Cleft Lip and Palate Outline

Introduction

• Approximately 15 types of orofacial clefting with cleft lip and palate being the
most common
• Most common congenital malformations of the head and neck
• 1 in 700 live births (1/1000 in the US)
• In the US, approximately 7500 babies are born with orofacial clefts per year
with an average lifetime medical cost of $100,000 (750 million per year)
• Associated problems include otological disease, speech and language
problems, dental deformities, and psychosocial issues
• Best managed with a multidisciplinary approach (medical and surgical)

Prevalence
• Ethnic groups(CL+/-P)
– Highest rate
• Native American and Asians ( 2/1000 live births)
– Intermediate rate
• European descendants (1/1000 live births)
– Lowest rate
• African populations (1/2500 live births)
• No difference between ethnic groups for cleft palate only (1/2000 live birth)
• Gender
– 2:1 – M:F ratio – cleft lip +/- palate
– 1:2 – M:F ratio – cleft palate only (late closure of palatine shelves)

Causes
• Folklore explanations
– Aztecs – eclipses occurred because a bite had been taken out of the
moon
– Prevented with an obsidian knife above the pregnant abdomen
– Modern Mexico – prevented with keys and safety pins

Early Chinese

– Eating rabbit – “hare lip”

– Bad karma or wrongdoings

• Philippines

– Force to the fetal face

• Familial or “In the blood”

Familial

• 2 unaffected parents with 1 child 

affected

– Risk for future children:

• 4.4% for CL+/- palate

• 2.5% for CP only

• 1 parent affected

– Risk for future children

• 3.2% for CL+/- palate

• 6.8% for CP only

• 1 parent affected with 1 child affected

– Risk for future children

• 15.8% for CL+/- palate

• 14.9% for CP only

Etiology

• Majority of orofacial clefts are 

nonsyndromic

– 70% of CL +/- palate

– 50% of CP only

• Nonsyndromic clefts

– multifactorial

– Clusters in families but not mendelian

– Palate development complex process 

with several proteins, growth factors, and 

transcription factors involved

• IRF-6, TGF –B2, TGF-alpha

– Any disturbance in the process can result 

in clefting

Syndromic clefts:

– Associated with over 300 

syndromes

• Van der Woude syndrome – the most 

common

– Autosomal dominant

– Lower lip pits

– Teratogen exposure

• Ethanol, thalidomide, phenytoin

– Environmental factors

• Amniotic banding, maternal 

diabetes, maternal folate deficiency

Anatomy

• Orbicularis oris

• Vermillion (wet/dry border)

• Cupid’s bow

– Along the upper vermillion 

cutaneous border (white 

roll), two midline 

elevations form the bow

• Philtrum

– Philtral columns and 

dimple

• Tubercle

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 

palate begins formation

Secondary Palate

• During the 6th week

– Shelf-like outgrowths from the bilateral maxillary processes, grow vertically 

down on both sides of the tongue 

• During the 7th week

– The tongue moves inferiorly and the palatal shelves migrate to a horizontal 

position above the tongue

• Palatal fusion occurs in an anterior to posterior direction and completes 

with uvular fusion (1 week later in females)

Cleft Lip and Palate Formation

• Disruptions at any stage of the developmental process can result in 

clefts

– Timing

– Positioning 

• Pierre Robin Sequence – micrognathia

– Wide U shaped cleft palate

– Failure of fusion of the palatal shelves result in clefts of the secondary 

palate

Unilateral Cleft Lip

• Incomplete

– Muscle fibers of the orbicularis oris are often 

intact but hypoplastic

– Varying degrees of clefting

• Complete

– Orbicularis oris inserts at the columella medially 

and ala laterally on the cleft side

– Columella is displaced to the normal side

– Nasal ala on the side of the cleft is displaced 

laterally, inferiorly, and posteriorly

– Nasal tip is deflected towards the noncleft side

• Alveolus may or may not be involved

Bilateral Cleft Lip

• Orbicularis oris attaches at the lateral cleft margins 

bilaterally at the nasal ala

• Premaxilla protrusion

• Symmetrical nasal deformities

– Laterally displaced ala – widely flared

– Extremely short columella

References

Arosarena, Oneida A. "Cleft lip and palate." Otolaryngologic Clinics of North America 40.1 (2007): 27-60.

2. Cummings, Charles W., and Paul W. Flint. Cummings Otolaryngology Head & Neck Surgery. Philadelphia: Mosby Elsevier, 2010. Print.

3. Dixon, Michael J., et al. "Cleft lip and palate: understanding genetic and environmental influences." Nature Reviews Genetics 12.3 

(2011): 167-178.

4. Dyleski, R. A., D. M. Crockett, and R. W. Seibert. "Cleft lip and palate: evaluation and treatment of the primary deformity." Head and 

neck surgery—otolaryngology, 4th edn. Lippincott Williams & Wilkins, Philadelphia (2006): 1317-1335.

5. Grayson, Barry H., and Deirdre Maull. "Nasoalveolar Molding for Infants Born with Clefts of the Lip, Alveolus, and Palate." Seminars in 

Plastic Surgery. Vol. 19. No. 4. Thieme Medical Publishers, 2005.

6. Liau, James Y., A. Michael Sadove, and John A. van Aalst. "An evidence-based approach to cleft palate repair." Plastic and 

reconstructive surgery 126.6 (2010): 2216-2221.

7. Marazita, Mary L. "The evolution of human genetic studies of cleft lip and cleft palate." Annual Review of Genomics and Human 

Genetics 13 (2012): 263-283.

8. Moore, Keith L., and A. M. R. Agur. Essential Clinical Anatomy. Philadelpia, PA: Lippincott Williams & Wilkins, US, 2006. Print.

9. Robin, Nathaniel H., et al. "The multidisciplinary evaluation and management of cleft lip and palate." Southern medical journal 99.10 

(2006): 1111-1120.

10. Szabo, C., et al. "Treatment of persistent middle ear effusion in cleft palate patients." International journal of pediatric 

otorhinolaryngology 74.8 (2010): 874-877.

11. van Aalst, John A., Kamal Kumar Kolappa, and Michael Sadove. "MOC-PS (SM) CME Article: Nonsyndromic Cleft Palate." Plastic and 

reconstructive surgery 121.1S (2008): 1-14.