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Doctor insights on: Rare Diseases Genetics Birth Defects

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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

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

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

Dr. Nikolaos Zacharias
467 doctors shared insights

Birth Defects (Definition)

Birth defects is a term for structural or functional abnormalities that a baby is be born with. These defects can be the result of genetic mutations or external insults to the developing fetus, such ...Read more


Dr. Nikolaos Zacharias
832 doctors shared insights

Congenital Abnormalities (Definition)

Congenital abnormalities, commonly known as "birth defects," are structural conditions that are present from birth. Common abnormalities include limb or facial malformations, but may ...Read more