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This one is about: What is Holoprosencephaly?
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WHAT IS HOLOPROSENCEPHALY?
Dear Wide Smiles,
Before my daughter was born we already knew she had a cleft lip they could not see the palate, what they had told us is that she only had a uni-cleft, when she was born 5 1/2 weeks premature they found a syndrome called Holoprosencephaly (midline cleft), and at first they told us she only had 6 months to a year of life, after the results of an ultrasound of her brain came back it was normal they did a second ultrasound and it was normal too, what the doctor tells us is that at this point we don't know if our baby is going to be normal or that she could have severe retardation or mild or some other problems, but that we have to wait and that time will tell us as she develops in growth, is there any thing you can tell us about this condition?
Holoprosencephaly is in fact another name for Trisomy 13 - - a condition that is considered to be incompatible with life. However, Trisomy 13 includes the following conditions -- the most important of which, your daughter does not seem to have (given a midline cleft, rather than a bilateral, and given a normal brain through ultrasound scan) Did they find the trisomy through a chromosome test?
At any rate, Holoprosencephally includes the following characteristics: no cleavage in the front part of the brain (this is a neural tube defect); poor midline facial development (would affect the lip, nose, bridge of the nose, possibly the eyes); low-set ears; BILATERAL cleft lip; bilateral cleft palate; microcephaly (abnormally small skull); hypotolerism (wide-spaced eyes); deafness; mental retardation; seizures (convulsions); and VSD (ventricular septal defect -- or hole in the heart).
There is a form of Holoprosencephaly that is called Familial Holoprosencephaly, in which all of the traits are there, but the chromosomes are normal.
Hope this helps you some. Midline clefting is most often associated with some syndrome or another - - however, bilateral clefting is the cleft associated with Holoprosencephaly.
Wide Smiles Director
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