Edwards syndrome

August 12, 2017 17:52 | Genetic Diseases

The frequency of Edwards syndrome is 1 in 5000-8000.The ratio between boys and girls born is 1: 3.This disease is characterized by underdevelopment of many organs and systems, as well as numerous malformations of fetal development.For timely diagnosis of the disease is used chi-pathogenetic study.The most common abnormality is found on the part of the musculoskeletal system, reproductive organs, the structure of the skull bones, the cardiovascular system and digestive system.

Violations of the musculoskeletal system appear incorrect development of the first fingers, and the first toe is short and wide, due to which the second toe is longer than it seems.It reveals the wrong anatomical structure of the foot, clubfoot, the heel acts, and foot arch sags.Toes on the foot and on the hands can be spliced ​​by skin folds.

During external examination noteworthy short rib cage.

Pathology from cardiovascular defects manifested ventricular structure and / or atrial walls, the absence of one of the aortic valve

and the pulmonary valve of the aorta, whereby the normal blood flow is disrupted.

Changes in the urogenital bubbles appear with fluid in the kidneys, coalescence, a doubling of the kidneys and / or ureters, increasing the clitoris in girls, undescended testes in the scrotum in boys.

.Changes in the cerebral and facial skull appear elongated shape of the skull, ears and planted low-twisted, small lower jaw, the high sky, in 5-7% of cases detected cleft palate.Disrupt the normal development of the basic structures of the brain, due to which there is neurological symptoms.

On the part of the digestive system may occur imperforate esophageal lumen, imperforate excretory ducts of the gallbladder and bile ducts, intestines gryzhepodobnye protrusions may be incomplete rotation bowel loops, abnormal location podzhel sedimentary prostate tissue.

Due to multiple malformations death in the majority of cases occur in the first year of life (more than 90% of cases).