Orofacial Cleft – Causes, Symptoms, Treatment - Health

Orofacial cleft is a group of conditions that includes cleft lip, cleft palate, and both together. A cleft lip contains an opening in the upper lip that may extend into the nose.^[rx] The opening may be on one side, both sides, or in the middle.^[rx] A cleft palate occurs when the roof of the mouth contains an opening into the nose. These disorders can result in feeding problems, speech problems, hearing problems, and frequent ear infections. Less than half the time the condition is associated with other disorders.^[rx]

Cleft lip deformity is one of the most common congenital deformities, and management requires an interprofessional approach to address the physical cleft deformity along with resulting issues in speech and swallowing. Many types of cleft lip deformity can occur, often simultaneously with a cleft palate. A microform or occult cleft occurs when the patient has incomplete separation of the lip with distortion but not separation of the white roll/vermillion border. An incomplete cleft lip has lip separation through the white roll/vermillion border and often a downward displacement of the ala but an intact nasal sill with a fibrous band called a Simonart band. A complete cleft lip has complete separation of lip and nasal sill. Patients also can have either unilateral or bilateral cleft lips.[rx][rx]

Children with cleft lip often require multiple surgeries and interprofessional care. The costs of managing cleft lip is enormous; in addition, many of these children are left with lifetime psychological problems.

Types of Orofacial Cleft

The clefting of the palate is most usefully described by the Veau classification:

Veau-I cleft palate – A midline cleft of the velum (soft palate), with the intact hard palate.
Veau-II cleft palate – A midline cleft of the velum (soft palate) and secondary hard palate (posterior to the incisive foramen), with intact primary palate (anterior to the incisive foramen)
Veau-III cleft palate – A cleft of the velum (soft palate), extending unilaterally through the secondary hard palate, past the incisive foramen, and through the primary hard palate and alveolus. The vomer (the bony part of the nasal septum) remains attached to the palatal shelf on the greater segment (non-cleft side).
Veau-IV cleft palate – A cleft of the velum (soft palate), extending in the midline through the secondary hard palate up to the incisive foramen and then bilaterally through the primary hard palate and alveolus on each side. The vomer (the bony part of the nasal septum) remains in the midline and is attached to the premaxilla.

Pathophysiology

Patients with cleft lips have altered anatomy, including a short philtrum with one or both of the philtral columns affected as well as an abnormal orbicularis oris which is inserted into the cleft margin and alar wing. In addition, the patient will have a predictable pattern of nasal deformities including a caudally dislocated nasal septum separated from a displaced anterior nasal spine of the maxilla, a shortened columella, attenuated flattened lower lateral nasal cartilage on the cleft side with the flared alar base, and an inferiorly rotated upper later nasal cartilage. Also, patients with cleft lips inherently will have some degree of the alveolar cleft with potential for collapse of the maxillary arch and class III malocclusion (the maxillary teeth sit posterior to the mandibular teeth). These hard and soft tissue anatomic changes translate to the various changes in appearance, speech, and swallowing/feeding seen in cleft lip patients. [rx]

Cleft lip usually develops at the junction between the lateral and central segments of the upper lip. The cleft usually affects the upper lip and may extend into the maxilla and palate.

Causes of Orofacial Cleft

At three to six weeks gestation, the nose and lip form from embryonic structures, which are contributions of the 1st and 2nd pharyngeal arches and referred to as the two lateral nasal processes, the two medial nasal processes of the frontonasal prominence, and the two maxillary processes. The nasal alae are a result of the lateral nasal processes. The medial nasal processes form the nasal tip, columella, philtrum, and premaxilla. Cleft lips, which usually involve clefts of the primary palate anterior to the incisive foramen, occur due to lack of fusion of the medial nasal process of the frontal nasal prominence with the maxillary process. Of note, the medial nasal processes coalesce in the midline and then connect to each of the lateral nasal processes. Failure of either of these occurrences can result in clefts involving the nose. [rx][rx]

Cleft lip and cleft palate occur when tissues in the baby’s face and mouth don’t fuse properly. Normally, the tissues that make up the lip and palate fuse together in the second and third months of pregnancy. But in babies with cleft lip and cleft palate, the fusion never takes place or occurs only part way, 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.

The mother or the father can pass on genes that cause clefting, either alone or as part of a genetic syndrome that includes a cleft lip or cleft palate 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.

Risk factors

Recently, CDC reported on important findings from research studies about some factors that increase the chance of having a baby with an orofacial cleft:

Smoking―Women who smoke during pregnancy are more likely to have a baby with an orofacial cleft than women who do not smoke.^[rx-rx]
Diabetes―Women with diabetes diagnosed before pregnancy have an increased risk of having a child with a cleft lip with or without cleft palate, compared to women who did not have diabetes.^prx]
Use of certain medicines―Women who used certain medicines to treat epilepsy, such as topiramate or valproic acid, during the first trimester (the first 3 months) of pregnancy have an increased risk of having a baby with cleft lip with or without cleft palate, compared to women who didn’t take these medicines.^[rx-rx]

CDC continues to study birth defects, such as cleft lip and cleft palate, and how to prevent them. If you are pregnant or thinking about becoming pregnant, talk with your doctor about ways to increase your chances of having a healthy baby.

Several factors may increase the likelihood of a baby developing a cleft lip and cleft palate, including:

Family history – Parents with a family history of cleft lip or cleft palate face a higher risk of having a baby with a cleft.
Exposure to certain substances during pregnancy – Cleft lip and cleft palate may be more likely to occur in pregnant women who smoke cigarettes, drink alcohol or take certain medications.
Having diabetes – There is some evidence that women diagnosed with diabetes before pregnancy may have an increased risk of having a baby with a cleft lip with or without a cleft palate.
Being obese during pregnancy – There is some evidence that babies born to obese women may have increased risk of cleft lip and palate.

Males are more likely to have a cleft lip with or without cleft palate. Cleft palate without cleft lip is more common in females. In the United States, cleft lip and palate are reportedly most common in Native Americans and least common in African-Americans.

Symptoms of Orofacial Cleft

Usually, a split (cleft) in the lip or palate is immediately identifiable at birth. Cleft lip and cleft palate may appear as:

A split in the lip and roof of the mouth (palate) that affects one or both sides of the face
A split in the lip that appears as only a small notch in the lip or extends from the lip through the upper gum and palate into the bottom of the nose
A split in the roof of the mouth that doesn’t affect the appearance of the face
difficulty feeding – a baby with a cleft lip and palate may be unable to breastfeed or feed on a normal bottle because they cannot form a good seal with their mouth
hearing problems – some babies with a cleft palate are more vulnerable to ear infections and a build-up of fluid in their ears (glue ear), which may affect their hearing
dental problems – a cleft lip and palate can mean a child’s teeth do not develop correctly and they may be at a higher risk of tooth decay
speech problems – if a cleft palate is not repaired, it can lead to speech problems such as unclear or nasal-sounding speech when a child is older\

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. This type of cleft often goes unnoticed at birth and may not be diagnosed until later when signs develop. Signs and symptoms of submucous cleft palate may include:

Difficulty with feedings
Difficulty swallowing, with potential for liquids or foods to come out the nose
Nasal speaking voice
Chronic ear infections

Diagnosis of Orofacial Cleft

History and Physical

The first evaluations of patients with cleft palate occur at an early age as the physical appearance is readily noted on examination after birth. In early cleft evaluation, one must note concomitant cleft palate as this will have several implications on feeding, swallowing and speech. One should note the width of the cleft, whether the cleft is unilateral or bilateral, and whether it is incomplete or complete. Alveolar clefts should be noted as well as the width of the cleft. In bilateral clefts, the premaxilla may be anteriorly displaced, which may require intervention before surgery with naso-alveolar molding.

Evaluation

It is vital for cleft care to involve an interprofessional team early on and to evaluate the patient from head to toe for other medical comorbidities and associated syndromes. Pediatric/neonatal intensive care teams are vital to the early care of these children for required medical needs. Genetics consults for patients in whom an associated syndrome is suspected are important. Any abnormalities noted should receive indicated work up. Speech-language pathologists and nutrition consults are usually required to teach parents techniques to meet the special feeding needs of these children. When patients do not meet feeing requirements for adequate nutrition, which is most common when there is a concomitant cleft palate, feeding access is sometimes required with the assistance of the pediatric surgery team. Establishment of care with orthodontists and plastic surgeons or otolaryngologists who specialize in patients with cleft lip deformity is important to assess the need for interventions and follow these patients long term. [rx][rx]

Today ultrasound can easily diagnose cleft deformity during the second trimester.

Treatment of Orofacial Cleft

The goals of treatment for cleft lip and cleft palate are to improve the child’s ability to eat, speak and hear normally and to achieve a normal facial appearance.

The main treatments are

surgery – an operation to correct a cleft lip is usually done when your baby is 3 to 6 months and an operation to repair a cleft palate is usually done at 6 to 12 months
feeding support – you may need advice about positioning your baby on your breast to help them feed, or you might need to feed them using a special type of bottle
monitoring hearing – a baby born with cleft palate has a higher chance of glue ear, which may affect hearing. Close monitoring of their hearing is important and if glue ear affects their hearing significantly, a hearing aid may be fitted or small tubes called grommets may be placed in their ears to drain the fluid
speech and language therapy – a speech and language therapist will monitor your child’s speech and language development throughout their childhood and help with any speech and language problems
good dental hygiene and orthodontic treatment – you’ll be given advice about looking after your child’s teeth, and they may need braces if their adult teeth don’t come through properly

Care for children with cleft lip and cleft palate often involves a team of doctors and experts, including

Surgeons who specialize in cleft repair, such as plastic surgeons or ENTs
Oral surgeons
Ear, nose and throat doctors (ENTs, also called otorhinolaryngologists)
Pediatricians
Pediatric dentists
Orthodontists
Nurses
Auditory or hearing specialists
Speech therapists
Genetic counselors
Social workers
Psychologists

Treatment involves surgery to repair the defect and therapies to improve any related conditions. Your doctor may recommend additional treatment for complications caused by cleft lip and cleft palate. Examples include:

Feeding strategies, such as using a special bottle nipple or feeder
Speech therapy to correct difficulty with speaking
Orthodontic adjustments to the teeth and bite, such as having braces
Monitoring by a pediatric dentist for tooth development and oral health from an early age
Monitoring and treatment for ear infections, which may include ear tubes
Hearing aids or other assistive devices for a child with hearing loss
Therapy with a psychologist to help the child cope with the stress of repeated medical procedures or other concerns

In neonates with a cleft lip the three major concerns are:

Difficulties with feeding
Risk of aspiration
Airway obstruction

Treatment of patients with cleft lip deformity is a long-term commitment. Medical treatment will largely focus on requirements from any concomitant congenital abnormalities and based on nutritional needs. Within the first few weeks to months of life, nasoalveolar molding (NAM) can be employed with assistance from an orthodontist. This involves the creation of an orthodontic appliance that molds a protruding premaxillary segment and alveolar process into a more favorable position. This allows for repositioning of the alveolar segments, medialization of the alar base, and columellar lengthening, which allows for easier surgical repair of cleft lip and nasal cleft deformity down the line. These require frequent adjustments by the orthodontist. Other treatment adjuncts that assist with decreasing the severity/width of the cleft early on are lip taping (often performed in patients with less severe clefts) and lip adhesion (an approximation of the cleft lip edges without changing lip landmarks or disturbing tissue required for definitive closure, often used in patients with wide clefts who are poor NAM candidates for social or geographic reasons).

Surgery

Surgical intervention for initial cleft lip usually occurs at 3 to 5 months of age. A good rule of thumb in deciding the age at which is it safe to perform primary cleft lip repair is the “Rule of 10s.” If the infant is ten weeks old, 10 pounds, and hemoglobin has reached 10mg/dL, surgical repair should be safe if no other comorbidities preclude it. There are many accepted surgical techniques for primary repair of unilateral (Millard repair rotation advancement, Fisher repair, and Mohler repair) and bilateral (Mulliken repair) cleft lips, and the surgical details are out of the scope of this article. However, common goals in all repairs are to re-establish a competent orbicularis oris muscle, lengthen the philtrum and lip, and minimize visible scarring. In primary cleft repair, some surgeons perform gingivo periosteoplasty, which involved the elevation of the mucoperiosteal flaps along an alveolar segment with wide-undermining to promote bone growth along the periosteum, but this is not a universal practice. [rx][rx]

Because many of these children also have otitis media, it is important to have an ENT specialist involved in the care. During the cleft lip repair, ventilation tubes are placed but children continue to have eustachian tube dysfunction for many years.

Surgery to correct cleft lip and palate is based on your child’s particular situation. 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 — within the first 3 to 6 months of age
Cleft palate repair — by the age of 12 months, or earlier if possible
Follow-up surgeries — between age 2 and late teen years

Cleft lip and palate surgery takes place in a hospital. Your child will receive a general anesthetic, so he or she won’t feel pain or be awake during surgery. Several different surgical techniques and procedures are used to repair cleft lip and palate, reconstruct the affected areas, and prevent or treat related complications.

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, including the lip muscles. The repair should create a more normal lip appearance, structure, and function. Initial nasal repair, if needed, is usually done at the same time.
Cleft palate repair – Various procedures may be used to close the separation and rebuild the roof of the mouth (hard and soft palate), depending on your child’s situation. The surgeon makes incisions on both sides of the cleft and repositions the tissue and muscles. The repair is then stitched closed.
Ear tube surgery – For children with cleft palate, ear tubes may be placed to reduce the risk of chronic ear fluid, which can lead to hearing loss. Ear tube surgery involves placing tiny bobbin-shaped tubes in the eardrum to create an opening to prevent fluid buildup.
Surgery to reconstruct appearance – Additional surgeries may be needed to improve the appearance of the mouth, lip, and nose.

Surgery can significantly improve your child’s appearance, quality of life, and ability to eat, breathe, and talk. Possible risks of surgery include bleeding, infection, poor healing, widening or elevation of scars, and temporary or permanent damage to nerves, blood vessels, or other structures.

Feeding help and advice

Many babies with a cleft palate have problems breastfeeding because of the gap in the roof of their mouth.

They may struggle to form a seal with their mouth – so they may take in a lot of air and milk may come out of their nose. They may also struggle to put on weight during their first few months.

A specialist cleft nurse can advise on positioning, alternative feeding methods and weaning if necessary.

If breastfeeding is not possible, they may suggest expressing your breast milk into a flexible bottle that is designed for babies with a cleft palate.

Very occasionally, it may be necessary for your baby to be fed through a tube placed into their nose until surgery is carried out.

Treating hearing problems

Children with a cleft palate are more likely to develop a condition called glue ear, where fluid builds up in the ear.

This is because the muscles in the palate are connected to the middle ear. If the muscles are not working properly because of the cleft, sticky secretions may build up within the middle ear and may reduce hearing.

Your child will have regular hearing tests to check for any issues.

Hearing problems may improve after cleft palate repair and, if necessary, can be treated by inserting tiny plastic tubes called grommets into the eardrums. These allow the fluid to drain from the ear.

Dental care

If a cleft involves the gum area, it’s common for teeth on either side of the cleft to be tilted or out of position. Often a tooth may be missing, or there may be an extra tooth.

A paediatric dentist will monitor the health of your child’s teeth and recommend treatment when necessary. It’s also important that you register your child with a family dentist.

Orthodontic treatment, which helps improve the alignment and appearance of teeth, may also be required. This can include braces or other dental appliances to help straighten the teeth.

Brace treatment usually starts after all the baby teeth have been lost, but may be necessary before a bone graft to repair the cleft in the gum.

Children with a cleft are more vulnerable to tooth decay, so it’s important to encourage them to practise good oral hygiene and to visit their dentist regularly.

Speech and language therapy

Repairing a cleft palate will significantly reduce the chance of speech problems, but in some cases, children with a repaired cleft palate still need speech therapy.

A speech and language therapist (SLT) will assess of your child’s speech several times as they get older.

If there are any problems, they may recommend further assessment of how the palate is working and/or work with you to help your child develop clear speech. They may refer you to community SLT services near your home.

The SLT will continue to monitor your child’s speech until they are fully grown and they will work with your child for as long as they need assistance.

Further corrective surgery may sometimes be required for a small number of children who have increased airflow through their nose when they’re speaking, resulting in nasal-sounding speech.

Frequently Asked Questions (FAQ) about cleft lip and cleft palate

Q: Do children with a cleft lip always have a cleft palate (or vice versa)?
A: No. A child can be born with just a cleft lip, just a cleft palate or a combination of both.

Q: Can cleft lip and cleft palate be prevented?
A: At the moment, there is no known way to prevent cleft lip and cleft palate; in order to understand how to prevent these defects, we would first need to understand how and why they occur. Researchers are hard at work on uncovering new insights, but have found no proven cause as of yet.

Some theories suggest that certain steps might contribute to preventing cleft lip and cleft palate, namely:

undergoing genetic testing and genetic counseling
avoiding alcohol and tobacco consumption during pregnancy
increasing the intake of folic acid during pregnancy

Q: Are all cleft lips the same?
A: No; in fact, there are several types of cleft lip.

The lip, nose and palate can all be involved to varying degrees. The major types of cleft lip are:

unilateral (occurring to either the left or right of the midline of the face and mouth; for reasons we don’t fully understand, the left side is more commonly affected)
bilateral (occurring on both the left and right sides)

And there are three subtypes:

incomplete (only partial fusion of the two sides of the top lip)
complete (total absence of any fusion)
asymmetrical (complete on one side and incomplete on the other)

Q: Can my child’s cleft lip be repaired?
A: Yes. Your child’s cleft lip can be closed with a surgical procedure. After the operation, your child’s mouth and nose will be near normal in appearance and should function normally.

Q: When will my child’s cleft lip be repaired?
A: Most cleft lips are closed before 6 months of age. If your child also has a cleft palate, that will be repaired in a separate operation. Your plastic surgeon will talk to you about the best surgical timing for your child.

Q: Are all cleft palates the same?
A: No. The palate is composed of two parts, a fleshy, muscular part (soft palate) and a bony part (hard palate). The soft and hard palate can be involved to varying degrees.

Q: Can my child’s cleft palate be repaired?
A: Yes. The opening in the hard and/or soft palate is usually closed in one operation, though your child may need more than one procedure depending on his particular circumstances. Your treatment team will outline specific recommendations.

Q: Are there genetic tests to screen for cleft lip and cleft palate?
A: Unfortunately, no. At this time, there are no available tests that can detect the genetic changes responsible for cleft lip and cleft palate.

Q: If my child has cleft lip and cleft palate, what are the chances that my future children will have the defect, too?
A: The chance of having more than one child with a cleft lip and/or cleft palate is different for each family. In general, if there is one affected person in the family with a cleft, the likelihood of having a child with a cleft lip and/or palate is 2 to 5 percent. If there is a second affected person in the family (either another sibling or a parent), the chance of future children having a cleft lip increases to 10 to 14 percent, and the risk of a future child having an isolated cleft palate rises to 8 percent.

Here at Children’s, a geneticist on your child’s cleft treatment team can provide detailed information about your family’s particular situation.

Q: Can I breastfeed my baby?
A: If your infant has a cleft lip only, they should be able to directly breastfeed without any modifications. If your infant has a cleft palate, breastfeeding can be difficult because the baby is often not able to create the suction necessary due to the cleft. Breast milk may still be pumped and provided to the baby via a specialty bottle. Our nurses in the department are experts in feeding infants with clefts and will work with you to find the options that are best for your baby.

Q: Will my child have difficulty hearing?
A: Not necessarily, but it is possible. Children born with a cleft palate often have temporary hearing loss because of fluid in the middle ear and recurring ear infections. This hearing loss may last for a short time, or it may persist for a number of months.

Speech and language development is influenced by a child’s ability to hear well. Your child will undergo her first hearing test early in life, and will be tested again prior to the operation to repair her cleft palate. Her age and developmental level will determine which hearing test method will be used. Children born with cleft palates often need to have ear tubes placed at the time of the cleft palate repair.

Q: Will my child experience difficulty speaking?
A: Possibly. Some children with a cleft palate have speech and language delays. These may be related to the temporary hearing loss associated with the cleft palate and middle ear fluid.

Some children exhibit difficulty with speech if their palate is not effectively closing off the nose from the mouth while they are speaking. However, the good news is that most will acquire speech and language skills at a normal pace after the palate is closed and middle ear tubes are placed for drainage.

Q: Will my child’s cleft lip and cleft palate affect his dental health?
A: If your child has a cleft lip and/or cleft palate, he may be more susceptible to developing cavities.

Q: Will my child need orthodontic therapy?
A: If the palate or gum line (alveolus) were affected by the cleft, it is likely that your child will require some form of orthodontic treatment.

References

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