Alternative Names
cleft lip; cleft palate
Symptoms & Characteristics
An oral-facial cleft is a split in the lip, the roof of the mouth (palate), or both. Cleft lip and palate occur when the tissues that form the upper lip and palate do not fuse together correctly at about 5-7 weeks gestation.
Cleft lip and palate can occur together or independently and can be isolated or a feature of a larger underlying genetic condition. Cleft lip with/without palate is more common in males, while cleft palate alone is more common in females. Oral-facial clefts may be unilateral (on one side only) or bilateral (on both sides).
Oral-facial clefts may cause mild to severe cosmetic problems depending on the severity of the cleft. Oral-facial clefts can also lead to dental problems, ear infections, as well as problems with eating and talking. The problems may be more severe if an underlying genetic condition is present.
Treatment
The primary treatment is surgery to repair the cleft, which may occur in several stages depending on the severity of the cleft. The first surgery is typically performed before the first 12 to 18 months of life.
How Common Is It?
In the United States, about 1 in 700 to 1 in 1,000 births are affected with cleft lip and/or palate every year.
- Cleft lip and/or palate is more common in people of Asian, Hispanic, and Native American ancestry.
Genetics & Inheritance
About 70% of cases of oral-facial clefts occur as an isolated physical defect. An isolated oral-facial cleft is a multifactorial condition, which means it involves a combination of genetic and environment factors.
- Some studies have suggested that smoking and drinking during pregnancy increases the risk for oral-facial clefts.
- Other studies have suggested that taking certain medications, like some asthma and anti-seizure medications; hyperthermic events, such as saunas and hot tubs; as well as folic acid deficiency during pregnancy may also increase the risks for oral-facial clefts. As low folic acid levels are also associated with spina bifida, the Center for Disease Control and Prevention (CDC) and the March of Dimes recommend that all women who can become pregnant take a multivitamin containing 400 micrograms of folic acid before and during pregnancy.
The remaining 30% of cases of oral-facial clefts occur as a feature of an underlying genetic condition. In these genetic conditions, there are often additional characteristic mental and/or physical defects. Over 400 known genetic conditions can cause oral-facial clefts.
An evaluation by a medical geneticist may be helpful in distinguishing between isolated oral-facial clefts versus clefts caused by an underlying genetic condition. This distinction is important for not only the health and management of the affected person but also for an accurate estimation of recurrence risk within a family.
In the absence of a known genetic cause/condition, the estimated recurrence risk for isolated oral-facial clefts within a family depends on many factors. These factors may include the number of affected people in the family, the degree of relationship (close, distant) of the affected relatives, the sex of all affected people, and the severity of the oral-facial clefts (unilateral, bilateral, with/without palate).
Genetic Testing
In the absence of a known genetic cause/condition, genetic testing for cleft lip and/or palate is unavailable. During pregnancy, a comprehensive ultrasound (a detailed fetal ultrasound) may be helpful in visualizing oral-facial clefts.
It is always recommended to see genetic counseling with a trained genetic professional for a complete evaluation, accurate diagnosis, and discussion of the benefits and limitations of testing and recurrence risk. Use our find a genetic professional directory to locate a trained genetic professional in your area.
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