Updated: 3/11/2022

Cleft Lip and Palate

Review Topic
  • A 35-year-old mother brings her 1-week-old female infant to your clinic for difficulty with breastfeeding. 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 craniofacial clinic. 
  • Etiology
    • causes are multifactorial
  • Genetics
    • concordance rate for monozygotic twins is approximately 40-60%
      • suggests that genetics does not act alone
  • Epidemiology
    • incidence
      • predominant congenital anomaly of the head and neck
        • cleft lip occurs in 1 in 1,000
          • occurs more often in males
        • cleft palate occurs in 1 in 2,000
          • 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, most commonly lip pits 
    • risk factors
      • alcohol
      • tobacco
      • phenytoin
      • retinoic acid
  • Prenatal ultrasound
    • can diagnose facial deformities as early as 18 weeks
    • accuracy improves with gestational age
    • upon diagnosis infant and family are immediately referred to a craniofacial center for management 
  • Following diagnosis, infant is screened for any other congenital abnormalities
  • Primary treatment is surgical correction
  • Children with cleft palate 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
    • surgery for cleft lip is usually performed around 3 months of age 
    • surgery for cleft palate is usually performed around 1 year of age, when speech is beginning to develop
    • orthodontic devices may be used to decrease size of cleft lip prior to definitive repair
  • 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 (intermaxillary segment) fail to fuse together  
    • resulting in the characteristic persistent labial groove (cleft lip)
    • complete vs. incomplete cleft lip 
    • bilateral vs. unilateral 
Cleft Palate
  • Pathophysiology 
    • 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 

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(M1.EB.15.31) 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, as seen in Figure A. The mother states that as an infant, despite some minor difficulties with forming a seal during breastfeeding, the child was able to gain weight appropriately for her age. Additionally, the mother's pregnancy was uncomplicated. The child is now learning to speak, but is having difficulty. The remainder of the child's exam is normal. What is the embryologic etiology of the craniofacial abnormality seen?

QID: 101925

Failure of palatine shelves to fuse with each other



Failure of maxillary prominences to fuse with the medial nasal process



Failure of maxillary prominences to fuse with the lateral nasal process



Failure of palatine shelves to fuse with the medial nasal process



Failure of palatine shelves to fuse with the lateral nasal process



M 2 E

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