Incidence
Clefts of the lip and/or palate are the commonest facial anomaly, occurring in approximately in 1:700 live births. Cleft lip (with or without cleft palate) and clefts of the palate are two distinct conditions. Clefts of the lip may occur in isolation or may be associated with clefts of the palate.
Clefts of the lip range from incomplete clefts to complete unilateral or bilateral clefts of the lip, alveolus, and palate. Cleft lips make up approximately 55% of referrals to a regional cleft lip and palate (CLP) service. These can be divided into:
Cleft lip (CL) alone (unilateral or bilateral): 23%.
Unilateral CLP (UCLP): 22%.
Bilateral CLP (BCLP): 10%.
In clefting of the lip and/or palate, there is racial variation in incidence. In Chinese children, clefting occurs in approximately 1 in 500 live births as against an incidence of approximately 1 in 2,000 African children. Approximately 15 to 30% of affected babies will have a cleft as part of a syndrome ( ▶ Table 27.1).
Syndrome/sequence | Incidence | Genetic transmission | Primary defect (if any) | ENT manifestation | Other important manifestations |
PR sequence | 1:8,500 | Micrognathia with relative macroglossia | Airway problems, feeding, obstructive sleep apnea, recurrent otitis media, conductive HL | Associated with other syndromes such as Stickler’s syndrome | |
Stickler’s syndrome | 1:7,500 | Autosomal dominant | Affecting collagen | Recurrent acute otitis media, possibly SN HL, flat nasal bridge and facies, bifid uvula, associated PR sequence (30%) | Myopia, retinal detachments, cataracts, bone abnormalities |
Velocardiofacial syndrome | 1:2,000 | Deletion of chromosome 22q11 | Abnormal pharyngeal arch development | Hypernasal speech, ear infection | Cardiac anomalies in 75%, parathyroid and immune deficiency |
Otopalatal digital syndrome | X-linked with expression in males | HL, cleft palate | Skeletal abnormalities, growth deficiency, Arnold–Chiari malformation | ||
Branchio-otorenal syndrome | 1:40,000 | Autosomal dominant | Deficiency in first and second branchial arches | Preauricular pits (80%) and external ear deformities; conductive (80%), SN, or mixed HL; branchial fistula; high arch/cleft palate | Renal dysplasia (60%) |
Treacher Collins’ syndrome | 1:50,000 | Autosomal dominant (treacle gene mapped on 5q32-q33.1) | First branchial arch abnormality | Low set ears, microtia, stapes abnormalities, deafness usually conductive, retrognathia | Coloboma of the eyes (70%), antimongoloid slant of eyes, craniofacial clefts |
Apert’s syndrome | 1:70,000 | Autosomal dominant | FGFR 2 gene abnormality | Midfacial hypoplasia, wide cochlear aqueduct, recurrent acute otitis media, conductive HL, cleft palate (30%) | Craniosynostosis with syndactyly of the hand and feet |
Abbreviations: ENT, ear, nose, and throat; HL, hearing loss; PR, Pierre Robin; SN, sensorineural. | |||||
27.3 Etiology
Both genetic and environmental factors are implicated. The environmental factors include the following:
Maternal use of anticonvulsants such as phenobarbital and phenytoin (tenfold increase).
Alcohol.
Cigarette smoking (twofold increase).
Corticosteroids (threefold increase).
Maternal folic acid deficiency may also contribute to clefting.
Clefting is also associated with chromosomal abnormalities—abnormalities of chromosomes 1, 2, 4, 6, 11, 14, 17, and 19 have been reported. Genetic and environmental interaction may increase the risk of clefting, for example, clefting risk is increased six times if the mother smokes and has a defect in chromosome 2; a defect on chromosome 4 increases the risk for mothers who drink alcohol or smoke cigarettes.
27.4 Diagnosis
Clefts may be diagnosed antenatally or at birth. The diagnosis may be delayed if the cleft is missed at the baby’s birth check.
27.4.1 Antenatal Diagnosis
It is now possible to diagnose clefting as early as 12 weeks of gestation by transvaginal ultrasound. Ultrasound is more accurate in diagnosing isolated CL and CLP (67–93%) but is limited in making the diagnosis of isolated cleft palate (7–22%). Detection rates improve markedly after 20 weeks of gestation.
Expectant mothers with a normal early ultrasound but with known risk factors for having a baby with a cleft should have a repeat scan at 20 weeks’ gestation.
Clefts may be classified ultrasonically into the following five types:
Type 1: isolated CL.
Type 2: UCLP.
Type 3: BCLP.
Type 4: median CL.
Type 5: clefts associated with amniotic banding of limb–body–wall complex.
The type of the cleft has been correlated with chromosomal abnormalities, structural anomalies, and fetal death. The more severe the cleft, the greater the risk of associated chromosomal abnormalities, structural anomalies, and fetal death.
Once the diagnosis has been made antenatally, the parents should immediately be referred to the local cleft team for appropriate counseling and support. Counseling will include feeding advice with information about breast-feeding, explanation of the surgical protocol, sharing of pre- and postoperative photographs, and details of local and national support groups.
27.4.2 Diagnosis and Counseling at Birth
In those cases where an antenatal diagnosis has not been made, the aim is to diagnose all clefts at birth and for parents to be contacted by a member of the local cleft team within 24 hours of delivery.
Specialist feeding and nursing advice should be provided at the time of birth. Soon after diagnosis, the designated cleft nurse specialist should be available to give further counseling and support to the family where necessary, including advice by telephone and home visits where needed.
Feeding advice is particularly important, as neonates with clefts of the palate are unable to either compress the breast against the palate or to develop the vacuum necessary for feeding.
They therefore need to be positioned in a semi-upright position and fed with special soft teats and soft “squeezy” bottles. It is possible to breast-feed neonates with isolated CLs. Mothers can be encouraged to express breast milk where breast-feeding is not possible.
The discussion about the surgery may include pre- and postoperative photographs. It is important to emphasize that the child’s appearance will change after lip surgery and that there will be a period of adjustment.
At the multidisciplinary clinic, the parents should also be given information about the following:
Dental development and the need for alveolar bone grafting where indicated.
The effect of clefting on speech and the possible need for speech therapy (10–15% of patients with palatal clefts) and speech surgery (in 5–20% of cases).
OME.
Parents should be made aware of the need to monitor hearing and should also be offered psychological support and genetic counseling. Genetic advice is especially important if a syndromic diagnosis is suspected.
27.5 Surgical Management of Cleft Lip and Palate
Clefts of the lip may result in both cosmetic and functional problems. Functional problems include impairment in the production of bilabial sounds (pa, pi) and impairment of maxillary growth secondary to scar constriction. Babies with isolated CL can usually feed normally although they may have difficulty creating an adequate lip seal.
The main anatomical defects in UCLP and in BCLP are shown in ▶ Table 27.2 and ▶ Table 27.3 and in ▶ Fig. 27.1 and ▶ Fig. 27.2.
Lip repair is usually carried out between 3 and 5 months in the United Kingdom.
The lip, nose, and hard palate are repaired at the first surgery at 3 to 5 months of age in healthy children.
The hard palate is repaired with an unlined, superiorly pedicled turnover flap from the vomer.
Apart from closure of the cleft lip and nose, repair should aim to give a functional and symmetrical lip of equal vertical height with a naturally appearing “cupid’s bow” with minimal scarring and a symmetrical and functional nose.
There is wide variation in the techniques, timing, and protocols for the repair of BCLP. To maintain symmetry, it is easier to repair both sides simultaneously.
Asynchronous bilateral lip repair (repairing one side and then the other side on a separate occasion) is practiced by some surgeons. It is important to establish primary muscle continuity (unless there is undue muscle tension at the time of primary repair, when the final muscle repair is deferred for 9 months to a year). The labial sulcus is reconstructed using mucosa from the prolabium and from the lateral lip elements. Some surgeons rely on muscle action to create a labial sulcus and do not formally reconstruct the sulcus.
Repair of the hard palate varies widely from complete closure with a vomer flap on both sides, to complete closure on one side and partial repair of the opposite side, to complete closure on one side only leaving the contralateral side open for repair a few months later on a separate occasion. Surgeons vary in their approach to hard palate repair as many fear that raising a full bilateral vomerine flap may compromise the blood supply to the premaxilla, but by raising the flap up to the prevomerine suture on one side, the blood supply to the premaxilla is maintained.
Fig. 27.1 Unilateral cleft lip and palate.
Fig. 27.2 Bilateral cleft lip and palate.
Lips | Discontinuity of the skin, muscle, and oral mucosa of the upper lip on cleft side Vertical soft-tissue deficiency on the medial aspect of the cleft Abnormal muscle insertions into the nasal spine and alar base |
Nose | Rotation of the septum, columella, and nasal spine away from the cleft Separation of the domes of the alar cartilages at the nasal tip and kinking of the lateral crus on the cleft side Dislocation of the lower and upper lateral cartilages on the cleft side Displacement of the alar base in all three planes of space, inferiorly or superiorly, depending on the cleft, posteriorly and laterally Displacement and flattening of the nasal bone on the cleft side |
Alveolus | An alveolar cleft in the region of the lateral incisor tooth on the cleft side Missing, malformed, or supernumerary teeth in the line of the cleft |
Palate | Defect in primary palate anterior to the incisive foramen Complete cleft of the hard palate Vomer inserted into the hard palate on the noncleft side Complete cleft of the soft palate Abnormal palatal muscle insertions: tensor veli palatini inserted into the back of the hard palate and palatopharyngeus inserted into the cleft of the soft palate and into the back of the hard palate Levator veli palatini inserted into the margin of the cleft in the soft palate Palatoglossus inserted into the cleft of the soft palate |
Lip | Discontinuity of the skin, muscle, and oral mucosa of the upper lip bilaterally Central segment consisting of prolabium and premaxilla with short columella No labial sulcus Lack of orbicularis oris continuity with fibers terminating in the lateral lip elements |
Nose | Lack of columella height Alar domes and middle crura are splayed, caudally rotated like a bucket handle, and subluxed from their normal anatomical position overlying the upper lateral cartilages |
Alveolus | Bilateral defect of alveolus and anterior palate Missing, malformed, or supernumerary teeth in the line of the cleft Collapse of lateral palatal segments behind premaxilla |
Palate | Bilateral cleft of the hard palate Vomer attached to premaxilla in the center line Complete cleft of the soft palate with similar muscle insertions to the soft palate in UCLP |
Abbreviation: UCLP, unilateral cleft lip and palate. | |
27.5.1 Palate Repair
Functional palatal repair is important for speech and may be important for Eustachian tube function.
The timing of palatal repair is controversial. A balance has to be struck between the beneficial effect of early palatal repair (before 1 year of age) on speech and delaying hard palate closure to improve growth.
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