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Cleft Lip and Palate

Surgery V: Skin & Endocrine
Kabarak University
Facilitator: Kinyua M.D.|
Dept. of Clinical Medicine|

Definition
• An orofacial cleft is an abnormal opening secondary to
developmental failure in utero.
• Cleft lip with or without cleft palate can be unilateral or bilateral
• Occurs in a variety of combinations with variable expression in the
nose, lip, alveolus, and primary and secondary palates.
• Cleft lip with or without cleft palate is approximately twice as
common as isolated cleft palate
• The majority of cleft lip deformities are associated with a varying
degree of nasal deformity.

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Cont..
• Cleft lip with or without a cleft palate (CL/P) and cleft palate alone
(CP) differ with respect to;
oembryology
oEtiology
ocandidate genes
oassociated abnormalities
orecurrence risk

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Types of orofacial clefts

Classifications
• Veau classification
• Kernahan and Stark classification
• Kernahan classification
• Harkins classification
• Spina classification
• Tessier classification (universally utilized)

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Tessier classification
• Orofacial clefts can manifest as:
▪ Unilateral or bilateral
▪ Complete, incomplete, or microform (e.g., submucous cleft palate)
▪ Clefting of the lip with or without the palate, or of the palate in isolation
▪ Atypical craniofacial clefts.

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Harkins classification
• Cleft of primary palate
▪ Cleft lip
▪ Alveolar cleft
• Cleft of secondary palate
▪ Soft palate
▪ Hard palate
• Mandibular process clefts
• Naso-ocular clefts:
› involving the nose toward the medial canthal region

Cont..
• Oro-ocular clefts:
› extending from the oral commissure toward the palpebral fissure
• Oro-aural clefts:
› extending from the oral commissure toward the auricle.

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Kernahan classification
• Intra-oral view of a cleft lip and palate to the letter "Y,"
• Area affected by the cleft is marked on the "Y" and labelled from 1 to
9, each representing a different anatomic structure.
▪ Areas 1 and 4 represent the right and left side of the nasal floor, respectively.
▪ Areas 2 and 5 represent the right and left side of the lip, respectively.
▪ Areas 3 and 6 represent the right and left side of the paired alveolar segment,
respectively.
▪ Area 7 represents the primary palate.
▪ Areas 8 and 9 represent the secondary palate.

Kernahan striped "Y" cleft classification

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1: Right lip
2: Right alveolus
3: Right premaxilla
4: Left lip
5: Left alveolus
6: Left premaxilla
7: Hard palate
8: Soft palate
9: Submucous cleft

Epidemiology
• Most common congenital craniofacial anomaly.
• Overall incidence in Canada is 1 in 1300 live births.
• Two thirds of orofacial clefting involve the lip and/or palate;
• Nearly one third involve the palate alone.
• The majority of cleft lip and/or palate cases are unilateral (80%), and
are more common on the left side.
• Incidence has distinct differences between various ethnicities.
• Isolated cleft palate occurs more frequently in females, while cleft lip
and/or palate occurs more frequently in males.

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Cont..
• Prevalence report from the National Birth Defects Prevention
Network included the following estimates for 2007 to 2011
▪ Oral clefts (CL/P and CP): 14.5 per 10,000 live births (1 in 690 births)
▪ CL alone: 3.1 per 10,000 live births
▪ CL with CP: 5.6 per 10,000 live births
▪ CP alone: 5.9 per 10,000 live births
• The male to female ratio of CL/P is 2:1, while the male to female
ratio of CP is 1:2
• Maternal age ≥35 years has been associated with an increased risk for
oral clefts in offspring

Embryology
• Much of the facial tissue originates by cell migration from the
embryonic neural crest
• Governed by regulatory, structural, and positional genes.
• Complete closure of the lip;
› is accomplished by 35 days post-conception
› lateral nasal, median nasal, and maxillary mesodermal processes merge.
› Failure of closure of any one of the three normal sites of fusion can produce
unilateral, bilateral, or median lip clefting
› CL is; incomplete when only the upper lip is affected and complete when the
defect extends to the nose.

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Cont..
• Palatal fusion:
› completed by 56 to 58 days post-conception
› CP occurs when midline fusion of the palatal shelves fails to occur.
• Embryologic development of the upper lip and nose requires a
sequence of complex, genetically programmed events.
• It involves fusion of the 5 major facial prominences, occurring
between the 3rd and 8th week of gestation, with lip development
between the 3rd and 7th weeks, and palate development between
the 5th and 12th weeks

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Etiology
• The interaction between genetic predisposition and environmental
factors is an active area of research.
Genetic factors - Syndromic causes:
• Van der Woude syndrome (common)
› 2% of cases
› mutation in the interferon regulatory factor 6 (IRF6) gene
› characterized by cleft lip +/- cleft palate, lip pits, skin folds, syndactyly, and
oral adhesions
• Oral-facial-digital syndrome:
› X-linked condition characterized by mandibular hypoplasia and cleft palate.

Cont..
• Oculoauriculovertebral spectrum:
› this includes Goldenhar syndrome, an autosomal-dominant condition
› characterized by variable expression of hemifacial microsomia, ocular
dermoids, renal and vertebral anomalies, and auricular deformities
• Treacher-Collins syndrome:
› autosomal-dominant condition
› characterized by lower lid colobomas, downward-slanting palpebral fissures,
hypoplastic zygomatic arches, and low-set ears
• Stickler syndrome:
› autosomal-dominant condition associated with Pierre Robin sequence,
progressive myopia, hearing loss, and arthropathy.

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Cont..
• Pierre Robin sequence (or Robin sequence):
› classic triad of glossoptosis, microgenia, and U-shaped cleft palate caused by
intrauterine deformation of the palate by a prominent tongue (pushed
upward by a small jaw)
• Velocardiofacial syndrome:
• autosomal-dominant condition secondary to a 22q11.2 deletion
• characterized by variable expression of cardiac defects, broad nasal route and
skull base, and velopharyngeal dysmorphology.

Cont..
Genetic - Non-syndromic familial clefts:
• Monozygotic twins have 43% paired concordance, compared with 5%
in Dizygotic twins
• Parents without clefts have a 4% recurrence rate in future
pregnancies following the birth of 1 affected child
o risk for a third child after having 2 affected children rises from 4.4% to 9%
• A parent with cleft lip and/or palate has a 4% risk of having an
affected child.
• If further first-degree relatives are affected by a cleft palate, the risk
to the child rises to between 10% and 20%

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Cont..
Environmental factors:
• Teratogens;
▪ Anticonvulsant agents, such as phenytoin, sodium valproate, and topiramate
▪ Methotrexate
▪ Ondansetron - increased risk with first-trimester exposure
▪ Diazepam - mice studies
• Cigarette smoking;
› pathophysiology - not yet understood
› Increased risk in mothers who use tobacco during pregnancy or
periconceptionally (from 1 month before to 3 months after conception)

Cont..
• Maternal alcohol consumption:
› higher quantities of maternal alcohol consumption (>5 units per drinking
session) are associated with an increased incidence of orofacial clefts in
women with particular alcohol dehydrogenase gene variants
• Nutritional deficiencies:
▪ Folate deficiency
• Maternal obesity:
› has been associated with a small, but statistically significant, increase in
several congenital anomalies
• Amniotic band sequence

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Cont..
• Exposure to other agents;
› such as viral infection, radiation, and significant metabolic perturbation (eg,
poorly managed diabetes)

Pathophysiology
Cleft lip and/or palate:
• The maxillary, medial nasal, and lateral nasal prominences converge
through a complicated process of epithelial bridging, programmed cell
death, and subepithelial-mesenchymal penetration
› CL/P is secondary to defect of epithelial fusion or mesenchymal
growth, processes involving many possible genetic loci or intracellular
signalling pathways
› It results in interrupted fusion of the maxillary and median nasal
prominences

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Consecutive steps during secondary

palatogenesis

Schematic representation of consecutive steps

during secondary palatogenesis and the
molecules expressed in palatal mesenchyme
ECM and palatal epithelium.

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Cont..
Isolated unilateral cleft lip:
• the orbicularis oris (OO) is a ring of concentric muscle that constricts
and puckers the sphincter of the mouth.
• In isolated unilateral cleft lip, the OO fibers on the cleft side insert into
the nasal base, and the central (noncleft) OO fibers abnormally insert
into the nasal spine and septum.
• This causes the base of the nose to splay laterally when the infant
smiles.

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Presentation
• Possible presence; may be revealed by a routine prenatal ultrasound
scan at 18 weeks' gestation.
▪ 3-dimensional ultrasound showed high diagnostic accuracy
• A small proportion of infants with any type of cleft palate may present
with symptoms of severe airway obstruction requiring immediate
airway management.
• Other presentations include;
▪ symptoms of feeding difficulties, poor weight gain, hypernasal speech, or
nasal regurgitation.

Rendered three-dimensional image of

an early second trimester fetal face.

The image demonstrates a unilateral

complete cleft lip.

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Neonatal examination
• A thorough head and neck examination begins with assessing and
palpating the continuity of the upper lip and nostrils.
☼The various presentations of orofacial clefting (cleft lip, alveolus, or palate)
must be considered as the examination is being carried out.
• The upper gumline and hard palate are palpated for a notched or
cleft alveolus and/or palate.
▪ In a unilateral or bilateral cleft lip and palate, a complete defect of these
structures occurs most commonly under the nostril(s).
• A tongue depressor and light are used to view the soft palate back to
the uvula.
▪ Identification of a bifid or divided uvula may indicate a submucous cleft
palate.

Cont..
• The lower lips are inspected for nodular lip pits, and the soft tissues
of the cheeks are checked for atypical clefts or auricular remnants
found in oculo-auricular-vertebral spectrum (OAVS).
• Majority of cleft lip deformities are associated with a varying degree
of nasal deformity
• Neonate is also observed feeding at the breast or with a bottle for
detection of difficulty in latching on and creating adequate suction.
▪ Breastfeeding is possible with an isolated cleft lip.
▪ Neonates with a cleft palate often cannot produce the negative pressures
necessary on suction.

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Orofacial clefts Manifestations

Bilateral cleft lip with or without cleft palate:
• Presents with a complete bilateral cleft palate (usual).
• However, incomplete bilateral and even unilateral cleft palate is also
seen.
• There is no muscle in the prolabial skin due to its embryologic origin.
• Varying severity of clefting of the lip, alveolus, and palate are
observed
• Premaxilla protrudes anteriorly and is totally detached from each
maxilla.

Cont..
• Complete bilateral cleft lip nasal columella is short, contributing to
bilateral hooding of the ala and a wide, bulbous deprojected nasal
tip.

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Cont..
Unilateral cleft lip with or without cleft palate:
• In severely wide (>1 cm) complete unilateral cleft lip and palate,
there is complete separation of the lip musculature, alveolus, and
palate.
• Extends to more than a quarter of the labial height, and is measured
from the normal peak of the upper lip junction between the white
and red lip (Cupid's bow) to the bottom of the nostril (nasal sill).
• Base of the nose splays laterally when the infant smiles (isolated
unilateral CL)

Cont..
• Nose and lip on the noncleft side is characterized by;
▪ a short vertical white lip height
▪ deficient medial mucosa
▪ deficient columellar skin
▪ caudal septal deflection to the noncleft side
▪ a cleft lip nasal deformity with an asymmetric nasal tip (secondary to lower
lateral cartilage dysmorphology).

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Cont..
Isolated cleft palate:
• Degree of clefting can range from a complete isolated cleft palate to a
bifid uvula.
• Example of a deformational cleft palate is seen in;
▪ Pierre Robin sequence, which is characterized by the classic triad of
micrognathia, glossoptosis, and an isolated cleft palate

Cont..
Microform cleft lip:
• Characterized by dysmorphic features including;
▪ a minor nasal deformity
▪ philtral groove
▪ indented free mucosal margin
▪ notched vermilion-cutaneous junction with disruption extending to no more
than a quarter of the labial height, measured from the normal peak of the
upper lip junction between the white and red lip (Cupid's bow) to the bottom
of the nostril (nasal sill)

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Cont..
Isolated submucous cleft palate:
• Less overt palatal clefting, such as a submucous cleft palate, may be
missed on examination and may instead present with associated
symptoms.
• It is identified by a diastasis of the midline palatal musculature (zona
pellucida), a notched hard palate on palpation, and a bifid uvula.

Investigations
• Audiology assessment:
› All newborns with orofacial clefting receive a screening audiogram.
› If this is inconclusive, an auditory brain stem response (ABR) test to assess
for the presence of associated hearing loss is done by an audiologist.
› This is useful in the assessment of congenital sensorineural hearing loss.
› A complete audiologic evaluation is indicated in children whose screening
audiogram is abnormal
• Imaging:
› Vertebral spine x-rays and renal ultrasound are requested if hemifacial
microsomia is present.

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Cont..
• Chromosomal analysis:
› Fluorescence in-situ hybridization (FISH) is undertaken in order to detect
the presence of a genetic disorder;
› (e.g., velocardiofacial syndrome, which results from a microdeletion of
22q11.2, in infants with isolated cleft palate).

Specialist Evaluation
• If an orofacial cleft is diagnosed, the infant is evaluated for the
presence of associated syndromic features.
• Consultations with a geneticist and cleft surgeon allow evaluation of
the presence of cardiac defects, limb deformities, microgenia, or renal
malformation.
• Ophthalmologic consultation for identification of Stickler syndrome is
undertaken in infants with Pierre Robin sequence.

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Treatment
• Involves a multidisciplinary team providing comprehensive care of the
condition's functional and esthetic issues from birth into adulthood
• Make a timely diagnosis and referral
• Essential role in providing ongoing support to the child and to his or
her family
• Orofacial clefts are treated in discrete stages at specific ages
• Method of treatment is dependent on the deformity type
• Timing and nature of the surgery is individualized to the child's needs

Cont..
• Goal of primary repair:
▪ Cleft lip - restore normal function and anatomic features
▪ Cleft palate - achieve normal speech and swallow
• Secondary lip repair (lip revision);
▪ is often required
▪ can be performed at any age
▪ done to correct unsightly lip esthetics, such as excessive scarring,
asymmetric lip volume, or inadequate orbicularis oris continuity

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Cont..
• Specialized feeding;
▪ Postnatal hospitalization due to feeding difficulties
▪ EBF - monitor newborn weight gain and hydration status
▪ Nasal regurgitation - addressed with upright positioning of the infant
during breast and bottle feeding
▪ Feeding nurse specialists - teach parents how to optimize bottle feeding
▪ Infant should be burped during pauses
▪ Feed <30 minutes - to avoid fatigue.

Cont..
• Airway management;
▪ Initially treated noninvasively with prone positioning, nasopharyngeal
trumpet, and/or nasal CPAP
▪ Endotracheal intubation - micrognathia with a tongue-related obstruction
▪ Surgical management - tongue lip adhesion, mandibular distraction
osteogenesis (to move the base of tongue forward and open the airway),
and tracheostomy
▪ Laryngoscopy - pediatric otolaryngologist

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Cont..
• Intermediate rhinoplasty:
▪ Any time after definitive cleft lip repair and before definitive
septorhinoplasty
▪ Done in select cases
› E.g.; gross esthetic distortion or nostril stenosis with complete nasal
obstruction
▪ Nasal cartilages and soft tissue of the nostril can be treated with suturing
and repositioning.
▪ Delayed until skeletal maturity is reached

Cont..
• Speech and language therapy:
▪ Speech dysfunction should be analyzed with the input of a speech and
language pathologist.
▪ Instituted if velopharyngeal dysfunction (VPD) is present

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Cont..
• Secondary speech surgery:
▪ If hypernasal speech is not responsive to speech and language therapy,
surgery is warranted between the ages of 2 and 5 years, following a VPD
evaluation by the surgeon and speech pathologist.
▪ Options;
› superiorly based pharyngeal flap or dynamic pharyngoplasty
› palate-lengthening procedure (Furlow double-opposing Z-plasty)

Presurgical Procedures
• Presurgical lip taping, oral appliances, and presurgical alveolar
molding (PNAM):
› Wide (>1 cm) clefts in complete cleft lip and palate and isolated cleft lip
› Daily lip taping with steristrips and benzoin to enhance adherence (parent)
› PNAM is performed by the orthodontist and cleft surgeon - reduces the
width of the cleft alveolus and corresponding soft tissues
▪ initiated within the first 6 postnatal weeks to utilize the early plasticity of
the nasal cartilages
▪ Parental compliance is the most important factor in the successful
completion

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Taping of cleft lip

Thin acrylic plate with a nasal stent extending

from the vestibular surface.
An orthodontic wire makes it possible to adjust
the position of the molding bulb within the
nose

Above, plate used in unilateral clefts;

Below plate used to correct bilateral

deformities)

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Presurgical nasal molding is also

used in infants with clefts limited
to the lip and alveolus.

Patient with a bilateral

cleft at birth (above, left)

During presurgical
molding (below, left)

Just before lip repair at

the age of 6 months
(below, right)

3 years postoperatively
(above, right).

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PNAM device in a unilateral cleft showing nasal conformer wire in

the right nostril

Surgical Procedures
• Bilateral myringotomy and tympanostomy tube (T-tube) placement:
› Eustachian tube dysfunction
• Palatoplasty, long-lasting T-tube placement, and V-Y columellar
advancement:
› following bilateral myringotomy
› performed concurrently
› performed through creation of oral tissue flaps from the palate and rotation
of these palatal flaps to allow 3-layer closure (oral mucosa, soft palate
muscles, and nasal layer)
• Alveolar cleft bone grafting with preparatory orthodontics:
› grafting with iliac crest bone on eruption of the key permanent dentition

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Cont..
• Orthodontics and orthognathic surgery:
› for dentofacial malocclusion
› Done to obtain Angle Class I molar tooth relationships
› after the child has reached skeletal maturity
• Definitive septorhinoplasty:
› open approach used to correct the asymmetric upper and lower lateral
cartilages and realign the caudal septum that is deviated to the noncleft side.
› alar base excisions - for alar asymmetry correction
› nasal tip refining techniques - improve symmetry

Definitive Cleft Lip Repair

• Narrow clefts (<1 cm) receive definitive cleft lip repair without any
presurgical treatment
• Repair of the unilateral or bilateral cleft lip involves:
▪ approximation of the 2 sides of the cleft lip using precisely designed segments
of tissue
▪ creating exact proportions of the underlying oral mucosa, muscle, and lip
contours
• Most important feature of unilateral cleft lip repair is creating
symmetric lip contours by lengthening the medial lip segment using a
variety of techniques

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Cont..
• Timing and technique for repair of the bilateral cleft lip are related to
the extent of the deformity and surgeon preference.
▪ Numerous techniques have been described, including those of Millard,
Cutting, and Mulliken

Treatment Timing
Complete cleft lip and palate:
• First - Specialized feeding and Airway management
• 0 to 3 months of age;
▪ Presurgical lip taping, oral appliances or PNAM
• 3 to 7 months of age;
▪ Narrow (<1 cm) clefts receive definitive cleft lip repair
▪ Wide (>1 cm) clefts receive second-stage definitive cleft lip repair following
presurgical
▪ Bilateral myringotomy and T-tube (Shepard type) placement

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Cont..
• 10 to 14 months of age;
▪ Palatoplasty and long-lasting tympanostomy tube (T-tube) placement
▪ Audiometry
▪ V-Y columellar advancement
• 2 to 5 years of age;
▪ Speech and language therapy
▪ Secondary speech surgery
• 8 to 11 years of age;
▪ Alveolar cleft bone grafting with preparatory orthodontics
• At skeletal maturity;
▪ Orthodontics and orthognathic surgery for dentofacial malocclusion
▪ Definitive septorhinoplasty

Cont..
Isolated cleft palate:
• First - Specialized feeding and Airway management
• 3 to 6 months of age;
▪ Bilateral myringotomy and T-tube (Shepard type) placement
• 10 to 14 months of age;
▪ Palatoplasty and placement of longer-lasting T-tubes
• 2 to 5 years of age;
▪ Speech and language therapy
▪ Secondary speech surgery
• at skeletal maturity;
▪ Preparatory orthodontics +/- orthognathic surgery

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Cont..
Isolated cleft lip:
• First - Specialized feeding
• 0 to 3 months of age;
▪ Presurgical lip taping, oral appliances or PNAM (wide: >1 cm)
• 3 to 7 months of age;
▪ Definitive cleft lip repair
• 10 to 14 months of age;
▪ V-Y columellar advancement - infants with isolated bilateral cleft lip if primary
techniques are not done or prove inadequate

Cont..
• 8 to 11 years of age;
▪ Alveolar cleft bone grafting with preparatory orthodontics
▪ Only performed in bilateral isolated cleft lip
• At skeletal maturity;
▪ Orthodontics and orthognathic surgery for dentofacial malocclusion
▪ Definitive septorhinoplasty

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Complications
• Inadequate nursing techniques or pediatric care of feeding difficulties
may lead to poor weight gain and subsequent developmental delay
• Oronasal fistula
• Persistent speech impairment
• Surgical wound infection of the lip or palate
• Palatal fistula;
▪ occurs in approximately 10% to 20% of palatoplasties

Prevention
• Avoidance of teratogenic medications during pregnancy is mandatory.
▪ Seizure medications should be adjusted by a neurologist before conception,
to prevent teratogen exposure.
• Prenatal multivitamins (including folic acid supplementation)
• Antismoking counselling
• Advice on the importance of minimizing perinatal alcohol
consumption

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Thank You!

Comment/Questions?

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