beckwith-wiedemann syndrome

Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann syndrome is a complex multigenic pathology, which is manifested by multiple congenital malformations. The disease occurs with various genetic abnormalities of chromosome 11 in combination with epigenetic disorders. The triad of signs of Beckwith-Wiedemann disease includes macroglossia, omphalocele, macrosomia. Various somatic pathologies are also observed. Diagnostics is represented by genetic research, visualization of internal…

arts syndrome

Arts Syndrome

Arts syndrome is a rare genetic X-linked disease that is characterized by a violation of the synthesis of purine compounds. Pathology occurs when there is a mutation in the PRPS1 gene. The main clinical manifestations include delayed psychomotor development, sensorineural hearing loss, multiple coordination disorders. Diagnosis of the syndrome involves genetic research, ENMG, MRI of…

apert syndrome

Apert Syndrome

Apert syndrome is a genetic disease characterized by disorders of the processes of ossification of the skull and related secondary disorders, as well as numerous malformations of the skeleton and limbs. Symptoms of this condition are dwarfism, the tower shape of the skull, an enlarged bridge of the nose, non-infection of the hard palate, syndactyly…

andersen syndrome

Andersen Syndrome

Andersen syndrome is a rare hereditary pathology characterized by an extended QT interval and high–amplitude U teeth on the ECG, ventricular arrhythmia, attacks of muscle paralysis, the presence of external signs of dysmorphic genesis. Patients have low-set ears, a wide forehead, an abnormally enlarged jaw, a stable deformation of the fingers with fusion and webbing,…

angelman syndrome

Angelman Syndrome

Angelman syndrome is a genetic disease characterized by the presence of neurological symptoms, mental retardation. It is manifested by intellectual lag, poor formation of speech, sitting and walking skills, chaotic movements, hyperactivity, symptomatic epilepsy, causeless fun and laughter, scoliosis, peculiar gait. Patients have a special appearance: the mouth is large, the teeth are rarely located,…

alström syndrome

Alström Syndrome

Alström syndrome is a genetic pathology in which obesity, retinitis pigmentosa, type 2 diabetes mellitus, sensorineural hearing loss, cardiopathy, nephropathy develops. Already in the first decade of life, there is a progressive decrease in vision and hearing, in the future, insulin resistance, hypertension, heart failure, proteinuria, hypogonadism are added. To confirm the diagnosis, EchOX, ophthalmoscopy,…

alport syndrome

Alport Syndrome

Alport syndrome is a hereditary kidney disease caused by a change in the synthesis of type IV collagen, which forms the basement membranes of the renal glomeruli, the structure of the inner ear, and the lens of the eye. Men suffer from a developed form of the disease with severe symptoms. Women are often carriers…

alagille syndrome

Alazhil Syndrome

Alagille syndrome is a rare genetic disease in which disorders of the hepatobiliary and cardiovascular systems are combined with abnormalities in the development of the skeleton. Characteristic symptoms appear in a child from the first months of life and include jaundice, itching, nutritional insufficiency, lagging rates of psychomotor development. Ultrasound and liver biopsy, echocardiography, biochemical…