Cleft lip and cleft palate, collectively known as orofacial clefts, are congenital anomalies that occur due to improper fusion of the maxillofacial structures during embryonic development, typically between the 4th and 12th weeks of gestation.
These anomalies result in a gap or discontinuity in the lip and/or palate and can occur as:
- Cleft lip (CL): may be unilateral or bilateral; complete or incomplete
- Cleft palate (CP): may involve only the soft palate or extend through both hard and soft palates
- Cleft lip and palate (CLP): combination of both
- Atypical clefts: median, transverse (lateral), and oblique facial clefts (rare)
Epidemiology
- Prevalence: Approximately 1 in every 500–550 live births is affected globally.
- Ethnic variation (per 1000 live births):
- Asians: 1.61
- Caucasians: 0.9
- African descent: 0.31
- Sex distribution:
- Cleft lip (± cleft palate) is more common in males
- Isolated cleft palate is more common in females
- Cleft lip with or without cleft palate (CL ± P) is considered genetically distinct from isolated cleft palate (CP).
Etiology and Pathogenesis
Multifactorial causes include:
- Genetic mutations (e.g., IRF6, MSX1, PVRL1)
- Teratogens: alcohol, anticonvulsants (phenytoin), retinoic acid, tobacco
- Nutritional deficiencies: especially folic acid deficiency
- Syndromic associations: over 400 syndromes (e.g., Van der Woude, Pierre Robin sequence)
Clinical Features
Cleft Lip
- May be unilateral or bilateral, complete (extends into the nostril) or incomplete (limited to the lip).
- Often visible at birth and may involve underlying alveolar ridge.
Cleft Palate
- Can involve soft palate, hard palate, or both.
- May appear as a V-shaped or horseshoe-shaped defect.
- Feeding and speech difficulties are hallmark signs.
Pierre Robin Sequence
- Triad:
- Micrognathia (small jaw)
- Glossoptosis (tongue falls backward)
- Cleft palate
- Associated with airway obstruction and feeding difficulties.
- Often linked to congenital heart defects (prevalence up to 15% in PRS patients).
Associated Congenital Abnormalities
- Congenital heart disease
- Hearing loss due to recurrent otitis media
- Dental malocclusion and enamel hypoplasia
- Speech and language delays
- Facial asymmetry
Diagnosis
- Prenatal ultrasound (as early as 20 weeks) can detect larger clefts.
- Postnatal assessment includes a thorough physical exam, feeding evaluation, hearing screening, and genetic workup if syndromic features are present.
Initial Neonatal Management
Key priorities:
- Ensure adequate nutrition (prevent aspiration and malnutrition)
- Manage airway in cases of glossoptosis
- Prevent infections, particularly otitis media
- Family support and counseling
Feeding Support
- Isolated CL: Breastfeeding often possible with proper latching techniques.
- Cleft Palate: Use of specialized bottles (Haberman feeder, cross-cut nipple).
- Position infant upright during feeding to reduce nasal regurgitation and aspiration.
- Palatal obturators may be used to facilitate feeding.
Multidisciplinary Team Approach
Management requires collaboration among:
- Pediatrician
- Plastic surgeon
- Otolaryngologist (ENT)
- Audiologist
- Speech-language pathologist
- Pediatric dentist/orthodontist
- Geneticist
- Psychologist
- Cleft/craniofacial nurse coordinator
Treatment Timeline and Protocol
| Age | Intervention |
|---|---|
| Birth | Diagnosis, parental counseling, feeding support, genetic evaluation |
| 3 months | Surgical cleft lip repair (cheiloplasty), tympanostomy tubes if otitis media present |
| 6 months | Orthodontic assessment, baseline speech evaluation |
| 9-12 months | Surgical cleft palate repair (palatoplasty), continued speech therapy |
| 1–7 years | Orthodontic treatment, ongoing speech therapy |
| 7–8 years | Alveolar bone grafting (to support tooth eruption and nasal floor) |
| >8 years | Orthodontics continues, additional surgeries as needed |
Surgical Considerations
- Rule of 10s: traditional criteria for lip repair:
- 10 weeks old,
- 10 pounds (4.5 kg),
- Hemoglobin ≥ 10 g/dL
- Lip repair (cheiloplasty) improves feeding, speech development, and psychosocial outcomes.
- Palate repair (palatoplasty) enhances velopharyngeal function critical for speech.
- Bone grafting restores alveolar continuity to support teeth.
Complications and Long-Term Outcomes
- Hearing loss due to eustachian tube dysfunction
- Speech delays (hypernasal speech, articulation errors)
- Psychosocial effects: body image issues, bullying
- Dental malocclusion and nasal deformities requiring revision surgery
Prognosis
With early intervention and multidisciplinary care, most children with orofacial clefts have normal development, speech, and psychosocial outcomes.
High-Yield
- Cleft lip/palate can be diagnosed prenatally with ultrasound.
- Feeding difficulty is more severe in cleft palate than in cleft lip.
- Pierre Robin sequence is associated with airway obstruction and cardiac defects.
- Use special bottles and position upright to prevent aspiration.
- Surgery begins around 3 months for cleft lip and 9–12 months for cleft palate.
- Always consider associated anomalies; refer for audiologic and speech evaluations.
- Genetic counseling is important due to familial recurrence risks.
