Snapshot – Cleft Lip and Palate
- 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.
Introduction
Cleft lip and palate are congenital conditions that result from incomplete fusion of facial structures during embryonic development. These conditions can significantly impact a person’s appearance, speech, and ability to eat and breathe properly. Understanding cleft lip and palate is essential for medical professionals, especially those in plastic surgery, otolaryngology, pediatrics, and speech therapy. This article provides a comprehensive overview of cleft lip and palate, including its types, function, related studies, treatment considerations, and clinical significance.
- Etiology
- causes are multifactorial
- Genetics
- concordance rate for monozygotic twins is approximately 40-60%
- suggests that genetics does not act alone
- concordance rate for monozygotic twins is approximately 40-60%
- 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
- cleft lip occurs in 1 in 1,000
- 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
- predominant congenital anomaly of the head and neck
- risk factors
- alcohol
- tobacco
- phenytoin
- incidence
- retinoic acid
Studies
- 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
Treatment
- 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
Cleft Palate
- Pathophysiology
- can be divided into anterior and posterior cleft palate
- demarcating line is incisive foramen
- Note
- cleft lip and cleft palate have separate embryological causes but many times occur together
Embryological Development:
Cleft lip and palate occur during early embryonic development, typically in the first trimester of pregnancy:
- Cleft Lip: Cleft lip results from the incomplete fusion of the upper lip’s two sides, leading to an opening or gap.
- Cleft Palate: Cleft palate occurs when the two sides of the palate (roof of the mouth) fail to fuse properly, resulting in an opening between the mouth and nasal cavity.
Types of Cleft Lip and Palate:
- Unilateral Cleft Lip: A unilateral cleft lip affects one side of the upper lip, resulting in a gap on one side of the mouth.
- Bilateral Cleft Lip: A bilateral cleft lip affects both sides of the upper lip, leading to gaps on both sides of the mouth.
- Cleft Palate Only: In some cases, the cleft may affect only the palate without involving the lip.
Function and Complications:
- Feeding Difficulties: Infants with cleft lip and palate may experience difficulties in breastfeeding or bottle feeding due to the gap in the lip or palate.
- Speech Problems: Cleft lip and palate can affect speech development, leading to speech disorders such as articulation and resonance issues.
- Dental and Orthodontic Problems: Children with cleft lip and palate may experience dental and orthodontic challenges due to the abnormal positioning of teeth and jaw.
- Hearing Problems: Some individuals with cleft palate may have ear infections and hearing problems due to dysfunction of the Eustachian tube.
- Psychosocial Impact: The visible facial differences caused by cleft lip and palate can affect a person’s self-esteem and social interactions.
Clinical Significance:
- Early Detection and Intervention: Early diagnosis and intervention are critical for optimal outcomes. Prenatal ultrasound and postnatal clinical examinations help identify cleft lip and palate early on.
- Multidisciplinary Care: The management of cleft lip and palate requires a multidisciplinary approach involving various specialists, including plastic surgeons, otolaryngologists, pediatricians, speech therapists, and orthodontists.
Conclusion:
Cleft lip and palate are congenital conditions that result from incomplete fusion during embryonic development. These conditions can significantly impact feeding, speech, dental development, and psychosocial well-being. Early diagnosis and multidisciplinary intervention are crucial for improving outcomes and enhancing the quality of life for individuals with cleft lip and palate. Advances in surgical techniques, genetic research, and speech therapy continue to improve the management and treatment of these conditions, providing hope and support for affected individuals and their families.
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