Edward's Syndrome

The incidence of Edwards syndrome is 1 to 5000-8000.The ratio between born boys and girls is 1: 3.This disease is characterized by underdevelopment of many organs and systems, as well as numerous defects of intrauterine development. For a timely diagnosis of the disease, a cyto-genetic study is used. The most common pathology is found in the musculoskeletal system, genital organs, the structure of the bones of the skull, the cardiovascular system, and the digestive system.

Disorders of the musculoskeletal system are manifested by the abnormal development of the first finger of the hand, and the first toe of the foot is short and wide, whereby the second toe appears longer. The wrong anatomical structure of the foot, clubfoot, heel protrudes, and the arch of the foot sags. Fingers on the foot and on the hands can be spliced ​​due to skin folds.

In case of external examination, a short rib cage attracts attention.

The pathology of the cardiovascular system is manifested by defects in the structure of the interventricular and / or atrial septa, the absence of one of the valves of the aortic valve or the pulmonary aortic valve, which disrupts normal blood flow.

Changes in the urogenital area are manifested by vesicles with fluid in the kidneys, fusion, doubling of the kidneys and / or ureters, an increase in the clitoris in girls, undescended testicles in the scrotum in boys.

.Changes from the cerebral and facial skulls are manifested by the elongated shape of the skull, the ears are set low and deformed, the small lower jaw, the high palate, in 5-7% of cases a cleft palate is revealed. The normal development of the main brain structures is broken, due to which neurological symptoms appear.

On the part of the digestive organs may occur infection of the lumen of the esophagus, infection of the excretory ducts of the gallbladder and bile ducts, hernial intussus protrusions, there may be an incomplete rotation of the intestinal loops, an abnormal tissue arrangement of the pancreas of the mammary gland.

Due to multiple malformations, most deaths occur in the first year of life( more than 90% of cases).