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Doctor insights on: Rare Diseases Genetics Birth Defects

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Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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Is clinodactyly a genetic disorder, birth defect?

Is clinodactyly a genetic disorder, birth defect?

Yes, but .....: Clinodactyly is a curve of one or more fingers, which is pretty common, especially for the pinkies, and no big deal at all. Technically it's a minor birth defect and usually not a sign of any problem. But sometimes it's one component of a rare genetic syndrome, like wahab syndrome (http://omim.Org/entry/615170) or a more common one, like down syndrome. I have a little clinodactyly myself! ...Read more

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Sickle cell anemia:is this birth defect only due to genetics?

Yes: It is a defect present from birth, yes. Would i call it a birth defect, no. It is a genetically derived abnormality in the metabolism of hemoglobin that results in sickling of the red cells under some circumstances. As a metabolic disease, it is inherited in a similar fashion to pku or cystic fibrosis. The term birth defect is more appropriate for a kid with malformation of an organ or body part. ...Read more

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What genetic birth defects are associated when two first cousins have a baby?

What genetic birth defects are associated when two first cousins have a baby?

Autosomal recessive: There is increased risk of autosomal recessive type genetic disorders when close family members have a baby together. There are many of them but some examples include cystic fibrosis, sickle cell anemia, and Tay-Sachs disease. ...Read more

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Can genetic testing prevent birth defects in pregnancy?

Can genetic testing prevent birth defects in pregnancy?

Nope.: Genetic prenatal testing can detect many chromosomal or microscopic dna defects - but it cannot prevent birth defects! 2-4% of all newborns will have a minor or major birth defect and the vast majority of those have unknown genetic underpinnings at this time, although many of us are working to change that. Take Folic Acid 1-5 mg daily to prevent 75-95% of major neural/cardiac fetal anomalies! ...Read more

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Do amniotic sac disorders cause birth defects?

Amniotic Fluid: Best discussed with your ob. Too much or too little amniotic fluid is associated with abnormalities in development and pregnancy complications. Differences in the amount of fluid may be the cause or the result of the problem. ...Read more

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Is hirschsprung's disease a common birth defect?

Is hirschsprung's disease a common  birth defect?

Not so rare: It occurs in about 1 out of every 5,000 newborns and is most common in male babies. Some instances are familial. Down syndrome has fifteen fold increase in incidence of Hirschsprung's disease. ...Read more

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Are congenital diseases the same as birth defects?

Terminology issue: Defects in the formation of the heart are sometimes labeled as "congenital heart disease" to distinguish them from the diseases of the adult heart. The term is rarely used for cleft lip or open spine defects that are more readily termed birth defects. One could be born with an infection at birth, but it is more a transient visitor than a birth defect,Medical terms must be judged by their context. ...Read more

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Is it possible that von willebrand disease course birth defects in unborn baby's?

No: If i understand your question correctly, von willebrand disease will not cause birth defects in an unborn child. ...Read more

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What are some rare birth defects from older fathers?

What are some rare birth defects from older fathers?

See below: Marfan syndrome, apert syndrome, and achodroplasia are associated with advanced paternal age. ...Read more

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I would like info on rare hip birth defect, arthrokadadysis?

I would like info on rare hip birth defect, arthrokadadysis?

Do not know much: The primary variety was recognized first by otto in 1824 and sometimes is referred to as otto pelvis or arthrokatadysis. Otto pelvis is unusual form of osteoarthritis with primary protrusio and degenerative change established at an early age more frequently in women. Hopefully your orthopedic doctor will know more.. Consider acupuncture and chinese medicine to help you self repair. ...Read more

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Can pelvic inflammatory disease cause birth defects?

Can pelvic inflammatory disease cause birth defects?

No.: Pid can prevent you from getting pregnant, but should not affect the fetus' risk of anatomical defects once pregnancy is achieved. Pid during pregnancy (in the first trimester) is very rare but could be an exception to the above rule, in that it can lead to miscarriage and birth defects. Take Folic Acid 1-5 mg daily to prevent birth defects throughout your reproductive life! ...Read more

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Can i drink reed's extra ginger brew (26mg fresh ginger) in 1st trimester? I have been for m/s, but read too much ginger can cause birth defects & m/c

Can i drink reed's extra ginger brew (26mg fresh ginger) in 1st trimester? I have been for m/s, but read too much ginger can cause birth defects & m/c

Safe in moderation: It is wise to be cautious re: the use of all herbs in the 1st trimester ; yes, too much ginger may be harmful. Research shows up to 1000 mg a day in divided doses is safe ; effective so the 26 mg in reed's ginger brew is quite safe. However, it has lots of sugar so consider making fresh ginger tea with honey to sweeten it. See http://www.Drweil.Com/drw/u/qaa400749/avoid-ginger-while-pregnant.Html. ...Read more

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Can certain foods and drink cause birth defect?

Can certain foods and drink cause birth defect?

YES, ...Some causes:: Alcohol; excessive caffeine; mercury: shark, swordfish, king mackerel, tilefish have highest amounts of mercury, can cause brain damage). Bluefish, striped bass, salmon, pike, trout, and walleye: high contamination of polychlorinated biphenyls. Some fish used for sushi; herbicides used in vegetables (e.g. Glyphosate used in genetically modified soy bean), low Folic Acid containing food. ...Read more

Dr. Nikolaos Zacharias
834 doctors shared insights

Congenital Abnormalities (Definition)

Abnormalites that are present at birth. Also known as birth defects. For example- cleft palate is a congenital abnormalities. Another example congenital heart disease is the presence of a ...Read more


Dr. Nikolaos Zacharias
471 doctors shared insights

Birth Defects (Definition)

A physical or biochemical abnormality that is present at birth- it may be inherited or ...Read more