Klinefelter syndrome is a rare genetic disorder caused by the presence of an extra X chromosome in boys. This chromosomal anomaly (XXY instead of XY) causes changes in physical and cognitive development, generating characteristics such as breast enlargement, lack of body hair or delayed development of the penis. The diagnosis of Klinefelter syndrome is usually […]
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Rett syndrome is a rare genetic condition that mainly affects girls and that damages the central nervous system, causing delays in physical and neurological development, generating typical characteristics and symptoms, such as frequent irritability, convulsions and involuntary movements. Children with Rett syndrome may experience adequate childhood development between the first 6 to 18 months of […]
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Prader-Willi syndrome is a rare genetic disease that can cause learning and speech difficulties, behavioral changes, muscle weakness and delayed child development. Furthermore, another very common characteristic of this disease is excessive hunger, especially between 1 and 6 years of age, which can cause weight gain, causing health problems such as obesity, high blood pressure […]
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Asherman syndrome is a rare condition characterized by the presence of scars inside the uterus, which can accumulate, causing symptoms such as severe cramps, absent or small periods, and difficulty getting pregnant. Asherman’s syndrome, or uterine synechiae, can be caused by trauma to the uterus such as surgical scraping, removal of fibroids or polyps or […]
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Broken heart syndrome is a rare disease that causes symptoms similar to those of a heart attack, such as chest pain, shortness of breath, dizziness, vomiting or tiredness. The most common cause of this syndrome is intense emotional or physical stress, due to a separation process or after the death of a family member, for […]
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HELLP syndrome is a pregnancy complication characterized by the destruction of red blood cells, an increase in liver enzymes and a decrease in the number of platelets in the blood. It is most common after 28 weeks of pregnancy. This syndrome can cause symptoms such as general malaise, nausea, vomiting, headache and/or pain on the […]
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Down syndrome is a genetic condition caused by a mutation in chromosome 21, causing the child to be born with specific physical characteristics such as slanted eyes, short stature or a large tongue, for example, in addition to being able to cause a series of problems with health for the child, such as heart failure […]
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Treatment for Down syndrome includes physiotherapy, occupational therapy, speech therapy and school support measures, depending on each person’s needs, in addition to regular follow-up with a doctor. Down syndrome is a genetic condition and, although it has no cure, through treatment it is possible to help affected children develop their physical and intellectual abilities, especially […]
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The diagnosis of Down syndrome can be made during pregnancy through specific tests such as nuchal translucency, cordocentesis and amniocentesis, which not every pregnant woman needs to do, but which is normally recommended by the obstetrician when the mother is over 35 years old or when the pregnant woman has Down syndrome. These tests can […]
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Irritable bowel syndrome is a gastrointestinal disorder characterized by inflammation of the villi of the large intestine, causing symptoms such as periods of diarrhea alternating with constipation, abdominal pain or bloating in the belly. The exact cause of this syndrome, also known as irritable bowel syndrome, is not fully known, but it is known that […]
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