questions 1

Cleft Lip and Palate

Topic updated on 11/20/16 1:29pm

  • A 35-year-old mother brings her 1-week-old female infant to your clinic for difficulty with breast-feeding. The mother reveals that she had no prenatal care during her pregnancy and gave birth at home. She notes that her infant has difficulty latching onto her nipple and she occasionally sees breast milk coming out of the infant’s nose. On examination, you note that there are no obvious facial deformities, however, inspection of the oral cavity reveals a defect in the hard palate and visualization into the nasal cavity. You then decide to refer the patient to a cranial facial clinic. 
  • Causes are multifactorial
  • Genetics
    • concordance rate for monozygotic twins is approximately 40-60%
      • suggests that genetics does not act alone
  • Epidemiology
    • incidence
      • predominant congenital anomalies of the head and neck
        • cleft lip occurs in 1 in 1000
          • occurs more often in males
        • cleft palate occurs in 1 in 2000
          • occurs more often in females
      • of the known 200 syndromes associated with cleft lip and palate, van der Woude syndrome is the most common
        • due to mutations on chromosome 1
        • characterized by facial deformities
    • risk factors
      • alcohol
      • tobacco
      • phenytoin
      • retinoic acid
  • Prenatal ultrasound
    • can diagnose facial deformities as early as 18 weeks
    • accuracy improves with gestational age
  • Following diagnosis, infant is screened for any other congenital abnormalities
  • Primary treatment is surgical correction
  • Children with cleft palates often have difficulty sucking due to air leakage between the nose and mouth
    • breast-feeding is often ineffective and specialized bottles with positional techniques are available to ensure adequate intake
  • Referral to a craniofacial clinic is necessary and comprises multiple specialists that include
    • otolaryngology
    • plastic surgery
    • oral maxillofacial surgery
    • dentistry
    • genetic counseling
    • speech language pathology and audiology
Cleft Lip
  • Pathophysiology
    • maxillary and medial nasal prominences fail to fuse together 
    • resulting in the characteristic persistent labial groove (cleft lip)
Cleft Palate
  • Pathophysology
    • can be divided into anterior and posterior cleft palate
    • demarcating line is incisive foramen 
      • anterior cleft palate
        • failure of fusion of palatine shelves with primary plate
      • posterior cleft palate
        • failure of fusion of the palatine shelves together and with the nasal septum
      • anteroposterior cleft palate
        • combination of the above two defects
  • Note
    • cleft lip and cleft palate have separate embryological causes but many times occur together 


Qbank (1 Questions)

(M1.EB.31) A fourth-year medical student travels to Asia to participate in a medical mission. On the first day, she sees a mother and her two-year-old child (Figure A). The mother states that as an infant, the child was slow to gain weight, but was otherwise healthy and her pregnancy was uncomplicated. The child is now learning to speak, but is having difficulty. What is the embryologic etiology of the craniofacial abnormality seen?
Topic Review Topic
FIGURES: A          

1. Failure of palatine shelves to fuse with each other
2. Failure of maxillary prominences to fuse with the medial nasal process
3. Failure of maxillary prominences to fuse with the lateral nasal process
4. Failure of palatine shelves to fuse with the medial nasal process
5. Failure of palatine shelves to fuse with the lateral nasal process


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