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One in every 500 births results in a cleft lip and/or palate. Many of these congenital deformities occur in families that have no history of clefts. While it is known how cleft deformities occur, it is seldom known why.
Cleft defects develop very early in pregnancy. They result from an abnormality in the genes (units of heredity) or chromosomes (packets of genes). These elements contain the program that determines how the child will be formed. Why and how abnormalities in the genes and chromosomes develop is largely unknown. An individualized genetic assessment may be helpful in identifying the cause of the malformation.
A person with a cleft who has no family history of this deformity has only a four percent chance of having a child with a cleft. If there is a family history of clefts, the chances are somewhat higher. In most children born with cleft lip and/or palate, this is the only congenital abnormality. However, approximately fifteen percent of all children with a cleft have multiple congenital abnormalities.
Three hundred craniofacial (head and face) syndromes involve cleft lip and/or palate as part of the syndrome. A syndrome is an accumulation of specific anatomic and physical findings that occur together. Most of these syndromes have been identified and named. Proper and complete assessment of the child with a cleft is necessary to determine the presence of other abnormalities, to establish realistic expectations for treatment and to plan the best course of treatment.
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