What is cleft lip and palate?
Cleft lip and cleft palate deformities are present at birth and originate during the 4th through 7th weeks of human development (embryology). Several primitive facial structures must fuse during this time in order to unite the two halves of the face with a central prominence. When fusion does not occur, the result is a cleft lip and/or a cleft palate. Depending on the degree of fusion or the lack thereof, various presentations and severities of cleft lip and/or palate are possible. A unilateral cleft lip signifies a failure of fusion only on one side of the upper lip and corresponds to the native philtral column of Cupid’s bow. A bilateral cleft lip results from the failure of the outer face to fuse with the central nasal prominence. In this case, both philtral columns fail to fuse, producing two separate gaps in the upper lip with a central loose segment. A cleft palate is frequently associated with a cleft lip, although it can occur as an isolated deformity. The process of palate formation is continuous from the lip area (primary palate) to the soft palate (secondary palate). Anytime during this process, the failure of fusion will result in an opening in the palate with speech disturbance as a consequence. There are different configurations and severities of both cleft lip and cleft palate. A partial cleft lip or palate can be categorized as incomplete, whereas a total failure of fusion is called complete.
Why does cleft lip and palate occur?
Cleft lip and palate are still one of the most common birth deformities in the United States. It is estimated to occur in 1 out of 700 live births. The vast majority of cleft lip and palate deformities (more than 60 percent) have no known cause. The incidence of cleft lip and palate is multifactorial in nature. In other words, there are a number of potential environmental exposures that may lead is occurrence including use of certain medications, maternal smoking, alcohol, recreational drugs, steroids, and folate deficiency. Racial prevalence has also been noted in the occurrence of cleft lip with or without cleft palate. Asian populations have the highest prevalence, followed by Caucasians and people of African ancestry. Boys also have a higher prevalence than girls. There are some known genetic associations with cleft lip and/or palate. Trisomy 21 (or, Down’s syndrome), trisomy 18, trisomy 13, and a number of craniofacial syndromes (eg, Apert, Crouzon, Pfeiffer, Van der Woude, Stickler) are also associated with higher rates of cleft lip and/or palate. There may be some element of developmental delay in association with genetic disorders.
What are the associated problems with cleft lip and palate?
Aside from the cosmetic deformity associated with a cleft lip, other problems may arise including ineffective breastfeeding, speech disturbance, dental abnormalities, and nasal deformity. Depending on the underlying cause, other problems can occur including cardiac issues, learning disabilities, and other syndromic deformities. Specialized nipples (eg, Haberman or Pigeon) are used to improve feeding ability in the absence of an effective suck.
Can cleft lip and palate be passed on?
The ability to pass along or to have another child with a cleft lip and/or palate differs based on a number of factors. In the absence of a known genetic condition, a parent with a cleft has approximately a 4 to 6 percent chance of passing on the condition to a child. When the child of non-affected parents has a cleft, then there is approximately a 2 to 8 percent chance of having another child with a cleft. When both parent and child have a cleft, the chance of having another child with a cleft is even higher. In general, the more first degree family members that are affected, the higher the chance of passing on the deformity. Also, bilateral cleft variants tend to carry higher likelihood of more family members being affected. A consultation with a genetics counselor is vital in accounting for all variables contributing to cleft lip and/or palate deformity and for providing a better foundation for family planning.
How is cleft lip and palate treated?
Currently, surgery is the only option for correcting a cleft lip or cleft palate. Prior to surgery, applying tape to the upper lip may be initiated as early as the first day of life to keep the segments of the upper lip in proximity while the child grows. Alternatively, in some institutions, nasoalveolar molding (NAM) is performed by specially-trained dentists in order to align the upper lip segments while shaping the deformed cartilage of the nose.
Lip repair is done decidedly earlier (3 months of age) than palate repair (10 months of age) by most surgeons. Whereas cleft lip repair is often an outpatient procedure, cleft palate repair (or, palatoplasty) requires an overnight admission for observation.
Cleft lip repair involves moving adjacent sections of the upper lip together to re-establish continuity. Repair of the underlying muscle sphincter (ie, orbicularis oris) is vital to restoring proper upper lip function. Considerations for surgical repair are quite different for unilateral versus bilateral cleft lips; however, the concepts and goals of repairing the three layers of the upper lip (ie, mucous lining, muscle, and skin) are the same. In addition, care is taken to recreate Cupid’s bow of the upper lip and the distorted nose to obtain optimal cosmetic results. Average surgical time is 2 hours or less.
Surgical repair of a cleft palate (or, palatoplasty) involves the repair of both the hard and soft palate in separate layers as well. This involves closing the oral mucous lining, nasal mucous lining, and the intervening muscle layer of the soft palate. Proper soft palate repair is critical for the development of intelligible speech. As the palatal muscles contract, the soft palate rises to contact the back of the throat (or, posterior pharynx) to direct air flow through the mouth only. Words and sounds are then shaped by the mouth (ie, tongue, lips, and teeth). Average surgical time is 2 to 3 hours, depending on severity.
Both lip and palate surgeries may sometimes be combined with ear examinations under anesthesia by an ENT surgeon with pressure equalization tube (PE tube) insertion. This is a common intervention in patients with cleft palate. Average surgical time is 15-30 minutes.
Between 8 and 12 years of age, patients having a cleft of the gum line (or, alveolus) will need a bone graft to fill in the bony gap permanently. This is usually coordinated with orthodontic treatment while the patient is in the “mixed dentition” phase (when baby teeth are almost all replaced by permanent teeth). There is a certain element of timing when considering bone grafting; the gap needs to be closed prior to eruption of the important canine teeth. A dentist, or orthodontist, will time this moment with periodic X-ray exams and relate that information to the plastic surgeon. Bone is then taken from the prominent portion of the pelvis near the skin along the waistline through a small incision. The area of the cleft alveolus is then opened and packed with the harvested bone, then closed with sutures. This is typically an outpatient procedure as well. A small catheter is usually left in place in the hip donor site to provide continuous infusion of a local anesthetic to blunt the pain. This is left in place for 3 to 5 days and is withdrawn at home by the parents when the dressings come off. Average surgical time is 3.5 hours.
Sometimes, in approximately 30 percent of patients, a secondary procedure is required to improve speech. This is done at any age, but most often around 3 to 7 years of age. There are several options for this: 1) pharyngeal flap, 2) sphincter pharyngoplasty, or 3) fat injection of the posterior pharynx. The surgery involves rearranging the tissue in the back of the throat to help make the movement of the palate more efficient and achieve improved closure for speech. The decision to proceed with surgery is made usually with input from the child’s speech therapist in conjunction with a nasopharyngoscopy exam. Children must be cooperative for this exam since it is performed while awake. The choice of surgical intervention employed relies on the severity of the problem. Information from the speech therapist and the nasopharyngoscopy will also help determine this. Average surgical time is 2 hours and typically requires an overnight hospital stay.
In many children with a cleft palate component, underdevelopment of the upper jaw (midface hypoplasia) can occur frequently. This problem magnifies over time in the form of an aggressive underbite. The jaw problems can also affect speech, but more importantly, they produce a long lasting cosmetic deformity. Jaw surgery for this problem is performed typically when children reach skeletal maturity (approximately 17 to 20 years of age). The results are usually excellent; however, extensive multidisciplinary planning is required. An oral and maxillofacial surgeon will then plan the surgery using several dental impressions ahead of time. Average surgical time is between 4 and 6 hours depending on the surgical plan and severity of the problem. A short period of inpatient hospitalization is usually required.
Revision surgery is a common part of cleft lip reconstruction. Sometimes, small irregularities in the lip require additional minor surgical intervention. In cases of severe residual deformity (eg, in bilateral cleft lip) an Abbé flap may be required. This is a staged procedure whereby a portion of the lower lip is rotated and inset into the heavily scarred area of the central upper lip. It is left attached to the lower lip between 2 and 3 weeks while vascularity in the transplanted tissue takes hold before proceeding to the second stage of surgery. In the second stage, the attachment is severed, and the upper lip is meticulously repaired. Results are excellent. Average surgical time is approximately 2 to 3 hours per stage and can be done on an outpatient basis.
What is the recovery from cleft lip and/or palate surgery?
Cleft lip repair is now practiced as an outpatient procedure by many centers. The lip incision is coated with skin glue or held together with small sutures which may need to be removed in one week. Children are allowed to feed immediately after surgery and are allowed to return to their usual physical activity level. Supervision is required, but restraints are not, as infants do not typically feel the urge to manipulate the surgical site. The parent experience is much improved with a “less-is-more” approach. Follow up occurs at 1 and 4 weeks postoperatively. Scar management (ie, massage, taping, sunblock, moisturizing cream application) is started at 4 weeks postoperatively.
Cleft palate repair does require overnight hospitalization to monitor for bleeding or respiratory difficulties. Also, the ability of the child to keep up with oral hydration and feeding is monitored. Some oral and/or nasal bleeding is expected for up to 1 week postoperatively. Follow up occurs at 1 and 6 weeks postoperatively. A soft diet is mandatory during this period of time, however, children are allowed to return to their usual level of activity immediately after surgery.
Speech therapy is a major part of cleft palate management. Approximately, two thirds of patients will experience some element of speech disturbance. This usually presents in the form of excessive nasal air escape, or, hypernasality. Hypernasality can make for poor intelligibility and can result in improper habit formation that can compound speech difficulties. In general, the longer these speech problems go uncorrected, the more difficult they are to overcome in the long run. In approximately one third of patients, long-term speech therapy will be sufficient, while another third may require surgical intervention to reduce hypernasality by making palatal movement more efficient (as described above).
What are the risks and complications of cleft lip or cleft palate surgery?
All cleft procedures have been practiced and refined over decades of work. Their safety profile is excellent. However, as with any other surgery, risks and complications may occur rarely. As with any other surgery, cleft lip and palate repairs carry a risk of bleeding, infection, or anesthesia complications. For cleft lip repair, there is a small risk of bad scarring (ie, hypertrophic scarring or keloids) and residual deformities such as excessive upper lip bulk or asymmetry. Wound dehiscence can occur rarely in the early postoperative period. If this does happen, the wound is allowed to heal. A revision surgery may be required later if there is unfavorable scarring, asymmetry, or contour irregularities.
In cleft palate repair, there is a risk of breakdown of the incision line. Many times, this results in spontaneous healing. However, sometimes a communication can develop between the oral and nasal cavities (ie, oronasal fistula). This may need to be repaired if large or if it is causing a speech disturbance. Dehiscence (or, separation) of the soft palate repair will require repair to ensure proper functioning of palatal muscles. As mentioned previously, cleft palate repair may result in airway swelling and subsequent respiratory difficulties in the early postoperative period. This is an extremely rare complication. Lastly, persistent speech problems can occur commonly. Having a speech therapist in place to guide early intervention is a vital component of cleft care.
Secondary procedures for speech correction (ie, velopharyngeal insufficiency or VPI) may be required. When performed, several additional risks are possible depending on the technique used. Respiratory compromise is always the most serious to consider, however rare. It should also be known that sleeping difficulties (eg, obstructive apnea or snoring) may be amplified in some cases. Finally, despite efforts to improve speech, these procedures can sometimes be incompletely effective, resulting in persistent speech problems and long-term reliance on speech therapy.