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Doctor insights on: Eds 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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Are congenital heart defects hereditary?

Are congenital heart defects hereditary?

Depends on variables: There are a few syndromes with high frequency of specific heart defects that can have inheritance risk up to 50%. Most, however, are part of a complex inheritance pattern with around 5% risk.This 5% would include any pattern of congenital heart defect, not necessarily the same one. ...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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Are congenital defects the same as birth defects?

Are congenital defects the same as birth defects?

Yes: Here is a primer on the terms congenital refers to being present at birth. Anomalies, abnormalities, defects are often used interchangeably. Not all are genetic or familial. Malformation and deformation mean different things. Malformation is an anomaly due to abnormal formation of a structure. Deformation is a change in a structure due to forces like pressure, eg, in cases of low amniotic fluid. ...Read more

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Child with birth defects?

Child with birth defects?

And your question is: If you have a specific question please ask it. As written this collection of words does not provide enough detail to be an answerable question. ...Read more

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Do amniotic sac disorders cause birth defects?

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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Are congenital abnormalities genetic?

Are  congenital abnormalities genetic?

Sometimes.: Although it's true that most congenital anomalies (duodenal atresia, ventricular septal defect) have some (currently known or unknown) genetic underpinning, some clearly do not (amniotic band deformation sequence, hydranencephaly, gastroschisis, porencephaly) and some are due to teratogenic exposures unrelated to genetic information (valproic acid, paroxetine, coumadin, (warfarin) enalapril, alcohol). ...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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Are heart valve abnormalities classified as birth defects?

Are heart valve abnormalities classified as birth defects?

Some: A bicuspid aortic valve or a prolapsing mitral valve are present from birth. Many other heart valve abnormalities are acquired, either through scarring from infection, calcium deposition, or mal-apposition due to dilatation of cardiac chambers, among other things. ...Read more

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Are congenital diseases the same as birth defects?

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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Are genetic diseases hereditary and present at birth?

Are genetic diseases hereditary and present at birth?

Yes: Genetic diseases by definition are carried in the dna of the patient. This can be evident early, like total albinism, or not be evident until very late in life like huntington disease. They may be inherited from their parents or emerge as a new mutation. New mutations, if not lethal, can be passed to future generations. ...Read more

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Incest cause birth defects and other reproductive harm?

Incest cause birth defects and other reproductive harm?

Possible: In addition to the trauma of the incestous abuse, there is a higher risk of birth and congenital abnormalities in pregnacies and births resulting from incest due to the resulting gene loading in families with hereditary problems. ...Read more

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Are heart murmurs classified as birth defects?

Are heart murmurs classified as birth defects?

No: Murmurs that are not caused by an abnormality are common. They are called "functional murmurs", and are of no concern whatsoever. ...Read more

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Are developmental, familial and congenital anomalies different?

Are developmental, familial and congenital anomalies different?

Not really: Developmental = failure to meet developmental milestones such as sitting up, walking etc. This may be aquired from e.g. Birth injury. Familial means that it is a trait within a family, presumably genetic. Congenital is "accidental" with no known cause. ...Read more

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How many chromosome defects cause retardation?

Hundreds at least: We only know about a few hundred, probably thousands possible as each human is unique as are their choomasome array. ...Read more

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Are vision defects hereditary?

Are vision defects hereditary?

Depends on type: Color vision defect is usually hereditary but can be affected by various meds including some anti-inflammatories, cancer agents, blood pressure meds, pr even aftergastric bypass. In addition recreational drugs can also be problematic. There are other eye diseases that can cause defects. ...Read more

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What are the chromosome defects affecting chromosome 10, 13 and trisomy 21?

What are the chromosome defects affecting chromosome 10, 13 and trisomy 21?

Many: There are numerous disorders that can happen with abnormalities of chromosomes 10 and 13. Too many to list here. Trisomy 21 means the person has an extra chromosome 21 and this is more commonly known as Down's syndrome. There are many possible phenotypic findings with this disorder, again too many to list here including physical characteristics, heart , hearing, vision, skeletal, developmental.... ...Read more

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Congenital heart diseases in parents -> what risk in fetuses?

Congenital heart diseases in parents -> what risk in fetuses?

One~4%both~6-8: Chd is polygenic= influenced by multiple genes and not directly passed on. The type of the parents chd is not necessarily one seen in the offspring. ...Read more

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Benzodiazepines cause birth defects according to research. Which specific birth defects do they cause?

Benzodiazepines cause birth defects according to research. Which specific birth defects do they cause?

Cleft lip/palate: A recent British medical Journal did an extensive meta-analysis of all the major studies in benzodiazepines and found a slightly increased risk, about 1.79 x greater risk of cleft lip and palate than the general population...no other major malformations reached clinical significance ...Read more

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Big baby, birth defects caused by diabetes? What defines macrosomia?

Big baby, birth defects caused by diabetes? What defines macrosomia?

Not just big.: Fetal macrosomia can be suspected by serial ultrasound in which the fetus exceeds the 90th percentile. This means that the baby is larger than 89% of the babies of same gestational age. Furthermore"macrocosmic" fetus are at a higher risk of shoulder dystocia (difficulty of delivering shoulders after the head is out) and hypoglycemia or dropping blood sugars shortly after delivery. ...Read more

Dr. Nikolaos Zacharias
841 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
480 doctors shared insights

Birth Defects (Definition)

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