Kartagener syndrome is a genetic disease characterized by changes in the structural organization of the cilia that line the respiratory tract. See what are the symptoms of this syndrome and how to treat it.
Hugles-stovin syndrome is a very rare and serious disease that causes multiple aneurysms in the pulmonary artery and deep vein thrombosis.
Kallman's syndrome is a rare genetic disease that is characterized by a delay in puberty and a reduction or absence of smell, due to a deficiency in the production of gonadotropin-releasing hormone. See what causes and symptoms and how treatment is done
Pendred's syndrome is a rare genetic disease that is characterized by deafness and an enlarged thyroid, resulting in the appearance of goiter. This disease develops in childhood. Pendred syndrome has no cure, but there are some medications that can help regulate ...
Klinefelter syndrome is a rare genetic disorder that affects boys and can cause physical characteristics such as breast enlargement and high-pitched voice.
Lynch syndrome is a rare genetic disease that increases the risk of colon or bowel cancer and can even cause this cancer to appear in young people. Usually families with Lynch syndrome have an abnormally high number of cancer cases in the ...
Leigh's syndrome is a rare genetic disease that causes the progressive destruction of the central nervous system, thus affecting the brain, spinal cord or optic nerve, for example. Generally, the first symptoms appear between 3 months and 2 years of age and include loss of abilities ...
Lesch-Nyhan syndrome is a hereditary disease, which mainly affects men, causing mental retardation, aggressive behavior, self-mutilation such as biting fingers and lips and increased production of uric acid, which results in complications such as kidney stones and gouty arthritis. At the...
What it is: Polycystic ovary syndrome is characterized by the presence of several cysts inside the ovaries due to a hormonal imbalance. In these women the concentration of testosterone in the bloodstream is higher than it should be and this can bring some complications, ...
What it is: Evans syndrome, also known as anti-phospholipid syndrome, is a rare autoimmune disease, in which the body produces antibodies that destroy the blood. Some patients with this disease may have only the white cells destroyed or only the red cells, but the whole ...
Ohtahara syndrome is a rare type of epilepsy that appears before 3 months of age and causes delay in the baby's motor and cognitive development
Irlen's syndrome is characterized by difficulty in focusing words, sensitivity to light and difficulty in distinguishing two or more words. Understand what is Irlen syndrome, symptoms and treatment.
Moebius syndrome is a rare disorder in which the child is born with difficulty moving the muscles of the face. See other features that can help identify the syndrome and how treatment can be done
Pfeiffer syndrome is a rare disease that occurs when the bones that form the head unite earlier than expected, in the first weeks of pregnancy, which leads to the development of deformities in the head and face. In addition, another characteristic of this syndrome is the union ...
The diagnosis of Down Syndrome can be made with exams during pregnancy or by the characteristics of the baby after birth. Find out how it's done.
Ondine's syndrome, also known as congenital central hypoventilation syndrome, is a rare genetic disease that affects the respiratory system. People with this syndrome breathe very lightly, especially during sleep, which causes a sudden decrease in ...
Maroteaux-Lamy Syndrome or Mucopolysaccharidosis VI is a rare hereditary disease, in which patients have the following characteristics: Short stature, facial deformities, short neck, recurrent otitis, diseases of the respiratory tract, skeletal malformations and stiffness ...
What it is: Hunter Syndrome, also known as Mucopolysaccharidosis type II or MPS II, is a rare genetic disease more common in men characterized by the deficiency of an enzyme, Iduronate-2-Sulfatase, which is important for the correct functioning of the body. Because...
Maffucci syndrome is a rare disease that affects the skin and bones, causing tumors in the cartilage, bone deformities and the appearance of dark skin tumors caused by abnormal growth of blood vessels. The causes of Maffucci's Syndrome are genetic and affect equally ...
What it is: Morquio's Syndrome is a rare genetic disease in which spinal growth is impeded when the child is still developing, usually between 3 and 8 years old. This disease has no treatment and affects, on average, 1 in 700 thousand people, with ...
What it is: Reye's syndrome is a rare and serious disease, often fatal, which causes inflammation of the brain and rapid accumulation of fat in the liver. Generally, the disease is manifested by nausea, vomiting, confusion or delirium. The causes of Reye's Syndrome are related to certain ...
This is an extremely rare disease that causes abnormalities in the face and larynx, as well as deformities in the baby's feet and hands. Know what causes it.
Pierre Robin Syndrome, also known as Pierre Robin Sequence, is a rare disease that is characterized by facial anomalies such as a decreased jaw, a fall of the tongue to the throat, obstruction of the pulmonary pathways and a cleft palate. This disease has been present since birth.
What it is: Shy-Drager syndrome, also called Multiple System Atrophy with orthostatic hypotension, is a rare disease, of unknown cause, characterized by severe and progressive impairment of the central and autonomic nervous system, which controls the functions ...
What it is: Wiskott-Aldrich syndrome is a genetic disease, which compromises the immune system involving T and B lymphocytes, and blood cells that help control bleeding, platelets. Symptoms of Wiskott-Aldrich Syndrome Symptoms of Wiskott-Aldrich Syndrome ...
Kawasaki syndrome is a rare, non-contagious disease that occurs mainly in children characterized by high and persistent fever and red and swollen lips and tongue.
What it is: Swyer's syndrome, or pure gonadal dysgenesis XY, is a rare disease where women have male chromosomes and therefore their sex glands do not develop and she does not have a very feminine image. Its treatment is made with the use of synthetic female hormones ...
A rare and 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 vascularization. These spots ...
The Syndrome of Savant or Syndrome of the Sage because Savant in French means sage, is a rare psychic disorder where the person has serious intellectual deficits. In this syndrome, the person has serious difficulties in communicating, understanding what is transmitted to him and establishing ...
This is a very rare syndrome that can be diagnosed only after the age of 16 and that can cause the vagina to be absent in women. Understand.
Schinzel-Giedion Syndrome is a rare congenital disease that causes the appearance of malformations in the skeleton, changes in the face, obstruction of the urinary tract and severe developmental delays in the baby. Generally, Schinzel-Giedion Syndrome is not hereditary and, therefore, ...
Mioneural Tension Syndrome or Myositis Tension Syndrome is a disease that causes chronic pain due to muscle tension caused by repressed emotional and psychological stress. In Mioneural Tension Syndrome, unconscious emotional problems such as anger, fear, resentment or ...
Weaver's syndrome is a rare childhood condition that causes overgrowth and lack of strength, as well as wide eyes and a large forehead.
Sanfilippo Syndrome is a genetic disease characterized by decreased activity of enzymes responsible for degrading molecules, which start to accumulate inside cells, resulting in symptoms that can be disabling. See what are the symptoms of Sanfilippo Syndrome ...
In West's syndrome the baby has frequent epileptic seizures that can cause severe brain changes.
Irritable bowel syndrome is a gastrointestinal disorder that produces abdominal pain, constipation or diarrhea, and is a disease that affects women three times more often than men. People with this syndrome are especially sensitive to many stimuli, so ...
Marfan syndrome is a genetic disease that affects connective tissue caused by a hereditary defect in the body's elastic fiber gene. This disease can lead to changes in the bones, heart and spine. Learn more about the signs and symptoms and how the treatment is done
