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Doctor insights on: Usher Syndrome 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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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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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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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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If your are infected with chlamydia, can that cause birth defects in the child? Even if i get treatment to cure it. Could it cause down syndrome?

If your are infected with chlamydia, can that cause birth defects in the child? Even if i get treatment to cure it. Could it cause down syndrome?

Only if untreated.: Chlamydia infection is of no risk to the fetus if treated properly (that includes your sexual partner). It has nothing to do with down syndrome. If left untreated or undiagnosed or recurrent at the time of delivery then ophthalmia neonatorum with trachoma can develop with severe consequences for the infant's eyesight. That's why Erythromycin ointment is applied to all newborns' eyes prophylactical. ...Read more

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If you have 2 healthy children, does that lower your chances of having a child with Down syndrome or other birth defect?

If you have 2 healthy children, does that lower your chances of having a child with Down syndrome or other birth defect?

Rolling the dice: A woman can give birth to a ds infant at any age. The frequency varies with age @ 1/1500 from 15-29, 1/100 @40-45 and 1/50 over 45.There are some non specific screening tests available early in pregnancy to see if it is more likely, but examination of fetal cells for a chromosome count is the most accurate. ...Read more

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Helo dr. I had 2 abortions due to birth defects. Please help me how to avoid birth defects and down symdrome in next pregnancy.

Helo dr. I had 2 abortions due to birth defects. Please help me how to avoid birth defects and down symdrome in next pregnancy.

Birth Defects: It is not possible to avoid birth defects altogether. However, many of the birth defects can be diagnosed prenatally - i.e. Early parts of pregnancy. In vitro fertilization is another option where embryos can be screened for birth defects before implantation. These options may not be acceptable for some people with certain religious background. ...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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Is birth defect in part or a whole chromosome?

Is birth defect in part or a whole chromosome?

Depends: Some defects like down syndrome involve a whole extra chromosome, some involve a small portion, some malformations like amniotic bands are not even genetic (not inherited from parents). ...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 tiny babies more likely to have birth defect?

Are tiny babies more likely to have birth defect?

No: They may have immature effects, but structural birth defects are the same. ...Read more

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How can I help with birth defects cures after birth?

How can I help with birth defects cures after birth?

Depends on defect: Some structural birth defects like a cleft lip or heart defect can be improved by a reconstructive repair. Others, like the metabolic problem created by having no thyroid gland, can be managed with medications. Some defects, encoded by genetic abnormalities, have no fix but do have people looking for ways to help. If you want to help, pick a problem & get involved. ...Read more

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How do I cope with having a child with birth defects?

How do I cope with having a child with birth defects?

Become informed: The common responses to a birth defect runs the list of shock, disbelief, anger, depression and, over time a resolution & reorganization of your life & thinking. It is often helpful to learn as much about the defect/s, thoughts on origin, possibility of recurrrance, genetic contribution, etc. Meeting other parents who have been thru the same process may help, though i find most won't try for years. ...Read more

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What is the most common type of preventable birth defect?

What is the most common type of preventable birth defect?

See below: Neural tube defects (ntds): preventable with pre-pregnancy and ante-natal folic acid fetal alcohol syndrome (fas): avoid alcohol intake when trying to conceive and during pregnancy birth defects caused by medications and other substances some of the cardiac defects may be preventable by avoiding maternal obesity. ...Read more

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What is the risk of birth defects in children up for adoption overseas?

What is the risk of birth defects in children up for adoption overseas?

What is the risk?: I seriously doubt that this question can be correctly answered. Overseas, can be anywhere in the world beyond the east coast and the west coast. The risk of birth defects vary widely through out the world. Adding each country's incidence and averaging them out would not give you a reliable answer. Limiting the geographical area of your querry may give you a better response. ...Read more

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Why did circuses exploit people with birth defects? Did people really pay to see them?

Why did circuses exploit people with birth defects? Did people really pay to see them?

Curiosity: Circus sideshows embodied curiostiy and quirky spirit. Human nature finds colorful, different and exagerated promises interesting enough to pay and watch. As early as the 1930's people began to raise objections to the "human freaks" deeming them shameful pornography of the disabled. By 1970's laws were passed to kill these traveling sideshows. ...Read more

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Is a cleft chin a birth defect?

Is a cleft chin a birth defect?

No contest: It's a normal variation, inherited from father's or mother's line. ...Read more

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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
478 doctors shared insights

Birth Defects (Definition)

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