Cleft lip and cleft palate — an opening in the lip or palate — may occur separately or in combination. These deformities originate in the second month of pregnancy, when the front and sides of the face and the palatine shelves fuse imperfectly. Cleft deformities usually occur unilaterally or bilaterally, rarely midline. Only the lip may be involved, or the defect may extend into the upper jaw or nasal cavity.
Cleft lip and cleft palate occur in twice as many males as females; isolated cleft palate is more common in females.
Cleft lip or palate most commonly occurs as an isolated birth defect. Isolated cleft lip with or without cleft palate and cleft palate only are the result of a disruption in the normal development of the orofacial structures. This disruption in development is thought to be the result of a combination of genetic and environmental factors. Cleft lip or cleft palate may also occur as part of a chromosomal or Mendelian syndrome (cleft defects are associated with over 300 syndromes). Exposures to specific teratogens during fetal development may also produce these defects.
Cleft lip with or without cleft palate occurs in approximately 1 in 1,000 births among Whites; the incidence is higher in Asians (1.7 in 1,000) and Native Americans (over 3.6 in 1,000) but lower in Blacks (1 in 2,500).
A family history of cleft defects increases the risk of a couple having a child with a cleft defect. Likewise, an individual with a cleft defect is at an increased risk for having a child with a cleft defect. Children with cleft defects and their parents or adult individuals should be referred for genetic counseling for accurate diagnosis of cleft type and recurrence risk counseling. Recurrence risk information is based on family history, the presence or absence of other physical or cognitive traits within a family, and prenatal exposure information.
Orofacial cleft defects are divided into two major groups: cleft lip with or without cleft palate or cleft palate only. Cleft of the lip may involve the alveolus (premaxilla) and may extend through the palate (hard and soft). Congenital clefts of the face occur most commonly in the upper lip. They can range from a simple notch to a complete cleft from the lip edge, through the floor of the nostril and through the alveolus. Cleft lip can occur on either or both sides of the midline but rarely along the midline itself. A cleft lip involving only one side is a unilateral cleft lip, and a cleft on both sides of the midline is a bilateral cleft lip. When a bilateral cleft lip involves clefting of the alveolus on both sides of the premaxilla, the premaxilla is separated from the maxilla into a freely moving segment.
A cleft of the palate only may be partial or complete, involving only the soft palate or extending from the soft palate completely through the hard palate. A cleft palate can occur alone or with a cleft lip. Isolated cleft palate is more commonly associated with congenital defects other than isolated cleft lip with or without cleft palate. (See Variations of cleft lip and cleft palate.) The constellation of U-shaped cleft palate, mandibular hypoplasia, and glossoptosis is known as Pierre Robin syndrome, or Robin syndrome. Robin syndrome can occur as an isolated defect or one feature of many different syndromes; therefore, a comprehensive genetic evaluation is suggested for infants with Robin syndrome. Because of the mandibular hypoplasia and glossoptosis, careful evaluation and management of the airway are mandatory for infants with Robin syndrome.
A typical clinical picture confirms the diagnosis. Cleft lip with or without cleft palate is obvious at birth; occasionally, more severe defects may be seen with diagnostic prenatal ultrasonography. Cleft palate without cleft lip may not be detected until a mouth examination is done or until feeding difficulties develop.
Treatment consists of surgical correction, but the timing of surgery varies. Some plastic surgeons repair cleft lips within the first few days of life to make feeding the baby easier. However, many surgeons delay lip repairs for 8 to 10 weeks (sometimes as long as 6 to 8 months) to allow the infant to grow and mature, thereby minimizing surgical and anesthesia risks, ruling out associated congenital anomalies, and allowing time for parental bonding. Cleft palate repair is usually completed by the 12th to 18th month. Still other surgeons repair cleft palates in two steps, repairing the soft palate between ages 6 and 18 months and the hard palate as late as age 5 years. In any case, surgery is performed only after the infant is gaining weight and infection-free.
Surgery must be coupled with speech therapy. Because the palate is essential to speech formation, structural changes, even in a repaired cleft, can permanently affect speech patterns. To compound the problem, children with cleft palates commonly have hearing difficulties because of middle ear damage or infections.
❑ Recent research has indicated that ingestion of 0.4 mg of folic acid twice daily before conception may decrease the risk of isolated cleft defects.
❑ Maintain adequate nutrition to ensure normal growth and development. Experiment with feeding devices. A baby with a cleft palate has an excellent appetite but often has trouble feeding because of air leaks around the cleft and nasal regurgitation. He usually feeds better from a bottle and nipple designed specifically for feeding infants with cleft defects. These bottles come with special nipples or regular nipples with enlarged holes and may be used with cleft palate bottles.
Teach the parents how best to feed the infant. Advise them to hold the infant in a near-sitting position, with the flow directed to the side or back of the baby's tongue. Tell them to burp the baby frequently because he tends to swallow a lot of air. If the underside of the nasal septum becomes ulcerated and the child refuses to suck because of the pain, instruct the parents to direct the nipple to the side of his mouth to give the mucosa time to heal. Tell them to gently clean the palatal cleft with a cotton-tipped applicator dipped in half-strength hydrogen peroxide or water after each feeding.
❑ Encourage the mother of a baby with cleft lip to breast-feed if the cleft doesn't prevent effective sucking. Breast-feeding an infant with a cleft palate or one who has just had corrective surgery usually isn't possible. (Postoperatively, the infant can't suck for 6 to 10 weeks.) However, if the mother desires, suggest that she use a breast pump to express breast milk and then feed it to her baby from a bottle.
❑ Following surgery, record intake and output and maintain good nutrition. To prevent atelectasis and pneumonia, the physician may gently suction the nasopharynx (this may be necessary before surgery, too). Restrain the infant to prevent him from hurting himself. Elbow restraints allow the baby to move his hands while keeping them away from his mouth. When necessary, use an infant seat to keep the child in a comfortable sitting position. Hang toys within reach of restrained hands.
❑ Surgeons sometimes place a curved metal bow over a repaired cleft lip to minimize tension on the suture line. Remove the gauze before feedings, and replace it often. Moisten it with normal saline solution until the sutures are removed. Check your hospital policy to confirm this procedure.
❑ Help the parents deal with their feelings about the child's disability. Start by telling them about it and showing them their baby as soon as possible. Because society places undue importance on physical appearance, many parents feel shock, disappointment, and guilt when they see the child. Help them by being calm and providing positive information.
Direct the parents' attention to their child's assets. Stress the fact that surgical repairs can be made. Include the parents in the care and feeding of the child right from the start to encourage normal bonding. Provide the instructions, emotional support, and reassurance that the parents will need to take proper care of the child at home.
❑ Refer the parents to a social worker who can guide them to community resources, if needed, and to a genetic counselor to determine the recurrence risk. Refer the family to the American Cleft Palate-Craniofacial Association for information and support.