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Doctor insights on: Edwards Syndrome

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Dr. Lonnie Smith
38 doctors shared insights

Edwards Syndrome (Overview)

Edwards Syndrome happens with a frequency 1 in 6000 live births, and is the 2nd most common chromosomal syndrome, where there is an extra copy or part of an extra 18th chromosome. The classic physical findings include prominent occiput, clenched hands, and usually significant structural heart defects. The life span is short with usually severe mental retardation, and many medical issues...


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What sort of disorder is edwards syndrome?

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 more

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Dr. Lonnie Smith
38 doctors shared insights

Edwards Syndrome (Overview)

Edwards Syndrome happens with a frequency 1 in 6000 live births, and is the 2nd most common chromosomal syndrome, where there is an extra copy or part of an extra 18th chromosome. The classic physical findings include prominent occiput, clenched hands, and usually significant structural heart defects. The life span is short with usually severe mental retardation, and many medical issues...


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How does edwards syndrome affect a baby?

How does edwards syndrome affect a baby?

TRISOMY 18: Edwards syndrome or trisomy e is caused by extra chromosome 18 consisting of mental retardation, severe microcephaly and many developmental anomalies. ...Read more

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What are the symptoms of edwards syndrome?

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

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Will a test for downs syndrome also pick up if a child will have edwards syndrome?

Will a test for downs syndrome also pick up if a child will have edwards syndrome?

Depends on test: The chromasome study preformed during chorionic villous sampling will pick up the edwards-patau syndrome trisomy 18, Down syndrome t21, & the major chromasome defects to the level of the study. High resolution studies can pick additional problems. Some ob's use a blood test to decide if cvs would be needed in low risk population & screening tests are less accurate pro/con & may not pick up either. ...Read more

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What are the tests for edwards syndrome?

What are the tests for edwards syndrome?

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

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What are some things I should know about edwards syndrome?

What are some things I should know about edwards syndrome?

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 more

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What is edwards syndrome (trisomy 18)? What causes it?

What is edwards syndrome (trisomy 18)? What causes it?

Extra chromosome: In trisomy 18 the patient has an extra chromosome 18. This genetic disorder frequently causes heart and kidney defects. They may have a small head and jaw and usually have severe developmental delay. Here is a link http://www.Trisomy18. Org/site/pageserver? Pagename=whatist18_whatis. ...Read more

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How do you treat edwards syndrome (trisomy 18)?

Keep them comfortabl: These patients are supported with comfort measures as much as possible. Fluids, nutrition, oxygen, etc. As a universally fatal disorder, management focuses on comfort rather than things that would prolong the act of dying. ...Read more

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What are current treatments for edwards syndrome?

Much patience: Treatment for a child with edwards syndrome is very difficult. It calls for a lot of patience as these babies are severely debilitated. ...Read more

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Is there a cure for edwards syndrome trisomy?

No: Those with a standard trisomy have the abnormality in every cell of their body. The vast majority will die within the first year from one of many major congenital abnormalities with this defect. ...Read more

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Is Marfan syndrome dangerous? Any possible medication to get rid of the possible health problems?

Is Marfan syndrome dangerous? Any possible medication to get rid of the possible health problems?

Potentially yes..: Marfan syndrome is a disorder of the connective tissues which strengthen the body--medically, it affects the skeletal (weaker tissues, joints, flatfeet etc), cardiovascular (dilated aortic root, valve trouble etc.), eye (cataract/lense dislocation), and skin systems. Most dangerous is involvement in the heart as above. Unfortunately, no specific medication available. Consult doc. Good luck. ...Read more

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What is edwards syndrome?

What is edwards syndrome?

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 1950s. ...Read more

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How common is Edwards syndrome?

1 out of 5000: http://ghr.nlm.nih.gov/condition/trisomy-18

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Can edwards syndrome be inherited?

Edwards syndrome: Edwards syndrome is better known as trisomy 18. It is caused by imperfect division of the chromosomes with an extra chromosome ending up in the embryo. That process can happen to anyone. ...Read more

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