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Expecting a Child with the Marfan Syndrome Birth Defect
Unless you are currently expecting a child with the Marfan syndrome birth defect, the odds are good that you have never heard of this disorder. It is considered a birth defect since it is caused by a hereditary condition traced back to the fibrillin genes. In the context of heredity, this genetic condition rests on a dominant gene, which means that if only one parent has the applicable gene, the fetus has a 50% chance of actually developing the condition. The presentation of this condition itself varies between affected individuals. In general, Marfan syndrome is a birth defect that presents with connective tissue problems and therefore may affect a host of bodily systems or perhaps only one; similarly, the effects may be severe or only quite moderate. In addition to the foregoing, the presence of Marfan syndrome could be diagnosed as early as immediately following birth, or as late as in adult life.
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The tell tale signs of this birth defect are as follows:
1. The affected child’s or adult’s spine will show an unusual curving that appears to favor the lateral although a forward curvature has also been noted. Back pain is present quite frequently although it is not always concurrent with the malformation of the spine.Birth Defect: Cleft Lip/Palate - Common birth defects include cleft lip and cleft palate. More than 5,000 infants every year in the United States are born with either cleft lip or cleft...
It is imperative to understand that there are other symptoms that may be present, yet individuals suffering from Marfan syndrome rarely present with more than two or three of the symptoms and therefore it is easy to misdiagnose the birth defect unless the tell tale outward signs are present, or, in the alternative, a family history with documented cases of Marfan syndrome exists. To completely rule out the birth defect, or confirm it, a genetic test can be done that will provide a highly accurate result.
If you are expecting a child with the Marfan syndrome birth defect, you will want to discuss with your physician the various treatment options available to the infant. It is true that the condition cannot be cured or corrected away, but since it affects various bodily systems, the long term problems associated with the syndrome can be minimized or even kept at bay when doctors know ahead of time what to look out for. Generally speaking, your child will be frequently evaluated for eye and heart problems, illnesses affecting the eyes, and also diminished lung capacities; the skeletal system and especially the curvature of the spine will also need to be evaluated yearly or more frequently if any chances are becoming noticeable.
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All articles on this site are for information only and should not be treated as medical advice.
If you experience any symptoms, consult a medical professional.