dandy-walker syndrome

Dandy-Walker Syndrome

Dandy-Walker syndrome is a congenital pathology of the nervous system, which is characterized by a triad of signs: hydrocephalus, hypoplasia or aplasia of the cerebellum, cysts of the posterior cranial fossa. The disease has a polyethological nature, among the provoking factors are genetic anomalies, teratogenic effects. Clinical symptoms include classic signs of hydrocephalus, various neurological…

dubin-johnson syndrome

Dubin-Johnson Syndrome

Dubin-Johnson syndrome is a chronic hereditary disease characterized by a violation of the release of bilirubin from hepatocytes into bile. The main clinical manifestation is intermittent jaundice. The disease is also characterized by dyspeptic disorders, decreased appetite and deterioration of general well-being. Diagnosis includes biochemical blood and urine tests, bromsulfalein assay, instrumental techniques (ultrasound, laparoscopy,…

hurler syndrome

Hurler Syndrome

Hurler syndrome is a severe hereditary metabolic metabolic disease from the group of mucopolysaccharidoses, characterized by excessive accumulation of glycosaminoglycans (GAG) in various organs and tissues, which leads to their pronounced dysfunction. The clinical picture is extremely diverse, including delayed psychomotor development, gross deformities of the bones of the skull and skeleton, cardiopulmonary disorders, etc.…

goldenhar syndrome

Goldenhar Syndrome

Goldenhar syndrome is a rare congenital disease that manifests itself with multiple malformations, pronounced clinical polymorphism. Occurs due to mutation of genes localized in chromosomes 5, 14, 20. The syndrome is characterized by various anomalies of the facial skeleton, pathologies of the sensory organs, often the disease is accompanied by a delay in mental development.…

hermansky-pudlak syndrome

Hermansky-Pudlak Syndrome

Hermansky-Pudlak syndrome is a hereditary disease caused by point mutations of the HPS1, HPS4, AP3B1 genes, etc. Pathology is characterized by congenital cellular immunodeficiency, disorders of platelet aggregation, depigmentation. Also, those suffering from Germansky-Pudlak syndrome have recurrent infections, pulmonary fibrosis, granulomatous colitis. Diagnosis of the disease involves immunological and genetic tests, ophthalmological examination, various methods…

gardner syndrome

Gardner Syndrome

Gardner syndrome is a hereditary disease accompanied by polyposis of the large intestine in combination with benign neoplasia of the skin, bones and soft tissues. It can be asymptomatic for a long time. Bloating, rumbling and stool disorders are possible. In some cases, intestinal polyposis is complicated by bleeding or intestinal obstruction. There is a…

wolfram syndrome

Wolfram Syndrome

Wolfram syndrome is a complex of multiple organ disorders caused by genetic causes, including diabetes mellitus and diabetes insipidus, sensorineural hearing loss, optic nerve atrophy. Other components of the syndrome may be urinary tract dilation, ataxia, myoclonia, apnea attacks, etc. The diagnosis is established by sequencing the WFS1 gene. Additional examination includes blood biochemistry (sugar,…

wolf-hirschhorn syndrome

Wolf-Hirschhorn Syndrome

Wolf-Hirschhorn syndrome is a rare genetic anomaly in which a part of the short arm of the 4th chromosome is deleted, which is accompanied by mutations of the genes WHSC1, WHSC2, LETM1. The disease is manifested by multiple defects in the formation of the facial skeleton, congenital cardiovascular abnormalities, and delayed psychomotor development. The syndrome…