Genetic diseases

Edwards Syndrome

Syndrome Edwards

Edwards syndrome Edwards syndrome (trisomy of chromosome 18 pair) - the second most common chromosomal disorder after Down's syndrome, which is characterized by numerous defects fetal development, as well as underdevelopment of many systems and organs.The incidence of the syndrome Edwards 1: 5000/7000, and the boys get sick about three times less often than girls.

Due to numerous malformations observed early mortality of children with this disorder.Even despite the fact that children with Edwards' syndrome are born in due time, they have low physical activity, and a significant reduction in body weight.In children with this syndrome is almost no physical and mental development, so that the boys with this disorder in most cases die within the first ten days after birth;girls can live up to six months (sometimes up to one year)

Edwards syndrome symptoms and signs

- Low body weight (an average of 2,170 grams) at birth

- Significant delay physical and mental development

- Due to the difficulty inswallowing are observed feeding problems

- specific syndrome Edwards' appearance: a deformed flattened laterally skull, a stretched neck and low forehead (sometimes hydrocephaly or microcephaly), curved shape of the nose, small lower jaw and mouth, deformed low-set ears, shortsternum, narrow little eyes, deformed limbs

- Quite often, there are malformations of major blood vessels and heart muscle

- In girls, there is a hypertrophy of the clitoris, and the boys anomaly structure of the penis or undescended testes in the scrotum

- From thekidney there are clear signs of hydronephrosis

- Gastro - intestinal tract observed imperforate excretory ducts of the bile ducts and gall bladder, imperforate lumen of the esophagus, incomplete rotation intestinal loops, gryzhepodobnoe protrusion of the intestine

Edwards syndrome diagnosis

diagnosis of this syndrome iscarrying chromosomal tests.During pregnancy, even in spite of the fact that in the entire period of gestation performed fetal ultrasound - Edwards syndrome diagnosis more difficult.These ultrasound studies indicate only indirect signs, which may eventually lead to Edwards syndrome (hypoplasia or absence of the navel channel umbilical artery, the small magnitude of the placenta).In the first three months of pregnancy, using ultrasound impossible to detect anomalies gross fetal development, which indicate the presence of Edwards syndrome.Therefore, due to the constrained diagnosis of this defect, the issue of abortion in the state for this term almost never occurs and women bear and give birth to children with a syndrome of Edwards in due time

Edwards syndrome treatment

Today Remedy chromosomal abnormalities thereso due to the presence of numerous defects physical and mental development, most children (90%) died in the first year, and about 30% during the first month.Units survivors throughout his rather short life will suffer many physical illnesses and profound mental retardation.

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