Genetic diseases 2024, December

Edwards' syndrome (trisomy 18) is a rare genetic disease in which an additional, third, chromosome 18 appears in DNA - the so-called 18th pair chromosome trisomy. This defect is the cause of abnormalities in the structure of many of the child's organs and the accompanying dysfunctions. Edwards' syndrome occurs once in 5,000 (according to other data, once in 3,500) births, especially in girls - four times more often than in boys.…

Patau syndrome, or chromosome 13 trisomy, is a complex of complex birth defects. The risk of this lethal genetic disease increases in women who ...…

Alport syndrome is a progressive genetic kidney disease characterized by haematuria, often associated with neurogenic deafness and changes to the area of ​​...…

In the 31st week of pregnancy, Martynka's parents heard that their daughter would be born still. Earlier examinations did not reveal any abnormalities. The girl was born ...…

Muscular dystrophy is an inherited degenerative disease of muscle tissue. There are several types of dystrophy, and their symptoms vary depending on ...…

Familial hypercholesterolaemia (familial hyperlipidemia) proves that high cholesterol is not always the result of dietary mistakes and lack of exercise. His pr ...…

Turner syndrome is an inherited genetic disorder that occurs only in women and is caused by the absence or incomplete development of the X chromosome. Early diagnosis enables ...…

Prader-Willi syndrome is a genetically determined syndrome of developmental defects. One of the characteristic symptoms of the disease is the constant feeling of hunger, which will lead to ...…

Klinefelter's syndrome is a genetic disease that only affects men. As a result of chromosomal aberrations, most of them are practically unable to produce ...…

Hemochromatosis is a metabolic disease, the essence of which is the excessive accumulation of iron in the body. While the deficiency of this element rarely leads to death ...…

Alagille syndrome is a rare, multi-organ genetic disease. People struggling with Alagille syndrome suffer, inter alia, from for chronic cholestasis, which manifests ...…

Cystic fibrosis is a genetic disease that is most often associated with the respiratory system - abnormalities in the lung function are observed in as many as 90 percent of patients ...…

Interview with Nikola, who suffers from spinal muscular atrophy, or SMA.…

The diagnosis came after eight years of incorrect treatment and came as a shock: Asia suffered from an ultra-rare genetic disease. Her muscles gradually changed ...…

Down syndrome (trisomy 21) is not a disease, but a gene defect caused by an extra chromosome 21. What is its cause, course and diagnosis.…

Gardner's syndrome is one of the types of familial polyposis consisting in the presence of numerous polyps in the colon, osteomas (especially in the mandible and bone ...…

Rare diseases, despite the enormous advances in medicine, are still not fully researched. Some of them, due to the sporadic nature of the recorded cases, remain before ...…

MELAS syndrome is a complex genetic disease that affects children and young adults. It manifests itself with progressive damage and the development of brain dysfunction, m ...…

CLN2 (neuronal ceroid lipofuscinosis type 2) is also referred to as childhood dementia. In a relatively short time after birth, the baby not only begins to reverse ...…

Fatal familial insomnia (FFI) is an incurable disease of the brain. Only 28 families worldwide suffer from it. It's a dangerous c ...…

Menkes disease, or curly hair disease, is a disease in which, as a result of copper deficiency, the hair is damaged ...…

Ehlers-Danlos syndrome is a group of rare genetic diseases characterized by joint hypermobility and delicate, over-stretchy skin. Sick with E ...…

Can Diet Change Our Genes? Could Our Childhood Traumas Affect Our Children and Grandchildren? These questions can be answered by epigenetics or ...…