CLEFT LIP AND PALATE.pptx

cleft lip etiology and management

1. CLEFT LIP AND PALATE Pushpa Lal Bhadel Department of Pediatric surgery Kathmandu Model Hospital

2. Introduction The dictionary meaning of cleft is a crack, fissure, split or gap. Cleft lip and palate is a congenital birth defect which is characterized by complete or partial cleft of lip and/or palate. Cleft lip and palate is the second most common congenital anomaly after clubfoot. Generally divided into cleft lip (CL), cleft palate (CP) and cleft lip with cleft palate (CLP).

3. Epidemiology According to WHO(2001) 1:700 live births have oral clefts of any form. International estimates: cleft lip with or without cleft palate range from 7.94 to 9.92 per 10,000 live births (IPDTOC, 2011; Tanaka, Mahabir , Jupiter, & Menezes, 2012) U nilateral clefts accounting for 80% of incidence and bilateral for remaining 20%. A mong unilateral clefts, clefts involving left side are seen in 70% of cases.

4. Epidemiology In Nepal: Total birth prevalence of cleft of the lip ± cleft of the palate (CL±P) was 1.64/1000 live births per year 1 Another study revealed 23.51% CL, 54.85% CLP and 21.64% CP. There were 58.21% males and 41.79% females 2 The male to female ratio of CL/P is 2:1, 3 While the male to female ratio of CP is 1:2 3 1 Singh VP, Sagtani R, Sagtani A. Prevalence of cleft lip and cleft palate in a tertiary hospital in Eastern Nepal. Mymensingh Med J. 2012;21(1):151-4. 2 Khatun, Sanzida . (2019). Study of Cleft Lip and Palate in Kathmandu Model Hospital, Nepal. Orthodontic Journal of Nepal. 9. 6-10. 10.3126/ojn.v9i1.25682. 3 Mai CT, Cassell CH, Meyer RE, et al. Birth defects data from population-based birth defects surveillance programs in the United States, 2007 to 2011: highlighting orofacial clefts. Birth Defects Res Part A Clin Mol Teratol . 2014;100(11):895-904.

5. Embryology Development of facial structures starts at the end of 4 th week 5 facial prominences around stomatodeum Unpaired frontonasal process Paired maxillary prominences Paired mandibular prominences 12 Thronton JB, Nimer S and Howrd P. The incidence, classification, etiology and embryology of oral clefts. Semin Orthod 1996;2:162-168

6. In following 2 weeks – The 2 medial nasal processes fuse in midline – upper lip Mandibular processes fuse in midline – lower lip Thronton JB, Nimer S and Howrd P. The incidence, classification, etiology and embryology of oral clefts. Semin Orthod 1996;2:162-168

7. Formation of clefts Failure of fusion of maxillary and medial nasal processes – anterior to incisive foramen Failure of fusion of palatine shelves – posterior to incisive foramen Cleft lip – failure of proliferation of mesodermal cells in midline

8. Etiology Genetic factors: SATB2 (transcription factor), SHH (Sonic hedgehog), IRF6 Environmental factors: inutero exposure of different medications and environmental agents Drugs: antiseizure agents (phenytoin, sodium valproate, topiramate), folic acid antagonists (methotrexate), Ondansetron in 1 st trimester, Nitrofurantoin Cigarette smoking Folate deficiency

9. Etiology Maternal obesity Amniotic band sequence Others: viral infection, radiation, poorly controlled DM Chances increases if more than one family member if affected Risk decreases in remotely related individuals Consanguinity increases the rate because of sharing of genes

10. Etiology 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

11. Etiology Associated with syndromes:  approx. 30% of cases of CL/P and 50 % of cases of CP Down syndrome Di George syndrome Van der Woude syndrome Treacher Collins syndrome Oral-facial digital(OFD) syndrome type I SATB2 syndrome

12. Classification Bixler divided oral clefts into three groups Syndromic / single-gene / chromosomal or environmental 1% of CLP AND 8% of isolated cleft palate Familial 25% of CLP and 12% of isolated cleft palate Isolated / non-familial 75% of CLP and 80% of isolated cleft palate

13. Classification Davis and Ritchie’s classification 1992 Group I: Prealveolar process cleft (clefts affecting the lip) Unilateral (right/left: complete/incomplete) Bilateral (right: complete/incomplete; left: complete/incomplete) Median (complete/incomplete) Group II: Postalveolar process cleft (clefts affecting the palate) Soft palate Hard palate

14. Classification Group III: Alveolar process cleft (any cleft involving the alveolar process) Unilateral (right/left: complete/incomplete) Bilateral (right: complete/incomplete; left: complete/incomplete) Median (complete/incomplete)

15. Classification Victor and Veau’s classification (1931) A] Cleft lip Class I: U/L notching of vermillion border, not extending into the lip. Class II: cleft extending into the lip, but not including the floor of the nose. Class III: extending into the floor of the nose. Class IV: any b/l cleft of the lip, whether incomplete or complete.

16. B] Cleft palate Class I: soft palate Class II: soft/hard palate extending no further than incisive foramen. Class III: complete unilateral cleft, extending from uvula to incisive foramen, then deviating to one side Class IV: two clefts extending forward from the incisive foramen into the alveolus. Allori AC et al. Classification of Cleft Lip/Palate: Then and Now. Cleft Palate–Craniofacial Journal 2016;53(1)

17. Fogh-Andersen’s classification (1942) Harelip (single or double) Harelip with cleft palate Isolated cleft palate Rare atypical clefts, e.g., median cleft lip Allori AC et al. Classification of Cleft Lip/Palate: Then and Now. Cleft Palate–Craniofacial Journal 2016;53(1)

18. Kernahan and Stark’s classification (1958) Allori AC et al. Classification of Cleft Lip/Palate: Then and Now. Cleft Palate–Craniofacial Journal 2016;53(1) Clefts of structures anterior to the incisive foramen Clefts of structures posterior to the incisive foramen Clefts affecting structures anterior and posterior to the incisive foramen

19. American Cleft Palate–Craniofacial Association (ACPA) classification (1962) Clefts of the prepalate (cleft of lip and embryologic primary palate) Cleft lip (cheiloschisis) Cleft alveolus (alveoloschisis) Cleft lip, alveolus, and primary palate (cheiloalveoloschisis) Clefts of the palate (cleft of the embryologic secondary palate) Cleft of the hard palate (uranoschisis) Cleft of the soft palate (staphyloschisis or veloschisis) Cleft of the hard and soft palate (uranostaphyloschisis) Allori AC et al. Classification of Cleft Lip/Palate: Then and Now. Cleft Palate–Craniofacial Journal 2016;53(1)

20. Allori AC et al. Classification of Cleft Lip/Palate: Then and Now. Cleft Palate–Craniofacial Journal 2016;53(1) 3. Clefts of the prepalate and palate ( alveolocheilopalatoschisis ) Facial clefts other than prepalatal and palatal Cleft of the mandibular process Naso-ocular clefts Oro-ocular clefts Oro - aural clefts

21. Classification Kernahan and Stark’s stripped Y classification (1971)

22. Spina’s classification (1973) 22 Allori AC et al. Classification of Cleft Lip/Palate: Then and Now. Cleft Palate–Craniofacial Journal 2016;53(1) Group I: Preincisive foramen clefts Unilateral Bilateral Medial Group II: Transincisive foramen clefts Unilateral Bilateral Group III: Post incisive foramen clefts Total Partial Group IV: Rare facial clefts

23. Kernahan and Stark’s stripped-Y: Modification by Ehlsaky (1973) and Millard (1976) 44

24. Schuchardt and Pfeifer’s symbolic classification 24 l e ft R i ght Lip Alveolus Hard palate Soft palate Total cleft Allori AC et al. Classification of Cleft Lip/Palate: Then and Now. Cleft Palate–Craniofacial Journal 2016;53(1) P a rti a l

25. LAHSHAL classification by Okriens (1987) 25 Allori AC et al. Classification of Cleft Lip/Palate: Then and Now. Cleft Palate–Craniofacial Journal 2016;53(1) Lahshal is a paraphrase of the anatomic areas affected by the cleft. L – lip A – alveolus H – hard palate S – soft palate H – hard palate A – alveolus L – lip

26. Diagnosis Prenatal diagnosis Benefits: Identify the associated syndromes prenatally Provides time to learn and adjust to facial abnormality Prepare for the needs of their offspring Make arrangements to transfer to center that specializer in such diseases Option of terminating

27. Diagnosis Prenatal diagnosis Disadvantages : Emotional disturbance High maternal anxiety and dysfunction Termination of pregnancy

28. Diagnosis Prenatal Ultrasound Clearly visualized sonographically, which is at 13 to 14 weeks of gestation by transabdominal ultrasound 2D US: Detection rates: 9% to 100% for CL/P, 0% to 22% for CP and 0% to 73% for all types of cleft 1 3D US: Detection rate: 100% for CL, 86% to 90% for CL/P and 0% to 89% for CP 1 CL also have palatal involvement: 85 percent of bilateral CL and 70 percent of unilateral CL cases are associated with CP 2 2 Jensen BL, Kreiborg S, Dahl E, Fogh-andersen P. Cleft lip and palate in Denmark, 1976-1981: epidemiology, variability, and early somatic development. Cleft Palate J. 1988;25(3):258-69. 1 Maarse W, Bergé SJ, Pistorius L, et al. Diagnostic accuracy of transabdominal ultrasound in detecting prenatal cleft lip and palate: a systematic review. Ultrasound Obstet Gynecol. 2010;35(4):495-502.

29. Diagnosis Prenatal US Transabdominal US Not reliable till gestational age of 15 weeks Done at 20 or more weeks of gestation Transvaginal USG Earlier visualization (12 weeks) Better image resolution Greater specificity and sensitivity

30. Problems associated Feeding Cleft lip= makes it more difficult for an infant to suck on a nipple Cleft Palate= may cause formula or breast milk to be accidently taken up into the nasal cavity Inability to create negative pressure inside oral cavity Frequent regurgitations Infant held at 30-45 angle to aid swallowing Upper respiratory tract infections

31. Problems associated Dental problems Congenitally Missing teeth, Hypodontia, Hyperdontia, Oligodontia Presence of natal and neonatal teeth Anomalies of tooth morphology like microdontia, macrodontia etc Fused teeth Enamel Hypoplasia Poor periodontal support, early loss of teeth Orthodontics Problems: Anterior and Posterior Cross bite Spacing and crowding

32. Problems associated Nasal Deformity and Esthetic Problems Facial Disfigurements Poor nasal shape Scar marks of surgeries Poor lip function during speech Poor dental alignment and smile

33. Problems associated Ear Problems Middle ear disease - 22% to 88% Conductive hearing loss and chronic suppurative otitis media may result Repeated tympanostomy tube placement

34. Problems associated Speech Difficulties Hearing loss hampers proper development of speech Velopharyngeal Insufficiency (VPI) Poor pronunciation of Bilabial, Labiodental, Linguoalveolar sounds

35. Management Multidisciplinary approach Genetic Scientist Pediatrician Pedodontist Orthodontist Oral and Maxillofacial Surgeon Prosthodontist ENT Surgeon Plastic Surgeon Psychiatrist Speech Therapist Social Worker

36. Non-Surgical Treatment Dental Obturator For high-risk patients or those that refuse surgery. Advantage- High rate of closure Disadvantage- Need to wear a prosthesis, and need to modify prosthesis as child grows.

37. Schedule of management Birth: Initial Assessment Pre-surgical assessment 3 Month: Primary Lip repair 18 month: Palate Repair 2 Year: Speech assessment 5 Year: Lip Revision Surgery 9 Year: Initial interventional Orthodontics Preparation for alveolar bone grafting 10 Year: Alveolar Bone Grafts 14 Year: Definite Orthodontics 16 Year: Nasal Revision Surgery 20 Year: Orthognathic Surgery

38. Management of cleft lip and palate can be divided into following stages: Stage I - treatment done from birth to 18 month of age Stage II - from 18 th month to 5 th year of life( primary dentition stage) Stage III - treatment carried out during mixed dentition stage from 6 th to 11 th year of life Stage IV - treatment done during permanent dentition stage ( 12-18 years)

39. Fe e ding Cleft lip = makes it more difficult for an infant to suck on a nipple U se special nipples to allow the baby to latch properly (either pump or use formula) Cleft Palate = may cause formula or breast milk to be a ccidentally taken up into the nasal cavity D on’t feed baby without palatal obturator (prosthetic palate) F eed in an upright position to keep milk from coming out of the nose

40. Special Needs Feeder / Haberman feeder Mead Johnson/Enfamil Cleft Feeder Dr. Brown’s Natural Pigeon Feeder Flow to relieve gas

41. Management Principles of Surgery: To restore the normal anatomy of lip, nose, and face Normal or near normal anatomy promotes normal function, thereby encouraging normal growth and development of lip, nose, palate and facial skeleton

42. Management Timing of surgery Better results are obtained when the child is at least 3 months. Millard Criteriae for cleft lip: -10 pounds of weight 10 weeks old 10g m % Hb WBC < 10,000/ uL Cleft palate : -10 kgs weight 10-18mths old 10gm% Hb

43. Surgical Management Complete Cleft Lip Goal: Symmetric shaped nostrils, nasal seal, and alar bases; well defined philtral dimple and columns; natural appearing Cupid’s bow; functional muscle repair Flap designs: 1)Rotation-advancement (Millard, Mohler) 2)Quadrangular 3)Triangular (Tennison-Randall)

44. Millard Technique “Cut as you go” technique Preserves’ cupid’s bow and philtral dimple Scar placed in more anatomically correct position along philtral column Tension of closure under the alar base; reduces flair and promotes better molding of the underlying alveolar processes

45. Cleft Palate Repair - Timing Dorf and Curtin 10% occurrence of articulation errors when palatoplasty was completed by 1 year 86% incidence of articulation errors when repair was complete after 1 year Haapanen and Rantala – Significantly fewer children in the groups repaired before 18 months had hypernasal speech, articulation errors, or required secondary surgery to correct speech

46. Cleft Palate Repair Schweckendick’s Primary Veloplasty V-Y Pushback Von Langenbeck Palatal Repair Furlow Palatoplasty

47. Cleft Palate Repair Schweckendick’s Primary Veloplasty Incisions made in soft palate Muscle bundles released from the posterior hard palate and rotated Reconstruction of levator sling Closure of mucosal layers separately

48. Cleft Palate Repair V-Y Pushback (WARDILL OPERATION) Two uni-pedicled flaps (greater palatine artery) and one or two anteriorly based pedicled flaps Posterior flaps rotated in a V-Y advancement technique - increasing the length of the palate Nasal mucosa not closed Improved speech results compared with bipedicled techniques Indicated for incomplete clefts

49. Von Langenbeck Operation:

50. Cleft Palate Repair Furlow Palatoplasty L engthens the soft palate Reconstructs the muscle sling. Also commonly used to correct velopharyngeal insufficiency in patients with submucous cleft palate Speech outcomes are improved compared with other palatoplasty techniques.

51. Thank You