CLEFT LIP AND PALATE - a parent's guide
The cleft deformities, cleft lip, cleft lip and palate, and cleft palate form the most commonly seen group of paediatric congenital anomalies.
The Cleft Lip and Palate (CLP) deformities comprise one group of a spectrum of facial clefting conditions. These range from isolated and incomplete clefts (splits) of the lip only, to complete clefts of the lip and palate (the roof of the mouth). Broadly speaking, we describe unilateral and bilateral clefts of:
- The upper lip only.
- The lip and palate together.
- The palate only. There are several grades of severity of palatal clefts, as shown in the diagrams below:
Cleft lip and/or palate is the most common form of congenital birth defect seen, and of the 3 types listed, cleft palate is the commonest. Clefts of the palate, either complete or incomplete, are said to occur in 7 in 10 000 European births and in 18 in 10 000 Polynesian births. Clefts of the lip occur in about 11 in 10 000 European births and 7 in 10 000 Polynesian children.
To the parents and family of a baby born with a cleft palate, the knowledge that their baby is not quite perfect, may come as a severe blow. But what exactly does the diagnosis mean? What is the significance of a cleft lip and/or a cleft palate? The cleft lip is obvious - it is visible and affects both appearance and movements of the lip, e.g. in a smile. The palate, however, is not so obvious. So how does a cleft affect the palate? To understand this, one must first have an idea of what the palate is and what it does.
In its simplest essence, the palate may be thought of as a shelf of tissue which separates the mouth (oral cavity) from the nose (nasal cavity). Look at your own face in a mirror: The nostrils have rims which curve down at the sides to meet the upper lip. At their lowest portion, they have a nostril sill, separating them from the upper lip. Imagine you were very tiny, ant-sized. Were you to crawl up and over the nostril sill and into the nostril, you would travel forward, deeper into the nose. and slightly downwards, over the nostril or nasal, floor. On one side would be the nasal septum - the sheet of cartilage and bone, covered by specialized skin and mucosa, that separates one nostril from the other. On the other side would be the lateral or side wall of the nose, which is, simply, the cheek.
Now think of the mouth: behind the upper lip are the upper teeth, set into the gums. The ridge of bone and gum into which the teeth are set is the alveolar ridge. If you run a finger or thumb over the alveolar ridge and down, behind the teeth, you will feel the hollow which flattens out to form the palate itself. Keep pressing firmly on the palate and gradually feel backwards, towards the throat; at first the palate feels hard, with little give. Further back it becomes soft and yielding.
It is not too surprising then, to discover that towards the front of the mouth, the palate comprises a shelf of bone covered above by the mucosa of the floor of the nose, and below, by the mucosa of the roof of the mouth. (When one burns one's mouth on hot food or drink, it is this mucosa that blisters; mucosa is simply highly specialised skin which contains mucous glands to keep it moist and slippery).
The front, bony part of the roof of the mouth, is termed the hard palate. Behind this is the soft palate, consisting of a layer of nasal floor mucosa above and a layer of roof of mouth mucosa below, separated by sheets of muscle, nerves and blood vessels. Given this structure, what does the palate actually do?
A healthy, functional palate is key to several important physiological functions, the most important being feeding, speech and hearing. With exhalation, the air stream travelling up from the lungs enters the back of the throat, the pharynx. If one looks into the back of the throat by opening the mouth wide, one would be looking at the oropharynx (i.e. the pharynx behind the oral cavity or mouth). Above this is the naso-pharynx, or that part of the pharynx behind the nose. In a normal person, one cannot see the naso-pharynx because the palate blocks one's view. What one can see is the small midline bulb of tissue, at the end of the palate, known as the uvula.
As the muscles of the soft palate contract, they tighten and lift the soft palate backwards and upwards until contact is made with the back of the pharynx. This effectively seals the naso-pharynx off from the oro-pharynx. Failure to do this when speaking leads to hypernasal speech, with part of the air stream that should pass over the tongue and passed the lips, escaping into the nose. This phenomenon is termed velo-pharyngeal incompetence or VPI, since the valve which should form between the palate or velum, and the back of the throat, or pharynx, is incompetent, or leaky.
However, problematic speech is not the first hurdle for the cleft palate infant to overcome. Before this, the baby must face difficulties with feeding. Without the physical presence of a palatal shelf against which to compress a nipple or teat, some infants find it impossible to generate adequate suck for effective feeding and must be fed with a positive pressure bottle (a soft, compressible bottle fitted with a cross-cut teat). If the baby takes too long to drink an adequate feed, there is a real risk that the nutritional intake will be inadequate, when balanced against the energy expended in trying to suck and swallow the feed. This can lead to failure to thrive.
Given an adequate mouthful of fluid, some cleft palate infants are prone to aspiration because of the mixing of the air and food streams. This means that some of the fluid feed may be breathed into the trachea or windpipe, leading to coughing, retching and choking, with attendant risks of pneumonia.
Finally, one of the important functions of the palate is in helping to aerate, and therefore keep the middle ear drained. This also helps to equalize air pressure on either side of the ear drum.
The levator veli palatini muscle, one on each side, are attached to the base of the skull, and to the opening of the eustachian tube, a slit-like tube connecting the middle ear to the back of the throat. As the levators contract, they elevate the palate, but also pull open the orifice of the eustachian tube. This equalizes the air pressure in the middle ear, and is the reason why a swallow, or a yawn (which causes the levators of the palate to contract), makes the ears pop and equalize, when going up in an elevator or an aeroplane, or when diving underwater. Failure to pull open the eustachian tube, leads to accumulation of fluid secretions in the middle ear, a condition termed glue ear.
In cleft babies, the muscle sling across the palate is incomplete, divided by the cleft; thus, they cannot pull on the eustachian tube and this predisposes to recurrent middle ear infections which, if left unchecked, leads ultimately to scarring of the delicate ossicular chain in the middle ear and hence, impaired hearing or even deafness.
TREATMENT OF CLEFT LIP AND PALATE
Babies born with cleft palates will require intervention and assistance by a number of experts, over a number of years. In most centres, these various specialists are grouped together as a cleft team and such teams are usually associated with a university teaching hospital.
The diagnosis is usually made at birth, or shortly thereafter, although in some cases, it may be made by ultrasound examination, during the pregnancy. In the submucous cleft palate, the diagnosis may not be made until the child presents with speech problems, at primary school.
For those children presenting with a cleft palate, which is detected at birth, they will be referred in the first instance to a cleft feeding specialist. In some centres, this may be a speech and language therapist, in others, a nurse or occupational therapist. The background training of the individual is less important than the fact that they have professional experience with cleft palate children and their problems, and are fully conversant with the potential difficulties (and the solutions!) associated with feeding these infants.
Such a practitioner will often work together with a lactation specialist to help mother and baby establish a mutually satisfying feeding arrangement. The adequacy of nutritional intake is monitored by regular checks of the infant's weight gain and growth.
Within a few days of birth, the cleft palate infant will be referred to a Plastic Surgeon who has a special interest in, and appropriate super-specialist training in the management and repair of such clefts.
The first consultation will usually take place in the maternity home, but circumstances will sometimes demand that the surgeon and the family first meet in the clinic or doctor's office. At this time, the baby will be examined (although the paediatrician will have done this thoroughly by now, since the presence of a cleft palate is a warning flag for the medical staff to look for other, albeit rare, associated anomalies: There are over 150 known syndromes which include a cleft palate as part of their constellation of abnormalities).
The cleft of the lip and/or palate will be categorised as to it's type and extent of clefting, since this will materially affect the choice of repair technique, and the ease of performing the repair. During this first examination, the family will have plenty of opportunity to ask questions and the surgeon will make an effort to lay out the long term treatment philosophy of his or her centre.
It must be realized that different centres practice differently. In most centres, the lip is repaired at between 3 and 6 months of age, and the palate is repaired at anywhere between 3 and 14 months of age.
Some centres repair the cleft lip in the first week of life, principally to relieve parental distress, and in other centres, the palatal repair may be staged, with final closure not occurring for years. Each centre differs and within one centre, the management of different patients may differ; your surgeon should be able to explain exactly what will be done for your child and when it will be done. He or she will also be able to explain the rationale behind the particular schedule chosen.
In my own practice, I close the lip at 3 months of age, rather than at birth, because this allows the child to grow somewhat and a slightly larger lip makes the repair that much more precise and predictable. I like to have the palate closed by a year of age because this is usually when a baby starts babbling, and the best prospects for normal development of speech are achieved if the infant begins speaking with a structurally "normal" palate.
In certain circumstances I will close the lip and palate at a single operation at around six months of age, but more commonly they are repaired separately, at 3 and at about 10 months of age respectively. In children with an isolated cleft palate and an intact lip, the palate is repaired at 10 months. At the same time that the palate is repaired, the ear drums are examined by an Otorhinolaryngologist (ENT or ORL surgeon) and if there is any evidence of glue ear, grommets are placed to drain and aerate the middle ear. This occurs in about 95% of cases.
In cases of complete clefts of the hard and soft palates, the expertise of an Orthodontist with a special interest in clefts is called on to maintain and improve the relationship of the bones on either side of the cleft (the greater and lesser segments of the alveolar arch). Such pre-surgical orthopaedics, is achieved by means of a palatal plate, moulds or, in some centres, a pin-retained device which is surgically attached to the bone. The aim of these interventions is to get the bones as well aligned as possible before the surgical repair of the soft tissues; not only does this make the surgery technically easier, but it is believed to favour a better long-term outcome.
PRIMARY TECHNIQUES OF CLEFT LIP REPAIR
Clefts of the lip may be described as complete or incomplete, and may be unilateral or bilateral. The incomplete cleft, which, as the name suggests, does not split the lip completely, ranges from an almost invisible notch in the lip to a virtually complete cleft, with only a small tissue bridge between the cleft and non-cleft sides. The small tissue bridges in such cases are sometimes called Simonarts bands.
Most obviously, clefts of the lip may be unilateral or bilateral. Very rarely is a cleft of the lip in the midline. They are almost always along an embryonic fusion plane, where the process of the midface meets and fuses with the lateral nasal processes on each side, to form the upper lip.
Incomplete clefts are also described as a "forme fruste" of a cleft lip. It must by now be apparent that a specific cleft may be described as falling at one point along a wide continuum, or spectrum of possible cleft deformities. The individual incomplete cleft will be assessed on its merits and then addressed appropriately.
It is generally true to say that despite the fact that the more minor the cleft, the less deficit of tissue there will be, most will still require a complete surgical repair with takedown and repair of the whole lip. If a Simonart's band is present, this is usually discarded.
Straight Line Repairs and the Millard Rotation Advancement
Complete clefts and most incomplete clefts are repaired using one of a few well established surgical techniques. Generally, these may be grouped into the straight-line and Z-plasty repairs, such as those described by Randall and Tennison, or the Davies Z-plasty, or the Millard rotation-advancement technique. The latter is probably the most widely employed method of repairing the unilateral cleft lip and should deliver excellent results in the hands of most surgeons.
The details of these operations are highly technical and their full appreciation demands a sophisticated understanding of the three dimensional geometry and anatomy of the structures involved in the cleft. For this reason, no attempt will be made here to explain the details of the procedures; however, your surgeon should be able to explain the surgical approach to you.
The bilateral cleft presents with a different set of problems; the first major difficulty is that of trying to get the 3 segments of the arch - the premaxilla in the centre and the two lateral segments of the alveolus, aligned. This is where pre-surgical orthopaedics is so important. The orthodontist will use a plate, or a bonnet with a strap or some other device, to align these segments before the surgeon joins the soft tissues.
The actual surgical repair of the lip may be by any one of several techniques and again, there are several described; in Australasia, the technique described by Manchester is still popular, while my personal preference is for the method of John Mulliken. Again, your surgeon should be able to give you an account of which technique he or she favours, and why.
It is worth mentioning that in the unusually wide cleft, or where there may be a poor response to presurgical orthodontics, a lip adhesion may be the first surgical procedure performed. This operation seeks to unite, temporarily, the soft tissue across the cleft, and utilize the elasticity of the muscle, to help mould the bony segments into a more favourable relationship, prior to performing the definitive surgical repair.
In principle, the key points to all the cleft lip repairs are that little or nothing is thrown away; appearances notwithstanding, there is almost always enough tissue present to reconstruct a functional and even an aesthetically pleasing lip.
PRIMARY TECHNIQUES OF CLEFT PALATE REPAIR
There are numerous methods of repairing a cleft palate and the actual method used will depend on the specific case at hand. In most instances however, the choice of technique will come down to the extent of the cleft, the pertinent anatomical features of the patient, and the individual surgeon's preference. Your surgeon will be able to explain to you which technique he or she favours and why it would be appropriate for your child.
For each technique, there will be certain things that are done differently, but for all forms of repair, there are some things in common. All forms of cleft lip and palate repair require a general anaesthetic, since the child has to be able to lie still for a prolonged period of time, (usually about 1 to 4 hours, depending on the complexity of the problem). During this period, the baby will be under the care of an anaesthetist who has had super-specialist training, specifically in the management of such young infants.
All lip and palate repairs are conducted with the patient lying supine, the airway secured and protected by an endotracheal tube, the head extended over a bolster, and the surgeon sitting at the head of the table.
The palate and lip to be repaired are usually infiltrated with local anaesthetics, usually containing adrenaline or epinephrine; this serves to reduce pain and inhibit bleeding, thus making the surgery easier and faster. Postoperatively, great care is taken to protect the airway and some centres go so far as to place all cleft palate repair babies in an Intensive Care Unit (ICU) overnight.
Incomplete Clefts (Soft Palate Clefts)
If one had to have a cleft palate, this would be the one to have. If the soft palate only, were involved, the most likely method of repair would be by separating each side of the palate into its three component layers - nasal and oral mucosa, and muscle, and then suturing each of these separately, to provide a watertight, 3-layered closure. This is the so-called direct repair.
Usually, it will incorporate an intravelar veloplasty, which involves freeing the muscles from their erroneous insertion into the posterior edge of the hard palate and suturing them to each other, across the midline, so as to restore the muscle sling which will enable the palate to be pulled up and back with muscle contraction.
An elegant approach to the repair of the soft palate cleft is to use the technique described by Leonard Furlow - the double reversing z-plasty. This raises two z-plasties, one in the palatal mucosa and one in the nasal mucosa. The muscle on one side is raised with the oral mucosa and on the other with the nasal layer. When the z-plasty flaps are switched, the two muscle bearing layers are brought across the midline, and the z-plasties help to lengthen the palate.
Complete Clefts (Clefts of the Soft and Hard Palates)
This type of palatal cleft becomes significantly harder to repair as the bone of the hard palate is divided into lateral shelves. Seen from below, the inferior or lower edge of the vomer, which normally forms a T-junction with the bony palate, is on show in the cleft. In order to repair such a defect, several techniques have been evolved over the last century.
Some involve the splitting of the mucosa over the vomer and turning this back to meet the mucosal covering, freed from the upper, or nasal surface of the bony palatal shelves Suturing these together forms the nasal layer.
Next, the muscle must be freed from the posterior palatal shelf edge. In most cases this is raised together with the overlying oral mucosa, either freeing completely, the front end of the flap from the bone of the palate, and pushing the flaps backwards, as they are sewn together in the midline - a so called pushback repair, as in the method of Veau and of Wardill and Kilner.
Alternatively, the anterior edge of the palatal flap can be left in place, and the flap raised on two pedicles, posterior and anterior, the so called von Langenbeck technique. Both these techniques utilize a releasing incision, placed postero-laterally around the posterior edge of the alveolus, which frees the soft tissue palatal flap, allowing it to be transposed toward the midline; the secondary defect heals rapidly and does not require closure.
Several other variations on the theme are possible, and your surgeon should be able to advise you, together with illustrative drawings, of precisely what the proposed surgery will entail for your baby.
Cleft Lip Nasal Deformity
The typical cleft, be it uni or bilateral, has a characteristic nasal deformity:
In the unilateral case, the nasal defect is characterised by slumping of the ipsilateral nasal cartilages, such that the nostril orifice is broad and horizontally wide. In addition, the nasal tip is broad and the septum buckled.
In the bilateral defect, the nose is symmetrical, but there is bilateral lack of support beneath the lateral ala, due to bony hypoplasia at the margins of the pyriform apertures (the bony margin of the nostrils, in the maxilla). The same hypoplasia is seen on one side only, in the unilateral case. Besides this, the lower lateral cartilages are deficient and the nasal tip broad and flat, with a shortened columella.
The spectrum of characteristic deformities will need to be addressed in order to make the nose more normal looking; some surgeons include nasal surgery as a component of their primary surgical endeavours, as was advocated by the Australian, Harold McCombe; others prefer to allow the nose to develop for some years and then perform a rhinoplasty. Paul Black, a noted American cleft surgeon, insisted that rhinoplasty not be attempted before 7 years of age, but most surgeons today favour earlier intervention, usually around the time of lip repair.
COMPLICATIONS OF SURGERY
These may be thought of as acute and delayed. In the cleft lip repair, the only serious complications are those of infection and disruption of a suture line, but provided due care is taken with sterile technique, antibiotic prophylaxis and splintage to prevent the child scratching and picking at the healing incisions, these should be very rare events.
In regard to cleft palate repairs, however, there are more functional complications possible: In the acute period, the first 24 to 48 hours, the most likely complications to be encountered are those of bleeding and swelling, leading to potential threats to the airway. Sometimes, if the surgeon is especially concerned, he may pack the releasing incisions or place a naso-pharyngeal airway until the patient has stabilised.
The most common delayed complication is fistula formation, which may occur in up to 25% of platoplasties. A fistula is simply an unintentional connection, or hole, between the nose and the mouth. Typically, these occur at the front of the hard palate, or at the junction of the hard and soft palate where the tissues have been closed under the greatest tension; they vary in size from substantial to pinhole. They are apt to be recognized by fluid and or food regurgitation into the nose and possibly by speech defects. Generally, they are easily repaired by a secondary procedure.
Another possible complication of the palatal repair, although this is somewhat controversial, is the development of restrictive scarring. One school of thought holds that it is the scarring attendant upon the necessary dissection involved in repairing a cleft palate, that is responsible for the maxillary hypoplasia, or flattened midface, which is so typical of the severe cleft palate patient. This is the argument advanced by those who propose delaying the repair of the bony cleft palate for several years. On the other hand, this maxillary retrusion may simply reflect the inherent hypoplasia and diminished capacity for growth in the cleft maxilla.
ALVEOLAR BONE GRAFTING
After the primary cleft palate repair, the patient enters a fairly quiescent phase, during which not a great deal needs to be done. There will be regular follow-up visits to the clinic and the patient will be seen by various members of the team, including the plastic surgeon, the ENT surgeon, the speech and language therapist and the orthodontist.
During the stage of mixed dentition, roughly around age 9 years, when the orthodontist feels that the time is right, the alveolar cleft will need to be bone-grafted. To do this, the cleft soft tissue is separated over the alveolus, and the gap between the bone of the two alveolar segments, packed with cancellous bone taken from the hip (iliac crest), cranium (skull) or tibia (shin). This both unites the two alveolar segments and allows the orthodontist to move the teeth into the space which has now been filled with bone.
One other operative intervention may be required. On occasion, despite an apparently successful palatal repair, the patient may fail to achieve completely competent closure of the velum against the pharynx. This presents as hypernasal speech and is known as velopharyngeal incompetence or VPI.
While many such children may respond well to speech therapy, most require surgical intervention. Ideally, they need to be investigated by means of nasendoscopy and/or cineradiography of the palatal movement.
Nasendoscopy, which involves passing an endoscope up the nose, to look at the palatal movement from above, is unpleasant, but not painful. The nasal mucosa can be numbed with a local anaesthetic such as xylocaine spray (perhaps the most unpleasant part of the procedure!) and once the endoscope has been positioned, the patient is asked to recite several key phrases, while the endoscopic view, plus soundtrack is recorded on videotape for later playback.
It is said that the likelihood of a successful investigation is directly proportional to the patient's age: i.e. 30 % in a 3 year old and 80% in an 8 year old.
Having confirmed the diagnosis, the operation that is performed is either a pharyngeal flap, or a sphincter pharyngoplasty. Both are performed in hospital, under general anaesthetic and each takes 2 to 3 hours to perform. Most patients require a few days in hospital to recover. Your surgeon will be able to tell you which procedure is best suited to your child and why.
ORTHOGNATHIC SURGERY AND DEFINITIVE RHINOPLASTY
Many cleft patients will have maxillary hypoplasia and deficiency; in these patients, the maxilla fails to grow forward as far as it ought; this may be due to the inherently reduced growth potential of the tissue, as a result of the cleft, but it may also be due to the planes of restrictive scar created by surgical repairs of the lip and the palate. In many cases, in order to bring the teeth and jaws into a proper occlusal relationship, the Orthodontist will recommend orthognathic surgery (from gnathos, Greek for jaw).
In essence, this involves performing an operation to release the top jaw or maxilla from the skull and matching it to the lower jaw or mandible, which may also be surgically cut so as to allow it to move freely. The two jaws are then aligned, according to a precise surgical plan, and then rigidly fixed with titanium plates and screws, or wires.
It is uncommon nowadays for a patient to have to have their jaws wired together for any length of time, as used to be done in times past. This surgery is usually carried out when the patient is at or near skeletal maturity, which is usually 15 to 17 in girls and about 19 in boys. Doing it any earlier might necessitate that the operation be done again, if there was still significant facial growth after surgery. This surgery is usually carried out by an Oral Surgeon, or Plastic Surgeon.
The final procedure that the patient undergoes, is usually a definitive rhinoplasty once the orthognathic surgery has established the final bony platform on which the nose will rest. This will include any minor lip scar revisions that may still be an issue at this juncture.