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autosomal dominant
birth defects association
birth defects sequence
birth defects syndrome
chromosome abnormalities
craniosynostosis
dilantin
Down syndrome
environmental
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holoprosencephaly
trisomy


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clefts:associated birth defects

To delineate birth defects associated with clefting, we looked at 4433 infants with oral clefts drawn from 2.5 million California births.

bullet No other birth defects were seen in 73.5% of the children who had cleft lip with/without cleft palate and 47.5% of those with cleft palate alone.
bullet Chromosome abnormalities were seen in 7.9% of those with cleft lip/palate and 9.8% with cleft palate alone. The most common chromosome diagnoses were trisomy 13 (31%), trisomy 18 (18%) and Down syndrome (5%).
bullet 4% of children had a sequencea collection of birth defects all traceable to a single underlying abnormality. About 8% of those with cleft palate had the Robin sequence, where the tongue blocks palatal closure causing a U-shaped cleft. Midline clefts were common in the holoprosencephaly sequence.
bullet 6% of oral clefts were attributed to genetic disorders, in most cases, caused by autosomal dominant genes. Common conditions include Stickler syndrome, craniosynostosis syndromes and van der Woude syndrome (lip pits). 11% of cleft palate cases had identified genetic conditions, compared to only 2% of those with cleft lip with/without cleft palate.
bullet There were only 9 cases attributed to known environmental causesmostly fetal alcohol syndrome and fetal dilantin effects.
bullet About 19% had multiple birth defects of unknown originabout 15% of those with cleft lip/palate and 22% of those with cleft palate alone.

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clefts and birth defects graph

clefts and birth defects table


 


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