Syndrome Shereshevsky-Turner - a disease that occurs when anomalous development of sex chromosomes( instead of inherent in the female body of XX sex chromosomes, there is only one, the set of chr...

Family hypophosphatemic rickets, or phosphate-diabetes, or vitamin-D-resistant rickets( HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS; HPDR; 307800), was first described by Albrigt et al.in 1937X-...

Celiac disease( or gluten enteropathy, Guy-Herter-Geibner disease, non-tropical spruce, intestinal infantilism, flour disease) is an intestinal disease that has a genetic cause and is characteriz...

Cystic fibrosis is a systemic hereditary disease in which a mutation of the protein involved in the transport of chloride ions through the cell membrane arises, resulting in disorders in the func...

Gilbert syndrome is a genetic disease characterized by impaired bilirubin utilization. The liver of patients improperly neutralizes bilirubin, and it begins to accumulate in the body, causing var...

Tourette's syndrome is a neurological disorder with a genetic predisposition that manifests itself in early childhood or in adolescence under the age of 18.Tourette's syndrome is determined by th...

The heart of a man is laid at the end of the third week of pregnancy and develops throughout the intrauterine period. In the process of its development, not only the cardiac muscle( myocardium) i...

Alport syndrome is a hereditary disease characterized by a progressive decrease in kidney function in combination with the pathology of hearing and vision. In Russia, the incidence of the di...

Marfan syndrome refers to monogenic connective tissue diseases - a group of nosological forms of different origin that combine hereditary connective tissue dysfunction. Most of this pathology is ...

Causes of congenital heart disease Symptoms Diagnosis Treatment Lifestyle with heart disease Forecast As you know, the heart is an important organ in the human body, the well-being of the...

Down syndrome( a pathology, also called trisomy 21) is a genetic disorder that occurs in about 1 in 800 newborns. It is the leading cause of cognitive impairment. Down's syndrome is associated wi...

Edwards syndrome is a form of rare genetic disease when a part of the human 18-chromosome is duplicated. Most children with this pathology die at the stage of embryonic development, this occurs i...

Interventricular septal defect( VSD) is a congenital heart disease characterized by a defect in the muscular septum between the right and left ventricles of the heart. VSD is the most common cong...