Cleft lip, cleft lip and palate, and isolated cleft palate, are collectively termed oral clefts (OCs). OCs are the most common congenital anomalies of the head and the neck with a total prevalence of 2.1 per 1000 live births. Both environmental and genetic factors have been implicated as causes. Prenatal maternal use of tobacco and alcohol may increase risk. Having one affected child increases risk of having a second affected child. Folate, taken just before becoming pregnant and through the 1st trimester, decreases the risk.
Oral clefts are divided into 2 groups:
Syndromic oral clefts are those present in patients with recognized congenital syndromes or with multiple congenital anomalies. These OCs are typically caused by chromosome abnormalities and defined monogenic syndromes.
Nonsyndromic (isolated) oral clefts are those present in patients without associated anomalies or developmental delays. A number of different gene mutations can cause the phenotype, including mutations of some of the genes that are involved with syndromic OCs, which suggests there is significant overlap between syndromic and nonsyndromic OCs.
The cleft may vary from involvement of only the soft palate to a complete fissure of the soft and hard palates, the alveolar process of the maxilla, and the lip. The mildest form is a bifid uvula. An isolated cleft lip can occur.
A cleft palate interferes with feeding and speech development and increases the risk of ear infections. Goals of treatment are to ensure normal feeding, speech, and maxillofacial growth and to avoid formation of fistulas.
Early treatment, pending surgical repair, depends on the specific abnormality but may include specially designed bottle nipples (to facilitate flow), dental appliances (to occlude the cleft so suckling can occur), a feeder that can be squeezed to deliver formula, taping, and an artificial palate molded to the child’s own palate. The frequent episodes of acute otitis media must be recognized and treated.
Ultimate treatment is surgical closure; however, timing of surgery, which may interfere with growth centers around the premaxilla, is somewhat controversial. For a cleft palate, a 2-stage procedure is often done. The cleft lip, nose, and soft palate are repaired during infancy (at age 3 to 6 months). Then, the residual hard palate cleft is repaired at age 15 to 18 months. Surgery can result in significant improvement, but if deformities are severe or treatment is inadequate, patients may be left with a nasal voice, compromised appearance, and a tendency to regurgitate.
Dental and orthodontic treatment, speech therapy, and genetic counseling are recommended.