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Doctor insights on: Marfan Syndrome 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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How is the genetic abnormality patau syndrome inherited?

How is the genetic abnormality patau syndrome inherited?

Non-disjunction.: The majority of cases of the lethal patau or trisomy 13 syndrome are caused by nondisjunction (47, +13) related to advanced maternal age. Robertsonian translocations of either parent can increase the risk for that couple, although most affected embryos die in utero. ...Read more

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Is marfan's syndrome a genetic mutation?

Is marfan's syndrome a genetic mutation?

Yes: Yes it is a mutation in the fbn1 gene on chromosome 15. This gene is responsible for providing the instructions for making a protien called fibrillin which becomes part of microfibrils. Microfibrils are important for providing the strength and flexibility of connective tissue. Connective tissue provides strength and flexibility to bones, ligaments, muscles, blood vessels and heart values. ...Read more

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Does aneuploidy cause Marfan syndrome?

Does aneuploidy cause Marfan syndrome?

Marfan is caused by : A mutation in the fibrillin gene on the long arm of chromosome 15 , 15q15-q21.3. Autisomal dominant inheritance with widely variable clinical findings. Aneuploidy is having an abnormal # of chromosomes from a genetic accident during cell reduction (meiosis). ...Read more

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Does Marfan syndrome skip generations?

Does Marfan syndrome skip generations?

No, but. . .: Marfan synd. Doesn't skip generations, but sometimes it's mild enough that the person who seemed to have skipped the disease actually had a mild case of it. Also, it is possible that a child of a marfan synd. Parent doesn't inherit the mutation (child is normal), but that child's child or grandchild gets a new mutation or marries a mild, undiagnosed marfan patient... Leading to future marfan kids. ...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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What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that causes these conditions?

What causes turner syndrome, noonan syndrome, & the rare klippel-fell syndrome? What happens during fetal development that causes these conditions?

A genetic accident: During formation of the egg or sperm can leave out an x chromosome in either one. A fetus whose genetic make-up includes the germ cell missing a chr. X has turner syndrome. One of 8 different genetic mutations is passed on to a fetus by 1 parent or happens spontaneously to cause noonan syndrome. 2 related genetic mutations are passed on to the fetus by 1 parent to cause klippel-feil syndrome. ...Read more

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Is treacher collins syndrome a genetic disease?

Is treacher collins syndrome a genetic disease?

Yes: In some patients it is a new mutation, while in others it is passed down from a parent. ...Read more

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Is turners syndrome a genetic disorder?

Is turners syndrome a genetic disorder?

Yes: Most females are born with 2 x chromosomes. Ts is a disorder resulting from missing one x chromosome or some part of it in the cells of the body. It is a disorder exclusive to females. Those with ts are born with it. Manifestations vary depending on the genetics. Small stature is one feature most girls have in common with each other. ...Read more

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Is XXY klinefelter's syndrome related at all to marfan's syndrome?

No: The two syndromes have some similar features, but they are different syndromes that are unrelated. Klinefelter syndrome is caused by ahaving at least one extra x chromosome in a person who has a y chromosome (normal male=46 xy, klinefelter=47xxy). Typical marfan syndrome is caused by a mutation in fbn1, coding for fibrillin-1. ...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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Are cerebral palsy, osteogenesis imperfecta or downs syndrome passed on to your children?

Are cerebral palsy, osteogenesis imperfecta or downs syndrome passed on to your children?

No,no,maybe: CP is an injury to the developing nervous system,it is not inherited. There are several forms of Osteogenisis imperfecta and their inherance varies.some do not survive infancy, some require an OI gene from both parents.Down syndrome males are usually sterile, females can reproduce and just under 50% of their babies would be DS. ...Read more

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Can FAS (fetal alcohol syndrome) be inherited?

Can FAS (fetal alcohol syndrome) be inherited?

Yes and no.: The predisposition for alcoholism is inherited, however fetal alcohol syndrome only occurs when the fetus is exposed to maternally ingested alcohol during pregnancy and as such is not inherited, rather is a teratogen exposure that is entirely preventable. ...Read more

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Is ?Hypoplastic left heart syndrome genetic?

Is ?Hypoplastic left heart syndrome genetic?

Yes - multifactorial: 2-6% recurrence risk with 1-2 prior affected siblings and up to 25% recurrence risk in familial autosomal recessive rare cases. ...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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Is kabuki syndrome genetic?

Is kabuki syndrome genetic?

Kabuki syndrome: is a genetically inherited disorder. Here is a link for more information, resources and support: http://ghr.nlm.nih.gov/condition/kabuki-syndrome ...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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What chromosome is affected by Marfan syndrome?

Chromosome 15: Marfan syndrome is caused by a mutation in the fbn1 gene on chromosome 15. The "address" for this gene is 15q21.1. This gene codes for a protein called fibrillin-1. Inheritance is autosomal dominant. ...Read more

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Could diet influence birth defects?

Could diet influence birth defects?

Yes: Insufficient folate (folic acid) in the mother's diet has been linked to neural tube birth defects. ...Read more

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Does Marfan syndrome only affect males?/does Marfan syndrome only affect females?

Affects men & women: Marfan syndrome is autosomal dominant, not sex-linked. About one in 3000-5000 people have marfan syndrome. It affects an equal number of males and females. ...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. Scott McLean
336 doctors shared insights

Marfan Syndrome (Definition)

An inherited disorder that affects connective tissue where one's body shape is long, with thin arms, hands, and fingers, and when the total arm length is greater ...Read more