Cleft lip and cleft palate facts
- Cleft lip and palate are developmental defects of the upper lip and roof of the mouth that are present at birth (congenital malformations).
- Cleft lip and palate may occur separately and in combination.
- Both malformations occur as a consequence of incomplete fusion of the developing lip (normally occurs by 35 days of gestation) or of incomplete fusion of the hard or soft palate (normally occurs by the eighth to ninth week of gestation).
What is a cleft lip? What is a cleft palate?
A cleft lip is an opening extending through the upper lip. It may be in the midline (center) or left and/or right side of the lip. A cleft palate is an opening of the hard palate (the bony front portion of the roof of the mouth) or the soft palate (the muscular non-bony region in the rear of the roof of the mouth. Similar to a cleft lip, a cleft palate may be midline and/or to either right of left side of the palate. A cleft palate may extend from the upper jawbone to the rear of the throat.
Since development of the lip and palate occur at different times during gestation, an infant may have either a cleft lip or cleft palate or clefting of both regions.
How often do cleft lip and cleft palate occur?
Cleft lip, either as a sole malformation or coupled with cleft palate occur in approximately one in 700 live births. Boys are twice as likely to have a cleft lip with or without an associated cleft palate. On the other hand, girls are more likely to have a cleft palate alone (those not associated with a cleft lip malformation). Ethnic background has been shown to affect the frequency of clefts. Children of Asian, Latino, or Native American ancestry are more frequently affected when compared to those of Caucasian background.
What are the causes and risk factors for developing a cleft lip and cleft palate?
While gender and ethnic background are risk factors, as described above, there are other factors that seem to play a role in causing clefting. Specialists have noted that the more severe the defect in a child the higher the risk for a cleft malformation in subsequent siblings. The recurrence risk for a cleft deformity is 2.7% if an older sibling has a single cleft lip. If an older sibling has bilateral (both sides of the upper lip) involvement, the recurrence risk is doubled (5.4%). If a parent has had either cleft lip or palate, there exists a 4% likelihood of cleft malformation in their children. However, if an affected parent has a child with cleft lip or palate, the chance of future children experiencing a cleft malformation rises to 14%.
How do physicians diagnose a cleft lip and cleft palate?
The diagnosis of cleft lip at birth is obvious. All newborn infants are screened at birth for cleft palate. Direct illuminated examination of the infant's hard and soft palate is part of the complete exam of any newborn. In addition, the palate (both hard and soft regions) are palpated with the examiner's finger to ensure that a "partial cleft" is not missed. Partial clefting occurs when a bony or muscular defect of the palate are obscured by intact skin covering the tissue separation (similar to covering a hole in beach sand with a towel).
Prior to birth, prenatyal ultrasound examination may demonstrate malformation of the upper lip, nasal opening, or palate. Since as many as 35% of conceptions with cleft lip and palate may be associated with other non-oral cavity deformities, specialized ultrasounds may be indicated. Similarly, the obstetrician may recommend blood tests and an aminicentesis A referral to a perinatologist (an obstetrician with specialized training in high-risk pregnancies) or a geneticist may be suggested.
Other birth defects that are associated with cleft lip and palate may include the following:
- Common cardiac defects: 3%-4%
- Pyloric stenosis (narrowing of stomach as it connects to the small intestine): 3%
- Club foot: 2%-8%
- Scoliosis: 10%-15
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