Overview, Causes, & Risk Factors
Cleft lip is a birth defect that involves a split in the upper lip. Cleft palate involves a split down the palate. The palate is the center of the roof of the mouth. When these defects occur separately, they are known as isolated cleft lip or isolated cleft palate. They may also occur together. This is called cleft lip with cleft palate.
What is going on in the body?
Cleft lip and cleft palate both develop while a baby is in the womb. Cleft lip occurs when grooves that are normally present in the face of a developing fetus don't smooth out as it grows. The baby is then born with a split or opening where the grooves were, called a cleft lip.
The roof of the mouth, on the other hand, develops from tissue on each side of the mouth. This tissue usually grows together and fuses at the middle of the roof of the mouth. If the tissue does not fuse normally, the baby is born with a split extending from front to back along the roof of the mouth. This is called a cleft palate.
What are the causes and risks of the condition?
Cleft lip and palate are caused by environmental factors and genetics. For instance, people who have a cleft lip alone or cleft lip with cleft palate are more likely to have children with cleft lip. The actual risk depends on the severity of the split and family history. While people with cleft palate may also have affected children, the risk is not as high as it is for cleft lip.
Despite the genetic risk, most cases of cleft lip and palate occur randomly. Taken together, cleft lip or palate occurs in about 1 in 700 live births, with cleft lip being more common. Cleft lip is more common in boys than in girls.
Certain factors during a woman's pregnancy are associated with an increased risk of cleft lip and palate in the fetus. While more research is needed to establish a cause and effect relationship for many of these factors, the list currently includes the following:
certain over-the-counter medications, such as dextromethorphan, a common cough suppressant
certain prescription medications, such as those used to control seizures, as well as isotretinoin, a medication used to treat acne
chorionic villi sampling, which is a diagnostic test that takes cell samples from the pregnant woman's uterus, when it is done before the 8th week of pregnancy
excess intake of vitamin A
inadequate intake of folic acid
The March of Dimes recently issued an advisory that pregnant women should avoid all herbal remedies, over-the-counter medications, and prescription medications unless recommended by the healthcare provider.
Symptoms & Signs
What are the signs and symptoms of the condition?
Symptoms of cleft lip and cleft palate vary from person to person, depending on the extent of the defect. Cleft lip may show up only as a small notch in the border of the upper lip. It may also involve a complete split of the lip that extends into the floor of the nose. Cleft lip may involve one or both sides of the upper lip. Often, the bone that supports the upper teeth is involved to some degree. Extra, missing, or deformed teeth may also be part of cleft lip. Frequently, the outside of the nostril is somewhat flattened, too.
Cleft palate may involve only the uvula, or it may involve the entire roof of the mouth. The uvula is the soft, fleshy mass that hangs down from the roof of the back of the mouth.
Cleft lip and palate may be associated with other birth defects. Cleft lip and palate are birth defects that are usually visible at birth. Some mild types of cleft palate may not be seen but can be detected by nasal speech or other types of speech problems.
Babies with cleft lip do not usually have feeding problems or speech impairments. Infants with cleft palate, with or without cleft lip, often have difficulty feeding and impaired speech. The baby may feed too slowly, take in too much air while eating, or bring milk up through the nose.
Diagnosis & Tests
How is the condition diagnosed?
Cleft lip and palate are visible at birth. They may also be detected during a pregnancy ultrasound, which is a special X-ray used to see the fetus in the mother's womb.
Prevention & Expectations
What can be done to prevent the condition?
Since cleft lip and palate occur early in pregnancy, there is little that can be done to prevent it. Pregnant women may reduce the risk to the fetus of developing cleft lip and palate by avoiding certain environmental factors, such as medications used to treat seizures.
Genetic counseling may be useful for families in which there is a history of cleft lip and palate.
What are the long-term effects of the condition?
Infants with cleft palate are at increased risk for chronic otitis media, or ear infections. This risk may persist even after the roof of the mouth has been repaired. Hearing impairments may occur as a result of repeated ear infections.
Speech defects also are common with cleft palate. These may last even after the roof of the mouth has been repaired. Teeth may come in crooked or be poorly positioned.
After surgery to repair the cleft, cosmetic problems may persist. This could cause psychological problems, including depression and low self-esteem. Speech impairments in children are also associated with a higher risk of acute situational anxiety generalized anxiety disorder panic disorder post-traumatic stress disorder phobias obsessive compulsive disorders
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What are the risks to others?
Cleft lip and palate are not contagious. Children of affected people are at greater risk than others to inherit the genetic factors that cause cleft lip and palate. The actual degree of the risk depends on the family history.
Treatment & Monitoring
What are the treatments for the condition?
Feeding is the first priority after a baby is born with a cleft palate. Because of the split in the roof of the mouth of babies with cleft palate, it is hard for the baby to make enough suction to pull milk out of the breast. Therefore, breastfeeding is difficult. Special nipples and infant nursing bottles are useful in feeding babies with cleft lip and palate. These special nipples and bottles deliver formula or pumped breast milk to the back of the baby's mouth so it can be swallowed. Dental devices can also be used to temporarily seal the opening in the palate enough to allow sucking.
Surgical repair of cleft lip and palate are advised. Surgery is usually done in several stages and by several specialists. The first operation for cleft lip is usually done at about two months of age. By this time, most infants have gained enough weight to tolerate the surgery and have built up immunity against infection. The palate is usually repaired before the baby is one year old. This helps with normal speech development. The cosmetic outcome of the surgery depends on the extent of the defects and the skill of the surgeon.
What are the side effects of the treatments?
Regardless of how good the surgery to repair cleft lip and palate is, there may be scarring. Scars from the surgery may cause speech problems or emotional embarrassment. Surgery may cause bleeding, infections, and allergic reaction to anesthesia. If antibiotics are needed for infection, side effects, including stomach upset and allergic reaction, may occur.
What happens after treatment for the condition?
After surgery, especially in an infant, it is important that the area of the surgical repair not get infected. The baby's arms may have to be restrained with splints that do not allow the elbows to bend. This keeps the baby's hands away from his or her face. Special feedings and fluid diets may be needed for several weeks after the operation.
How is the condition monitored?
A person with cleft lip and palate should be monitored by a team of specialists. It is important for these experts to monitor the following:
alignment and condition of teeth
effects of surgery
growth and development
need for further surgery
The person or family also may need help accessing community resources. People with cleft lip and palate may want genetic counseling before having children.