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Doctor insights on: Birth Defects Williams Syndrome

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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

Dr. Fred McCurdy
63 doctors shared insights

Williams Syndrome (Definition)

Neurodevelopmental disorder characterized by loquacious personality, abnormally sensitive hearing, supravalvular aortic stenosis, mental retardation, elfin facies, association with hypercalcemia due to abnormal sensitivity to vitamin d, idiopathic hypercalcemia of pregnancy. Due to deletion in elastin gene and probably several ...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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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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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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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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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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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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What is downs syndrome, fetal alcohol syndrome, high functioning autism, asperger's syndrome and what are the causes?

What is downs syndrome, fetal alcohol syndrome, high functioning autism, asperger's syndrome and what are the causes?

See below: Down's syndrome. A genetic defect that seems to occur with mother's who are older. Fetal alcohol syndrome: this is caused by excessive intake of alcohol during the pregnancy, especially the early part of pregnancy when the nervous system is developing. As to aspergers, no one is quite sure at this time. ...Read more

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Is hemophilia linked to patau syndrome?

Is hemophilia linked to patau syndrome?

No, not linked.: Hemophilia a and hemophilia b are caused by mutations in genes f8 and f9, respectively, on the x chromosome. Patau syndrome results from trisomy 13 (the presence of an extra #13 chromosome). ...Read more

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Does the Asperger syndrome have xyy chromosome?

Does the Asperger syndrome have xyy chromosome?

Not by definition: Someone with xyy may has asperger's disorder but that is not part of the disorder itself. ...Read more

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What chromosomal mutation results in alagille syndrome?

What chromosomal mutation results in alagille syndrome?

ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals. ...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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Is treacher collins syndrome a mitochondrial disorder?

No: Treacher collins syndrome is an autosomal dominant mutation of a gene that codes for a nucleolar phosphoprotein.Researchers cite chromasome 5 as the predominant location for this defect.About 60% of cases are thought to represent new mutations. ...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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Is goldenhar syndrome heritable?

Is goldenhar syndrome heritable?

It is a genetic synd: It is a genetic syndrome. There's a bout a 3% chance the child will pass it on and less than a 1% chance it would occur in a sibling of this child of same parents. ...Read more

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Is Down's syndome a congenital disorder?

Down's Syndrome: Is a congenital disorder where an affected person has extra genetic material at Chromosome 21. It is the most common genetic condition in the United States. ...Read more

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What is the successful birth rate in women with marfan's syndrome?

What is the successful birth rate in women with marfan's syndrome?

Good: The ability to carry a pregnancy to term is very good but the major risk is to the mother who has had previous surgery for aortic root dilatation. Any pregnancy in a mother with Marfan Syndrome has to be treated with close attention to detail, especially with close monitoring of the aortic root diameter. The delivery should be by the least strtessful method. ...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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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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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