March of Dimes
 

Cleft Lip and Cleft Palate

A cleft is a gap in a body structure that results from incomplete closing of a specific structure during development. Clefts that occur in the lip and palate (roof of the mouth) are called oral-facial clefts. There are two main types of oral-facial clefts: cleft lip/palate and isolated cleft palate.

Some babies have only a cleft lip. However, many babies with cleft lip have a cleft palate as well. These are called cleft lip/palate. Cleft palate also can occur by itself without cleft lip. This is called isolated cleft palate. Cleft lip/palate and isolated cleft palate are considered separate birth defects. 

In this information sheet, we refer to each specific type of cleft by name and use the term oral-facial cleft when the information applies to both.

How do oral-facial clefts affect a baby's face?
A cleft lip can range in severity from a small notch in the upper lip to a complete opening in the lip extending into the bottom of the nose. The upper gum also may be involved. Cleft lip can occur on one or both sides.    

Cleft palate can involve only the soft tissue in the back of the mouth (soft palate) or extend forward through the front of the mouth (hard palate). One or both sides of the palate can be affected.

How common are oral-facial clefts?
About 6,800 babies in the United States are born with oral-facial clefts each year (1). This number refers to isolated oral-facial clefts, meaning clefts that are not accompanied by other birth defects. Isolated oral-facial clefts are among the most common birth defects in this country (1). About 70 percent of babies with oral-facial clefts have isolated clefts (2).

About 4,200 babies are born each year with cleft lip/palate (1). This birth defect occurs more often among people of Asian ancestry and certain groups of Native Americans than among Caucasians. It occurs least frequently among African Americans (2).

Isolated cleft palate occurs less often, appearing in about 2,600 babies each year (1). Unlike cleft lip/palate, the risk appears to be similar across all racial groups.
    
There also are about 400 syndromes in which babies have some form of oral-facial cleft along with a wide variety of other birth defects (2). The diverse problems of these babies are not described here. All babies with oral-facial clefts should be thoroughly examined by a doctor soon after birth to diagnose or rule out other birth defects.

When do oral-facial clefts develop?
These birth defects occur very early in fetal development. The tissue that will become the lip usually joins in the middle and fuses by about 5 to 6 weeks after conception. The palate forms in a similar manner at about 7 weeks. A cleft occurs when these structures don't close completely.  

What causes oral-facial clefts?
The causes of these birth defects are not well understood. Studies suggest that a number of genes, as well as environmental factors, such as drugs (including several different anti-seizure drugs) and maternal smoking, may contribute (3). Other environmental factors that are suspected of playing a role include infections, maternal alcohol use and deficiency of the B vitamin folic acid (3, 4).

Certain genes or gene mutations (changes) may cause cleft lip/palate, while others may cause isolated cleft palate. 

Are oral-facial clefts more common in some families?
If parents without either form of oral-facial clefts have a child with a cleft (and known causes, like syndromes, have been ruled out), the chance that another baby will have a cleft is usually about 3 to 5 percent (3). These risk figures are similar for cleft lip/palate and isolated cleft palate. If either parent has an oral-facial cleft, but no affected children, the risk of the same type of cleft in any pregnancy is about 5 percent (5). If more than one of the parents and/or children are affected, the risk for future offspring is greater. 

Couples who have had a baby with an oral-facial cleft, or who have a family history of clefts, can consult a genetic counselor to discuss the risks of these birth defects in their children.

Can oral-facial clefts be repaired?
Surgery can correct cleft lip/palate and isolated cleft palate. The timing and type of surgery depend upon a number of factors, including the preference of the individual surgeon, the general health of the baby and the nature of the cleft. Most surgeons agree that cleft lip should, in most cases, be repaired by about 3 months of age (6, 7). Cleft palate usually is repaired between 6 and 18 months of age (6, 7). Many babies will need additional surgical procedures as they grow.

What special problems do babies and children with oral clefts have?
Babies and children with oral clefts may have:

  • Feeding difficulties
  • Frequent ear infections and hearing loss (which often resolves with treatment)
  • Speech difficulties
  • Dental problems

Children with oral-facial clefts usually are treated by a team of specialists so that all aspects of treatment can be coordinated. Most teams include a pediatrician, a plastic surgeon, dental specialists, an otolaryngologist (ear, nose and throat specialist), a speech-language specialist, an audiologist (hearing specialist), a genetic counselor and a social worker.

What about feeding?
Babies with cleft lip alone usually do not have much trouble feeding. However, those with cleft lip/palate and those with isolated cleft palate often do. A cleft in the roof of the mouth makes it difficult for the baby to suck forcefully enough to draw milk through a nipple. Some babies also have problems with gagging, choking or milk coming out through the nose while feeding.

There are nipples and bottles especially designed to make feeding easier for babies with clefts (7). The baby's health care provider will probably recommend one before the baby leaves the hospital. The provider may rarely recommend using a small plastic plate called an obturator that fits into the roof of the mouth and blocks the opening during feeding. 

Breastmilk is the best food for most babies. It contains disease-fighting substances that help protect babies from infections. Babies with cleft lip alone usually can breastfeed successfully, but most babies with cleft palate can't (7). They can, however, receive the health benefits of breastfeeding if they are fed breastmilk from a bottle. A health care provider can show a new mother how to pump her breasts. It may be possible to breastfeed some babies with less severe cleft palate, although this requires extra patience and modification of techniques.

Most cleft-palate teams pay close attention to feeding. They help parents establish good feeding practices right after the baby is born in order to keep problems to a minimum.

What about ear problems?
Babies with cleft palate (whether part of cleft lip/palate or isolated) are more likely than other children to have frequent ear infections (7). The anatomical problems associated with the cleft can contribute to a buildup of fluid in the middle ear. If the fluid becomes infected, the baby can develop fever and an earache. Fluid buildup in the middle ear also can cause mild to moderate hearing loss.  

If treated properly in infancy and childhood, the hearing loss need not be permanent. If not properly managed, speech development may be affected by the hearing loss, and the hearing loss may become permanent.

All children with cleft palate should have their ears checked at least yearly (7). If fluid in the ear is detected, it often can be treated with medications or, in some cases, with a minor surgical procedure to drain the fluid. In persistent cases, the doctor may insert a tiny tube into the eardrum to drain fluids and help prevent infections. Most children with cleft palate require ear tubes.

How is speech affected by clefts?
Children with cleft lip generally have normal or near-normal speech. Some children with cleft palate (isolated or as part of cleft lip/palate) may develop speech a little more slowly than other children. Their words may sound nasal, and they may have difficulty producing some consonant sounds. However, after cleft-palate repair, most children eventually catch up and develop near normal speech, although some will require speech therapy or additional surgery later on.

What about dental problems?
Children whose cleft lip/palate extends into the upper gums (which contain the teeth) have special dental problems. Some primary and permanent teeth may be missing, abnormally shaped or out of position around the cleft. Some children with isolated cleft palate also are missing teeth.
 
Fortunately, dental experts generally can treat these problems successfully. The child usually will receive ongoing care by a team of experts, including a pediatric dentist (for routine care), an orthodontist (to reposition teeth using braces) and an oral surgeon (to reposition segments of the upper jaw, when needed, and to repair the cleft of the gum).

Can oral-facial clefts be prevented?
Little is known about how to prevent oral-facial clefts. However, some studies suggest that taking multivitamins containing folic acid before conception and during early pregnancy may help prevent oral-facial clefts (4).    

Women who are planning pregnancy or who are pregnant should avoid smoking and drinking alcohol. Some studies have shown that smoking increases the risk of oral-facial clefts, especially in fetuses with certain susceptibility genes (8, 9). Smoking during pregnancy also increases the risk of having a low birthweight or premature baby. Some studies also suggest that drinking alcohol during pregnancy may increase the risk of oral-facial clefts (10). Drinking alcohol during pregnancy also can cause other mental and physical birth defects. 

Some medications (such as some anti-seizure drugs) have been linked to increased risk of cleft lip/palate. Women who take these medications or any other medications for chronic health conditions should check with their health care providers before they become pregnant to see if their medication is safe during pregnancy. They should not, however, discontinue their medication without discussion with their health care provider. In some cases, the provider may recommend stopping the medication or switching to a medication that is safer during pregnancy. All pregnant women should use only medications prescribed by a health care provider who knows of the pregnancy. Women also should get early and regular prenatal care, beginning with a preconception visit.

Little is known about how to prevent oral-facial clefts. However, some studies suggest that taking multivitamins containing folic acid before conception and during early pregnancy may help prevent oral-facial clefts (4, 8). Folic acid is already known to help reduce the risk of certain defects of the brain and spinal cord. To help prevent these types of birth defects, the March of Dimes and the Centers for Disease Control and Prevention (CDC) recommend that all women who can become pregnant take a multivitamin that contains 400 micrograms of folic acid starting before pregnancy, as part of a healthy diet. A 2007 study by researchers at the National Institute of Environmental Health Sciences suggests that women who took multivitamins containing folic acid before and in the first two months of pregnancy had a lower risk of having a baby with cleft lip (with or without cleft palate) by about one-third (8).

Is the March of Dimes conducting research on oral-facial clefts?
March of Dimes grantees are investigating a number of different aspects of oral-facial clefts. In 2004, an international team including three March of Dimes grantees identified a gene variant that is a major contributor to oral-facial clefts and triples the risk of recurrence in affected families (2). March of Dimes grantees and other researchers continue to investigate genes that may play a role in causing oral-facial clefts to eventually develop ways to prevent them. Others are studying the possible role of folic acid in preventing oral-facial clefts.

For more information
American Cleft Palate-Craniofacial Association/Cleft Palate Foundation
1504 East Franklin St., Suite 102
Chapel Hill, NC  27514
(919) 933-9044

Velocardiofacial Syndrome,
U.S. National Institute on Deafness and Other Communication Disorders

References
1. Centers for Disease Control and Prevention (CDC). Improved National Prevalence Estimates for 18 Selected Major Birth Defects - United States, 1999-2001. Morbidity and Mortality Weekly Report, volume 54, January 6, 2006, pages 1301-1305.

2. Zucchero, T.M., et al. Interferon Regulatory Factor 6 (IRF6) Gene Variants and the Risk of Isolated Cleft Lip or Palate. New England Journal of Medicine, volume 351, number 8, August 19, 2004, pages 769-780.

3. Chakravarti, A. Finding Needles in Haystacks—IRF6 Gene Variants in Isolated Cleft Lip or Cleft Palate: Editorial. New England Journal of Medicine, volume 351, number 8, August 19, 2004, pages 822-824.

4. Botto, L.D., et al. Vitamin Supplements and the Risk for Congenital Anomalies Other Than Neural Tube Defects. American Journal of Med. Genet. C Semin. Med. Genet., volume 125, number 1, February 2004, pages 12-21.

5. On-Line Mendelian Inheritance in Man. Orofacial cleft 1 #119530, updated 2/2/06, and Cleft Palate, Isolated #119540, updated 4/26/04, http://www.ncbi.nlm.nih/gov/entrez/query.fcgi?cmd=retrieve&db=OMIM

6. American Society of Plastic Surgeons. Cleft lip and Palate. Arlington Heights, IL, accessed 4/24/06.

7. Cleft Plate Foundation. Cleft Palate Foundation publications. Chapel Hill, NC, accessed 4/24/06.

8. Wilcox, A.J., et al. Folic Acid Supplements and the Risk of Facial Clefts: A National Population-Based Case-Control Study. British Medical Journal, January 26, 2007.

9. Lammer, E.J., and Shaw, G.M. Maternal Smoking, Genetic Variation of Glutathione S Transferases, and Risk for Orofacial Clefts. Epidemiology, volume 16, number 5, September 2005, pages 698-701.

10. Lammer, E.J., et al. Maternal Smoking and the Risk of Orofacial Clefts: Susceptibility with NAT1 and NAT2 Polymorphisms. Epidemiology, volume 15, number 2, March 2004, pages 150-156.

11. Chevrier, C., et al. Interaction Between ADH1C Polymorphism and Maternal Alcohol Intake in the Risk of Nonsyndromic Oral Clefts: An Evaluation of the Contribution of Child and Maternal Genotypes. Birth Defects Res. A. Clic. Mol. Terat., volume 73, number 2, February 2005, pages 114-222.


February 2007

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