Cleft Lip & Palate

DR. KUSH PATHAK

Birth defects occur when a baby’s lip or mouth
do not form properly during pregnancy.

Together, these birth defects commonly are

called “Orofacial Clefts”.
Cleft - Split, divided, or partially divided into two.
 Orofacial clefts

Cleft lip (CL)

Cleft lip and palate (CLP)
Cleft palate (CP) alone
As well as median, lateral (transversal), and oblique
facial clefts—are among the most common congenital
anomalies.
 Cleft lip

Develops from the two sides of the face, namely

maxillary processes.
They move together towards the center and fuse.
Middle part of the lip develops from Medial nasal
processes.
 Cleft palate

• Palate is formed from two parts

• Primary (Anterior) and secondary (Posterior)
• Primary palate develops from Intermaxillary
segment/ Medial nasal processes.
• Secondary palate develops from the maxillary
processes. (Giving rise to palatine shelves).
• Failure in fusion of Primary and secondary palate, or
in fusion of palatine shelves, could give rise to
CLEFT PALATE
Oblique Facial Cleft
Approximately 1 case of orofacial cleft occurs in
every 500-550 births.
Males >Females – 2:1
Asian > Caucasian
Most common cleft – Bilateral complete cleft
 Non Syndromic Clefts

It is a common craniofacial malformation with a

complex genetic component.
Majority of Orofacial clefts are Non Syndromic.
70% of cleft lip +/- palate, 50% of CP only.
• Multifactorial(Genetic + Environmental)
• Clusters in families
• IRF-6, TGF-B2, TGF- alpha.
• Any disturbance in the process can result in clefting
 Syndromic clefts

Syndromic forms are in many cases due to

chromosomal aberrations or monogenic diseases.
Associated with over 300 syndromes.
Van Der Woude syndrome- the most common
Autosomal dominant lower lip pits (mutation of IRF6
gene).
Teratogen exposure
Ethanol, thalidomide, phenytoin
Environmental factors
Amniotic bonding, maternal diabetes, maternal
folate deficiency
 Amniotic Bonding

Congenital disorder.
Entrapment of foetal parts (usually a limb or digits) in
fibrous amniotic bands while in utero.
 Etiology

Linked to genes located on more than several

chromosomes including 1,2,4,6,19
Maternal smoking (20/day)
Passive smoking
Drugs – Accutane, Phenytoin, Warfarin, Ethanol

- Folic Acid def. in mother

- Large quantity of Vit. A.
- Teratogenic causes
- Tetracyclin, Metronidazole, Sulphonamide
Transmission

Can be Autosomal Dominant

Can be Autosomal Recessive
Sex linked inheritance pattern.
Mutations in one or more genes.
Method

If one parent has cleft lip – Child faces 20% risk.

If one child has cleft lip, following child faces

14% risk.
 So,

Face and facial structures are formed out of 3

plates.
These plates migrate towards the meeting point in
the middle area of face.
Structures of Orbicularis muscle form the lip. They
are joined at philtrum lines
These lines join by 4th week of Pregnancy.
 Embryology

 Face appears to develop at the end of the fourth

week.

 It is completed by the eighth week

 The palate is formed by the end of the tenth week.

• Palate is formed out of structure that begins as
tongue and palate.
• Between 4th and 8th week of gestation, the tongue
drops down and palatal segments then move from
the sides and towards the middle, fusing in
center.
 Fourth Week

A series of swellings appear around

 the stomodeum
 the frontonasal process,
 the bilateral maxillary process
 the mandibular process.
 Fifth Week

 The nasal pits deepen and rupture, forming

communications between the nasal and oral cavities,
called primary choanae.
 Normal Process

6 week
th

Maxillary Process Join and fuse to form

Lateral Nasal Process the primary palate
Median Nasal Process
7th week
Median nasal process Fuse & create upper lip
Maxillary process and anterior maxillary
alveolus.
8th week
• Tongue migration occurs.
• Earlier it’s postured superiorly between lateral palatal
shelves of maxilla.
• Then tongue moves inferiorly allowing palatal
processes to grow towards the midline and fuse.
• Forming nasopalatine foramen to uvula.
11th Week
Total palatal closure
The overall development of the palate involves the
formation of the primary palate followed by the
formation of the secondary palate.
Types of Palate
 Primary Palate

• Medial nasal prominences fuse to form the

primary palate
• Consists of maxillary alveolar arch with 4 incisors
and the hard palate anterior to the incisive
foramen
• Primary palate forms before the secondary
At approximately 30-
37 days' gestational
age (GA), the
primary palate forms.
 Secondary palate

• It is an anatomical structure that divides the nasal

cavity from the oral cavity in many vertebrates.
• It refers to that portion of the hard palate that is
formed by the growth of the two palatine shelves
medially and their mutual fusion in the midline.
• With extension of the head at 7th week, mandible
grows & the tongue is withdrawn.
• The palatal shelves can swing into a more horizontal
and midline position for fusion and formation of a
hard and soft palate.
The cleft of the hard palate and soft palate is
thought to occur because of the intervening
tongue, which impedes elevation of the
palatal shelves.
A cleft, therefore, is not something that is formed,
so much as it is something that is not formed.
Specifically, cleft has been considered to result from
the failure of developing facial prominences or
processes to obliterate these grooves by mesodermal
migration or merging.
• The failure then allows the abnormal persistence of
a groove which, in turn, breaks down and produces
a cleft.
Relationship between facial clefts and embryonic facial
geography : -
• Cleft lip – Maxillary and nasolateral prominences
fail to merge with naso-medial prominence.
The naso-lateral prominence successfully unites with
the maxillary.
• Oblique cleft – Naso-
ocular type- failure of
nasomedial, naso –lateral
and maxillary
prominences to merge
with each other. (Tessier
3)
• Oblique cleft - Medial oro-ocular type- failure of
maxillary prominence to merge with either naso
lateral or nasomedial prominences.
• There is successful merging of nasomedial and
nasolateral prominences.
• Oblique cleft, lateral oro-ocular type – Does not
correspond to any embryonic facial geography. The
cleft traverses the maxilla lateral to the Infraorbital
foramen.
• Horizontal cleft –
failure of maxillary
and mandibular
prominences to
merge.
• Midline cleft of lower lip and mandible – failure of
merging of the paired mandibular processes.
• Midline cleft – failure of merging of naso medial
prominences. These clefts can be divided into two
main groups –
Frontal View of Median Cleft of Mandible With
Extension to Lower Lip and Tongue
• Failure of mesodermal migration or merging of the
naso medial prominences results in a varying degree
of a midline cleft.
• Complete agenesis of the frontonasal process
resulting in arhinencephaly, cyclopia etc.
Classification of Cleft Lip and Palate

Veau Classification
Striped – y Classification
David and Ritchie classification
 Veau classification for Cleft Palate

The Veau classification system (1931) divides the cleft

lip and palate into 4 groups, which are as follows.
• Group I – Defects of the soft palate only
• Group II – Defects involving the hard palate and soft
palate to incisive foramen
• Group III – Complete unilateral of soft palate,
hard palate, lip and alveolar ridge.
• Group IV – Complete bilateral clefts including
soft, hard, lip and alveolar ridge.
A: Group I. Defects of the soft palate
only. B: Group II. Defects involving
the hard palate and soft palate. C:
Group III. Defects involving the soft
palate to the alveolus, usually
involving the lip. D: Group IV.
Complete bilateral clefts.
 Veau classification for Cleft Lip

Class I – Unilateral notching of vermilion zone not

extending into lip.
Class II – Unilateral notching of vermilion zone with
cleft extending into the lip but not including the floor
of nose.
Class III – Unilateral notching of vermilion zone with
cleft extending into the floor of nose.
Class IV – Any Bilateral clefting of the lip, whether it
be incomplete notching or complete clefting.
 Selected Mouth & Pharynx Deformities

Robin sequence
Includes cleft palate (CP), a small mouth, and retrognathia.
Retrognathism - Functional abnormality of the tongue
musculature that manifests with airway obstruction during
sleep, as the tongue falls posteriorly.
Respiratory difficulties, feeding difficulties
In mild cases, conservative treatment consists of placing
the patient in a prone position and intensive monitoring.
Surgery is indicated if no improvement occurs after 7
days.
Surgery involves either tracheostomy or repositioning of
the tongue.
 Macroglossia

Congenital macroglossia,
Muscular hypertrophy or hyperplasia (Beckwith-Wiedemann
syndrome), or hemihypertrophy.
Vascular malformation is a common cause of macroglossia. 
Macroglossia may interfere with speech or deglutition.
• In addition, the exposed tongue can become dry, cracked,
and ulcerated.
• Oral hygiene and drooling can be problematic.
• Macroglossia is a feature of Down syndrome.
Ankyloglossia
Tongue tie
 Lingual thyroid

A lingual thyroid is due to the undescended thyroid at

the tongue base.
Common symptoms include dysphagia; dysphonia;
and, occasionally, dyspnoea.