Cimeter syndrome is a rare disease and is caused by the presence of a pulmonary vein, in the form of a Turkish sword called a scimitar, that drains the right lung into the vein in the lower cave instead of the left atrium. The change in the shape of the vein results in changes in […]
Cockayne syndrome is a rare and inherited disease that usually results in the deaths of children around age 6. Cockayne syndrome is caused by genetic mutations that prevent patients from being exposed to sunlight because, on contact with ultraviolet rays, they develop skin lesions, cataracts, enanism and premature aging, resulting in premature death. The symptoms
Riley-Day syndrome is a rare inherited disease that affects the nervous system, altering the functioning of sensory neurons, responsible for reacting to external stimuli, causing insensitivity in children, who do not feel the pain, pressure or temperature of external stimuli. People with this disease tend to die young, around 30 years of age, due to
Capgras syndrome, or Capgras illusion, is a psychological disorder in which the individual has the illusion that a friend, partner, family member or pets have been replaced by similar assumptions or “impostors”. People with Capgras syndrome recognize familiar faces, but they still believe this person is an impostor. This syndrome belongs to the group of
Pendred syndrome is a rare genetic disease characterized by deafness and enlarged thyroid, which results in the onset of goiter. This disease develops in childhood. Pendred syndrome is incurable, but there are certain medications that can help regulate thyroid hormone levels in the body or some techniques to improve hearing and language. Despite the limitations,
Birt-Hogg-Dubé syndrome is a rare genetic disease that causes skin damage, kidney tumors and cysts in the lungs. The causes of Birt-Hogg-Dubé syndrome are mutations in a 17 chromosome gene, called FLCN, which loses its function as a tumor suppressor and leads to tumors in individuals. Birt-Hogg-Dubé syndrome is incurable and treatment involves removing tumors
Irritable bowel syndrome is a gastrointestinal disorder that causes abdominal pain, constipation or diarrhea, and is a disease that affects women three times more than men. People with this syndrome are particularly sensitive to many stimuli, so stress, diet, medication or hormones can cause abnormal contractions in the gut or elsewhere in the gastrointestinal tract,
Schinzel-Giedion syndrome is a rare congenital disease that causes skeletal malformations, facial changes, urinary tract obstruction, and severe delays in infant development. Schinzel-Giedion syndrome is usually non-hereditary and can therefore occur in families without a history of the disease. Schinzel-Giedion syndrome has no cure. But surgeries can be performed to correct certain malformations and improve
Boerhaave syndrome is a rare problem that involves spontaneous appearance of a ruptured esophagus that causes symptoms such as severe chest pain and shortness of breath, for example. Boerhaave syndrome is usually caused by excessive consumption of food or alcohol that causes severe vomiting, increased abdominal pressure, and overload of esophageal muscles that eventually tear.
Lennox-Gastaut syndrome is a rare condition characterized by severe epilepsy diagnosed by a neurologist or neuropediatra, which causes seizures, sometimes with loss of consciousness, and is often accompanied by a delay in mental development. This syndrome occurs in children and is more common in males between the ages of 2 and 6 years of life,
