Cleft Lip and Palate

CLEFT LIP AND PALATE

CLEFT LIP AND PALATE Page 1

`

Cleft lip and palate Dr.Arwa Sindi

PGY1, Jeddah

Moderated by:

Dr.Jad Kareem.J



TABLE OF CONTENTS:

Definitions .

Embryology .

Epidemiology

Anatomy.

Classification.

Etiology

Syndromes .



Definitions:

Primordium: is defined as an organ or tissue in its earliest recognizable stage of

development.

Premaxilla: the embryonic bone that later fuse with the maxilla to form the incisive

bone.

Microform: cleft lip deformity is mild incomplete characterized by 1) a band of

fibrous tissue extend from the vermilion to the nasal floor2) vermilion notch 3) some

degree of vertical lip shortness 4) ipsilateral alar deformity.

Submucous cleft palate: 3 diagnostic signs of submucous cleft palate, 1) bifid uvula

2) notching of the posterior border of the hard palate 3) and muscular separation of the

soft palate with an intact mucosal layer.the development of velopharyngeal

insufficiency is the only indication for surgery.



Theories of emberiogenesis:

Too many theories exist that describe how emberiologic failure results in craniofacial

cleft malformation.

Facial development largely occurs between the fourth and eighth weeks, and the face

has a clearly human appearance by age of 10 weeks

The branchial arches are largely responsible for the formation of the face, neck, nasal

cavities, mouth, larynx, and pharynx. The rst branchial arch contributes to the

maxillary and mandibular prominences and the anterior portion of the auricle

a. The fusion failure theory

Proposed by Dursy in 1869 and His in 1892

The free edges of facial processes unit in the central region and fuse,

hence the face gradually formed.

Dursy suggest that the upper lip is formed when finger like advancing

end of maxillary process unit. Disruption of this sequence results in

craniofacial cleft.

Organization of the facial primordia:

The face proper composed of 4 primordia:

1. The midline frontonasal or median nasal process which give rise to the

forehead ,midline of the nose, philtrum, premaxilla and primary palate

2. The bilateral maxillary process which contribute to the side of the face , the

upper lip, and the secondary palate

3. The lateral nasal process which give rise to the nares

4. The bilateral mandibular process which form the lower jaw and lip.



The facial primordial must come in contact and fuse to establish the normal facial

architecture. Fusion of the medial nasal, lateral nasal, and maxillary prominences

produces continuity between the nose, the upper lip, and the palate

A unilateral cleft lip results from failure of fusion of the medial nasal

prominence and maxillary prominence on one side



A bilateral cleft lip results from failure of fusion of the merged medial

nasal prominences with the maxillary prominence on either side. As a

result, the merged medial nasal prominences are often quite prominent,

as they are not restrained by attachment to the maxillary prominences

laterally. This is manifest at birth, as in a patient with a complete

bilateral cleft lip and anterior overprojection of the premaxilla and

prolabium.

b. The mesodermal penetration theory:

Warbrick and Stark and Ehrmann suggest that the the central facial

processes are composed of bilammelar sheets of ectoderm..

During development,the mesenchymal tissue migrates and penetrates

this double layered ectoderm.

If neuroectodermal migration and penetration do not occur, the

epithelial break down to form facial cleft.

c. Neuromeric theory:

Facial development described as the formation, migration, coalescence

and interaction of separate genetically based developmental field.

The face conceptualized as series of genetically defines developmental

fields each with specific cellular contents.

Each field develops from specific anatomic zone of emberyo called

neuromere, based on segmented model of the emberionic nervous

system.

Disruption of the neuromeric zone will result in abnormalities in

developmental field originating from that zone and will mechanically

disrupt normal interactions with adjacent fields, resulting in field

mismatch.

Carsten divides facial fields into 2 categories, A fields and B fields that

reflect the coding origin of the endoderm, mesoderm and neural crest

of which they are composed.

The A fieldsgives rise to the mesodermal structures anterior to

sphenoid and perfused by the terminal branches of the internal carotid

artery.

The fusion of 2 A filed complexes give rise to the anterior columella ,

philtrum, premaxilla, inferior turbinate, pyriform rimand the ethmoid

complexes.

B fields structures formed from the first and second pharyngeal arch.

Form the mandible and its associated structures and the anterior facial

skeleton including the maxilla.



Formation of the primary palate:

During week 4 of gestation the primitive craniofacial complex is formed.

The structure of the primary palate includes the lip, labial musculature,

nostril sill, and hard palate anterior to the incisive foramen, including the

adjacent alveolus and dentition.

Formation of the secondary palate:

The structures of the secondary palate include the hard palate posterior to

the incisive foramen, the soft palate "velum" the alveolus and associated

dentition posterior to the incisive foramen.

The process of formation of secondary palate is slightly delays in female

embryos that might explain the increase in the incidence of cleft palate in

female.

Epidemiology:

The overall incidence of oral clefts is estimated to be 1 in 750 live births.

Thus cleft is the second most common congenital defect after clubfoot.

The most common type of oral cleft is a bifid uvula.



A survey by Fraser and Calnan in 1961, found cleft lip and palate unilateral in

80% of patients and bilateral in 20%. Left sided cleft were twice as frequent

as right sided clefts.

Fogh-Andersen in 1942 also reported in his thesis that cleft lip and palate

occurs more frequently in males , whereas cleft palate occur more frequently

in females.males predominate in isolated cleft without palate.

In contrast, complete clefts of the secondary palate are twice common in

females as in males, and the incidence of isolated soft palate clefts is

approximately the same.

The mean incidence in Japan is approximately 2.1 in 1000 live birth; in china,

1.7 in 1000 live birth; in Western European whites, 1 in 1000; and in African-

Americans, and 0.41 in 10009.

Anatomy of the lips and perioral region:

Lips function is to provide competence to the oral cavity during mastication

and at rest.

The lips affect uttered sounds that facilitate spoken language

Superficial anatomy:

The upper lip extends from the base of the nose superiorly, to the nasolabial

folds laterally, and to the free edge of the vermilion border inferiorly

The lower lip extends from the superior free vermilion edge superiorly, to the

commissures laterally, and to the mandible inferiorly.

Around the circumferential vermilion-skin border, a fine line of pale skin

accentuates the color difference between the vermilion and normal skin"

white roll"

Along the upper vermilion-skin border, 2 paramedian elevations of the

vermilion form the Cupid bow.

Two raised vertical columns of tissue form a midline depression called the

philtrum.

Muscle groups:



The perioral musculature can be classified into 3 groups based on insertion.

Group I

o Orbicularis oris

o Buccinator

o Levator anguli oris Insert Into the modiolous

o Depressor anguli oris

o Zygomaticus major

o Risorius

Group II

o Levator labii superioris

o Levator labii superioris alaeque nasi Insert into the upper lip

o Zygomaticus minor

Group III

o Depressor labii inferioris

o Mentalis Insert into the lower lip

o Platysma

The modiolus is a tendinous thickening at each commissure that

serves as an attachment site for several of the upper and lower lip

muscles.

I. Orbicularis oris:

The normal orbicularis oris muscle is composed of a superficial "pars

superficialis" and deep "pars marginalis" component.

The deep component originate from the modiolus , continue with

horizontal fibers to cross the midline to the opposite commissure just

superficial to labial mucosa.

Its lower border curls upon itself forming the vermilion by everting the

mucos membrane.

The deep component function is to catch food and general sphincter

activity.

The superficial component functions in facial expression and speech.

Consist of lower " nasolabial" and upper"nasal" bundle.

The lower bundle derives its fibers from the depressor anguli oris and

insert in the skin forming the philtral edge.

The upper bundle represents the insertion of too many muscles and

insert into the anterior nasal spine and the septo-premaxillary ligament

deep to the alar base.



The muscle fibers are not distorted by the cleft, but simply interrupted.

Blood Supply:

The facial artery, a branch from the external carotid system is the main blood

supply to the lip.

The facial artery ascends from the neck over the mid body of the

mandible just anterior to the insertion of the masseter muscle.

The facial artery branches into the submental artery that passes under

the mandibular body

The facial artery ascends and branches into an inferior and a superior

labial artery, which course beneath the orbicularis oris and

anastomose with the contralateral vessel.

The superior labial artery usually branches from the facial artery 1.1

cm lateral and 0.9 cm superior to the oral commissure

The inferior labial artery branches from the facial artery 2.6 cm

lateral and 1.5 cm inferior to the oral commissure

Motor innervations:

Motor innervations mainly by the facial nerve.

The buccal and marginal branches primarily supply innervation to the

perioral musculature.

The fibers supply the majority of the muscles of the face from their

undersurface. The exceptions are the 3 deepest perioral muscles,

namely, the buccinator, levator anguli oris, and mentalis.

Sensory innervations:

Mainly from the trigeminal nerve , maxillary and mandibular branches.

The maxillary nerve give the infra-orbital nerve that exits the infraorbital

foramen 4-7 mm below the inferior orbital rim on a vertical line that

descends from the medal limbus of the iris, supply the lateral nasal

sidewall, ala, columella, medial cheek, and upper lip



The mandibular nerve give the inferior alveolar nerve that give rise to the

mental nerve to supply the lower lip skin down to the labiomental

Unilateral Cleft Lip:

Cleft "Lateral" side:

The premaxilla is outwardly rotated and projecting

The maxilla on the cleft side is hypoplastic and retropositioned.

The vertical height of the lip is decreased

The superficial portion of the orbicularis oris muscle parallels the cleft margin

and abnormally inserts into the cleft side alar base.

The deep portion of the orbicularis is interrupted but does not abnormally

insert

In incomplete clefts the muscle does not cross the cleft unless the bridge is at

least one-third the height of the lip

Muscle continuity is disrupted in a microform cleft

Simonart's band is a skin bridge without muscle that crosses the nasal sill.

Non cleft side:

The philtrum is shortened



Two third of the Cupid's bow , one philtral column, and a dimple hollow are

preserved

The musculature between the philtral midline and the cleft is hypoplastic

The superficial portion of orbicularis oris muscle abnormally inserts on the

cleft margin and base of the columella.

Bilateral cleft lip:

The pathologic anatomy of bilateral cleft lip is similar to that of unilateral

cleft. In addition there is more shortening of the columella and the prolabium

is unique in that there is absence of philtral remnants and muscle elements.

Unilateral cleft lip nose:

The inferior edge of the septum is dislocated out of the vomer groove and

presents with the nasal spine in the floor of the normal nostril.

The septum is deviated to the non-cleft side and convex on the cleft side,

impinging on the airway.

The base of the columella deviates toward the non-cleft side.

There is unilateral shortness in the vertical height of the columella

The nasal tip is deviated to the non cleft side and the dome is depressed on the

cleft side.

The cleft side lower lateral cartilage is attenuated , its medial crus lower in the

columella and its dome separated and inferior to the opposite alar cartilage.

The lateral crus is caudally displaced on the cleft side.

The alar rim is distorted by a skin curtain that droops over the alar rim like a

web and further reduces the apparent height of the columella.

The alar facial groove on the cleft side is absent

The vestibular lining is deficient on the cleft side

The nostril floor on the cleft side is widened.



Bilateral cleft lip nasal deformity:

A short deficient columella

Inferiorly displaced medial crura with depression of alar dome

a bifid nasal tip

lateral displacement of both alar domes with bilateral dislocation of the lateral

crurs from the septum

lateral displacement of alar bases

bilateral alar flaring

Bilateral vestibular webs.

Increased intercanthal distance in UCLP but not in UCL

Cleft palate:

The normal hard palate composed of : the premaxilla anterior to the incisive

foramen , the palatine process of the maxilla , the palatine process of the

palatine bone .

The oronasal surface coverd with dense mucoperiosteal layer.

The soft palate "velume" is made up of of 7 paired muscles "that interdigitate

to separate the oropharynx from the nasopharynx for proper phonation,

swallowing and breathing" involved in velopharyngeal closure

The 7 muscles are :



I. Levetaor veli palatine "LVP"

Origin: from the temporal bone and Eustachian tube.

Insertion: the main bulk of muscles bundle interdigitate at the midline.

Small bundle insert in the palatine aponeurosis.

Function: elevate the velume and pull it posteriorly, medial movement

of lateral pharyngeal wall. Pic ,A

II. Tensor veli palatine "TVP"

Origin: from the membrance wall of Eustachian tube.

Insertion: passes around the pterygoid and gives rise to the palatal

aponeurosis that fuse to the posterior hard palate.

Function: open the Eustachian tube. Pic,B

III. Uvulus: the only intrinsic muscle

Extend behind the elevator to the tip of the uvula.

Function: elevate and shortens the uvula. Pic D

IV. Palatopharyngeus:

Origin: from the posterior pharynx

Insertion: passes through the posterior tonsillar pillar to insert on

velum

Function: depresses the velum. Pic G

V. Palatoglossus:

Origin: originate from the tongue

Insertion: pass through anterior tonsillar pillar to insert on velume.

Function: depresses the velum.

VI. Superior constrictor:

Broad muscle courses anteriorly within the pharyngeal wall to attach to

the velume

Function: moves the lateral pharyngeal wall toward the mid line.

VII. Salpingophageus:

Origin: medial end of Eustachian tube

Insertion: muscle descends posteriorly and inserts into the

palatopharyngeus at junction of velum and lateral pharyngeal wall

Function: elevation of the velum , lateral pharyngeal wall elevation ,

opening and closing the Eustachian tube.



Blood supply to the palate:

The greater palatine artery from the maxillary artery innervates the hard

palate.

The lesser palatine artery from the maxillary artery innervates the soft

palate.

The ascending pharyngeal artery "External Carotide" and a scending palatine

a branch from facial artery supply the lateral velopharyngeal structure.

Innervations:

The great palatine nerve "CN V" via greater palatine foramen innervates the

hard palate.

The nasopalatine nerve "CN V" communicate with the greater palatine nerve

at the incisive foramen to supply the premaxilla.

The lesser palatine nerve "CN V " via the lesser palatine foramen supply the

soft palate.

The muscles of velum are innervated by pharyngeal plexus "CN IX,X,XI"

except TVP which supplied by CN V.

Classification:

The American Cleft Palate Craniofacial Association "ACPA" common classification for clefting uses the terms primary and secondary palate to

define the cleft. " Kernahan and Stark classification" in 1950.

o The primary palate include the structures anterior to the incisive

foramen" lip and alveolus"

o The secondary palate includes structures posterior to the incisive

foramen" hard palate , soft palate and uvula"

o Any cleft can be complete " involving the entire anatomical structure "

or incomplete " involving only part of the anatomical structure"

o Any cleft maybe unilateral or bilateral.

1. Kernhan's striped Y diagrammatic classification:



Diagram keys:

o Boxes 1 and 4 represent the lip

o Boxes 2 and 5 represent the alveolus

o Boxes 3 and 6 represent the hard palate anterior to the incisor foramen.

o Boxes 7 and 9 represent the palate posterior to the incisive foramen

o Box 9 represent the soft palate.

2. Redrawn Kernhan's Stripped Y classification



3. Modified Karnhan's striped Y classification:

Smith , Khoo and Jackson propose modified Kaernhan's striped Y

classification that more accurately describes all varieties of clefts as

follows:

o All right sided clefts are designed numerals without prime

and left sided clefts by numerals with prime. For example, 1

means a complete right cleft lip while 1` means a complete

left cleft lip

o Incomplete cleft lip varies from microform to one third or

two third and this are classified as a-c and a`-c` for right and

left.

o Lips with Simonart's band are classified as d

o The alveolus is documented as 2. "No allowance is made

for minor degrees of clefting of the alveolus as this has little

bearing on management.

o The palate anterior to the incisive foramen and posterior

to the alveolus is documented as 3

o The secondary palate is subdivided into 3 segments, the 4

denotes a cleft up to the palatine process of the maxillary

bone, 5 is a cleft up to the palatine process of the palatine



bone, 6 is cleft including the soft palatte only , and the letter

a denotes a submucous cleft.

4. Veau's classification:

Despit its lack of completeness , the Veau's classification described in 1931 is

commonly used in the literature to compare the outcome of cleft palate repair:

Class 1 cleft of soft palate

Class 2 cleft of hard and soft palate up to the incisive

foramen involving the secondary palate

Class 3 unilateral complete cleft lip and palate extending

from the uvula to the incisive foramen in the midline, then

deflecting to one side and extending through the alveolus at

the level of future lateral incisor

Class 4 bilateral complete cleft lip and palate resembling

class3.

5. Tessier classification Tessier described a classification scheme that is universally utilized, in a landmark

article of 1976

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.

Etiology:

Syndromic "30%"

Non syndromic"70%"

Family members with

cleft palate

Probability of

subsequent child with

cleft palate %

Probability of

subsequent child with

cleft lip+/-cleft palate %

One affected child only 2 4

One affected parent only 2-4 2-4

One affected child and a

positive family history

(with normal parents)

7 7

One affected parent and

one affected child

15 14-17

Craniofacial Syndromes:

History:



In pre-Columbian, congenital malformation were believed due to transgression

of the mothers during pregnancy, the mother often killed the deformed child

immediately after birth, stating that she was, by their customs, obliged to do

this.

In India, because the existence of child was not officially recognized until the

third day of life. The choice was often to leave the child for 3 days without

food, if the child survived, which seldom happened, the parents then felt

obligated to raise the child.

In some African cultures, most minor abnormalities were seen as sign majesty

or power, whereas grossly abnormal facial features were believed to signify

criminality.

In ancient Greece, a malformed adult, if survived, was often selected by the

community to be the ritual projection center of all misdeeds having happened

in the city during the year. The poor individual was then escorted to the city

gates and banished from the city and with him all of the evil.

Pierre Robin Sequence:

It considers a sequence and not a syndrome because it is thought that one

malformation or extrinsic factor causes this pattern of anomalies.

Occur in 1 in 2000 to 1 in 3000.

Emberyological cause of PRS is either failure of the tongue to descend or

restriction of mandibular development.



The characteristic features of PRS are micrognathia, glossoptosis and airway

obstruction. Associated U-shaped cleft palate is present in about 50% of

cases. As the position of the tongue prevent the horizontal movement of lateral

palatal shelves.

Retrognathia , better describes the condition of the jaws in the disorder ,as it

is the posterior displacement of the chin that predisposes to glossoptosis.

Glossoptosis => airway obstruction=> impaired feeding.

Prone position to open the airway or distraction osteogenesis is an alternative

if conservative treatment was not satisfying.

Stickler Syndrome "Hereditary Arthro-ophthalmopathy":

Account for 17.5-24% of patient with syndromic cleft palate.

The characteristic pattern of anomalies includes PRS, ocular abnormalities,

hearing loss and arthropathies.

Stickler syndrome is an autosomal dominant disorder of collagen connective

tissue.

Subdivided into type 1 (75%) and 2 on basis of ophthalmological pattern.

Child with PRS should have ophthalmological screening and routine follow up

to prevent blindness.

Van der Woude Syndrome:

Autosomal dominant disorder

Bilateral lower lip pits, cleft lip with or without palate in 2/3 or isolated cleft

palate in 1/3 and hypodontia.

It is the most frequent cause of syndromic cleft lip and palate, and account

for 2% of all cleft lip and palate cases.

Ectrodactyly-Ectodermal-Dysplasia-clefting syndrome:

EEC syndrome characterized by the lobster claw anomaly of all 4

extremetiesm bilateral cleft lip and palate and ectodermal dysplasia " abnormal

hair , teeth, skin, nails and /or lacrimal ducts "

Autosomal dominant disorder.

Velo-cardio-facial syndrome/22q11deletion:

Autosomal dominant disorder with estimated incidence of 1 in 4000 live birth.

Always includes velar dysfunction which ranges from complete secondary

palate cleft to velopharyngeal insufficiency with a normal appearing palate .

Other characteristic include abnormal facies , cardiovascular abnormalities

and developmental delay.

The carotid arteries are frequently tortuous and medially displaced to the

posterior pharyngeal wall, which can cause concern when performing a

pharyngeal flap.



The diagnosis can be made by FISH testing.

Blepharo-Cheilo-Dontic syndrome:

Autosomal dominant disorder with variable expressivity

Characterized by abnormalities of the eye, teeth and cleft lip and palate.

Treacher Collins Syndrome:

Discussed before in Craniofacial and Hypertolerism seminar.

Non-Syndromic Clefts:

1. Facial dimension:

Emberyonic face shape predisposes to cleft lip in mice.

Increased transverse facial dimension maybe risk factor for

palatal clefts due to the longer distance between palatal shelves

that must overcome for fusion

This may help explain ethic gender differences in cleft

incidence. For example, Asian typically have wider faces that

may contribute to the more frequent failure of palatal shelf

fusion in this group.

2. Environmental factors:

Maternal alcohol consumption women who consumed 5 or

more drinks per week at increased risk of having children with

isolated cleft lip or palate.

Maternal Cigarette smoking recent metanalysis of 24 studies

revealed a consistent and significant association between cleft

lip or palate and maternal smoking.

Maternal folic acid deficiency

Medication example: retinoid, anticonvulsant, and steroids.

Altitude higher risk of cleft lip in the highlands than in the

lowlands.

Metabolic mother with DM have higher incidence oral clefts

babies than non diabetic mother

Parental age recent metanalysis shows no elevated risk of

NSCLP in older mothers , on the other hand increase maternal

age has been associated with increased risk of SCLP.increased

paternal age maybe more significant than the mother's .



References:

Mathes , Plastic Surgery , Volume 4 " Pediatric Plastic Surgery,

2005

Selected Readings In Plastic Surgery , Volume 10 , Number 16 ,

part 1 , 2007

Pearls Of Wisdom , Plastic And Reconstructive Surgery , Board

Review, 2006.

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Cleft Lip and Palate