May
23
23:00
Genetic Diseases

Marble bone disease

Marble disease Marble disease (Albers-Schonberg syndrome, congenital osteosclerosis, osteopetrosis, giperostoticheskaya dysplasia) - a rare disease dysplastic nature, which is manifested by diffuse osteosclerosis almost all bones of th...
May
23
23:00
Genetic Diseases

Sjogren syndrome

Sjogren's syndrome Sjogren's syndrome (dry syndrome) - an inflammatory systemic failure of the connective tissue, which is characterized by involvement in the pathological process of the salivary glands, lacrimal glands, glands and muc...
May
23
23:00
Genetic Diseases

Cerebromedullary malformation syndrome

Syndrome Arnold Chiari Syndrome Arnold - Chiari syndrome (anomalies Arnold - Chiari) - congenital abnormality of the brain, which appears inconsistent with the size of the posterior fossa, and are in the area of ​​brain structures, so ...
May
22
23:00
Genetic Diseases

Gilbert's syndrome

Gilbert's syndrome Gilbert's syndrome (Gilbert's disease, hereditary pigmentary hepatotoxicity, hyperbilirubinemia Gilbert, benign familial non-hemolytic hyperbilirubinemia, fermentopaticheskaya hyperbilirubinemia) - congenital disease...
May
22
23:00
Genetic Diseases

Williams Syndrome

Williams Syndrome Williams Syndrome - a rare congenital genetic disease, which manifests itself in violation of intellectual development and characteristic of the disease appearance.It is due to a specific appearance, the syndrome is a...
May
22
23:00
Genetic Diseases

Lejeune syndrome

Syndrome Lejeune Lejeune syndrome is an inherited genetic disorder associated with a change in the structure of the fifth chromosome.The disease was named after the French scientist Jérôme Lejeune in 1963.This disease is characterized ...
May
21
23:01
Genetic Diseases

Fraser Syndrome

Syndrome Fraser Fraser syndrome - a combination of Cryptophthalmos with urogenital anomalies and akrofatsialnymi.For the first time the syndrome was described by S. Fraser in 1962.The frequency of this anomaly is 4 cases per 1 million ...
May
21
23:01
Genetic Diseases

Down Syndrome

Down Syndrome At all times, children were born with Down syndrome, but the syndrome was first described by English physician John Down in 1886.And already the mystery of this syndrome - an extra forty-seventh chromosome opened in 1959,...
May
21
23:01
Genetic Diseases

Patau Syndrome

Patau Syndrome Patau Syndrome (trisomy of chromosome 13 syndrome) - a serious incurable hereditary chromosomal disorder in which the patient present an extra copy of chromosome 13 (trisomy 13).The incidence of Patau syndrome among ne...
May
20
23:01
Genetic Diseases

Sachs' disease

Tay-Sachs disease Tay-Sachs disease - a serious hereditary disease characterized by progressive motor impairment and mental retardation as a result of the defeat of the meninges of the child.During the first six months of life, the dev...
1 3 4 5