Description
Cleft palate is a birth defect characterised by an opening or split in the roof of the mouth (palate) due to incomplete fusion during embryological development. It is one of the most common congenital facial anomalies, affecting approximately 1 in 2000 births globally.
Pathogenesis
Cleft palate results from a failure of fusion of the palatine shelves during the 6th to 12th weeks of embryonic development. This can occur in isolation (nonsyndromic) or as part of a syndrome (syndromic), where it is associated with other congenital abnormalities.
Epidemiology, Risk Factors & Associations
- Cleft palate occurs more frequently in females (ratio 2:1).
- The prevalence varies significantly among different ethnic groups, being highest in Asian and Native American populations and lowest in African populations.
- Maternal risk factors:
- Smoking during pregnancy significantly increases the risk of a child being born with a cleft palate. The relative risk (RR) is estimated to be 1.3 to 2.1 (30-110% increase).
- Use of alcohol during pregnancy has been linked to a higher incidence of cleft palate, with a relative risk (RR) estimated around 1.2 to 2.6.
- Use of certain medications during pregnancy, particularly antiepileptic drugs like phenytoin and valproic acid, are associated with an increased risk.
- Genetic risk factors:
- A family history of orofacial clefts can increase the risk. If a parent has a cleft, the risk of having a child with a cleft increases to about 4%.
- Approximately 30-50% of cases are associated with genetic syndromes, including:
- Van der Woude syndrome (2% of cases)
- Pierre Robin sequence (4.8-8.5 cases per 10,000 births)
- Treacher Collins syndrome (1 in 50,000 births).
Clinical Features
- Feeding difficulties due to inability to generate sufficient suction.
- Speech problems, including hypernasal speech and articulation errors.
- Frequent ear infections due to dysfunction of the Eustachian tubes.
- Dental problems, including malocclusion and increased prevalence of caries.
Pathological Features
Histopathology
- In cleft palate, the normal structure of the palate, consisting of oral mucosa, palatine muscles, and nasal mucosa, is disrupted.
Radiological Features
Antenatal ultrasound
- Antenatal ultrasound can detect cleft palate from the 18th gestational week, but it is challenging due to the small size of the fetal palate.
CT
- Postnatal facial bones CT can give detailed information about the extent of the cleft and associated anomalies.
Differential Diagnosis
- Other causes of feeding difficulties and speech issues in children should be considered, including neurodevelopmental disorders and hearing impairment.
Management
- Initial management includes supporting feeding and growth.
- Definitive management is typically surgical repair of the cleft, usually performed between 6 to 12 months of age.
- Multidisciplinary care involving speech and language therapy, audiology, orthodontics, and psychology is essential for comprehensive management of these patients.