1. Cleft Lip and Cleft Palate

2. Birth Defects Malformations Deformations Disruptions
alterations in normal development
Deformations
abnormal mechanical force on an otherwise normal fetus
Disruptions
disruption of an otherwise normal developmental process

3. Introduction A TEAM APPROACH IS REQUIRED Pediatrician Surgeon OMFS
Dentist
ENT
Psychiatrist
Speech
Nurse coordinator

4. Introduction
The term cleft lip and palate is commonly used to represent two types of malformations, i.e. cleft lip with or without cleft palate (CL/P) and cleft palate (CP).
Most common craniofacial malformation
Asian populations have the highest frequency.

5. Definitions Cleft Lip: It is also called HARELIP.
results in a unilateral or bilateral opening in the upper lip between the mouth and the nose.
It is also called HARELIP.

6. Definitions CLEFT PALATE:
It is birth defect characterized by opening in the roof of the mouth caused by lack of tissue development.

7. Embryology of Cleft Lip
Weeks 4-7
frontonasal,maxillary, and mandibular processes form the face

8. Cleft Lip
Complete closure at 35 days postconception: 7 wks from the LMP.
Lateral nasal, median nasal, and maxillary mesodermal processes merge.
Failure of closure can produce unilateral, bilateral, or median lip clefting.

9. Cleft Palate Lack of fusion of the palatal shelves.
Abnormalities in programmed cell death may contribute to lack of palatal fusion(?).
Isolated disruption of palate shelves can occur after closure of the lip
Palatal closure is not completed until 9 weeks post-conception.

10. Etiology Heredity Environmental factors AD,AR, X- linked
Maternal alcohol consumption
Maternal cigarette smoking
Folic acid defieciency
Corticosteroids
Anticonvulsant therapy

11. Genes
Control cell patterning, cell proliferation, extracellular communication, and differentiation
Clefting usually represents a genetically complex event
Single Mendelian disorders associated with clefting are rare
2 to 20 genes are thought to interact to result in facial clefting

12. Genes
Numerous studies of this type have found significant association to
Transforming Growth Factor-alpha (TGFA)
Transforming Growth Factor-beta 3 (TGFB3)
Retinoic acid receptor-alpha (RARA)
Homeobox gene MSX1
BCL3 proto-oncogene loci.

13. Genes 43% pairwise concordance rate in monozygotic twins
5% concordance in dizygotic twins

14. Genetics Unaffected parents who have If one parent is affected,
one child with cleft lip/palate have an estimated recurrence risk of 4%,
which rises to 9% with two affected children
If one parent is affected,
the risk of having a child with cleft lip/palate is also 4%
increasing to 17% if there is already both an affected parent and an affected child

15. Genetics
As the degree of familial relationship increases, recurrence risk decreases
First-degree relatives 4%
Second-degree relatives 0.7%
Third-degree relatives 0.3%
Recurrence risk increases with the severity of the cleft

16. Rollnick and Pruzansky identified other malformations in
35% of cleft lip/palate patients
54% of cleft palate patients.
Boy > girl (CLCP) , Girl > Boy (CP)
Left > Right

17. Anticonvulsant Therapy
Medications —phenytoin, sodium valproate, methotrexate.
Corticosteroids there is no evidence of an increase in malformations.
Possible association could not be excluded

18. Smoking and Alcohol Cigarette smoking Alcohol
Noted with mothers of children with facial clefting, both CL/P and CP.
Teratogenesis has been attributed to hypoxia as well as a component of tobacco (cadmium).
Alcohol
Associated with an increased risk of fetal facial clefting.
Alterations in cell membrane fluidity or reduced activity of specific enzymes such as superoxide dismutase.

19. Folate deficiency Contributes to a range of birth defects.
Evidence is emerging for a similar association with the development of CL/P.

20. Racial Differences
Cleft lip with or without cleft palate at birth (CL, CLP)
Racial group In 1,000 live births
Native Americans 3.6
Japanese
Chinese
Whites
Blacks

21. Prevalence of Cleft Lip & Palate
Author
Prevalence
Years
Country
Rintala, 1986
1.74
Finland
Tolarova, 1998
0.97
Israel
Druschel, 1996
1.30
USA
Vanderas, 1987
2.68
Japan
Stoll, 2000
1.9
France
Cooper, 2000
1.2
China
Iregbulem, 1982
0.37
Nigeria

22. Frequency Majority of CL/Ps are isolated Majority of CPs are syndromic
6:3:1
Unilateral left to Unilateral right to Bilateral
2:1
CL/P male to female
CP female to male
1.5-3:1
CL/P to CL
21% to 46% to 33%
CL to CL/P to CP
Majority of CL/Ps are isolated
Majority of CPs are syndromic
(McCarthy)

23. Predicted Occurrence (McCarthy) CL/P P One sibling affected 4 2
One parent affected 6
One sibling and one parent affected 17 15
Two siblings affected 9 1
One sibling plus family history 7
(McCarthy)

24. Prenatal Diagnosis
Diagnosed until the soft tissues of the fetal face can be clearly visualized sonographically (13 to 14 weeks).
The majority of infants with cleft lip also have palatal involvement:
85% of bilateral cleft lips
70% associated with cleft palate.
Cleft palate with an intact lip comprises 27% of isolated CL/P

25. Detection of Cleft Lip: Ultrasound

26. Prenatal Diagnosis

27. Prenatal Diagnosis at 12 weeks

28. Symptoms
Eating and drinking is difficult due to regurgitation of food and liquid through the nose.
Speech problem is serious and tends to increase due to mental trauma.
Defect in smelling
It is due to the contamination of the nasal mucous membrane with the oral organism through the cleft palate

29. Symptoms
Airway problems may arise in children with cleft palates,especially those with concomitant structural or functional anomalies
Ear infection and respiratory tract infection

30. Symptoms Teeth ASSOCIATED ANOMALIES:
The alveolar cleft interferes with the dental lamina and the upper lateral incisors may be small, absent or even duplicate.
ASSOCIATED ANOMALIES:
Congenital heart disease,polydactyly and syndactyly, hydrocephalus, microcephalus, supernumerary ear, spina bifida and mental deficiency.

31. Otitis Media Develops within first month of life.
Frequency decreases with increasing age.
Due to abnormalities of cartilage and muscles surrounding the eustachian tube

33. DEFINITIONS The primary palate consists of : premaxilla
: anterior septum
: soft tissues of the lip
The secondary palate is separated from the primary palate by the incisive foramen

34. DEFINITIONS
The secondary palate consists of the structures posterior (dorsal) to the incisive foramen, including
: the remaining hard palate
: the soft palate
: the uvula

35. Anatomy

36. MORPHOLOGIC VARIETIES OF LABIAL CLEFTS
Berkowitz : variations observed in cleft lip and palate anatomy may segregate into four general categories:
1. Clefts involving the lip and alveolus
2. Clefts involving the primary palate (lip) and secondary palate
3. Clefts in which only the secondary palate is affected
4. Clefts involving congenital insufficiency of the palate (non-cleft-related velopharyngeal dysfunction, submucous cleft palate)

37. Anatomy

39. Clefts Involving the Lip and Alveolus

40. Microform Cleft Lip
The microform cleft lip variation has three components, although not all components need be present for the diagnosis to be established:
small vermilion notch
visible band of fibrous tissue extending from the edges of the red lip to the nostril floor
irregularity of the ala on the side of the notch or band

41. Microform Cleft Lip

42. Unilateral Incomplete Cleft Lip and Cleft Alveolus
Incomplete labial clefts may run all the way from the vermilion free border to the nose
Sparing only a thin band of soft tissue (Simonart band)
The bridge of tissue connecting the medial and lateral lip elements contains only
: mucous membrane
: skin
: fibrous connective tissue

43. Unilateral Incomplete Cleft Lip and Cleft Alveolus
Complete diastasis of the orbicularis oris muscle.
The alveolar ridge may show partial expression of the clefting process with a notch.
Alveolar notching may cause minor dental crossbite, but bone grafting at a later time is often unnecessary in these cases.

44. The orbicularis oris muscle

45. Unilateral Incomplete Cleft Lip and Cleft Alveolus

46. Unilateral Complete Cleft Lip and Cleft Alveolus
Complete cleft lip and cleft alveolus (secondary palate intact)
The premaxillary portion of the noncleft segment is rotated anterolaterally.
The underlying alveolus is completely cleft
Lateral displacement of the lateral alveolar segments

47. Bilateral Incomplete Cleft Lip
In bilateral clefts, the prolabial-premaxillary segments may be tiny or large, outwardly rotated or relatively normally positioned
The median prolabial portion of lip is isolated in the midline and remains attached to the premaxilla and the columella.
The underlying alveolus is completely cleft
: lateral displacement of the lateral alveolar segments

48. Bilateral Incomplete Cleft Lip

49. Clefts Involving the Lip and Palate

50. Unilateral Complete Cleft Lip and Cleft Palate
Complete labial clefts
The combination of osseous defects in both the alveolus and the palate contributes to
: instability of the dental arch
: sometimes collapse of the lateral segments

51. Unilateral Complete Cleft Lip and Cleft Palate

52. Bilateral Complete Cleft Involving The Lip, Alveolus, and Palate
The premaxilla may be small or large, symmetric or asymmetric.
The number of incisor teeth contained in the premaxillary segment is directly related to the size and shape of the premaxilla.
When cleft lip is complete on both sides (i.e., bilateral)
: the premaxilla projects considerably forward from the facial aspect of the maxilla
: less evident if the lip is incompletely cleft on one or both sides

53. Bilateral Complete Cleft Involving The Lip, Alveolus, and Palate

54. Bilateral Complete Cleft Involving The Lip, Alveolus, and Palate
The columella appears to be deficient
The alar cartilages are flattened on both sides.
Complete bilateral cleft lip and palate
: both nasal chambers are in direct communication with the oral cavity.
The nasal septum forms a midline structure

55. Classification of Cleft Types
Kernahan's striped Y

56. Sequence of Interventions
Prenatal-1st few weeks – plastic surgeon and nurse/coordinator; ?orthodontist
3 months – hearing test
3-6 months – lip repair +/- BMT
10-18 months – palate repair +/- BMT
2-3 years -dental and speech evaluations

57. Sequence of Interventions (cont.)
5 years – initial team conference
7-9 years – team reassessment re lip and nose revision, orthodontia and bone graft, speech and pharyngoplasty
9-14 years – orthodontia +/- bone graft
Adolescence - lip and nose revision , team conference if necessary

58. Presurgical Intervention

59. When to Treat weight at least 10 pounds Hb at least 10 g
Cleft lip : the rules of ten:
weight at least 10 pounds
Hb at least 10 g
WBC count less than 10,000/mm3
age more than 10 weeks

60. Cleft Lip Repair Old rule of 10’s – Hb, age, weight
Fetal or newborn – risks
Muscle and vertical height
Nasal tip - when?

61. Historical Surgical Aspect

63. Objectives of Palate Repair
Normal speech
Preservation of facial growth
Preservation of hearing
Separation of oral/nasal cavities
Normal dental occlusion
Normal swallowing

65. Surgery

66. Primary veloplasty (Schweckendiek)

67. Bipedicled Flap Palatoplasty (Von Langenbeck)

71. Orthodontia and Alveolar Bone Grafting

72. Pierre Robin Sequence Micrognathia Glossoptosis Horseshoe cleft palate
17% non- syndromic
34% Stickler (eyes, joints); 11% VCF
Positioning > tongue-lip adhesion, floor of mouth release, tracheostomy or mandibular distraction

73. Feedings Infants with CL/P have few feeding problems.
If the cleft involves the hard palate, the infant is usually not able to suck efficiently.
Experiment (special nipples or alternate feeding positions)
The infant should be held in a nearly sitting position during feeding
Prevents flowing to the back into the nose.
Should be burped frequently, (q 3-4min).

74. Feedings It is important to keep the cleft clean
Breastfeeding is extremely challenging.

75. Feeding squeeze bottles with cross-cut nipples Aerophagia
fail to gain weight
excessive aerophagia
Frequent burping
Haberman feeder
Palatal obturator

76. Haberman Feeder Activated by tongue and gum pressure.
Milk cannot flow back.
Replenished continuously as the baby feeds.
Prevents the baby from being overwhelmed with milk.
A gentle pumping action to the body of the nipple will increase flow.

77. Tom Brokaw Jesse Jackson
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Peyton Manning
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Annie Lennox
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Mark Hamill
Actor
Tutankhamun
Egyptian Pharaoh who may have had a cleft lip according to diagnostic imaging