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Incidence uncertain ~ 1-5:100,000 live births. Varies with definitions and awareness.
Range 10 34 per 1000 common clefts (Recall cleft lip ~ 1/1000 live Caucasian births)
Heterogeneous group aetiologically and pathogenetically
Limited influence of genetics (exception is Treacher Collins syndrome if considered as atypical cleft)
may occur unilaterally or bilaterally, and multiple Tessier clefts may be seen in a single patient.
Tissues around the cleft margins are hypopolastic
Aetiology
1. Radiation
a. Large doses of radiation have been associated with microcephaly.
2. Infections
a. The children of mothers with influenza, toxoplasmosis, rubella, or cytomegalovirus
infections exhibit increased frequencies of facial clefts.
3. Maternal disease.
a. Mothers of children with cleft lips and palates have been noted to exhibit a higher-than-
normal incidence of phenylketonuria, and the FAVS spectrum has been observed with
unusual frequency among infants with diabetic mothers.
4. Drugs
a. Vitamin deficiencies are associated with increased incidences of cleft lips and palates, which
may be reduced with vitamin supplementation diets for the mothers.
b. Vitamin A, its derivatives, and related compounds such as isotretinoin have been implicated
in the development of facial clefting and hemifacial microsomia.
c. anticonvulsants
d. Maternal smoking has been demonstrated to be associated with craniosynostosis
Morphogenesis
grooves between these facial prominences usually disappear by day 46 or 47 of gestation, as the
processes meet their equivalents from the contralateral side and fuse in the midline.
Any persisting groove between meeting or adjoining processes results in a congenital facial cleft.
Two main theories:
1. Fusion theory (Dursy (1869) and His (1892))
a. Clefts form due to failure of fusion of normally merging facial processes.
2. mesodermal penetration theory (Veau, Pohlmann)
a. Contends that free ends of processes do not exist but that the fetal face consists of a continuous
bilaminar ectodermal membrane with processes marking epithelial seams.
b. Into this bilaminar structure migrates mesenchyme to smooth out the seams followed by merger
of facial processes.
c. Clefting is due to failure of mesenchymal migration.
Other theories to explain rarer clefts
1. Neural crest migration (Johnston & Weston)
a. propose that the primary defect is in neural crest cell migration.
b. Incomplete/insufficient migration or abnormal differentiation of neural crest cells.
c. Observations based on non-mammalian vertebrate embryos.
2. Failure of differentiation (Vermiej-Keers et al;)
a. Propose that neural crest cells do not migrate but exist as developmental rests
b. Facial clefts develop due to failure of differentiation of neurectoderm and mesenchyme
c. shown not to be the case as cell labeling clearly shows migration
3. Deficiencies of the anterior neural plate
a. early in development when the brain and facial form are intimately connected leads to a series
of malformations termed holoprosencephaly. The result is failure of separation of cerebral
hemispheres and associated facial dysmorphisms.
4. Arrest of frontonasal process
a. Occurs in low embryonic position with failure of forward growth of the nasal septum results
in orbital hypertelorism
Classification
Committee on Nomenclature and Classification of Craniofacial Anomalies of the
American Cleft Palate Association
Type
I Clefts (Tessier classification)
II Synostoses
III Atrophy/hypoplasia
IV Neoplasia/hyperplasia
V Unclassified
Holoprosencephaly
Failure of cleavage of prosencephalon (primitive forebrain) sagittally into cerebral hemispheres, axially
into telencephalon and diencephalon or coronally into olfactory and optic bulbs.
1 in 16,000 live births, 1 in 200 spontaneous abortions
etiologically heterogeneous entity there are teratogenic causes, maternal diabetes being the most
significant, giving a 200-fold increased risk
Facial morphology represents a hypoplastic Tessier no. 14 cleft in association with a tissue deficiency or
a tissue excess
Graded in severity :
1. Alobar HPE, the most severe, in which there is a single ventricle and no separation of the cerebral
hemispheres
2. Semilobar HPE, in which the left and right frontal and parietal lobes are fused and the
interhemispheric fissure is only present posteriorly
3. Lobar HPE, the mildest, in which most of the right and left cerebral hemispheres and lateral
ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused,
especially ventrally
Degree of facial disorganisation usually reflects an equally severe anomaly of the brain.
Cyclopia: single eye or partially divided eye in single orbit with a proboscis
above the eye
Cyclopia without proboscis
Anophthalmia or microophthalmia
Ocular hypotelorism
Flat nose
Anophthalmia/microophthalmia
Ocular hypotelorism
Lobar HPE
Flat nose
Types I to III usually have an alobar brain and rarely survive twelve months and are not candidates for
reconstruction.
Types IV and V may be candidates for reconstruction depending on their brain morphology.
Since there are a spectrum of midfacial hypoplasia and false median clefts with relatively normal brain
morphology, types IV and V may be further classified based on prognostic and functional criteria. Here,
type IV represents alobar or semilobar holoprosencephaly, type V lobar holoprosencephaly and type VI is
added to include the facial dysmorphic features with normal brain development. Here, types V and Vi
may be candidates for reconstruction.
(left) frontonasal malformation in a 4-year-old girl. Note the symmetrical second-degree interorbital
hypertelorism, prominent widow's peak, and broad bifid nasal tip. She had resection of a nasal dermoid that
extended intracranially.( center) frontonasal malformation (minor) with bipartate nasal tip and second-degree
interorbital hypertelorism.( right) frontonasal malformation (major) in a 3-month-old girl. Note the
symmetrical third-degree orbital hypertelorism, disjoined nares, median cleft lip/palate, and basal
encephalocele.
Atypical Clefts
Van der Meulen (1983) Based classification on work of Vermeij-Keers interpreting underlying
pathology as arrest of development occurring either before fusion of facial processes or after, during
differentiation phase. Early defects result in true or primary clefts along embryological processes, whilst
late defects, due to errors in differentiation and fusion of ossification centres, would result in pseudoclefts
or secondary clefts.
Proposed the term dysplasia was more appropriate than cleft reflecting varying severity of involvement.
Tessier Classification
Published in 1976. Remains the most useful and widely accepted classification scheme.
Classifies clefts clinically based on architecture rather than descriptions of structures involved.
Ignores underlying aetiology and pathology but more valuable to reconstructive surgeon.
Differentiates 15 distinct locations of clefts through fault lines crossing the mouth, nose, orbit and
cranium. These are numbered 0 14 in a counterclockwise fashion around the orbital along constant
planes. The orbit is the point of reference, as it comprises part of the face and cranium.
Cleft planes divide cranium (cephalad /northbound from orbit) or face (caudal /southbound from orbit).
Cranial and facial clefts can coexist and if so, their axes usually follow the same direction. These are
numbered by their component parts, which usually add up to 14 (0-14, 1-13, 2-12 etc).
Combinations of purely facial clefts also occur (eg Treacher Collins syndrome combination 6, 7, 8).
Purely topographical description without reference to severity. Therefore mild and severe clefts along
same plane are classified together.
Value of Tessier scheme is that it directs clinician to search for malformations along entire axis.
General rules:
- Clefts 0,1,2 course medial to orbit not involving it
- Cleft 1,2,3 share origin from the lateral margin of cupids bow and are therefore distinguished
from common cleft lip by their cephalad extensions.
- Upper lip cleft 4 begins lateral to philtum whilst cleft 5 begins medial to commissure. Neither
involves piriform aperture or nasal structures.
- Clefts 3 and 4 enter palpebral fissure medial to inferior punctum of the canalicular system and
therefore disrupt medial canthal anatomy, whilst 5 is lateral to punctum.
- Cleft 4 always courses medial to inferior orbital foramen whilst cleft 5 is lateral.
- Cleft 6 has no labial component and is purely orbital, whilst cleft 7 has no orbital component and
is a transverse labial cleft originating at the oral commisure.
- Cleft 8 originates as a transverse cleft from the lateral commisure of the palpabral fissure.
- Clefts become cranial beginning with cleft 9.
- Clefts 9,10,11 disrupt the upper eyelid and eyebrow, whilst 10 and 11 can cause orbital
dystopia.
- Clefts 12,13,14 course medial to the orbit resulting in hypertelorism
- Clefts medial to inferior orbital foramen are more frequent and tend to disrupt soft tissues than
bone, whilst those lateral to the foramen are typically more disruptive to bone. Exceptions to this
rule are the number 7 cleft which is more disruptive to soft tissues and the number 3 cleft which
can be more disruptive to bone.
- Most common cleft types are median clefts 0-14 whilst the rarest are oblique clefts 4,5,8 and 9.
- Paramedian clefts are encountered more often than the oblique clefts.
- Craniofacial clefts may occur combined with other clefts and may be bilateral. Bilateral clefts
are frequently symmetrical in their axis but not necessarily in severity.
Thus can be grouped into 4
1. Oral-nasal clefts = 0,1,2,3
2. Oral-ocular clefts = 4,5,6
3. Lateral facial clefts = 7,8,9
4. Cranial clefts = 10-14
Specific Tessier Clefts
Number 0 Cleft: Midline face, along with cranial extension number 14 cleft forms median craniofacial
dysrhaphia.
Median cleft face dysmorphism (hyperplasia)
Soft tissues: Upper lip varies from notch to true midline cleft. The frenulum is often
duplicated and there is diastema between central incisors. Nose is frequently bifid,
columella and dorsum are wide +/- median furrow.
Skeleton: Bony cleft begins in alveolus between central incisors with angulation of
dentoalveolar arch upwards into cleft. May continue posteriorly into secondary palate.
Superiorly, the anterior nasal spine and septum may be thickened or duplicated. Upper
and lower lateral cartilages are displaced laterally and may be hypoplastic or distorted.
Nasal bones are wide and flattened. Anterior ethmoid cells are increased in number
and enlarged resulting in hyperteleorbitism.
Holoprosencephaly (hypoplasia)
Soft tissues: False median cleft lip with partial or total absence of prolabium. Nose
may be rudimentary, absent or a proboscis.
Bone: Partial or complete absence of premaxilla +/- cleft of secondary palate. Septum
is vestigial if present with absent or hypoplastic nasal vault. Superiorly, cleft into
ethmoids results in hypoteleorbitism.
Number 1 Cleft: Soft tissues: Cupids bow to alar dome and onto nasal dorsum passing medial to canthus
Skeleton: Through alveolus between central and lateral incisors, base of piriform
aperture lateral to anterior nasal spine. Maxillary involvement may result in cleft of
hard and soft palate. Superiorly, fault continues through nasal bone, medial to junction
with maxilla and may involve ethmoid labyrinth to cause hyperteleorbitism. Cranial
involvement as number 13 cleft is termed paramedian craniofacial cleft.
Number 2 Cleft: Soft tissues: Cupids bow, through middle third of nostril rim. Hypoplastic ala with
flattened lateral nose, extending superiorly as a groove to an asymmetrically
broadened nasal root with lateral displacement of inner canthus. Lacrimal system,
palpebral fissure and eyebrows are uninvolved.
Skeleton: Alveolus of lateral incisor to lateral part of base of piriform aperture. Spares
lateral nasal wall, coursing supero-obliquely through junction of nose with frontal
process of maxilla without involving orbital rim, medial canthus or palpebral fissure.
May extend into lateral ethmoid labyrinth to cause hyperteleorbitism.
Number 3 Cleft: Soft tissues: As with number 2 cleft, begins with common cleft lip but continues
cephalad passing through alar-cheek jn continuing along lateral nasal margin to
involve medial aspect of lower eyelid just medial to lower punctum. Therefore
disrupts lower cannicular system and hence nasolacrimal drainage with resultant
recurrent infections. Medial canthus displaced inferiorly with hypoplastic medial
canthal ligament. Significant soft tissue deficiency in vertical dimension between alar
base and lower lid. Ocular globe may be normal but dystopic or micropthalmic. May
involve upper eyelid and brow as it continues cephalad as number 11 cleft.
Skeleton: Alveolus between lateral incisor and canine, through lateral border of
piriform aperture and medial wall of maxillary sinus. Continues superiorly to
involve frontal process of maxilla to the lacrimal groove, involving medial orbital floor
and rim. Can be extensive skeletal disruption with mouth, nose, maxillary sinus and
orbit in continuity. Therefore maxilla is hypoplastic in all dimensions.
Number 4 Cleft: Soft tissues: Begins midway between philtral column and commissure, continues
lateral to ala, onto cheek and ends on lower eyelid medial to inferior punctum.
Inferior canaliculus is involved but lacrimal sac and nasolacrimal duct is normal.
Medial canthal tendon unaffected. Severe soft tissue deficiency with margins of cleft
lip and normal ala drawn up into coloboma of lower lid. Orbital dystopia and
micropthalmia may occur. Continues cephalad as number 10 cleft to involve mid-
upper lid and brow.
Skeleton: Begins between lateral incisor and canine courses lateral to piriform
aperture through anterior wall of maxillary sinus medial to inferior orbital foramen to
end at medial orbital rim and floor. The orbit typically has a defect in the medial floor
and inferior rim. In its complete form, orbital cavity, maxillary sinus and oral cavity
are in continuity.
Number 5 Cleft: Soft tissues: Medial to oral commissure, passes obliquely upwards to junction between
lateral and middle thirds of lower eyelid. Continues as number 9 cleft to involve
lateral third of upper eyelid and brow.
Skeleton: Alveolus of premolar across anterior wall of maxilla lateral to inferior orbital
foramen to enter orbital rim and floor. Cavities in continuity as with number 4 cleft.
Number 6 Cleft: Soft tissues: Junction of middle and lateral thirds of lower eyelid passing inferiorly to
angle of mandible. Hearing deficit may be present though external ear usually normal.
Skeleton: Hypoplastic zygoma, cleft running through Z-M suture to orbital rim and
floor into inferior orbital fissure.
Number 7 Cleft: Soft tissues: Extends along transverse crease between oral commisure and auricular
tragus. Deficiencies vary from macrostomia or preauricular skin tags to severe
involvement of all intervening structures including tongue, soft palate, muscles of
mastication, parotid gland and duct and facial nerve.
Skeleton: Between zygomatic and temporal bones including zygomatic arch, coronoid
process, condyle and ramus of mandible, middle ear ossicles and auditory canal.
Vertical shortening of mandibular ramal height and the maxilla results in a canted
occlusal plane cephalad on the affected side.
Number 8 Cleft: Soft tissues: From lateral canthus, extends posteriorly to temporal region. May be a
depression or true cleft of lateral commissure. Usually strip of intervening skin
between upper and lower lids obliterating the depth of the conjunctival fornix. Cleft
prevents continuity of orbicularis muscle and fixation of lateral canthal tendon.
Skeleton: Z-F suture to greater wing of sphenoid bone.
Number 9 Cleft: Soft tissues: Lateral third of upper eyelid and eyebrow into temporal hairline
Skeleton: Superior-lateral portion of orbital roof through greater wing of sphenoid it
courses obliquely to involve frontal, temporal and parietal bones.
Number 10 Cleft: Soft tissues: Coloboma of middle third of upper eyelid and brow to fronto-temporal
hairline. May be associated ocular anomalies including coloboma of the iris.
Skeleton: Middle third of supraorbital rim, frontal bone and orbital roof lateral to
supraorbital foramen. May be associated with encephalocoele and secondary dystopia.
Number 11 Cleft: Soft tissues: Medial third of upper eyelid and brow to frontal hairline. May have
unilateral hyperteleorbitism if bony cleft through ethmoid sinus.
Skeleton: May pass medially into ethmoid labyrinth or more laterally to disrupt medial
third of orbital rim.
Number 12 Cleft: Soft tissues: May disrupt medial portion of eyebrow.
Skeleton: Passes between nasofrontal process of maxilla and frontal bone, into ethmoid
labyrinth resulting in hyperteleorbitism.
Number 13 Cleft: Soft tissues: Medial portion of eyebrow to omega-shaped distortion of the hairline.
Skeleton: Through nasal bone, ethmoid labyrinth and olfactory groove resulting in
widening of cribriform plate and hyperteleorbitism.
Number 14 Cleft: Soft tissues: As discussed with number 0 Cleft.
Skeleton: Varies from hypoplastic, (With hypoteleorbitism, holoprosencephaly, central
midline cranial base defect and confluent orbits with microcephaly and forebrain
abnormalities), to hyperplastic condition. This is characterised by hyperteleorbitism,
bifid cranium, broad crista galli(may be duplicated or absent) and an increased
distance between olfactory grooves. Cribriform plate normal width. Bony defects
may result in frontal, frontonasal or frontoethmoidal encephalocoeles.
Number 30 Cleft: Median cleft of the mandibular process. Caudal extension of 0-14 cleft.
Soft tissues: Central defect of lower lip with varying involvement of tongue and FOM.
Skeleton: Mandibular alveolus between central incisors extending into symphysis.
May continue caudally to involve lower branchial arches with involvement of hyoid
bone, thyroid cartilage, sternum and associated musculature.
Principles
1. address globe issues at early age
2. soft tissue reconstruction done at early age
a. cheek flaps
b. bony reconstruction may be required for globe positioning
3. delay final bony work until growth complete in conjunction with orthognathic surgery.
Severity of malformation and threat to vital structures dictates early intervention. Initial reconstruction
should begin as soon as infant is physiologically strong enough to withstand anaesthesia and
surgical insult.
If cleft deformity does not pose significant risk, delay for as long as is practical allows ongoing growth to
facilitate more accurate alignment and appropriate positioning of the key landmarks.
Initial operative procedures limited to soft tissue structures. Involves excision of all intervening
abnormal tissue within the region of the cleft to expose the normal structures, followed by accurate
alignment to reconstruct the anatomy. Note that even a minimal crease in the skin may signify
involvement of all underlying structures.
Tissue deficits and repairs across relaxed tension lines should utilise properly designed Z-plasties,
rotation and transposition flaps keeping in mind the soft tissue facial aesthetic units to camouflage scars
in natural folds and creases.
If regional tissue is insufficient, tissue expansion may be considered. This may also be of benefit before
skeletal restoration to provide an adequate vascularised soft tissue envelope for bone grafting. Tissue
expansion in later stages may allow for excision of grossly scarred regions from multiple previous
operations.
Soft tissue reconstruction can potentially mold the underlying distorted facial skeleton. Bony
reconstruction serves to reconstitute structural support as well as stabilise midface and maxillary
segments. Timing should be optimised to minimally disrupt facial growth and tooth eruption, whilst
allowing the child to return to mainstream society as early as possible through lessening the deformity.
Upper midface growth reaches 85% of adult size by age 5 whilst lower midface/mandible growth
determined by the eruption of dentition continues into adolescence. Consequently, skeletal reconstruction
of cranio-orbitozygomatic region should be relatively stable after age 5 whilst with some exceptions,
reconstruction of lower midface and mandible should be deferred to adolescence.
GALLERY
Tesseir 4 cleft (left) and right-sided Tessier no. 1/13, 2/12, and 3/11 clefts, encephalocele, and bilateral clefts
of lip and palate (right)
Early secondary reconstruction in a 6.5-year-old boy with right no. 4 and left no. 5 Tessier clefts. (Above, left)
Preoperative frontal view of S.K., an 18-month-old boy with unrepaired right no. 4 and left no. 5 complete
Tessier clefts. (Above, right) Frontal view at 6.5 years of age, after primary correction at 18 months of age
and bone grafting and soft-tissue revisions at 3 and 5 years of age, with persistent skeletal and soft-tissue
deficiencies in the bilateral malar and lower lid regions. (Below, left) Oblique and left lateral view with tissue
expanders fully inflated, before bone grafting to his bilateral malar regions, bilateral cheek advancement
flaps, right alveolar cleft bone grafting, rhinoplasty, and removal of expanders, at 6.5 years of age. (Below,
right) Frontal view at 10.5 years of age, 4 years postoperative without revision, with improved contour of his
bilateral lower lids, improved facial scar appearance, and acceptable malar projection.
Primary correction of left no. 1-13, 2-12, 3 Tessier clefts. (Above) Preoperative frontal view of P.S., a 13-
year-old boy from Bali, Indonesia, with left no. 1-13, 2-12, 3 Tessier clefts. (Left below) Mental view with
bilateral malar and forehead tissue expanders fully inflated, before removal of tissue expanders, reduction of
frontal encephalocoele and bone grafting, correction of orbital dystopia by means of facial bipartition, left
heminose reconstruction by means of forehead flap, left medial canthopexy, and advancement of bilateral
cheek flaps. (Right) Frontal view, at 5-year postoperative follow-up without revision, with acceptable
correction of his hypertelorism and orbital dystopia, and adequate nasal contour.