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What Sort Of Disorder Is Edwards Syndrome
Fatal disorder: Edwards or trisomy 18 is a birth defect with a third copy of chromosome 18. Most pregnancies with an extra chromosome miscarry. Of those that are born live 50% die in two weeks only 8% live to one year. Infants with this problem tend to have many problems including heart disease, kidney disease, rounded bottoms to their feet! webbing between toes and undescended testicles. ...Read moreSee 1 more doctor answer
You'll need support: When egg & sperm meet, their chromosomes split so 1/2 of dad's & 1/2 of mom's can join. The chromosome 18 in either egg or sperm divided unequally, & part or all of both chr.18's paired up with one chr. 18 from the other parent. A full or partial trisomy, (3 chr. 18's, ) occured by accident. Abnormal formation of the heart & other organs, intellectual disability & unusual facial features result. ...Read moreSee 1 more doctor answer
See below:: Trisomy 18 (edwards syndrome) is associated with abnormalities in many parts of the body. Individuals often have slow growth before birth (intrauterine growth retardation) & a low birth weight. Affected individuals may have heart defects and anomalies of other organs that develop before birth. Other features include a small, abnl shaped head; a small jaw/mouth; clenched fists;overlapping fingers. ...Read more
EDWARDS SYNDROME:: A chromosomal disorder: trisomy 18. 1/ 6000 births. Low birth wt, closed fists w/index finger overlaping 3rd and 5th overlaping the 4th; small head with prominent occiput; small mandible; short sternum; rocker bottom feet; narrow hips with limited abduction; heart and kidney malformations; mental retardation........ 95% lethal in the 1st. Year. ...Read more
Chromosome test: The usual test is called a karyotype. Blood cells (white cells) are obtained from the patient and the chromosomes are counted under a microscope. If there is an extra chromosome 18 then the patient has edwards syndrome or trisomy 18. This test can be done after the baby is born or it can be done in utero by amniocentesis (amniotic fluid taken from the uterus is tested). ...Read more
Early Chromosome DX: Dr edwards reported of the features of trisomy 18 in 1960 in the british journal the lancet. Drs patau & smith reported it in the same journal edition but the name edward syndrome has stuck. This was soon after the methods for preparing & counting chromosomes was available in research labs starting in the late 1950's. ...Read more
Sporadic event: The preparation of an egg for fertilization includes reducing all the chromosomes (22 regular pairs + a sex chm pair) from pairs to singles. The sperm then brings a single 1-22 regular +a sex chromosome. If the egg has a pair of 18 chms, then when the sperm adds the single 18 there is 3, this creates the chms imbalance in every skin cell of the fetus & results in the defects of edward syndrome. ...Read more
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