Cleft Lip and Cleft Palate

Cleft lip and cleft palate are a group of congenital craniofacial malformations resulting from incomplete fusion of the embryological facial processes during early gestation. They are among the commonest congenital anomalies overall.

The condition occurs as isolated cleft lip, isolated cleft palate, or combined cleft lip and palate (the most common combined presentation). It may be unilateral or bilateral, in isolation or, in a meaningful proportion of cases, as part of a broader recognised genetic syndrome.

Contemporary management is delivered through full, long-term multidisciplinary craniofacial team care, from the antenatal or immediate postnatal period through to adulthood. It addresses the functional (feeding, speech, hearing and dental) and psychosocial implications of the condition alongside the surgical correction itself.

Pathophysiology and classification

• Cleft lip results from failure of fusion between the medial nasal and maxillary embryological processes, typically between the fourth and seventh week of gestation.
• Cleft palate results from failure of fusion of the palatal shelves, somewhat later in gestation, between the sixth and ninth week.
• Disruption at these different, sequential timepoints explains why isolated cleft lip and isolated cleft palate can occur as distinct entities. The more common combined presentation reflects disruption affecting both processes.
• The underlying aetiology is multifactorial, reflecting a complex interaction of genetic susceptibility and environmental factors.
• Recognised environmental risk factors include maternal smoking, alcohol use, certain maternal medications (including some antiepileptic drugs), and maternal folate deficiency.
• There is also a significant genetic contribution. A family history of cleft substantially increases recurrence risk in subsequent pregnancies.
• A meaningful proportion of cases, particularly isolated cleft palate, occur as part of a broader recognised genetic syndrome. This underscores the importance of full syndromic assessment as part of the initial diagnostic evaluation.
• Pierre Robin sequence is characterised by the combination of micrognathia, glossoptosis and cleft palate, with an associated risk of airway obstruction requiring careful management.
• 22q11.2 deletion syndrome is another recognised association, among numerous others.

• Cleft lip is typically apparent immediately at birth or, increasingly commonly, identified on routine antenatal ultrasound screening.
• It ranges in severity from a minor notch in the vermilion border (incomplete cleft lip) through to a complete cleft extending into the nostril floor, and may be unilateral or bilateral.
• Cleft palate may occur in isolation, without any visible external lip abnormality. It can therefore be more easily overlooked on initial newborn examination unless careful visualisation and palpation of the palate is performed as a routine component of newborn assessment.
• It ranges from a submucous cleft through to a complete cleft extending through the hard and soft palate.
• In a submucous cleft the palatal mucosa remains intact but the underlying musculature is disrupted. Findings are sometimes subtle, including a bifid uvula, and the cleft is occasionally not identified until presentation with feeding or speech difficulty.
• Feeding difficulty is a common, immediate and important early presenting concern. It is particularly relevant for cleft palate, given the direct impact on the infant's ability to generate adequate negative intraoral pressure for effective sucking. It requires structured feeding support and specialised feeding equipment.
• Where cleft occurs as part of a broader syndromic presentation, features of the underlying syndrome may be present and should be actively, systematically assessed for.
• For Pierre Robin sequence specifically, the combination of micrognathia and glossoptosis carries significant risk of upper airway obstruction. This requires careful, proactive respiratory assessment and, in some cases, specific airway management.
• Recurrent otitis media with effusion occurs with substantially increased frequency in children with cleft palate, given the associated eustachian tube dysfunction reflecting the disrupted palatal musculature.
• The resulting risk of conductive hearing loss has particular additional relevance to speech and language development in this population.

• Antenatal ultrasound screening identifies a substantial proportion of cases of cleft lip. It is less reliable for cleft palate, given the technical challenge of adequate palatal visualisation on standard ultrasound.
• Antenatal diagnosis allows proactive parental counselling and preparation, together with referral to the relevant specialist craniofacial team before delivery.
• Full newborn examination is essential, including careful visualisation and palpation of the palate. This is needed to reliably identify an isolated cleft palate or submucous cleft, which may not be apparent on visual inspection alone and can be overlooked without this deliberate technique.
• Full assessment for any associated syndromic feature or anomaly is an important component of the initial diagnostic evaluation. It includes careful clinical examination and, where indicated by the clinical presentation or family history, genetic testing.
• This assessment is directly relevant to overall prognosis, associated management considerations, and genetic counselling for the family regarding recurrence risk in future pregnancies.
• Specific assessment for airway compromise is an essential, urgent component of initial assessment. It is particularly relevant in Pierre Robin sequence or any other syndromic presentation with associated micrognathia, given the potential for significant, life-threatening upper airway obstruction.

• Full, coordinated multidisciplinary craniofacial team management is the standard, essential approach to long-term management. The team incorporates plastic and reconstructive surgery, orthodontics and maxillofacial surgery, speech and language therapy, audiology, paediatrics, clinical genetics, and psychology.
• Management extends from the immediate postnatal period through childhood and, for certain aspects of ongoing care, into adulthood.
• Feeding support is an essential, immediate priority following birth. Specialised feeding equipment (including cleft-adapted bottles and teats designed to compensate for the infant's reduced ability to generate adequate negative intraoral pressure) and structured guidance from a specialist team support adequate nutritional intake and growth pending definitive surgical repair.
• Surgical repair of cleft lip is typically performed at around three to six months of age. Cleft palate repair is typically performed somewhat later, around nine to twelve months of age.
• Timing balances the benefits of earlier intervention (supporting normal speech development) against surgical and anaesthetic considerations relevant to the infant's size and overall clinical status. Timing protocols vary somewhat between craniofacial centres according to local expertise and established practice.
• Ongoing, structured speech and language therapy assessment and support is an essential, long-term component of management, given the direct relevance of palatal function to normal speech development.
• Velopharyngeal insufficiency is a recognised, important complication in a proportion of children following palate repair. It is inadequate closure between the soft palate and pharyngeal wall during speech, producing characteristic hypernasal speech, and sometimes requires further, secondary surgical intervention.
• Full, ongoing audiological surveillance and, where indicated, active management of otitis media with effusion (including consideration of grommet insertion) is an integral component of management. Adequate hearing is directly relevant to normal speech and language development in this higher-risk population.
• Orthodontic and, subsequently, orthognathic surgical management addresses the frequently significant dental and jaw alignment abnormalities associated with cleft. It typically requires coordinated, staged intervention through childhood and adolescence.
• Alveolar bone grafting is typically performed around the time of mixed dentition, coordinating with the eruption of the permanent canine tooth, to support normal dental development and eruption across the cleft site.
• Full psychological support for the affected child and their family addresses the practical challenges of coordinated, prolonged multidisciplinary treatment and the potential psychosocial impact of visible facial difference on the child's self-esteem and social development.
• Genetic counselling regarding recurrence risk for future pregnancies is provided where relevant. Together, these underpin holistic, family-centred management throughout the extended period of treatment required.