Cleft lip and palate

 

Embryology

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  1. 4th week – neural crest cells form medial and lateral nasal  prominence and paired maxillary and mandibular processes
  2. 6th week – formation of upper lip and primary palate
  3. 7th week – secondary palate forms from maxillary processes
    1. lip and primary palate develop distinct of secondary palate
    2. cleft lip with/without cleft palate and isolated cleft palate are epidemiologically separate
    3. Molecular regulation – fibroblast growth factors, sonic hedgehog genes, bone morphogenic proteins, homeobox containing genes

 

Epidemiology

  1. Incidence not well known in many parts of world ~ 1/700 live births
  2. Cleft lip with/without cleft palate more common in males
  3. Isolated cleft palate more common in females
  4. Frequently associated with other major anomalies
    1. Most often congenital heart or renal disease

 

Etiology

  1. Environmental Risk Factors
    1. Maternal tobacco use
    2. Maternal nutrition – prenatal multivitamin decreases risk 25%
    3. Teratogen exposure – chemotherapy, anticonvulsants
  2. Genetic
    1. Cleft lip wit/without cleft palate and isolated cleft palate are recorded features of more than 600 specific genetic syndromes
    2. Clusters in families, concordance rate among monozygotic twin
    3. Many different chromosomal loci and genes implicated
    4. Studies of specific gene-environment interactions are inconclusive

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Clinical Care

  1. Delivery room/ Nursery
    1. Examine palate and oropharynx visually and manually
      1. submucosal cleft may be felt as bony notch in palate
    2. Look for other abnormalities
      1. hand anomalies, club foot, and torticollis common
      2. If multiple abnormalities, consult geneticist
    3. Accurate height, weight, head circumference very important
      1. Often feeding difficulties – may require lactation consultant, speech therapy, formula supplementation
  2. Informing the family
    1. Discuss the baby’s strengths, convey abnormalities objectively
    2. Offer surgical options
  3. Primary Care
    1. Detailed family and prenatal history essential to determine idiopathic versus syndromic etiology of cleft
    2. AAP guidelines for immunizations are appropriate
    3. Increased risk for otitis media, speech delay, hearing impairment  
    4. Feeding – can range from normal to severely compromised
      1. Feed upright with head in neutral position
      2. Specialized nipples and bottles available
  4. Surgical Management
    1. Cleft lip repair at 10 weeks old, 10 lbs weight with steady growth
      1. Surgery relies on rotation and advancement of flaps
    2. Cleft palate repair at 9 months of age
      1. Often requires surgical revision
    3. Oral surgery and orthodontia follow-up required into adulthood
  5. Psychological Management
    1. Psychological and cognitive outcomes do not differ from control groups in large studies
    2. Facial appearance and degree of speech impairment may correlate with psychosocial impairment
    3. Adolescence increases risk of psychosocial problems

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References

  1. Campbell A, Costello BJ, Ruiz RL. Cleft lip and palate surgery: an update of clinical outcomes for primary repair. Oral Maxillofac Surg Clin North Am. 2010 Feb;22(1):43-58.
  2. Kasten EF, Schmidt SP, Zickler CF, Berner E, Damian LA, Christian GM, Workman H, Freeman M, Farley MD, Hicks TL. Team care of the patient with cleft lip and palate. Curr Probl Pediatr Adolesc Health Care. 2008 May-Jun;38(5):138-58.
  3. Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC. Cleft lip and palate. Lancet. 2009 Nov 21;374(9703):1773-85. Epub 2009 Sep 9. Review.
  4. Czeizel AE, Timar L and Sarkozi A. Dose-dependent Effect of Folic Acid on the Prevention of Orofacial Clefts. Pediatrics. 1999; 104(6):e66.
  5. Kaufman, Felix. "Managing the Cleft Lip and Palate Patient." Pediatric Clinics of North America, Vol. 38, No. 5, October 1991, pp. 1127-47.
  6. Byrnes A et al. Parental Evaluation of Informing Interviews for Cleft Lip and/or Palate. Pediatrics August 2003

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