life, but it is not possible to get pregnant

Sclerosing cholangitis is a rare disease that affects more men. It compromises the liver due to a narrowing of the channels through which the bile passes. Bile is a fundamental substance for the digestive process. Types of Sclerosing Cholangitis The types of sclerosing cholangitis are acute or chronic

Alpers syndrome or disease is a rare disease that affects children. This congenital disease damages the central nervous system and progresses to little causing the child not to develop properly. Symptoms of the disease may begin to be noticed in the first year of the baby's life, although there are cases where the first symptoms appear only around 5 years of age

Liposarcoma is a malignant tumor that develops in muscles, skin and fatty tissue. This tumor can metastasize to the lungs and liver. This type of tumor especially affects the men and it develops between the 30 and the 70 years of age, being characterized by the presence of a yellow mass that goes growing little by little, without causing pain

Batten's disease is a degenerative disease of the brain, which causes loss of acquired abilities until the onset of the symptoms that begin, usually manifesting at around 5 years of age. Children have normal development, and until the symptoms of Batten disease begin to manifest, such as: convulsions, vision problems, aggressive behaviors, learning difficulties, progressive loss of motor abilities, mental confusion and loss of balance

A rare neurological disease is Sturge-Weber syndrome in which the individual has seizures since birth. The syndrome also involves congenital glaucoma and the child has some red spots on the face at birth due to poor local vascularity. These spots usually affect only one side of the body and rarely can the neck and trunks also present them

Moebius syndrome is a birth disease with no known cause, although it is associated with failed abortion attempts. The baby born with mojios syndrome has paralyzed facial nerves and is usually born with crooked feet and therefore needs to perform corrective surgeries. People who have this syndrome, besides not being able to make facial expressions, also have difficulty speaking and eating, but they do not present any deficiency in the cerebral level, they are therefore very intelligent children, although they can not demonstrate because it has difficulty in expressing itself both through speech

Not being afraid of anything is the main symptom of a rare disease called Urbach-Wiethe's disease. Individuals with this disease are strangely not afraid of anything because the part of their brain that commands the sensation of fear and danger is "disconnected". Scientists have sought answers to this disease because they may be able to explain and create effective treatment for individuals suffering from post-traumatic stress, such as soldiers returning from the war and not even leaving home, of so much fear