CLEFT LIP AND PALATE

BHARAT POKHREL, MD

CLEFT LIP

• A child born with cleft lip/palate or other craniofacial anomalies has multiple and complex problems, including early feeding and nutritional concerns, middle ear disease, hearing deficiencies, deviations in speech and resonance, dentofacial and orthodontic abnormalities, and psychosocial adjustment problems.

(American Cleft Palate-Craniofacial Association ACPA)

Cleft Lip and Palate

• Clefts of the lip, alveolus and palate are the most common congenital malformations of the head and neck

• CL/P are considered intrinsic disorders of morphogenesis

• Heterogenous• 30- 65% are assoc. w/ a syndrome

CLEFT LIP

The philtrum of the upper lip develops from the fusion of the medial nasal process and the lateral portions of the maxillary process.

Generally unilateral (80%).

Most common in males on left side.

UNILATERAL CLEFT

• Lateral displacement of the premaxilla on the non-cleft side; frequent upward tilting of the premaxilla into the cleft defect

• Underdevelopment of the maxilla on the side of the cleft

• Marked malalignment of the alveolar arches

• Shortened columella, attenuated lower lat. cartilage w/ a flared alar base on cleft side

• Vertical shortness of lip on cleft side

CLEFT LIP WITH CLEFT PALATE

Clinical – The primary palate (pre-maxilla) also develops from the medial nasal process. It starts out as vertical shelves, which must descend in order to fuse with one another. Their fusion occurs in a unidirectional direction (anterior to posterior only). The secondary palate then fuses with the pre-maxilla.Tx/Prognosis – Good prognosis with surgical intervention.

CLEFT PALATE DEFORMITY

• Clefts of the 2ndary palate have varying deficiencies of bone & muscle

• Mucosal deficiency is always present except in a submucus cleft palate

• Palatal muscles are directed anteriorly & have an abnormal insertion into posterior margin of the bony palate and are usually hypoplastic

BILATERAL CLEFT LIP & PALATE

• Premaxilla is freq. protruding & often deficient in bone

• Overlying midportion of the lip commonly attaches directly to the nasal tip w/ a nearly total absence of the columella

• Variably-sized prolabium containing no muscular elements; no Cupid’s bow or philtrum

• Maxillary alveolar arches are often underdeveloped & are freq. collapsed in an upward inward direction

SUBMUCOUS CLEFT

• char. by midline mesodermal deficiency between the oral & nasal mucus membranes inv. the soft palate & posterioredge of the hard palate

• there is notching of the posterior edge of the hard palate

• Loss of posterior nasal spine• muscular deficiency of the

soft palate w/ a bifid uvula• “zona pellucida”

BIFID UVULA

Etiology – Hereditary and environmental factors.

Clinical – A failure of fusion at the last phase of development of the soft palate making the uvula appear split into two.

T/P – No treatment required.

- Prognosis excellent.

Embryologic Development of the Face and Palate

Development of the face– Formed between the 5th and 8th weeks of

gestation– Results from the fusion of

Two mandibular processes One frontonasal process Two maxillary processes

– Cleft lip occurs when the fusion process between the frontnasal masses and the maxillary processes is interrupted

CD-ROM Ch.11.08 morphing sequence depicting embryologic development of the human face

Etiologies1. Genetic disorders

n Factor in over 400 different genetic syndromes2. Chromosomal aberrations3. Teratogenically induced disorders

n Environmental teratogens are agents that interfere with or interrupt normal fetal development

4. Mechanically induced abnormalitiesAmniotic rupture, intrauterine crowding, uterine

tumors, irregularly-shaped uterus

Causes

• Oral clefts have been linked to genes located on more than several chromosomes including 1, 2, 4, 6, and 19, among others

Causes

• Maternal smoking (especially more than 20/day) and exposure to passive smoke

• Drugs: Isotretenoin, phenytoin, warfarin, ethanol

• Maternal folic acid deficiency• Ingestion of large quantities of Vitamin A

Method Of Transmission

• Depends on the specific cause of the clefting.• Multifactorial clefts can exhibit evidence of

autosomal dominant, autosomal recessive, and sex-linked inheritance patterns

• Spontaneous mutation or mutations in one or more genes.

Method Of Transmission

• If one of the parent has a cleft lip, his/her child face a risk of 20%

• If their is one child with cleft lip, the following child faces risk of 14%

• A non cleft parent with a cleft lip faces a riskof 4% for the following child

Risk Factors and PercentPredicted Cleft Recurrence

Affected relatives

Cleft lip and Palate

Cleft palate

General Population

0.1 0.04

1 sibling 4.4 2.51 parent 2.2 6.81 sibling, 1 parent

15.9 14.9

2 siblings 9.0 1.0

Pathogenesis

• The face and facial structures are formed out of three plates, each migrating toward a meeting point in the middle area of the face.

• The facial structures of the orbicularis muscle form the lip. They are joined at the philitrum lines.

• Join by 4th week of pregnancy

Pathogenesis

• The palate is then formed out of the structure that begins as the tongue and palate.

• Between the fourth and the eighth weeks of gestation, the tongue drops down and the palatal segments then move from the sides and toward the middle, fusing in the centre.

Pathogenesis

• A cleft, therefore, is not something that is formed, so much as it is something that does not form.

Normal Process

6 weeks• Maxillary process• Lateral nasal process• Median nasal process• These three processes join and fuse to form

the primary palate

7 weeks

• Median nasal process and maxillary process have fused creating upper lip and anterior maxillary alveolus

8 weeks

• Complex totally fused and mesodermal migration completed Tongue, which has been postured superiorly between lateral palatal shelves of maxilla,

• Moves inferiorly allowing palatal processes to grow toward midline and fuse, form nasopalatine foramen to uvula

11 weeks

• Total palatal closure

CLASSIFICATIONI. Cleft lip

A. Unilateral or bilateralB. Complete or incomplete

II. Cleft palateA. Location in reference to incisive

foramen1. Primary- anterior2. Secondary- posterior

B. Unilateral or bilateralc. Complete or incomplete

III. Submucous cleft palate

Thallwitz Classification

• Also known as the LAHSHAL• Descriptive classification of

each individual case of cleft lip and palate.

• simple, concise, flexible, exact but graphic.

• It describe the site, size, extent as well as type of cleft.

Thallwitz Classification

• Each area is divided into thirds, and cleft defects are graded as to how much of each are affected. Grading is done for both sides as shown:

(right side) (midline) (left side)

L-lip A-alveolus H-hard palate S-soft palate H-hard palate A-alveolus L-lip

Thallwitz ClassificationL = Lip - 1/3 or 2/3 or 3/3

A = Alveolar cleft - 1/3 or 2/3 or 3/3

H = Hard palate cleft - 1/3 or 2/3 or 3/3

S = Soft palate cleft - 1/3 or 2/3 or 3/3

Management of Clefts• Team approachSurgical Management• Lip and primary palate is usually repaired at

around 5 months of age.• Soft palate repair is usually around nine

months of age. (Newborn services clinical guidelines , Nov.

2011)

Surgical ManagementPrimary correction– Lip surgery by 3 months– Palatal cleft surgery by 6-18 months

Secondary correction– Pharyngeal flap

25% of cases Improves velopharyngeal competence Done between 6-12 years of age

THANK YOU