Cleft lip and cleft palate

Cleft lip (CL) and cleft palate (CP) are the most common congenital orofacial deformities. A combination of genetic predisposition and in-utero exposure to teratogens (nicotine, alcohol, antiepileptic drugs) can arrest the fusion of the facial processes required for normal facial development. Failure of fusion of the maxillary prominence with the medial nasal prominence causes cleft lip (CL). Failure of fusion of the palatine prominences causes cleft palate (CP). Cleft lip and/or palate may be unilateral or bilateral and complete or incomplete. In addition to facial deformity, infants with CL and CP have feeding, hearing, speech difficulties, and defects in the dentition. Infants with cleft lips and/or palate require special feeding techniques (feeding in upright position, special feeding bottles) since they cannot effectively create negative sucking pressure. Treatment should be initiated as early as possible and may involve an interdisciplinary team of plastic surgeons, oral maxillofacial surgeons, otolaryngologists, pediatricians, and speech therapists. Nasoalveolar molding and lip taping are non-surgical techniques used to decrease the size of the lip/palatal defects and should be initiated early (at 2 weeks of age). Repair of the cleft lip is done at 3 months of age and of the cleft palate at 6 months of age with the aim of optimizing feeding and speech development without interrupting normal maxillofacial growth.

• Incidence
  • Cleft lip with/without cleft palate is common: 1 case per in 1000 live births
  • Isolated cleft palate is less common: 1 case in 2000 live births
• Unilateral CL/CP is more common than bilateral CL/CP
• Majority of cases are non-syndromic.

References:^[1][2][3][4]

Epidemiological data refers to the US, unless otherwise specified.

The development of CL/CP is dependent on the interaction of environmental factors and genetic predisposition. ^[5]

• Genetic predisposition
  • Family history: multifactorial inheritance pattern (Mendelian inheritance is rare)
  • Part of chromosomal abnormalities: Pierre Robin sequence, Patau syndrome (trisomy 13), Edwards syndrome (trisomy 18)
• Environmental factors: exposure to teratogenic substances in utero
  • Nicotine and/or alcohol
  • Drugs: antiepileptics; (e.g., phenytoin, sodium valproate, carbamazepine, phenobarbital), folate antagonists (e.g., methotrexate, trimethoprim), and excessive vitamin A intake during pregnancy

Cleft lip and palate involves a disrupted fusion of the 5 embryonic facial prominences (the midline frontonasal prominence, the bilateral maxillary prominences, and the bilateral mandibular prominences) and results in congenital orofacial deformities.

• Cleft lip
  • Partial or total failure of primary palate formation during the 6–7^th week of development
  • Failed fusion of the maxillary prominences and medial nasal prominences in the midline
• Cleft palate
  • Failed formation of the secondary palate around 8–12 weeks' development
  • Failed fusion of either the lateral palatine processes (palatine shelves) or of the palatine shelves with the nasal septum and/or primary palate

Partial or total failure of primary palate formation leads to cleft lip, and failed formation of the secondary palate leads to cleft palate.

References:^[6][7][8]

Facial features ^[2][9]

CL/CP may be unilateral or bilateral, complete or incomplete.

Cleft lip

• Incomplete cleft lip: cleft on the upper lip that does not extend into the nostril (unilateral/bilateral)
• Complete cleft lip: cleft on the upper lip that extends into the nostrils (unilateral/bilateral); more often associated with cleft palate than incomplete cleft lip
• Microform cleft lip: mild, incomplete cleft characterized by a notch on the vermillion border of the upper lip (unilateral)

Cleft palate

• Incomplete cleft palate: clefting only of the secondary palate
• Complete cleft palate
  • Clefting of the entire hard palate, soft palate, and the uvula
  • Often associated with cleft lip
• Submucosal cleft palate (occult cleft palate): muscular and/or bony palatal defect that is masked by intact palatine mucosa

Other features ^[10][11]

• Feeding difficulties: depends on the type and severity of the cleft
  • Cleft lip
    • Minimal feeding difficulties
    • May have suckling difficulties
  • Cleft Palate
    • Difficulty in suckling
    • Nasal regurgitation of milk
    • Choking/coughing during feeds
    • Excessive aerophagia
• Speech difficulties: hypernasal, unintelligible speech due to velopharyngeal insufficiency
• Dentition defects (in CP): due to clefts creating gaps in the maxilla
• Hearing loss: due to recurrent/persistent otitis media with effusion (OME)

• Prenatal
  • CL/CP may be diagnosed on prenatal ultrasound (after 12 weeks of gestation)
  • If detected prenatally, amniocentesis for karyotyping is offered, to detect other chromosomal abnormalities
• Postnatal: clinical diagnosis; children with a submucosal cleft palate may present in later life with abnormal speech and/or OME

References:^[12]

Approach ^[13][14]

• Interdisciplinary management is required (oral maxillofacial surgeons. plastic surgeons otolaryngologists, pediatricians, and speech therapists)
• All cleft lips and palates should be surgically repaired.
• Speech assessment at 12–14 months and therapy of velopharyngeal insufficiency

Conservative measures before surgery ^[15]

• Proper feeding techniques: feeding in upright position to prevent nasal regurgitation; use of specialized feeding bottles ; frequent burping
• Nasoalveolar molding: Use of a custom made orthodontic prosthesis to bridge and reduce the palatal gap and passively mold the maxillary, palatal, and nasal structures into a normal shape
• Nasal stent: to lift the drooping nostril and shape the nose
• Lip taping: use of adhesive tape to reduce the defect; makes definitive surgery easier
• Lip adhesion: suturing the edges of the cleft lip, in conjunction with NAM can be done in infants with complete CL/CP who are not responding well to lip taping

Surgical repair ^[16]

• Cleft lip repair (chelioplasty)
  • Goals: achieving normal lip contour and nose, improve oral competence
  • Timing: at age 3 months, surgery is usually staged with cleft lip being the first surgery and cleft palate done at a later time due to risk of surgery to infant
  • Tympanostomy tubes are placed at the same sitting: in children with OME causing hearing loss/recurrent infections
• Cleft palate repair (palatoplasty) ^[17]
  • Goals: closure of the defect, optimal speech development, and normal maxillofacial growth
  • Timing: at age 6–9 months
• Further surgery is often required as the child grows older.

1. Facts about Cleft Lip and Cleft Palate. https://www.cdc.gov/ncbddd/birthdefects/CleftLip.html. Updated: November 12, 2015. Accessed: April 9, 2017.
2. Craniofacial Development. https://web.duke.edu/anatomy/embryology/craniofacial/craniofacial.html. Updated: December 12, 2016. Accessed: April 26, 2018.
3. Facial and palatal development.
4. Development of the Palate. https://discovery.lifemapsc.com/library/review-of-medical-embryology/chapter-55-development-of-the-palate. . Accessed: April 26, 2018.
5. Prevalence (Number of Cases) of Cleft Lip and Cleft Palate. https://www.nidcr.nih.gov/DataStatistics/FindDataByTopic/CraniofacialBirthDefects/PrevalenceCleft%20LipCleftPalate.htm. Updated: April 8, 2017. Accessed: April 8, 2017.
6. Kosowski TR, Weathers WM, Wolfswinkel EM, Ridgway EB. Cleft palate. Semin Plast Surg. 2012; 26 (4): p.164-169. doi: 10.1055/s-0033-1333883 . | Open in Read by QxMD
7. Murthy J, Bhaskar L. Current concepts in genetics of nonsyndromic clefts. Indian J Plast Surg. 2009; 42 (1): p.68-81. doi: 10.4103/0970-0358.53004 . | Open in Read by QxMD
8. Burg ML, Chai Y, Yao CA, Magee W, Figueiredo JC. Epidemiology, etiology, and treatment of isolated cleft palate. Front Physiol. 2016; 7 : p.67. doi: 10.3389/fphys.2016.00067 . | Open in Read by QxMD
9. Sivertsen A, Wilcox AJ, Skjaerven R, et al. Familial risk of oral clefts by morphological type and severity: population based cohort study of first degree relatives. BMJ. 2008; 336 (7641): p.432-434. doi: 10.1136/bmj.39458.563611.AE . | Open in Read by QxMD
10. Shkoukani MA, Chen M, Vong A. Cleft lip – A comprehensive review. Front Pediatr. 2013; 1 : p.53. doi: 10.3389/fped.2013.00053 . | Open in Read by QxMD
11. Walls R, Hockberger R, Gausche-Hill M. Rosen's Emergency Medicine - Concepts and Clinical Practice. Elsevier Health Sciences ; 2013
12. Sharma R, Nanda V. Problems of middle ear and hearing in cleft children. Indian J Plast Surg. 2009; 42 (3): p.144. doi: 10.4103/0970-0358.57198 . | Open in Read by QxMD
13. Nahai FR, Williams JK, Burstein FD, Martin J, Thomas J. The management of cleft lip and palate: pathways for treatment and longitudinal assessment. Semin Plast Surg. 2005; 19 (4): p.275–285. doi: 10.1055/s-2005-925900 . | Open in Read by QxMD
14. Cleft Lip and Palate.
15. Grayson BH, Maull D. Nasoalveolar molding for infants born with clefts of the lip, alveolus, and palate. Semin Plast Surg. 2005; 19 (4): p.294–301. doi: 10.1055/s-2005-925902 . | Open in Read by QxMD
16. Salyer KE, Rozen ShM, Genecov ER, Genecov DG. Unilateral cleft lip: Approach and technique. Semin Plast Surg. 2005; 19 (4): p.313–328. doi: 10.1055/s-2005-925904 . | Open in Read by QxMD
17. Leow AM, Lo LJ. Palatoplasty: evolution and controversies. Chang Gung Med J. 2008; 31 (4): p.335-345.
18. Swearingen B. Transsphenoidal surgery for pituitary adenomas and other sellar masses. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/transsphenoidal-surgery-for-pituitary-adenomas-and-other-sellar-masses?source=search_result&search=pituitary%20adenoma&selectedTitle=3~150#H21307890.Last updated: June 29, 2015. Accessed: December 19, 2016.
19. Core Curriculum for Cleft Palate and Other Craniofacial Anomalies: Plastic Surgery. http://acpa-cpf.org/core_curriculum/plastic_surgery.html. Updated: April 9, 2017. Accessed: April 1, 2017.
20. Tips For Feeding an Infant with Cleft Lip. http://www.stlouischildrens.org/our-services/cleft-palate-and-craniofacial-institute/tips-feeding-infant-cleft-lip. Updated: April 9, 2017. Accessed: April 9, 2017.
21. Bottles for Cleft Affected Children. http://www.cleftopedia.com/special-feeders/cleftbottles/. Updated: April 9, 2017. Accessed: April 9, 2017.
22. Chapman KL, Hardin-Jones, MA Goldstein JA, Halter KA, Havlik RJ, Schulte J. Timing of palatal surgery and speech outcome. Cleft Palate Craniofac J. 2008; 45 (3): p.297-308. doi: 10.1597/06-244.1 . | Open in Read by QxMD