Usher syndrome is a rare genetic disease that occurs with congenital sensorineural hearing loss, progressive retinitis pigmentosa and vestibular ataxia. Depending on the type of syndrome, the following signs are present in patients: significant hearing loss or deafness, decreased vision, imbalance, cognitive disorders. Diagnostics includes ophthalmological (visometry, ophthalmoscopy, electroretinography), otoneurological (audiometry, vestibular tests), genetic examination.…
Ondine curse is an extremely rare genetic disease characterized by a violation of autonomous breathing as a result of an abnormal reaction of the body to hypercapnia during sleep. The main symptom of this condition is apnea during the deep sleep phase, which can lead to a fatal outcome, while any pathological changes from the…
It is difficult to imagine an insect that would cause more dislike than domestic cockroaches. But Japanese scientists have made them useful for people through the use of solar energy. Researchers from the Land of the Rising Sun use solar energy to track environmental changes at the expense of cockroaches. These insects have a unique…
Short QT syndrome is a new and still insufficiently studied variant of rhythm disturbance, which today stands out as an important proarrhythmogenic factor and predictor of sudden cardiac death. The development of this condition is associated with several genetic mutations. In most patients, the syndrome proceeds without clinical manifestations, less often it manifests dizziness, pre-fainting…
Long QT syndrome is a genetically heterogeneous hereditary condition characterized by a violation of the structure and functionality of some ion channels of cardiomyocytes. The severity of the manifestations of pathology varies very widely – from an almost asymptomatic course (only electrocardiological signs are detected) to severe deafness, fainting and arrhythmias. The definition of the…
Treacher Collins syndrome is a genetic (sometimes hereditary) disease accompanied by deformities of the bones and soft tissues of the face. The symptoms include gross defects in the structure of the face: anti-mongoloid eye incision, eyelid tissue clippings (colobomas), reduced jaw and cheekbones, hypoplasia and anomalies of ear structures, cleft or arched palate, enlarged mouth…
Morris syndrome is a hereditary disease characterized by the development of female sexual characteristics in the presence of a male karyotype (XY). The symptoms of this pathology have a wide range of severity – from a phenotypically full-fledged woman to a full-fledged man with a number of intermediate variants, on which the classification of this…
Stickler syndrome is a rare variant of hereditary collagenopathies, in which there is a violation of the structure of collagen types II, IX, XI. It is inherited by autosomal dominant and autosomal recessive mechanisms. The disease is manifested by progressive myopia with retinal detachment, damage to the osteoarticular apparatus, and characteristic phenotypic features. Diagnosis of…
Sotos syndrome is a rare genetic disease that manifests itself in various disorders of skeletal formation, mental retardation, abnormal facial features and disproportionality of body development. Symptoms of Sotos syndrome are high growth, increased size of the skull, feet and hands, macroglossia, delayed psychomotor development with a sharp acceleration of growth during puberty. The diagnosis…
Smith-Lemli-Opitz syndrome is a rare hereditary disease that is associated with a genetic defect in cholesterol metabolism. Occurs when the DHCR7 gene is mutated on the 11th chromosome, at the 11q12-q13 locus. Pathology is manifested by stunting, mental retardation, numerous bone anomalies and congenital malformations of internal organs. Diagnosis of the syndrome involves biochemical analyses,…