An oral-facial cleft is a congenital anomaly in which the lip, the roof of the mouth, or both do not close in the midline and remain open, creating a cleft lip and/or cleft palate. These anomalies are present at birth and interfere with feeding and, later, speech development.
Cleft lip, cleft lip and palate, and isolated cleft palate are collectively termed oral clefts and are the most common congenital anomalies of the head and the neck, with a total prevalence of 1 per 1000 live births (1).
Both environmental and genetic factors have been implicated as causes. Prenatal maternal use of tobacco (2) and alcohol (3) or the mother having an oral-facial cleft or having a first-degree relative with an oral-facial cleft (4) is associated with increased risk. Folate deficiency is also a risk factor, particularly from time of conception through the first trimester. Folate supplements are recommended for all patients while trying to become pregnant and during pregnancy. In addition, higher doses of folate are required for patients taking folate antagonists, including certain antiseizure medications (eg, phenytoin, valproate, carbamazepine).
DR M.A. ANSARY/SCIENCE PHOTO LIBRARY
(See also Overview of Congenital Craniofacial Anomalies.)
MORRIS HUBERLAND/SCIENCE PHOTO LIBRARY
Oral clefts are divided into 2 groups:
Syndromic (30%)
Nonsyndromic (70%)
Syndromic oral clefts are those present in patients with recognized congenital syndromes or with multiple congenital anomalies. These oral clefts are typically caused by chromosome abnormalities or defined monogenic syndromes.
Nonsyndromic (isolated) oral clefts are those present in patients without associated anomalies or developmental delays. A number of different gene variants can cause the phenotype, including pathogenic variants of some of the genes that are involved with syndromic oral clefts, which suggests there is significant overlap between syndromic and nonsyndromic clefts.
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.
References
1. Mai CT, Isenburg JL, Canfield MA, et al. National population-based estimates for major birth defects, 2010-2014. Birth Defects Res. 2019;111(18):1420-1435. doi:10.1002/bdr2.1589
2. Butali A, Little J, Chevrier C, et al. Folic acid supplementation use and the MTHFR C677T polymorphism in orofacial clefts etiology: An individual participant data pooled-analysis. Birth Defects Res A Clin Mol Teratol. 2013;97(8):509-514. doi:10.1002/bdra.23133
3. DeRoo LA, Wilcox AJ, Drevon CA, Lie RT. First-trimester maternal alcohol consumption and the risk of infant oral clefts in Norway: a population-based case-control study. Am J Epidemiol. 2008;168(6):638-646. doi:10.1093/aje/kwn186
4. Sivertsen A, Wilcox AJ, Skjaerven R, et al. Familial risk of oral clefts by morphological type and severity: population based cohort study of first degree relatives. BMJ. 2008;336(7641):432-434. doi:10.1136/bmj.39458.563611.AE
Diagnosis of Cleft Lip and Cleft Palate
Physical examination
Genetic testing
A clinical geneticist should evaluate affected patients even in cases of apparent isolated congenital anomaly.
Chromosomal microarray analysis, specific gene tests, or broader gene panel tests should be considered in the evaluation of patients with congenital craniofacial anomalies. If the results of these tests are nondiagnostic, whole exome sequencing analysis may be recommended.
Treatment of Cleft Lip and Cleft Palate
Surgical repair
Early treatment, pending surgical repair, depends on the specific anomaly 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. Episodes of acute otitis media are common and must be recognized and treated.
Definitive 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.
