Cleft lip and cleft palate

Definition

Cleft lip and cleft palate are among the most common birth defects. A cleft is an opening or split in the upper lip, the roof of the mouth (palate) or both. Cleft lip and cleft palate result when developing facial structures in an unborn baby don't close completely.

Cleft lip and cleft palate commonly occur as isolated birth defects, but are also associated with many genetic conditions.

You might feel upset when you first see your baby's cleft, but cleft lip and cleft palate can be corrected. In most babies, a series of surgeries can restore normal function and achieve a more normal appearance with minimal scarring.

Cleft palate

Cleft palate

In a cleft palate, the roof of the mouth doesn't fuse together. As a result, the lip and the bridge to the nose are also left open. ...

Symptoms

Usually, a cleft — or split — in the lip or palate is immediately identifiable at birth. Cleft lip and palate can affect one or both sides of the face. Clefts can appear as only a small notch in the lip or can extend from the lip through the upper gum and palate into the bottom of the nose.

Less commonly, a cleft occurs only in the muscles of the soft palate (submucous cleft palate), which are at the back of the mouth and covered by the mouth's lining. Because it's hidden, this type of cleft may not be diagnosed until later.

When to see a doctor
A cleft lip and cleft palate are usually apparent at birth, and your doctor may start coordinating care at that time. However, a submucous cleft palate may be obscured by the lining of the mouth and not diagnosed until later when signs develop. Some babies with this type of cleft have trouble with feeding, including nasal regurgitation and excessive gassiness. If your child has these or other signs or symptoms that concern you, see your child's doctor.

Cleft lip

Cleft lip

The photograph of this baby was taken at age 3 months, before surgery to repair her cleft lip. ...

Cleft palate

Cleft palate

In a cleft palate, the roof of the mouth doesn't fuse together. As a result, the lip and the bridge to the nose are also left open. ...

Causes

A baby's face and skull form during the first two months in the womb. Normally, the tissues that make up the lip and palate fuse together. But in babies with cleft lip or cleft palate, the fusion never takes place or occurs only partially, leaving an opening (cleft).

Researchers believe that most cases of cleft lip and cleft palate are caused by an interaction of genetic and environmental factors. In many babies, a definite cause isn't discovered.

• Genetic factors. Either the mother or the father can pass on genes that cause clefting, either as an isolated defect or as part of a syndrome that includes clefting as one of its signs. In some cases, babies inherit a gene that makes them more likely to develop a cleft, and then an environmental trigger actually causes the cleft to occur.
• Environmental factors. Fetal exposure to cigarette smoke, alcohol, certain medications, illicit drugs and certain viruses have been linked to the development of a cleft.

Risk factors

Several factors may increase the likelihood of a baby developing a cleft lip and cleft palate.

• Family history. Parents with a family history of cleft lip or cleft palate face a higher risk of having a baby with a cleft.
• Race. Cleft lip and palate are most common in American Indian and Asian children. Black children are least likely to have a cleft.
• Sex. Males are twice as likely to have a cleft lip with or without cleft palate. Cleft palate without cleft lip is more common in females.
• Environmental factors. Exposure in early pregnancy to cigarette smoke, alcohol or illicit drugs may put a baby at higher risk of developing a cleft.
• Maternal obesity. Obesity in the mother is associated with a slightly increased risk of cleft lip and palate.

Complications

Children with cleft lip with or without cleft palate face a variety of challenges, depending on the type and severity of the cleft.

• Feeding difficulties. One of the most immediate concerns after birth is feeding. While most babies with cleft lip can breast-feed, a cleft palate can make sucking difficult or cause gagging or nasal regurgitation. Your health care team will discuss feeding strategies with you, such as using a special bottle nipple or a small artificial palate (obturator) that fits into the roof of the mouth.
• Ear infections and hearing loss. Babies with cleft palate are especially susceptible to middle ear infections. Over time, repeated ear infections can damage hearing, but hearing loss may resolve with treatment. It's important for children with cleft palate to be evaluated regularly by an audiologist or an ear, nose and throat doctor. Most children with clefts have tubes inserted in their ears to drain fluids and help prevent infections.
• Dental problems. If the cleft extends through the upper gum, tooth development will likely be affected. A pediatric dentist should monitor tooth development and oral health from an early age.
• Speech difficulties. Because both the lip and palate are used in forming sounds, the development of normal speech can be affected. A speech pathologist can evaluate your child and provide speech therapy.
• Psychological challenges. Children with clefts may face social, emotional and behavioral problems due to differences in appearance and the stress of intensive medical care. A psychologist and a social worker can help you and your child deal with the stresses your family encounters.

Tests and diagnosis

Most cases of cleft lip and cleft palate are discovered at birth, but they're increasingly being diagnosed by ultrasound before the baby is born. If fetal ultrasound shows a cleft, your doctor may offer amniocentesis — removal of a sample of amniotic fluid from your uterus — to check for chromosomal abnormalities, since cleft lip and palate can be part of a genetic syndrome.

After birth, genetic testing may help determine the best treatment for your child, especially if the cleft is associated with a genetic condition. Genetic testing also informs parents of their risk of having additional children with cleft lip or cleft palate.

Treatments and drugs

Treatment of cleft lip and cleft palate requires a comprehensive plan from birth to adulthood, as reconstruction often involves a series of operations as the child grows. A health care team that specializes in cleft lip and cleft palate is ideal because the condition often affects other areas of a child's health. Specialists on the team may include a:

• Pediatrician
• Plastic surgeon
• Oral surgeon
• Pediatric dentist
• Orthodontist
• Ear, nose and throat doctor (otolaryngologist)
• Auditory or hearing specialist
• Speech therapist
• Genetic counselor
• Social worker
• Psychologist
• Nurse

The goals of treatment are to ensure the child's ability to eat, speak, hear and breathe and to achieve a normal facial appearance. Treatment involves surgery to repair the defect and therapies to improve any related conditions.

Surgery
Surgery to correct cleft lip and palate is based on your child's particular defect. Following the initial cleft repair, your doctor may recommend follow-up surgeries to improve speech or improve the appearance of the lip and nose. Surgeries typically are performed in this order:

• Cleft lip repair — between 10 weeks and 3 months of age
• Cleft palate repair — between 6 and 18 months of age
• Follow-up surgeries — between age 2 and late teen years

For children with cleft palate, ear tubes also may be placed during the first surgery to ventilate the middle ear and prevent hearing loss. Your doctor will determine the optimal timing for all needed surgeries.

Cleft lip and palate surgery takes place in a hospital. Your child will receive anesthesia so he or she won't feel pain or be awake during surgery. Many different surgical techniques and procedures are used to repair cleft lip and palate and reconstruct the affected areas. In general, procedures may include:

• Cleft lip repair. To close the separation in the lip, the surgeon makes incisions on both sides of the cleft and creates flaps of tissue. The flaps are then stitched together. The repair should create a more normal lip appearance, structure and function.
• Cleft palate repair. Various procedures may be used to close the separation and rebuild the hard and soft palate (roof of the mouth). The surgeon makes incisions on both sides of the cleft and uses specialized techniques to reposition tissue and muscles. The repair is then stitched closed, usually along the midline of the roof of the mouth.
• Teethridge bone grafting. If the cleft includes the upper teethridge, bone from another site in the body, such as the leg, shoulder or rib, will be transplanted into the teethridge. The bone will grow and strengthen the ridge so that teeth can grow normally.

Other surgeries may be needed to improve the appearance of the lip and nose. Some children may need jaw surgery.

The scars of a cleft repair are usually positioned in the normal folds of the upper lip and nose. The scars will fade over time, but will always be visible.

Surgery can result in significant improvement in your child's appearance, quality of life and ability to eat, breathe and talk. Possible risks of surgery include bleeding, infection, poor healing, puckering of scars, and temporary or permanent damage to nerves, blood vessels or other structures.

Therapies
Your doctor may recommend additional treatments based on continuing assessment of your child's speech, developmental and cognitive abilities. These may include speech, hearing and psychological therapies.

Emerging treatments
Areas of investigation that may hold promise for the future include:

• In utero repair. Doctors hope that minimally invasive surgical techniques may someday make it possible to repair cleft lip and cleft palate in fetuses before birth. In animal experiments, this type of early repair has resulted in scar-free healing and normal development of the face and skull.
• Tissue engineering. Tissue engineering is a way to replace damaged or diseased body tissues. New tissue is created by developing a sponge-like matrix or scaffold and "seeding" it with stem cells that can grow into the desired type of tissue and with proteins and other molecules that help direct cell growth. Researchers have used this technique to create new bone in the teethridge in people with cleft palate.

Cleft lip

Cleft lip

The photograph of this baby was taken at age 3 months, before surgery to repair her cleft lip. ...

Cleft lip repaired

Cleft lip repaired

This photograph shows the same child at age 2 1/2, after repair of her cleft lip. ...

Coping and support

No one expects to have a baby with a birth defect. When the excitement of new life is met with the stress of discovering that your baby has a cleft lip or cleft palate, the experience can be emotionally demanding for the entire family.

For the parents and family
When welcoming a baby with cleft lip and cleft palate into your family, keep these coping tips in mind:

• Don't blame yourself. There's probably nothing you could have done differently to prevent the defect.
• Acknowledge your emotions. It's completely normal to feel sad, overwhelmed and upset.
• Find support. Your hospital social worker can help you find community and financial resources and education.

For the child
You can support your child in many ways:

• Focus on your child as a person, not on his or her cleft.
• Point out positive attributes in others that don't involve physical appearance.
• Help your child gain confidence by allowing him or her to make decisions.
• Encourage confident body language, such as smiling and holding his or her head up and shoulders back.
• Keep the lines of communication open. If teasing or self-esteem issues arise at school, be sure your child feels safe talking with you about it.

Prevention

After a baby is born with a cleft, parents are understandably concerned about the possibility of having another child with the same condition. While many cases of cleft lip and cleft palate can't be prevented, consider these steps to increase your understanding or lower your risk:

• Consider genetic counseling. Your doctor can advise you on what genetic testing may offer, such as how much a family history of clefting increases your risk, as well as how blood or DNA samples can be tested for chromosomal syndromes.
• Take prenatal vitamins. Taking a multivitamin before conceiving and during pregnancy may help prevent cleft lip and cleft palate. If you're planning to get pregnant soon, begin taking a prenatal multivitamin now.
• Don't use tobacco or alcohol. Use of alcohol or tobacco during pregnancy increases the risk of having a baby with a cleft defect.